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78–125 2013

DIRECT-TO-CONSUMER GENETIC TESTING AND THE 

CONSEQUENCES TO THE PUBLIC HEALTH 

HEARING 

BEFORE THE

SUBCOMMITTEE ON OVERSIGHT AND 

INVESTIGATIONS 

OF THE

COMMITTEE ON ENERGY AND 

COMMERCE 

HOUSE OF REPRESENTATIVES 

ONE HUNDRED ELEVENTH CONGRESS 

SECOND SESSION 

JULY 22, 2010 

Serial No. 111–148 

( 

Printed for the use of the Committee on Energy and Commerce 

energycommerce.house.gov 


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COMMITTEE ON ENERGY AND COMMERCE 

HENRY A. WAXMAN, California, Chairman 

JOHN D. DINGELL, Michigan 

Chairman Emeritus 

EDWARD J. MARKEY, Massachusetts 

RICK BOUCHER, Virginia 

FRANK PALLONE, JR., New Jersey 

BART GORDON, Tennessee 

BOBBY L. RUSH, Illinois 

ANNA G. ESHOO, California 

BART STUPAK, Michigan 

ELIOT L. ENGEL, New York 

GENE GREEN, Texas 

DIANA DEGETTE, Colorado 

Vice Chairman 

LOIS CAPPS, California 

MICHAEL F. DOYLE, Pennsylvania 

JANE HARMAN, California 

TOM ALLEN, Maine 

JANICE D. SCHAKOWSKY, Illinois 

CHARLES A. GONZALEZ, Texas 

JAY INSLEE, Washington 

TAMMY BALDWIN, Wisconsin 

MIKE ROSS, Arkansas 

ANTHONY D. WEINER, New York 

JIM MATHESON, Utah 

G.K. BUTTERFIELD, North Carolina 

CHARLIE MELANCON, Louisiana 

JOHN BARROW, Georgia 

BARON P. HILL, Indiana 

DORIS O. MATSUI, California 

DONNA M. CHRISTENSEN, Virgin Islands 

KATHY CASTOR, Florida 

JOHN P. SARBANES, Maryland 

CHRISTOPHER S. MURPHY, Connecticut 

ZACHARY T. SPACE, Ohio 

JERRY MCNERNEY, California 

BETTY SUTTON, Ohio 

BRUCE L. BRALEY, Iowa 

PETER WELCH, Vermont 

JOE BARTON, Texas 

Ranking Member 

RALPH M. HALL, Texas 

FRED UPTON, Michigan 

CLIFF STEARNS, Florida 

NATHAN DEAL, Georgia 

ED WHITFIELD, Kentucky 

JOHN SHIMKUS, Illinois 

JOHN B. SHADEGG, Arizona 

ROY BLUNT, Missouri 

STEVE BUYER, Indiana 

GEORGE RADANOVICH, California 

JOSEPH R. PITTS, Pennsylvania 

MARY BONO MACK, California 

GREG WALDEN, Oregon 

LEE TERRY, Nebraska 

MIKE ROGERS, Michigan 

SUE WILKINS MYRICK, North Carolina 

JOHN SULLIVAN, Oklahoma 

TIM MURPHY, Pennsylvania 

MICHAEL C. BURGESS, Texas 

MARSHA BLACKBURN, Tennessee 

PHIL GINGREY, Georgia 

STEVE SCALISE, Louisiana 


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SUBCOMMITTEE ON OVERSIGHT AND INVESTIGATIONS

BART STUPAK, Michigan, Chairman 

BRUCE L. BRALEY, Iowa 

Vice Chairman 

EDWARD J. MARKEY, Massachusetts 

DIANA DEGETTE, Colorado 

MIKE DOYLE, Pennsylvania 

JANICE D. SCHAKOWSKY, Illinois 

MIKE ROSS, Arkansas 

DONNA M. CHRISTENSEN, Virgin Islands 

PETER WELCH, Vermont 

GENE GREEN, Texas 

BETTY SUTTON, Ohio 

JOHN D. DINGELL, Michigan (ex officio) 

GREG WALDEN, Oregon 

Ranking Member 

ED WHITFIELD, Kentucky 

MIKE FERGUSON, New Jersey 

TIM MURPHY, Pennsylvania 

MICHAEL C. BURGESS, Texas 


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C O N T E N T S 

Page 

Hon. Bart Stupak, a Representative in Congress from the State of Michigan, 

opening statement ................................................................................................ 1 

Prepared statement .......................................................................................... 4 

Hon. Michael C. Burgess, a Representative in Congress from the State of 

Texas, opening statement .................................................................................... 10 

Prepared statement .......................................................................................... 12 

Hon. Henry A. Waxman, a Representative in Congress from the State of 

California, opening statement ............................................................................. 19 

Prepared statement .......................................................................................... 21 

Hon. Parker Griffith, a Representative in Congress from the State of Alabama, opening statement .................................................................................... 24 

Hon. Diana DeGette, a Representative in Congress from the State of Colorado, opening statement ...................................................................................... 25 

Hon. Robert E. Latta, a Representative in Congress from the State of Ohio, 

opening statement ................................................................................................ 26 

Prepared statement .......................................................................................... 27 

Hon. Donna M. Christensen, a Representative in Congress from the Virgin 

Islands, opening statement ................................................................................. 30 

Hon. Phil Gingrey, a Representative in Congress from the State of Georgia, 

opening statement ................................................................................................ 30 

Hon. Joe Barton, a Representative in Congress from the State of Texas, 

prepared statement .............................................................................................. 180 

WITNESSES

Gregory Kutz, Managing Director, Forensic Audits and Special Investigations, 

Government Accountability Office ...................................................................... 32 

Prepared statement .......................................................................................... 35 

Answers to submitted questions ...................................................................... 183 

Jeffrey Shuren, M.D., Director, Center for Devices and Radiological Health, 

U.S. Food and Drug Administration ................................................................... 68 

Prepared statement .......................................................................................... 70 

James Evans, Editor-in-Chief, Genetics in Medicine, Bryson Professor of Genetics and Medicine, University of North Carolina at Chapel Hill ................. 100 

Prepared statement .......................................................................................... 103 

Answers to submitted questions ...................................................................... 187 

Ashley Gould, General Counsel, 23andMe ............................................................ 107 

Prepared statement .......................................................................................... 109 

Answers to submitted questions ...................................................................... 191 

Vance Vanier, President and CEO, Navigenics, Inc. ............................................ 142 

Prepared statement .......................................................................................... 144 

Answers to submitted questions ...................................................................... 211 

David Becker, Chief Scientific Officer, Pathway Genomics Corporation ............ 150 

Prepared statement .......................................................................................... 152 

Answers to submitted questions ...................................................................... 217 


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DIRECT-TO-CONSUMER GENETIC TESTING 

AND THE CONSEQUENCES TO THE PUBLIC 

HEALTH 

THURSDAY, JUNE 22, 2010 

HOUSE OF REPRESENTATIVES, 

SUBCOMMITTEE ON OVERSIGHT AND INVESTIGATIONS, 

COMMITTEE ON ENERGY AND COMMERCE, 

Washington, DC. 

The subcommittee met, pursuant to call, at 9:34 a.m., in Room 

2123, Rayburn House Office Building, Hon. Bart Stupak [chairman 

of the subcommittee] presiding. 

Present: Representatives Stupak, DeGette, Christensen, Waxman 

(ex officio), Burgess, Gingrey, Griffith, and Latta. 

Staff Present: Phil Barnett, Staff Director; Bruce Wolpe, Senior 

Advisor; Stephen Cha, Professional Staff Member; Eric Flamm, 

FDA Detailee; Dave Leviss, Chief Oversight Counsel; Meredith 

Fuchs, Chief Investigative Counsel; Tiffany Benjamin, Counsel; 

Erika Smith, Professional Staff Member; Ali Neubauer, Special Assistant; Derrick Franklin, HHS Detailee; Karen Lightfoot, Communications Director, Senior Policy Advisor; Elizabeth Letter, Special 

Assistant; Alan Slobodin, Minority Counsel; Melissa Bartlet, Minority Counsel; Robert Frisbee, Minority Detailee; and Garrett 

Golding, Minority Legislative Analyst. 

OPENING STATEMENT OF HON. BART STUPAK, A REPRESENTATIVE IN CONGRESS FROM THE STATE OF MICHIGAN 

Mr. STUPAK. This meeting will come to order. 

Today we have a hearing entitled, ‘‘Direct-to-Consumer Genetic 

Testing and the Consequences to the Public Health.’’ 

The chairman, ranking member, and chairman emeritus will be 

recognized for a 5-minute opening statement. Other members of 

the subcommittee will be recognized for a 3-minute opening statement. I will begin. 

‘‘Genetic testing can effect how well some drugs work for you or 

whether they work at all.’’ ‘‘Learn if you have a propensity for obesity, cancers, diabetes, and more.’’ These are some of the claims 

featured on the Web sites of two of the direct-to-consumer genetic 

testing companies we are examining in today’s hearing. These companies and their competitors make enticing claims about what this 

promising new field of research can offer the American consumer. 

I am sure that many people would want to know if they have a 

higher risk of being diagnosed with colon cancer or if your body is 

likely to react poorly to a drug that treats heart disease. With the 


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decoding of the human genome, medical science opened up the possibility of detecting people’s predisposition to disease, establishing 

a better understanding of family ancestry, and the developing 

drugs that are designed to treat genetic conditions. 

Some companies are now marketing personalized genetic tests, 

claiming they have the ability to provide extensive information 

about their health with the simple swab of their cheek. These companies tell consumers that greater genetic testing can predict 

whether they are more likely to develop diseases such as breast 

cancer, diabetes, cystic fibrosis, celiac disease, and heart disease. 

The companies state that genetic tests also inform consumers of 

how they are likely to react to prescription drugs taken to treat 

HIV or high blood pressure. 

But how accurate are these companies’ analysis of direct-to-consumer genetic tests? Sending the consumer the results of genetic 

tests without counseling or medical advice may cause more harm 

than good for some consumers. How accurate is the health information? How do companies explain differences in their analyses? Is 

there sufficient government oversight of the practices of direct-toconsumer genetic testing manufacturers? Today we will seek answers to these questions as we examine direct-to-consumer genetic 

testing kits and their potential implications for public health. 

A 2008 article in the Journal of the American Medical Association entitled, ‘‘Risks and Benefits of Direct-to-Consumer Genetic 

Testing Remain Unclear,’’ claims that, and I quote, ‘‘Companies 

cannot demonstrate causation, and many of the markers being 

used by the testing companies have not been validated by other 

groups or by studies that the molecular mechanism by which these 

genes might lead to disease,’’ end of quote. 

Yet, this subcommittee has learned that some direct-to-consumer 

genetic testing companies are advising their customers that, based 

on genetic data, their body is likely to react favorably or unfavorably to certain medications. 

For example, we discovered internal company documents demonstrating that one company informed consumers based on their 

genetic markers that they are likely to have a low risk of side effects should they use a certain cancer drug, irinotecan, a drug commonly used to treat colorectal and other cancers. The document 

goes on to say that, because of the low risk of a bad drug reaction 

to the drug, if a person is treated for cancer, the medical team may 

want to prescribe this cancer-fighting drug. 

Today’s hearing continues previous inquiries within the Subcommittee on Oversight and Investigation of genetic testing issues. 

In March 2009, Chairman Waxman and I joined Ranking Member 

Barton and subcommittee Ranking Member Walden in a request to 

the Government Accountability Office to investigate concerns that 

the genetic testing market appears to have expanded rapidly and 

consumer fraud in this area is on the rise. Our letter requested the 

GAO direct its Forensic Audit and Special Investigations Unit to 

perform proactive testing of the actual products currently marketed 

by several companies and of the advertising methods used to sell 

these products to consumers. I thank the chairman and my colleagues for working together on this important bipartisan inquiry. 


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During the course of our investigation, GAO found that some direct-to-consumer genetic testing companies provide misleading results from genetic testing kits. GAO concluded that risk predictions 

often conflicted with the donors’ factual illnesses and family medical histories. For example, one of the donors in the GAO investigation had a pacemaker implanted 14 years ago to treat an irregular 

heartbeat, but his genetic test came back stating that he was at decreased risk for developing a heart condition. 

When GAO consulted with medical and genetic experts, they 

were told that the direct-to-consumer tests are not diagnostic. As 

a result, the medical predictions based on genetic test results defy 

actual medical histories. What is less clear is whether the companies are accurate in describing test results to their customers. 

Today, Mr. Gregory Kutz, managing director, Forensic Audits 

and Special Investigation, with the Government Accountability Office, will be informing the subcommittee of their findings. Mr. 

Kutz’s team conducted the investigation into five direct-to-consumer genetic testing companies. 

Joining Mr. Kutz is Dr. Jeff Shuren, director of the Center for 

Device and Radiological Health with the Food and Drug Administration. FDA represents the Federal agency responsible for the regulation of these direct-to-consumer genetic tests. 

We will also be hearing from direct-to-consumer genetic testing 

companies. I look forward to hearing from these companies about 

the quality of the products and services they offer and the steps 

they take to protect the American consumer. 

Joining the manufacturers is Dr. James T. Evans, a professor 

and director of genetics and medicine at the University of North 

Carolina at Chapel Hill. Dr. Evans is an advisor to the U.S. Secretary of Health and Human Services on the subject of genetics, 

health, and society. Dr. Evans currently serves as the editor-inchief of Genetics in Medicine, the official journal of the American 

College of Medical Genetics. 

I want to thank our witnesses for their cooperation in appearing 

before us today. I look forward to their testimony and to learning 

more about the promises and risks in this exciting new field. 

[The prepared statement of Mr. Stupak follows:] 


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Opening Statement 

Rep. Bart Stupak, Chairman 

Committee on Energy and Commerce 

Subcommittee on Oversight and Investigations 

"Direct-To-Consumer Genetic Testing and the Consequences to the 

Public Health" 

July 22, 2010 

"Genetics can affect how well some drugs workfor you-or 

whether they will 

work at all. " 

"Learn if you have a propensity for obesity. cancers, diabetes. and 

more. 

These are some of the claims featured on the websites of two of the 

direct-to-consumer genetic testing companies we are examining in 

today's hearing. 

These companies, and their competitors, make enticing claims 

about what this promising new field of research can offer the 

American consumer. I'm sure that many people would want to 

know if they have a higher risk of being diagnosed with colon 

cancer or if their body is likely to react poorly to a drug that treats 

heart disease? 
5 


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With the decoding of the human genome, medical science opened 

up the possibility of detecting people's pre-disposition to disease, 

establishing a better understanding of family ancestry, and 

developing drugs that are designed to treat genetic conditions. 

Some companies are now marketing personalized genetic tests 

claiming they have the ability to provide extensive information 

about their health with a simple swab of their cheek. These 

companies tell consumers that genetic testing can predict whether 

they are more likely to develop diseases such as breast cancer, 

diabetes, cystic fibrosis, celiac disease and heart disease. The 

companies state that genetic tests also inform consumers how they 

are likely to react to prescription drugs taken to treat HIV 

medication or high blood pressure. 

But how accurate are the companies' analyses of direct-toconsumer genetic tests? By sending the customer the results of 

genetic tests without counseling or medical advice may cause more 

harm than good for some consumers? How accurate is the health 

information? How do companies explain differences in their 

analyses? Is there sufficient government oversight of the practices 

of direct-to-consumer genetic testing manufacturers? 

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6 


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Today we will seek answers to these questions as we examine 

direct-to-consumer genetic testing kits and their potential 

implications for public health. 

A 2008 article in the Journal of the American Medical Association 

entitled Risk and Benefits of Direct-To-Consumer Genetic Testing 

Remains Unclear, claims these "companies cannot demonstrate 

causation, and many of the markers being used by the testing 

companies have not been validated by other groups or by studies 

that the molecular mechanism by which these genes might lead to 

disease." 

Yet the Subcommittee has learned that some direct-to-consumer 

genetic testing companies are advising customers that, based on 

genetic data, their body is likely to react favorably or unfavorably 

to certain medications. For example, we discovered internal 

company documents demonstrating that one company informed 

customers, based on their genetic markers, that they are likely to 

have a low risk of serious side effects should they use irinotecan [iren-no-tec-an]- a drug commonly used to treat colorectal and other 

cancers. The document goes on to say that because of the low risk 

of a bad reaction to the drug, if a person is being treated for cancer, 

the medical team may want to prescribe irinotecan. 

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Today's hearing continues previous inquiries within the 

Subcommittee on Oversight and Investigations on genetic testing 

issues. In March 2009, Chairman Waxman and I joined Ranking 

Member Barton and Subcommittee Ranking Member Walden in a 

request to the Government Accountability Office (GAO) to 

investigate concerns that "the genetic testing market appears to 

have expanded rapidly and consumer fraud in this area is on the 

rise." Our letter requested that GAO direct its Forensic Audit and 

Special Investigations Unit to "perform proactive testing of the 

actual products currently marketed by several companies and of 

the advertising methods used to sell these products to consumers." 

I thank the Chairman and my colleagues on the other side of the 

aisle for working together for this important, bipartisan inquiry. 

During the course of the investigation, GAO found that some 

direct-to-consumer genetic testing companies provided misleading 

results from genetic testing kits. GAO concluded that risk 

predictions often conflicted with the donors' factual illnesses and 

family medical histories. 

For example, one of the donors in the GAO investigation had a 

pacemaker implanted 14 years ago to treat an irregular heartbeat 

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but his genetic test came back stating that he was at decreased risk 

for developing a heart condition. When GAO consulted with 

medical and genetics experts, they were told that the direct-toconsumer tests are not diagnostic. As a result, medical predictions 

based on genetic test results defy actual medical histories. What is 

less clear is whether the companies are accurate in describing test 

results to their customers. 

Today, Mr. Gregory Kutz, Managing Director, Forensic Audits and 

Special Investigations, with the Government Accountability Office 

(GAO) will be informing the Subcommittee of their findings. Mr. 

Kutz's team conducted the investigation into five direct-toconsumer genetic testing companies. 

Joining Mr. Kutz is Dr. Jeff Shuren, Director of Center for Device 

and Radiological Health with the Food and Drug Administration 

(FDA). FDA represents the federal agency responsible for the 

regulation of these direct-to-consumer genetic tests. 

We will also be hearing from three direct-to-consumer genetic 

testing companies. I look forward to hearing from these 

companies about the quality of the products and services they offer 

and the steps they take to protect the American consumer. 

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Joining the manufacturers is Dr. James P. Evans is a Professor and 

Director of Genetics and Medicine at the University of North 

Carolina at Chapel Hill. Dr. Evans is an advisor to the U.s. 

Secretary of Health and Human Services on the subject of 

"Genetics, Health, and Society". Dr. Evens currently serves as the 

Editor-in-Chief of Genetics in Medicine, the official journal of the 

American College of Medical Genetics. 

I thank our witnesses for their cooperation and for appearing 

before us today. I look forward to your testimony and to learning 

more about the promises and risks of this exciting new field. 

Thank you. 

6 
10 

Mr. STUPAK. I would also ask unanimous consent that Congresswoman Louise Slaughter’s statement be made part of my opening 

statement, without objection. 

[The information was unavailable at the time of printing.] 

Mr. STUPAK. I would next turn to Mr. Burgess for an opening 

statement. 

OPENING STATEMENT OF HON. MICHAEL C. BURGESS, A 

REPRESENTATIVE IN CONGRESS FROM THE STATE OF TEXAS 

Mr. BURGESS. I thank the chairman and I thank Chairman Waxman for convening this hearing. It is an important topic. 

The advancements in genomics, as we have heard in other subcommittees in the Committee on Energy and Commerce, have been 

startling. The Human Genome Project was certainly a long time in 

coming but worth the wait, and the excitement it has provided has 

proved that point. The discovery of over 1,800 genes linked to disease is nothing short of remarkable. The promise this research 

holds to help those suffering or likely to suffer from diseases and 

medical conditions is very real. We cannot overstate the significance of these advances, and I have no doubt that genomics will 

revolutionize the daily practice of medicine. 

However, we also have to be concerned about a rush to commercialization. It is imperative that the information consumers receive 

is reliable and accurate. As an obstetrician/gynecologist, I’m disturbed by a recent Washington Post article where the Food and 

Drug Administration asserts that patients may have had surgery, 

irreversible surgery, based on questionable results of genetic tests 

for a certain type of cancer. Consumers should have access to information, but it must be reliable and accurate. No one should be required to make an irreversible health decision, such as a surgical 

procedure, based on unsettled or evolving science. 

Findings from the Government Accountability Office’s undercover 

work with genetic testing companies raises these very concerns. 

The GAO’s secret shoppers or fictitious consumers received disease 

risk predictions that varied greatly across the different companies. 

One person was deemed at below-average, average, and above-average risk for prostate cancer and hypertension from four different 

companies. And in this sort of testing, you don’t get to pick the best 

two out of three. 

Overall, the GAO found 68 percent of the time the donor DNA 

samples resulted in different risk predictions for the same disease. 

This lack of consistency may indicate the state of the science, but 

it also begs the question: How can consumers know their true risk? 

Furthermore, it is very difficult that companies promise impossible results, tell consumers that they will definitely get cancer, or 

inappropriately claim celebrity endorsement. One company counseled a patient that the above-average risk prediction for breast 

cancer meant that she was, quote, ‘‘in the high risk of pretty much 

getting,’’ closed quote, the disease. 

The examples by the Food and Drug Administration and the 

Government Accountability Office show that there is cause for concern about these tests. I’m a proponent of personalized medicine, 

but I fear that these practices might confuse the potential for these 

tests to be of benefit in the future. Genetic testing will not realize 


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its potential if the components are unreliable or, worse, if fraudulent information is pushed. 

Apparently, a director of research and development at Pathway 

Genomics agrees. In a March 17, 2010, e-mail to her colleague regarding weight management genetic testing for contestants of the 

popular television show ‘‘The Biggest Loser,’’ she raises concerns 

about the ability to distinguish the real science from the hot topics 

that are generally not validated science or to meet any criteria for 

strength of genetic association. 

On March 18, her colleague responds that she, too, has on many 

occasions tried to raise the scientific red flag in meetings. If the 

people doing the research at these companies question the tests’ reliability, then there are certainly going to be issues for the consumer. 

One might argue that greater Food and Drug Administration 

regulation of the results is needed, and I believe we must ask, are 

the kits themselves properly regulated? The Food and Drug Administration recently sent letters to commercial genetic testing companies asserting regulatory authority over their products. Also, the 

FDA convened a public meeting to look at the broader issues of regulating the developed tests. I do want to hear from the Food and 

Drug Administration about their plans. 

But a more basic question for the FDA is, is the science sound 

enough to support this market? Can the Food and Drug Administration police genetic tests with a science that is so new and so rapidly changing? If people become uncertain as to the reliability of 

the results of genetic testing because that reflects the infancy of 

the science, then medicine may never reap the benefits that this 

science holds. 

Finally, and to the Food and Drug Administration, the science 

may not be there yet—and I would stress the ‘‘yet’’—but it will be, 

so you must be ready. Needed tests and cures should not be denied 

down the road because our Federal agency, the Food and Drug Administration, has not yet figured out how to adapt to the science. 

Ponder this: How will the FDA regulate personalized pharmaceutical and biologic products? How do you do randomized clinical 

trials on personalized therapies, on therapies that are developed for 

a single patient? The future may not be here yet, but it is right 

over the horizon. 

Thank you, Mr. Chairman, for holding this hearing. And I will 

yield back the balance of my time. 

[The prepared statement of Mr. Burgess follows:] 


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Opening Statement of the Honorable Michael C. Burgess 

Subcommittee on Oversight and Investigations 

Hearing on 

"The Outbreak of Salmonella in Eggs" 

September 22,2010 

Thank you, Chairman Stupak for convening this important hearing. 

Once again we find ourselves in the middle of a food-borne illness 

outbreak, this time involving the safety of a food item that we frequently 

buy, eat and serve to our families: eggs. 

Just this morning I viewed pictures taken by the Food and Drug 

Administration (FDA) at both company's egg production facilities 

during their inspections. These photos document some extremely 

unsanitary and unsightly conditions, including; a pile of chicken manure 

that has pushed open a doorway and is leaking outside of a laying house, 

dead flies covering belts that are too numerous to count, dozens of 

rodent holes, structural damage to buildings, and chicken carcasses. 

These companies must be able to account for and respond to these 

photos and I am anxious to ask FDA ifthe public should take comfort in 

the fact that these observations are not normal or if the public would be 

disturbed to find similar observations at other egg production facilities. I 

wonder if FDA will be able to answer this question considering they 

have not inspected any other egg production facility besides these two in 

the last five years. 
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To date, the Centers for Disease Control (CDC) has reported that 

over 1,500 illnesses are likely to be associated with this outbreak of 

Salmonella Enteriditis (SE) in eggs. I want to thank our first panel of 

witnesses, both victims of this outbreak, for appearing today to share 

your stories. 

This outbreak of salmonella in eggs is unique in that the 

salmonella contamination was not from the outside or shell of the egg, 

but from the inside of the egg. Test results indicate the laying hens 

themselves were infected with salmonella and the hens passed the 

contamination through to the inside of their eggs. 

One very important fact about this investigation, and perhaps an 

indication that this hearing is being held prematurely, is that the ultimate 

source of the salmonella contamination is NOT yet certain. Concerns 

about the feed given to the pullets and the unsanitary conditions at the 

suspect farms have been raised. I hope that the testimony provided today 

will move us closer to understanding the original source of 

contamination and how to prevent it from happening again. 

By early August, the epidemiological and trace-back investigations 

completed by the CDC, the FDA, and the state partners indicated a 

common source of contamination in shell eggs from a single firm owned 

by the DeCoster family called Wright County Egg in Galt, Iowa. On 

August 13, Wright County Egg issued a voluntary recall of 

approximately 380 million eggs, and on August 19, Hillanda1e Farms of 

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Iowa owned by Mr. Orlando Bethel issued a voluntary recall of eggs 

after being suspected as a potential source of contamination, bringing the 

total number of recalled eggs to over 500 million. 

Responsible corporate actors are crucial in maintaining a safe and 

reliable food industry. Companies must observe good manufacturing and 

agricultural practices, identifY and rectifY weaknesses in their safety 

systems, and respond quickly in a time of crisis. The documents and 

subsequent photographs obtained by this committee raise serious 

questions whether both of these companies were consistently 

maintaining good manufacturing and agricultural practices and striving 

to strengthen their food safety systems and plans. 

Of particular interest are documents that show test results 

completed by the Veterinary Diagnostic Laboratory at Iowa State 

University on behalf of DeCoster Farms from 2008-2010. Tests were run 

for salmonella, avian influenza, and typhoid, among other things. The 

occurrence of salmonella positive environmental samples is frequent, 

illustrated by one battery of tests completed in May, 2010 where 72 

environmental sponges were tested for salmonella and only 8 were 

negative. 

Experts who spoke to my staffhave indicated that environmental 

samples that tum up positive for salmonella may be expected on a farm 

and do not necessarily indicate that the food end-product, in this case the 

egg, is contaminated. I want to know if these findings warrant cause for 

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alarm and become troublesome if positive results become a pattern and 

are not rectified. I want to ask the DeCosters about these tests, ask what 

the company gleaned from this information and what action was taken in 

response to prevent salmonella from contaminating the finished product. 

I also want to ask Hillandale about what kinds of tests they were 

conducting for salmonella prior to this outbreak and find out if this type 

of testing was or is commonplace in the industry. 

Other documents obtained by the Committee include numerous 

Pre-Operative Sanitation Reports completed by the U.S. Department of 

Agriculture Marketing Services Inspectors show daily non-compliance 

with HACCP plans, unsatisfactory sanitary conditions, and an array of 

other observations at Wright County Egg over a four year period. I 

would like Mr. DeCoster to comment on and explain these records. 

Although FDA told my staff that eggs have historically been 

considered a "high-risk" food product, FDA did not inspect these egg 

facilities prior to this outbreak. During the inspections discussed in the 

FDA Form 483, FDA investigators noted that each company failed to 

fully implement and follow procedures in their salmonella enteritidis 

prevention plans, and now we have pictures to document these findings. 

Tests conducted in late August by FDA investigators at Wright 

County Egg were positive for the same and other strains of salmonella. 

These samples were taken from manure pits, walkways, chicken feed, 

and other surfaces. I want an up-to-date report from the companies and 

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FDA explaining where the exact matches of SE to the outbreak strain 

that caused human illness were found and how the companies and the 

FDA interpret these results. 

It is important for the FDA as well as the industry to work 

cooperatively internally, with other federal agencies, and with state 

health and agriculture departments to reduce the number of, and help 

prevent, food-borne illnesses and contamination before tainted products 

enter the markets. A new Egg Rule became effective this July that 

addresses several of the concerns associated with the eggs involved in 

this outbreak and recall. However, it took FDA over ten years to act on 

this issue, illustrating the continued systematic, problematic, and 

bureaucratic weaknesses that plague this agency. The future FDA should 

not be a reactive body dictated by the events of yesterday, but rather an 

effective and efficient proactive agency preventing the emergencies of 

tomorrow. 

Mr. Chairman I support you in conducting this investigation and 

holding this hearing, but I have to express my concern that this hearing 

has not been conducted in the most bi-partisan or useful manner. As my 

letter to you from September 9th states, I think that the most senior 

person from FDA, the CEO of FDA, the Commissioner of FDA, Dr. 

Margaret Hamburg should be here to offer the agency's official 

testimony. She and the Obama Administration have repeatedly stated 

publicly that increasing food safety and the resources of the FDA is a top 

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priority, must be taken seriously and must be quickly addressed. In the 

110th Congress, then FDA Commissioner Andrew Von Eschenbach 

appeared before this sub-committee more than four times, and offered 

testimony at a July 17, 2007 Food Safety hearing. Yet, not once has the 

current Commissioner come before this Committee to deliver the 

Agency's and the Administration's testimony and answer our questions. 

Also, the Majority declined to invite a representative from USDA 

to testifY even though the Committee sent a document request to the 

agency, held a briefing with the agency, and received thousands of pages 

of relevant information concerning their role in the regulation ofthese 

farms and this outbreak. My Committee staff obtained and reviewed 

relevant and revealing USDA documents, including USDA Shell Egg 

Plant System Audit Reports, Pre-Operative Sanitation Reports, and 

USDA inspector notes and observations from Wright County Egg and 

Hillandale Farms. This hearing would be more productive if a USDA 

official were here to answer questions related to these documents, 

discuss their role in food safety, and help identifY the gaps and problems 

with their communication with FDA and other agencies involved in 

regulating and increasing food safety. 

The ultimate goals of this hearing are the same as the ones from 

the first food safety hearing we held in this subcommittee over four 

years ago: to examine the facts, determine how to prevent future 

outbreaks and illnesses, and improve the safety and quality of the 

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American food supply. I supported the food safety legislation this House 

passed in 2009 and am eager for the Senate to move on this important 

issue. Thank you Mr. Chairman and I look forward to today's testimony. 

7 
19 

Mr. STUPAK. Thank you, Mr. Burgess. 

Mr. Waxman, Chairman Waxman, for an opening statement, 

please. 

OPENING STATEMENT OF HON. HENRY A. WAXMAN, A REPRESENTATIVE IN CONGRESS FROM THE STATE OF CALIFORNIA 

Mr. WAXMAN. Thank you very much, Chairman Stupak, for holding this oversight hearing. 

This is an important issue for us to examine, the direct-to-consumer genetic testing. The companies that are offering to do this 

recognize there is a heightened interest in the whole idea of unravelling the mysteries contained in people’s own genome and how it 

might apply to their personal health. And there has been rapid 

progress in the scientific research on human genetics, which makes 

all of us very excited. 

But we need to look at some of the statements and claims that 

are being made to the average consumer when they look at the 

Web site of some of the leading direct-to-consumer genetic testing 

companies. 

Navigenics, one of the companies that we will hear from today, 

promises on its Web site that its product offers, quote, ‘‘a new look 

at a healthier future.’’ And you can see on the screen their claims. 

23andMe, another company testifying today, offers these enticements to the potential consumer of its genetic testing kits: Quote, 

‘‘Take charge of your health. Live well at any age,’’ end quote. ‘‘Let 

your DNA help you plan for the important things in life.’’ 

Pathway Genomics, the third company testifying today, advises 

on its Web site that, quote, ‘‘Knowing how your genes may affect 

your response to certain drugs may improve the quality of your 

life,’’ end quote. 

And deCODEme, a fourth company whose genetic testing kit 

GAO reviewed, states on its Web site that, quote, ‘‘Your genes are 

a roadmap to better health,’’ end quote. 

The problem with these marketing practices is that it is not clear 

today whether the exciting scientific developments in human genetics research actually transfer into ways to improve and individualize medical care. The science informs us that there is no widespread accepted consensus linking genetic markers to many specific 

illnesses. While understanding human DNA may someday help us 

cure hundreds of serious illnesses, companies need to be careful 

that they are not overstating what they have to offer the public. 

And if a company is making a claim regarding the consumer’s use 

of its products and that person’s health, then the company should 

be subject to compliance with all applicable public health laws and 

regulations. 

Two agencies of the government share jurisdiction over direct-toconsumer genetic tests. Under the Clinical Laboratory Improvement Act, CLIA, the Centers for Medicare and Medicaid Services, 

CMS, regulates the laboratories that conduct the testing but not 

the health claims made by genetic testing manufacturers. 

The U.S. Food and Drug Administration, FDA, has jurisdiction 

over diagnostic tests, which are intended for use in the collection, 

preparation, and examination of specimens taken from the human 


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20 

body and are considered medical devices. The three companies testifying today have previously claimed that their products are not 

medical devices and, thus, do not require approval from FDA before 

they can be sold to consumers. 

In May of this year, Walgreens and Pathway Genomics announced a partnership to sell direct-to-consumer genetic testing 

kits to consumers over the counter. In response to this announcement, the FDA sent a letter to Pathway Genomics stating that 

these products fell under the oversight of FDA and that the genetic 

testing kits had not been approved by the FDA. 

Shortly thereafter, FDA sent letters to 23andMe, Navigenics 

Health Compass, and deCODE Genetics, stating their products 

were medical devices but had not been submitted for premarket review. This week, FDA approached 14 other companies on these 

issues. 

And FDA is here today to discuss their actions. I applaud FDA’s 

efforts to protect the American consumer. I hope we will hear from 

the genetic testing companies today that they will cooperate with 

FDA’s enforcement efforts. 

Our committee has also conducted its own investigation, reviewing over 450,000 documents. We have uncovered questionable marketing claims, serious quality control and privacy concerns, and 

questions about the accuracy of information provided to consumers. 

Last year, members of our committee asked the GAO to evaluate 

these issues, and GAO is going to report to us today. Three of the 

companies the GAO tested have come here to discuss their work, 

provide their insights into what the committee and GAO found. I 

thank them for their cooperation. 

In addition, Dr. James Evans, a practicing physician and expert 

in medical genetics, will give us the clinician’s perspective on the 

value of the companies’ analysis and the questions they raise. 

Thank you, Mr. Chairman. We need to ensure the public is protected against exaggerated claims, abusive marketing, and practices that threaten individual health and safety. 

[The prepared statement of Mr. Waxman follows:] 


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HENRY A. WAXMAN, CALIFORNiA 

CH/\IRMAN 

ONE HUNDRED ELEVENTH CONGRESS 

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COMMITTEE ON ENERGY AND COMMERCE 

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WASHIN(ilON, DC 20515-6115 

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Statement of Rep. Henry A. Waxman 

JOE BARTON, TEXAS 

RANKING M[MOEn 

Chairman, Committee on Energy and Commerce 

"Direct-To-Consumer Genetic Testing and the Consequences to the Public Health" 

Subcommittee on Oversight and Investigations 

.July 22, 2010 

Thank you, Chairman Stupak, for holding this important hearing. 

In the past decade, we have witnessed rapid progress in the scientific research of human 

genetics. These breakthroughs can make profound contributions to medicine and the 

improvement of public health. 

As genetic testing technology has become widespread, people naturally want to 

understand the mysteries contained in their own genome, and how it applies to their personal 

health. 

Direct-to-consumer genetic testing companies recognize this heightened interest, as 

evidenced by the marketing messages on their websites. 

Here are some of the statements the average consumer will find when they look on the 

websites of some of the leading direct-to-consumer genetic testing companies: 

Navigenics, one of the companies that we will hear from today, promises on its website 

that its product offers "A new look at a healthier future," 

23andMe, another company testifying today, offers these enticements to the potential 

consumer of its genetic testing kits, "Take charge of your health." "Live well at any age." "Let 

your DNA help you plan for the important things in life," 

Pathway Genomics, the third company testifying today, advises on its website that 

"Knowing how your genes may afTect your response to certain drugs may improve the quality of 

your life." 

And DeCODE Me, a fourth company whose genetic testing kit the Government 

Accountability Office (GAO) reviewed, states on its website that "Your genes are a road map to 

better health," 
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The problem with these marketing practices is that it is not clear today whether the 

exciting scientific developments in human genetics research actually transfer into ways to 

improve and individualize medical care. 

The science informs us that there is no widely accepted consensus linking genetic 

markers to specific illnesses. 

While understanding human DNA may someday help us cure hundreds of serious 

illnesses, companies need to be careful that they are not overstating what they have to offer the 

public. And if a company is making a claim regarding the consumer's use of its products and 

that person's health, then the company should be subject to compliance with all applicable public 

health laws and regulations. 

Two agencies share jurisdiction over direct-to-consumer genetic tests. Under the Clinical 

Laboratory Improvement Amendments (CLIA), the Centers for Medicare and Medicaid Services 

(CMS) regulates the laboratories that conduct testing, but not the health claims made by genetic 

testing manufacturers. 

The U.S. Food and Drug Administration (FDA) has jurisdiction over diagnostic tests, 

which are intended for use in the collection, preparation, and examination of specimens taken 

from the human body and are considered medical devices. The three companies testifying today 

have previously claimed that their products are not medical devices, and thus do not require 

approval from FDA before they can be sold to consumers. 

In May 2010, Walgreens and Pathway Genomics announced a partnership to sell directto-consumer genetic testing kits to consumcrs over-the-counter. In response to this 

announcement, FDA sent a letter to Pathway Genomics stating that these products fell under the 

oversight of FDA, and that the genetic testing kits had not been approved by FDA. 

Shortly thereafter, FDA sent letters to 23andMe, NaviGenics Health Compass, and 

deCODE Genetics stating their products were medical devices, but had not been submitted for 

pre market review. This week, FDA approached 14 other companies on these issues. 

FDA is here today to discuss their actions. I applaud FDA's efforts to protect the 

American consumer. I hopc we will hear from the genetic testing companies today that thcy will 

cooperate with FDA's enforcement efforts. 

The Committee has also conducted its own investigation, reviewing over 450,000 

documents. We have uncovered questionable marketing claims, serious quality control and 

privacy concerns, and questions about the accuracy of information provided to consumers. 

Last year, the Committee made a bipartisan request to the Government Accountability 

Office to evaluate these issues. GAO will report to us today. 

Three of the companies that GAO tested have come here to discuss their work and to 

provide their insights into what the Committee and GAO have found. I thank them for their 

2 
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cooperation. Additionally, Dr. James Evans, a practicing physician and expert in medical 

genetics, will give us the clinician's perspective on the medical value of the companies' genetic 

analyses and the questions they raise. 

While genetic research offers great promise to improve human health, we need to ensure 

that the public is protected against exaggerated claims, abusive marketing, and practices that 

threaten individual health and safety. 

I look forward to today's hearing for an opportunity to explore these crucial issues. 

3 
24 

Mr. STUPAK. Thank you, Chairman Waxman. 

I had asked before Mr. Burgess’s opening statement that Congresswoman Slaughter from the 28th district of New York, that her 

statement be made part of my opening statement. Without objection, that will be the case. 

Next we will go to Mr. Griffith for an opening statement, please, 

3 minutes. 

OPENING STATEMENT OF HON. PARKER GRIFFITH, A REPRESENTATIVE IN CONGRESS FROM THE STATE OF ALABAMA 

Mr. GRIFFITH. Thank you, Mr. Chairman and Ranking Member, 

for this opportunity, this hearing investigating direct-to-consumer 

genetic testing. 

I would also like to thank those witnesses that are here to help 

us with this investigation. 

Today we will closely examine genetic testing and how effective 

the results have been for consumers. It is evident that, as young 

as this industry is, there are many things that need to be investigated. Providing a safe, effective product for the public is, of 

course, the main concern that we will look at today. I’m hoping this 

discussion today will bring valuable insight into the scientific and 

ethical issues surrounding the personal genomics industry. 

These tests can provide consumers with the information to motivate them to live healthier lives. The development of the tests can 

help individuals identify if they are at risk for particular medical 

conditions and seek out specific medical treatments. On the other 

hand, if the tests are inaccurate, it can lead to confusion, fear, or 

misdiagnosis, and even unnecessary testing and death. 

In addition, for the average consumer, the results of these tests 

can be too confusing and too complicated for individuals and their 

families to deal with. It is vital we prepare consumers with the 

background knowledge and tools they need to interpret their own 

genetic data in a safe and informed manner. 

There have already been evidences of consumer fraud, and we 

must make sure that this does not continue. 

As a physician for 40 years, I understand how important it is to 

provide accurate health care information to individuals so they can 

make important medical decisions. We need to ensure that, moving 

forward from today, that these companies have this same goal. The 

answer may not be to take these tests away from the public use, 

as they could be helpful in prevention of disease, but we do need 

to drive a discussion today on how to better protect the public. 

I might say that the diseases that draw the most attention are 

cancer, Alzheimer’s—those we fear the most. If I were to stand up 

and pull a snake out of my pocket right now and throw it into this 

audience, very few of you would decide whether it was poisonous 

or not; everybody would be headed for the door. 

No one is more vulnerable to medical fraud than the concerned 

individual about a family history or a disease. No one is more sensitive to the mysteries of their bodies and genetic testing. And so 

the marketing of this particular aspect of medicine is fraught— 

fraught—a minefield of fraud and abuse, pushed by the profit motive, which we admire, but we do know in medicine it can be a 

problem. 


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So, with that, I appreciate it very much, Mr. Chairman. Thank 

you. 

Mr. STUPAK. Thank you, Mr. Griffith. 

Ms. DeGette for an opening statement, please. 

OPENING STATEMENT OF HON. DIANA DEGETTE, A REPRESENTATIVE IN CONGRESS FROM THE STATE OF COLORADO 

Ms. DEGETTE. Thank you very much, Mr. Chairman. I want to 

thank you for holding this hearing on a very important and cutting-edge issue. 

Ever since the Human Genome Project was completed in 2003, 

invigorated scientific interest in genetic analysis and testing has 

led to complex breakthroughs and now to a process so streamlined 

it can be marketed directly to the individual consumer. So, today, 

because of this, we stand at a moral, ethical, and health crossroads, 

where a significant examination from regulatory agencies is absolutely critical. 

Without a doubt, advances in the field have created opportunities 

for consumers to improve their health through the early detection 

of certain genetic predispositions. For example, when the technology warns somebody that they are at risk for diabetes in enough 

time to make significant lifestyle changes in the form of diet and 

exercise, this helps stave off the onset of the disease. And, in addition, knowledge of an individual’s unique genetic composition will 

allow doctors to give medicine for treatment that they know the 

bodies of the patients will not reject. 

But as we move forward, we have to do so cautiously. Intertwined with the promise of direct-to-consumer genetic testing are 

the perils of what can happen when this information is used inappropriately. 

As a threshold matter, the information provided through directto-consumer genetic testing must remain private. When President 

Bush signed GINA, the Genetic Information Nondiscrimination 

Act, in 2008—and this committee worked for many years on that 

legislation—it was an important step towards ensuring a person’s 

genetic composition would not subject them to maltreatment at the 

hands of insurance agencies and employers. So, today, faced with 

the reality of genetic testing becoming infinitely more available and 

more prevalent, it is even more imperative that we make sure that 

each and every individual’s privacy is ensured. 

Of equal importance to this is that easily identifiable scientific 

standards are adopted across the board. Before becoming the director of the NIH, Dr. Francis Collins, in researching his book, ‘‘The 

Language of Life: DNA and the Revolution of Personalized Medicine,’’ was shocked to find out—and some of you here know this. 

When he sent his own genetic sample to the three leading companies, the results he received in return differed. With the potential 

volatility of this information, such inconsistencies are impermissible. So we have to have a recognizable set of standards. 

You know, Dr. Collins, what he did when he got these three results that differed so much, he just went back in and just tested 

his own genome because he can do that. The average consumer 

cannot conduct independent verification tests. 


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And, in addition, they need some help from their doctors to figure 

out exactly what these test results mean, what the emotional and 

physical burden will be. All of these things are important. 

I’m excited about the potential for genetic testing, Mr. Chairman, 

but I also think we need to make sure that we have all the protections available. 

Mr. STUPAK. Thanks, Ms. DeGette. 

Mr. Latta, opening statement, 3 minutes. 

OPENING STATEMENT OF HON. ROBERT E. LATTA, A 

REPRESENTATIVE IN CONGRESS FROM THE STATE OF OHIO 

Mr. LATTA. Thank you, Mr. Chairman, Ranking Member Burgess. Thank you very much for holding this subcommittee hearing 

on direct-to-consumer genetic testing and the consequences to the 

public health. 

Advances in technology led to incredible discoveries in the field 

of genetics and that an individual can take a simple test in order 

to find out if he or she is predisposed to certain diseases. Such developments have many potential applications to consumers, and I 

believe that this is an area that is an important step in the direction of giving individuals more power over their own personal 

health decisions. 

The rapidly growing field of genetic testing symbolizes the entrepreneurial spirit and innovation that makes America great. The 

possibility of excessive government regulations, which would and 

could effectively put an end to an increasing technology, should not 

be our goal. Rather, since the field of genetic testing is still developing, it is important to bring together all the stakeholders to discuss the ethical and health implications and spur the industry to 

address these concerns. 

Furthermore, we must examine the privacy implications for individuals having access to report on their own personal DNA. The potential for fraud and disclosure of personal information necessitates 

a close examination of the industry. 

Mr. Chairman, again, thank you very much for holding this hearing on direct-to-consumer genetic testing. I look forward to hearing 

the testimony today from our witnesses. And I yield back. Thank 

you very much. 

[The prepared statement of Mr. Latta follows:] 


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Congressman Robert E. Latta 

The Committee on Energy & Commerce 

Subcommittee on Oversight and Investigations 

Opening Statement For the Record 

September 22, 2010 

MR. CHAIRMAN; RANKING MEMBER BURGESS: Thank you 

for holding this subcommittee hearing on the outbreak of Salmonella in 

eggs, as incidences of contaminated food products are a serious concern 

for public health. I am very glad that the two witnesses on our first 

panel who were affected by these eggs are on the road to recovery and 

are able to be with us today. 

This hearing is also of great concern to me because egg production 

is critical to my state, Ohio, which is the second-largest egg producing 

state in the nation, with 7.1 billion eggs. Many of you have heard me 

say that I represent the largest manufacturing district in Ohio, but I also 

represent the largest agriCUlture district in Ohio. Furthermore, my 

district is home to one of the top two egg producing counties in the 

nation. Ohio's egg industry produces 465.5 million eggs in my district, 

and has an economic impact of 102.4 million dollars. 
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Ohio is also one of the ten states with an egg quality assurance program 

with the aim to minimizing Salmonella in eggs. 

First of all, I think it is important that we remember that the 

purpose of this hearing is to get the facts. While we have the FDA form 

483 with general observations about the conditions at the Wright County 

Egg and Hillendale Farms operations in Iowa that are being investigated, 

we do not yet have the Establishment Inspection Report which will 

provide more clear answers. Furthermore, I am disappointed that the 

FDA Commissioner is not here to testifY, nor is a representative from the 

USDA. 

We need to get answers and hear what went wrong from these 

producers so that the industry learns from this recall. We do not want 

the public to lose confidence in our egg producers. 

Several ofthe egg producers in my district are fourth generation 

farmers and have been committed to producing a safe, healthy product 

for years. Ifwe have over-burdening regulations that are placed out 

there, many of these farmers may be forced out of business -

unfortunately, preventing a fifth-generation from being able to farm. 
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The safety and security of the nation's food supply is of utmost 

importance to me. Mr. Chairman, thank you for this opportunity, and I 

look forward to hearing the testimony from the witnesses on the panel 

today. I would also like to submit a document for the record from the 

Ohio Poultry Association on egg facts in Ohio. 
30 

Mr. STUPAK. Thank you, Mr. Latta. 

Ms. Christensen for an opening statement, please. 

OPENING STATEMENT OF HON. DONNA M. CHRISTENSEN, A 

REPRESENTATIVE IN CONGRESS FROM THE VIRGIN ISLANDS 

Ms. CHRISTENSEN. Thank you, Mr. Chairman. 

I will admit a bias. As a physician, I was never a fan of directto-consumer advertising. And the direct-to-consumer genetic testing 

raises even greater concern and poses even more serious consequences. 

Having information regarding one’s health is important. The 

more, the better. But having the kind of information genetic testing 

could provide without the guidance, the analysis, and the interpretation of a health professional can and apparently has already led 

to wrong assumptions and wrong decisions. 

So even before seeing the results of the GAO study, I had serious 

doubts—doubts about the claims of the testing, about the cost, and 

about the diversity of the genetic pool. Clients may be duped into 

thinking they could get the genetic analysis by paying the costs of 

the tests when, in some cases, that is an additional cost, a higher 

cost, that some can’t afford. 

The gross underrepresentation of African Americans and other 

minorities in clinical trials has impacted the kind of information we 

could receive from the kind of genetic testing generally offered. It 

is my understanding that, because of this, results may come back 

with no information on some of the diseases that cause some of the 

major health disparities. And this is after the client has paid for 

the information that they don’t get. 

I had to be, and I’m sure my colleagues had to be, clear certified 

to do simple tests in our office, where I could sit and counsel the 

patients myself. Although GAO showed that the information they 

receive is generally meaningless, to think that such testing could 

be done and reported in such an unregulated manner is appalling. 

I commend the FDA for taking this issue on and the subcommittee for asking for the investigation. And I thank you, Chairman Stupak and Ranking Member Burgess, for holding this hearing. 

I yield back my time. 

Mr. STUPAK. Thank you, Ms. Christensen. 

Mr. Gingrey, opening statement, please. 

OPENING STATEMENT OF HON. PHIL GINGREY, A REPRESENTATIVE IN CONGRESS FROM THE STATE OF GEORGIA 

Mr. GINGREY. Mr. Chairman, thank you. 

I came in just in time to hear three of my colleagues give their 

opening statements, and they essentially have given two-thirds of 

my opening statement. I’m not a bit surprised that I would be in 

agreement with Dr. Christensen in regard to this. I mean, obviously, we all have some real serious concerns about how this information is used and what the patient’s understanding of it is. 

Genetic tests, indeed, hold great promise for our health care system, but the problem with these tests rests squarely on patients 

having the necessary information available to use the results effectively. According to the National Cancer Institute’s Web site, paVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00036 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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tients—this is a quote from their Web site—‘‘should be informed, 

both verbally and in writing, about the risk of getting tested, as 

well as what the tests can and cannot tell you.’’ That is a quote. 

I cannot agree more with these sentiments, as I said, expressed by 

my colleagues. 

Personal genetic testing kits, on the other hand, are generally 

sold to patients through the Internet, as I understand it. These 

tests can require that patients send their DNA sample through the 

mail and check the results of their test online, hopefully in a secure 

manner. 

As a provider myself of 31 years, I am very concerned with the 

process I just described. I don’t see much opportunity to educate 

patients about the strengths and weaknesses of these tests, what 

test results can and cannot teach patients, and how these results, 

most importantly, should be interpreted. You have a lot of hypochondriacs out there in this country, and we are going to make maniacs out of them, I fear. 

Tests such as these, they may offer great insights into our health 

status, but the process by which these tests are conducted and analyzed should include the sound advice of a qualified medical provider, like Dr. Christensen. Without the benefit of such medical insight, I fear patients may jump to wrong conclusions—indeed, they 

may even jump off a building—and create snap medical decisions 

simply out of fear or ignorance. Therefore, I believe that patients 

should have the benefit of medical advice when considering such 

test results. 

With that thought in mind, I look forward to the testimony of all 

of our witnesses, both panels, in exploring this issue in greater detail. 

I’ve got a few more seconds left. And so quickly—Mr. Chairman, 

this might not surprise you—before I yield back, I would be remiss 

if I didn’t once more use my opening statement to ask for a congressional hearing on our new CMS administrator, Dr. Berwick. 

This committee, Energy and Commerce, Oversight and Investigation, this subcommittee seems like an appropriate place to ask Dr. 

Berwick about his thoughts on health care rationing and whether 

it is now the philosophy of our Medicare program, or whether Dr. 

Berwick still believes that a humane health care system should 

transfer the wealth and resources from the rich to the poor. 

These are valid questions, questions for which I want answers, 

questions for which my constituents want answers. And I would 

like to believe that finding these answers is not a partisan endeavor, but one we can accomplish together. It is true that I may not 

agree with some of my colleagues on what the substance of those 

answers should be, but I think we should all be able to agree that 

getting answers to these questions is of utmost importance. 

And, Mr. Chairman, with that, I yield back, having used 23 extra 

seconds. And I appreciate your indulgence. 

Mr. STUPAK. That concludes the opening statements by members 

of the subcommittee who are present. So we have our first panel 

of witnesses at the table before us. 

On our first panel, we have Dr. Jeff Shuren, director of the Center for Devices and Radiological Health at the Food and Drug Administration; and Mr. Gregory Kutz, managing director of forensic 


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audits and special investigations at the Government Accountability 

Office. 

It is the policy of this subcommittee to take all testimony under 

oath. Please be advised that you have the right, under the rules of 

the House, to be advised by counsel during your testimony. Do either of you wish to be represented by counsel? 

Both indicated that you do not. Therefore, I’m going to ask you 

to please rise, raise your right hand, and take the oath. 

[Witnesses sworn.] 

Mr. STUPAK. Let the record reflect that the witnesses replied in 

the affirmative. They are now under oath. 

We will begin with opening statements by our witnesses. 

And, Dr. Shuren, we will start with you, please, sir. 

Doctor, I’m sorry. I guess they want Mr. Kutz to go first. 

Greg, do you want to go first then? 

Mr. KUTZ. Sure. 

Mr. STUPAK. Sorry about that, Doctor. 

Dr. SHUREN. Mr. Chairman, I am not going anywhere. 

Mr. STUPAK. Go ahead. 

TESTIMONY OF GREGORY KUTZ, MANAGING DIRECTOR, FORENSIC AUDITS AND SPECIAL INVESTIGATIONS, GOVERNMENT ACCOUNTABILITY OFFICE; JEFFREY SHUREN, M.D., 

DIRECTOR, CENTER FOR DEVICES AND RADIOLOGICAL 

HEALTH, U.S. FOOD AND DRUG ADMINISTRATION 

TESTIMONY OF GREGORY KUTZ 

Mr. KUTZ. Mr. Chairman and members of the subcommittee, 

thank you for the opportunity to discuss genetic testing. Today’s 

testimony highlights the results of our investigation into genetic 

testing products sold directly to consumers. 

My testimony has two parts. First, I will discuss what we did, 

and, second, I will discuss what we found. Also, at the end of my 

presentation, I will play audio excerpts from several of our undercover calls of genetic testing companies. 

First, we investigated four companies that have been touted as 

some of the most reputable in the industry. These companies claim 

that their tests will analyze DNA and provide genetic risk predictions for conditions such as cancer and Alzheimer’s disease. 

They claim that the results of these tests can be used by consumers 

to help prevent them from getting these diseases. 

To test the legitimacy of these claims, we purchased 10 tests 

from each of these four companies. The cost of these tests range 

from $300 to $1,000 each. For each of our five volunteer donors, we 

sent two DNA samples to each company. One of these samples 

used factual information, while the other used fictitious information, about our age and ethnicity. We used bogus identities for all 

five of our donors. 

We compared the risk predictions that we received for each donor 

for 15 diseases and made undercover calls to these companies to 

discuss our results. We consulted with several recognized experts 

in the field of genetics during all phases of this investigation. 

We also conducted interviews with each of the four companies. 

Separate from these 40 tests, we made undercover calls to 15 comVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00038 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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panies, including these four, and asked them about their test reliability, privacy policies, and their sales of nutritional supplements. 

Now that I have set up what we did, let me go to our second 

point, our key findings. 

First, all five donors received conflicting results. Assuming these 

tests are credible, one would expect that the same DNA would receive the same predictions. Not so: 68 percent of the time, our donors received different predictions for the same disease. 

For example, as shown on the monitor, Donor No. 3 was at the 

same time at below-average, average, and above-average risk for 

prostate cancer, high blood pressure, and Type 1 diabetes. By the 

way, Donor No. 3 is me. So, Mr. Chairman, as a consumer, which 

of these predictions should I believe? Dr. Burgess advised me to be 

optimistic and to believe Company No. 2. However, what I really 

believe, as do our experts, is that these results show that these 

tests are not ready for prime time. 

We also received disease predictions that conflicted with our donors’ actual medical history. For example, as mentioned, I have in 

my hand—and for those who can’t see, the monitor shows—the actual pacemaker one of our donors recently had replaced. This pacemaker controlled this donor’s atrial fibrillation, or irregular heartbeat, for the last 13 years. However, according to two of these four 

companies, this donor is at below-average risk for developing atrial 

fibrillation. So, as we’ve talked here, is this science or is this art? 

We also identified, as mentioned, deceptive and fraudulent marketing practices related to genetic testing. For example, I have in 

my hand a bag of nutritional supplements that are supposedly customized to my specific DNA. According to the sales representative, 

these supplements can treat or prevent arthritis. They can also replace prescription medications for high blood pressure and high 

cholesterol. Sounds great. The problem is that these supplements 

are illegally being marketed as a drug without the required FDA 

approval. 

One company claimed, as mentioned, that Lance Armstrong and 

Michael Phelps used or endorsed their supplements. According to 

representatives for Mr. Phelps and Mr. Armstrong, they have nothing to do with these supplements. 

Two companies claim to have a DNA test that will predict which 

sports children will excel at. And, finally, two companies told our 

fictitious consumer that she could secretly test her fiance’s DNA 

and surprise him with the results. This secret testing is illegal in 

33 States. 

In conclusion, our investigation shows that the test results that 

we received, as all of you have mentioned, are misleading and, in 

many cases, not of much value to consumers. This is particularly 

relevant today, as companies are attempting to market these tests 

in retail stores across the country. 

These results should not detract from the great promise of genetic testing and the progress made. However, consumers need to 

know that, today, genetic testing for certain diseases appears to be 

more of an art than a science. 

As I mentioned, we will now play audio excerpts from some of 

our undercover calls to genetic testing companies, and you will see 

the transcription of the conversations on the monitors as you listen. 


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[Audio clips played.] 

Mr. KUTZ. Mr. Chairman, that ends my statement. I look forward 

to your questions. 

[The prepared statement of Mr. Kutz follows:] 


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GAO 

For Release on Delivery 

Expected at 9:30 a.m. EDT Thursday, July 22, 2010 

GAO-10-847T 

United States Government Accountability Office 

Testimony 

Before the Subcommittee on Oversight 

and Investigations, Committee on Energy 

and Commerce, House of Representatives 

DIRECT -TO-CONSUMER 

GENETIC TESTS 

Misleading Test Results 

Are Further Complicated 

by Deceptive Marketing 

and Other Questionable 

Practices 

Statement of Gregory Kutz, Managing Director 

Forensic Audits and Special Investigations 

i I=: GAO Accountability'" Integrity '" Reliability 
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! GAO ~ AcoovntablUty-lntegrlly'ReIiBb!1!ty 

Highlights 

Why GAO Did This Study 

In 2006, GAO investigated 

companies selling direct-toconsumer CDTC) genetic tests and 

testified that these companies 

made medically unproven disease 

predictions. Although new 

companies have since been touted 

as being more reputablc-Time 

named one company's test 2008's 

"invention of the year"-experts 

remain concerned that the test 

results mislead consumers, GAO 

was asked to investigate DTC 

genetic tests currently on the 

market and the advertising 

methods used to sell these tests. 

GAO purchased 10 test.~ each from 

four companies, for $299 to $999 

per test. GAO then selected five 

donors and sent two DNA samples 

from each donor to each company: 

one using factual information about 

the donor and one using fictitious 

infonnation, such as incorrect age 

and race or ethnicity. After 

comparing risk predictions that the 

donors received for 15 diseases, 

GAO made undercover calls to the 

companies seeking health advice. 

GAO did not conduct a scientific 

study but instead documented 

observations that could be made by 

any consumer. To assess whether 

the tests provided any medically 

useful information, GAO consulted 

with genetics experts. GAO also 

interviewed representatives from 

each company. To investigate 

advertising methods, GAO made 

undercover contact with 15 DTC 

companies, including the 4 tested, 

and asked about supplement sales, 

test reliability! and privacy policies. 

GAO again consulted with experts 

about the veracity of the claims. 

View GAO-10-847T or key components. 

For more Information! contact Gregory Kutz at 

(202) 512-6722 or kutzg@gao 

July 22, 2010 

DIRECT-TO-CONSUMER GENETIC TESTS 

Misleading Test Results Are Further Complicated by 

Deceptive Marketing and Other Questionable 

Practices 

What GAO Found 

GAO's fictitious consumers received test results that are misleading and of 

little or no practical use. For example, GAO's donors often received disease 

risk predictions that varied across the four companies, indicating that 

identical DNA samples yield contradictory results. As shown below, one 

donor was t.old that he was at below-average, average, and above-average risk 

for prostate cancer and hypertension. 

Contradictory Risk Predictions for Prostate Cancer and Hypertension 

Source GAO 

GAO's donors also received DNA-based disease predictions that conflicted with 

their actual medical conditions--.........one donor who had a pacemaker implanted 13 

years ago to treat an irregular heartbeat wac; told that he was at decreased risk for 

developing such a condition. Ai90, none of the companies could provide GAO's 

fictitious African American and Asian donors with complete test results, but did 

not explicitly disclose this limitation prior to purchase. FUrther) follow~up 

consultations offered by tiu"ee of the companies failed to provide the expert 

advice that the companies promised. In post~test interviews with GAO, each of 

the companies claimed that its results were more accurate than th.e others', 

Although the experts GAO spoke with believe that these tests show promise for 

the future) they agreed that constuners should not rely on any of the results at this 

time. A.~ one expert said, "the fact that different companies, using the same 

samples, predict different directions of risk is telling and is important. It shows 

that we are nowhere near really being able to interpret (such tests]." 

GAO also found 10 egregious examples of deceptive marketing, including 

claims made by four companies that a consumer's DNA could be used to 

create personalized supplement to cure diseases. Two of these companies 

further stated that their supplements could "repair damaged DNA" or cure 

disease, even though experts confirmed there is no scientific basis for such 

claims. One company representative even fraudulently used endorsements 

from high-profile athletes to convince GAO's fictitious consumer to purchase 

such supplements, Two other companies asserted that they could predict in 

which sports children would excel based on DKA analysis, claims that an 

expert eharacterized as "complete garbage." Further, two companies told 

GAO's fictitious consumer that she could secretly test her fiance's DNA to 

"surprise" him with test results-though this practice is restricted in 33 states. 

Perhaps most disturbing, one company told a donor that an above average 

risk prediction for breast cancer meant she was "in the high risk of pretty 

much getting" the disease, a statement that experts found to be "horrifying" 

because it implies the test is diagnostic. To hear clips of undercover contacts, 

sec http;//www.gao.gov/produds;GAO-10~847T. GAO has referred all the 

companies it invesUgated to the Food and Drug Administration and Federal 

Trade Commission for appropriate action. 

______________ United States Government Accountability Office 
37 


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Mr. Chairman and Members of the Subcommittee: 

Thank you for the opportunity to discuss our follow-up investigation of 

genetic tests sold directly to consumers \~a the Internet. Using kits at 

home, consumers simply swab their cheeks or collect saliva and send 

these DNA samples back to a company for analysis and a report of the 

results. While the importance of genetics in individual medical care shows 

promise for the future, the usefulness of the tests these companies offer is 

much debated. 

In 2006, we investigated four companies selling direct-to-consumer (DTC) 

genetic tests that purported to use DNA to deliver personalized nutrition 

and lifestyle guidance. We testified before the Senate Special Committee 

on Aging thaI these companies misled consumers by providing test results 

that were both medically unproven and so ambiguous as to be 

meaningless. I For example, one of the results we received vaguely 

indicated that our DNA donor was at "significant risk of developing the 

age related conditions associated with elevated levels of DNA damage." 

Another stated that our donor had "faulty methylation patterns" that may 

lead to "an above-average risk for developing cardiac aging, brain aging, 

and cancer." And though some of the companies claimed that they would 

provide lifestyle advice based on a consumer's DNA, we found that they 

simply provided generally accepted health guidance linked to background 

information submitted by our donors on test questionnaires. FUrther! two 

of the companies we tested recommended costly dietary supplements that 

were in reality nothing more than inexpensive multivitamins available at 

any drug store. 

As a result of these findings, in 2006 the Centers for Disease Control and 

Prevention (CDC) in col\iunction with the Food and Drug Administration 

(FDA) and the Federal Trade Commission (FTC) issued alerts warning 

consumers to be wary of claims made by these types of DTC genetic 

testing companies. In October 2008, FiC again warned consumers that "no 

standards govern the reliabilit.y or quality of at-horne genetic tests. The 

FDA and Centers for Disease Control and Prevent.ion recommend that 

genetic tests be done in a specialized laboratory and that a doctor or 

counselor with specialized training interpret the results." 

Sites Mislead Consumers, 

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Despite these warnings, several new DTC genetic test companies have 

been touted as being morc reputable and medically accurate than those we 

tested previously; in 2008. Time magazine named one new company's test 

the "invention of the year." More recently, another company's plan to sell 

tests at retail pharmacies has drawn significant attention from the media 

and scientist..:;. However, given the scientific evidence currently available, 

many experts remain concerned that the medical predictions contained in 

the results mislead consumers. In this context, you requested that we 

proactively test DTC genetic products currently on the market ard the 

advertising methods used to sell these products to consumers. 

To investigate DTC genetic products currently on the market, we 

purchased tests, for $299 to $999, from a nonrepresentative selection of 

four of the dozens of genetic testing comparies selling kits to consumers 

on the Internet. Z Using online search terms likely to be used by actual 

consumers, we identified and selected these companies because they were 

frequently cited as being credible by the media ard in scientific 

publications ard because they all provided consumers with risk 

predictions, accessible through secure Web sites, for a rarge of diseases 

ard conditions." Although their tests are not identical, all four companies' 

Web sites contain a variation of the statement that their tests help 

consumers and their physicians detect disease risks early so that they car 

take preventive steps to reduce these risks. They also note that their tests 

are not intended to provide medical advice Of to treat or diagnose disease. 

We purchased 10 tests from each compary (40 tests in total) to compare 

risk predictions for a variety of serious illnesses and determine whether 

the companies were consistent in their predictions. We selected for 

comparison 15 common diseases and conditions that were tested by at 

least three of the four companies: Alzheimer's disease, atrial fibrillation (a 

type of irregular heart beat), breast cancer, celiac disease (a chronic 

digestive problem caused by ar inability to process gluten), colon career, 

heart attack, hypertension, leukemia, multiple sclerosis, obesity, prostate 

2The companies are not the same as the companies tested in our 2006 investigation 

3The companies also provided conswners with ancestry reports; dmg response tests; and 

predictions for various traits and characteristics, such as eye color. We focused our 

investigation on testing the companies' disease risk predictions. 

Page 2 GAO·IO·S47T 
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Table 1: Donor and Profile Information 

Donor Profile Gender Age 

Factual Male 61 

Fictitious Male 53 

Faclual Male 63 

Fictitious Male 29 

cancer, restless leg syndrome, rheumatoid arthritis, type 1 diabetes, and 

type 2 diabetes.' 

AB shown in table 1, we then selected five DNA donors and created two 

profiles for each donor, one using factual information about the donor and 

one using fictitious information, including age, race or ethnicity, and 

medical history. 

Race or Ethnicity Selected Medical History Information 

Caucasian Colon cancer, heart disease, and atria! fibrilation 

Caucasian Prostate cancer and hypertension 

Caucasian Type 2 diabetes, Alzheimer's disease, and obesity 

Hispanic Asthma and thyroid and colon cancer 

Source GAO 

Note: We did not alter the gender on the donors' fictitious profiles because we believed that this 

difference would have been eaSily identified by these companies. 

For each donor, we sent two DNA samples (saliva or a cheek swab) to 

each company-one sanlple using the factual profile and one using the 

fictitious-to determine whether altering the donors' backgrounds had any 

effect. on the companies' DNA analysis. Three of the four companies asked 

for age and race or ethnicity prior to purchase; only one asked for medical 

history information. We also made undercover telephone calls to the 

companies seeking additional medical advice for both our factual and 

fictitious donors. We then documented our observations on the test results 

and advice we received. It is important to emphasize that we did not 

4T:vpc 1 diabetes is usually fIrst diagnosed in children, teenagers, or young adults. With this 

form of diabetes, the cells of the pancreas no longer make insulin because the body's 

immune system ha.', attacked and destroyed them. Type 2 diabetes is the most common 

form of diabetes. People can develop type 2 diabetes at any age--even during childhood. 

This form of diabetes usually begins with insulin resistancE', a condition in which fat, 

muscle, and liver cells do not use insulin properly. 

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Test Results Are 

Misleading and of 

Little Use to 

Consumers 

conduct a rigorous scientific study; our observations are those that could 

be made by any consumer. To assess whether we received any 

scientifically based or medically useful information, we consulted with 

external experts in the field of genetics and incorporated their comments 

as appropriate. OUf primary consultant was Dr. James Evans, the Director 

of Adult Genetics Services at the University of North Carolina and the 

Editor-in-Chief of Genetics in Medicine, the official journal of the 

American College of Medical Genetics. After we completed our proactive 

testing, we visited each company and interviewed representatives who 

were willing to speak with us. We did not notify the companies prior to 

these visits and did not specifically disclose the results of our undercover 

testing or reveal t.he identities of our donors or the other companies that 

we t.ested. 

To investigate the advertising methods used to sell DTC genetic products, 

we reviewed the Web sites of a nonrepresentative selection of 15 genetic 

testing companies, including the 4 from which we purchased tests. We 

identified the companies by again using online search terms likely to be 

used by actual consumers. Posing as fictitious consumers, we made 

contact with these companies, both by phone and in person, seeking 

additional information about genetic testing. During these contacts, we 

asked a series of questions about the reliability and usefulness of t.est 

results) privacy policies regarding consumers' genetic infomlation, and the 

sale of supplements or ot.her products. To assess the accuracy and 

reasonableness of the marketing claims, we again consulted with external 

experts in the field of genetics. We also purchased supplements sold by 

one of the companies. 

Our findings are limited to the individual DTC genetic test companies we 

investigated and cannot. be projected to any ot.her companies. We 

performed our work frornJune 2009 to June 2010 in accordance with 

standards prescribed by the Council of Inspectors General for Int.egrity 

and Efficiency. 

The test results we received are misleading and of little or no practical use 

to consumers. Comparing results for 15 diseases, we made the following 

observations: (1) each donor's factual profile received disease risk 

predictions that varied across all four companies, indicating that identical 

DNA can yield contradictory results depending solely on the company it 

was sent to for analysis; (2) these risk predictions often conflicted with the 

donors' factual illnesses and family medical histories; (3) none of the 

companies could provide the donors who submitted fictitious African 

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American and Asian profiles with complete test results for their ethnicity 

but did not explicitly disclose this limitation prior to purchase; (4) one 

company provided donors with reports that showed conflicting 

predictions for the same DNA and profile, but did not explain how to 

interpret these different results; and (5) follow-up consultations offered by 

three of the companies provided only general information and not the 

expert advice the companies promised to provide. The experts we spoke 

with agreed that the companies' claims and test results are both 

ambiguous and misleading. Further, they felt that consumers who are 

concerned about their health should consult directly with their physicians 

instead of purchasing these kinds of DTC genetic lests. See appendix I for 

comprehensive information on the test results we received for each donor, 

Different companies often provide different results for identical 

DNA: Each donor received risk predictions for the 15 diseases that varied 

from company to company, demonstrating that identical DNA samples 

produced contradictory results. Specifically, in reviewing the test results 

across all four companies for the donors' factual profiles, we found that 

Donor 1 had contradictory results for 11 diseases, Donor 2 for 9 diseases, 

Donor 3 for 12 diseases, Donor 4 for 10 diseases, and Donor 5 for 9 

diseases. Specific examples of these contradictory predictions are listed 

below; note that some of the diseases we compared were only tested by 

three of the four companies. To facilitate comparison among companies, 

we chose to use the terms "below average," "average," and "above 

average" to describe the risk predictions we received; the exact language 

used by each of the companies is reprinted in appendix l. 

For Donor 1, Company 1 predicted an above-average risk of developing 

leukemia, while Company 2 predicted a below-average risk, and 

Company 3 reported that she had an average risk for developing the 

disease. In addition, Companies 2 and 4 told the donor that her risk for 

contracting breast cancer was above average, hut Companies 1 and 3 

found her only to be at average risk. See figure 1. 

Figure 1: Selected Contradictory Risk Predictions for Donor 1 

Source GAO 

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Companies 1 and 2 claimed that Donor 2 had an above-average risk of 

developing type I diabetes, while Company 3 reported that she was at 

below-average risk for the disease. Further, Company 2 predicted she 

was at above-average risk for restless leg syndrome, Company 1 

claimed she was at below-average risk for the condition, and Company 

4 found that she was at average risk See figure 2. 

Figure 2: Selected Contradictory Risk Predictions for Donor 2 

SOU'C€ GAO 

Company 4 claimed that Donor 3's risk of developing prostate cancer 

was above-average, Company 3 found that he was at below-average 

risk, and Companies 1 and 2 found that he was at average risk For 

hypertension, Company 3 found that he had an above-average risk of 

developing the condition, Company 2 found that he was at belowaverage risk, and Company 1 found he was at average risk See figure 3. 

Figure 3: Selected Contradictory Risk Predictions for Donor 3 

SOlJ,ee GAO 

Donor 4 was told by Companies 1 and 4 that he was at above-average 

risk for celiac disease, but Company 2 reported that he was only at 

average risk In addition, Companies 1 and 4 found that he was at 

below-average risk for mUltiple sclerosis, while Companies 2 and 3 

found that he was at average risk. See figure 4. 

Figure 4: Selected Contradictory Risk Predictions for Donor 4 

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For Donor 5, Companies 2 and 3 reported an above-average risk for 

heart attacks, and Companies I and 4 identified only an average risk. 

Company 2 found him to be at below-average risk' for atrial fibrillation, 

while Companies 1,3, and 4 predicted an average risk. See figure 5. 

Figure 5: Selected Contradictory Risk Predictions for Donor 5 

~ Gender 

1tf Male 

Age 

63 

Condition 

Heart attack 

Atrial fibrillation 

Company 1 

Average 

Average 

Company 2 

Above average 

Below average 

Company 3 

Above average 

Average 

Company 4 

Average 

Average 

These contradictions can be attributed in part to the fact. that. the 

companies analyzed different genetic "markers" in assessing the donors' 

risk for disease. As described in a recent article published in the science 

journal Nature, researchers determine which markers occur more 

frequently in patients with a specific disease by conducting "genome-wide 

association studies, which survey hundreds of thousands or millions of 

markers across control and disease populations.'" DTC companies use 

these publicly available studies to decide which markers to include in their 

analyses, but none of the companies we investigated used the exact same 

markers in its tests. For example, Company I looked at 5 risk markers for 

prostate cancer, while Company 4 looked at 18 risk markers. 

In our post-test interviews) representatives from all four companies 

acknowledged that, in general, DTC genetic test companies test for 

different risk markers and that this could result in companies having 

different results for identical DNA. When we asked the representatives 

whether they thought that. any DTC genetic test companies currently on 

the market were more accurate than others, all claimed that their own 

companies' tests were better than those offered by their competitors. For 

example) Company 1 said that it offers consumers more information than 

other companies because its results are based on both preliminary 

research reports as well as clinical data, Company 2 claimed that other 

companies do not test for as many markers as it does and that while none 

PIn a "research" report contained in the test result.>:;, Company 1 also found this donor to be 

at below-average risk for atrial fibrillation, These conflicting reports will be discussed later 

in the testimony. 

6Pauline C. Venture, An Agendajor 

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of the companies are "wrong," using more markers is "probably more 

accurate." Company 2 also stated that disparate test results from different 

companies are "caused, in part, due to a lack of guidance from the federal 

government, CDC in particular." Company 3 similarly claimed to test for 

more markers than other companies and stated that its test is "the best." 

Company 3 aiso said that there is a movement within the DTC genetic test 

industry to standardize test results, but that such standardization is a work 

in progress. Finally, Company 4 claimed that it uses stricter criteria to 

select risk markers than other companies. Company 4 also told us that it 

has been involved in a collaborative effort with other DTC genetic test 

companies to develop standard sets of markers, but stated that there are 

many unresolved differences in philosophy and approach. 

\\Then we asked genetics experts if any of the companies' markers and 

disease predictions were actually more accurate than the others, they told 

us that there are too many uncertainties and ambiguities in this type of 

testing to rely on any of the results. Unlike well-established genetic testing 

for diseases like cystic fibrosis, the experts feel that these tests are 

"promising for research, but the application is premature." In other words, 

"each company's results could be internaily consistent, but not tell the full 

story ... , [because I the science of risk prediction based on genetic markers 

is not fully worked out, and that the limitations inherent in this sort of risk 

prediction have not been adequately disclosed." As one expert further 

noted, Uthe fact that different companies, using the same samples, predict 

different ... directions of nsk is telling and is important. It shows that we 

are nowhere near really being able to interpret [such tests I." We also asked 

our experts if any of our donors should be concerned if the companies all 

agreed on a risk prediction; for example, all four companies told Donor 1 

she was at increased risk for Alzheimer's disease. The experts told us this 

consensus means very little because there are so many demographic, 

environmental, and lifestyle factors that contribute to the occurrence of 

the types of diseases tested by the four companies. 

Risk predictions sometimes conflict with diagnosed medical 

conditions or family history: Four of our five donors received test 

results that conflicted with their factual medical conditions and family 

histories. ' When we asked the experts about these discrepancies, they told 

us that the results from these DTC tests are not conclusive because the 

7Company 3 is t.he only company that asked consumers to provide medical history 

information as part of the DNA submission process. 

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tests are not diagnostic, as is noted on all of the companies Web sites. 

Because risks are probabilistic by definition, it is very likely that 

consumers will receive results from these companies that do not comport 

with their knowledge of their own medical histories. However, one expert 

noted that the discrepancies between actual health and the predications 

made by these companies also serve to illustrate the lack of robustness of 

such predictive tests. Moreover, experts fear that consumers may 

misinterpret the test results because they do not understand such 

distinctions. For example, a consumer with a strong family history of heart 

disease may be falsely reassured by below-average risk predictions related 

to heart attacks and consequently make poor health choices. In facl, one 

expert told us that "fanlily history is still by far the most consistent risk 

factor for common chronic conditions. The presence of family history 

increases the risk of disease regardless of genetic variants and the current 

genetic variants do not explain the familial clustering of diseases." Another 

expert stated that "the most accurate way for these companies to predict 

disease risks would be for them to charge consumers $500 for DNA and 

family medical history information, throw out the DNA, and then make 

predictions based solely on the family history information." Examples we 

identified include the following: 

Donor 2 has a family history of heart disease yet all four companies 

predicted that she was at average risk for ha,ing a hea.t attack. Donor 

2 also has a family history of type 1 diabetes, but Company 3 reported 

that she was at below-average risk for the disease. 

Donor 3 has a family history of heart disease, but Companies 1, 2, and 3 

reported that he was at average risk for having a heart attack and 

Company 4 reported he was at below-average risk 

Donor 4 had a pacemaker implanted 13 years ago to treat atrial 

fibrillation. However, Company I and 2 found that he was at belowaverage risk for developing atrial fibrillation,' and Companies 3 and 4 

claimed that he was at average risk. Donor 4 is also a colon cancer 

survivor, but Company 2 reported that he was at average risk of 

developing the disease. 

SIn another report contained in the test results, Company 1 also found this donor to be at 

average risk for atrial fibrillation. These conflicting reports will be discussed later in the 

t.estJinony. 

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Donor 5 has Type 2 diabetes, but Companies 1, 2, and 3 indicated that 

he had an average risk of developing the disease, Donor 5 is also 

overweight, but all four companies found him to be at average risk for 

obesity, 

In our post-test interviews, representatives from all four companies 

reiterated that their tests are not diagnostic, but they all believe that their 

tests provide consumers and their doctors with useful information, 

Specifically, Company 1 stressed that its tests empower consumers to 

recognize their risk of developing a health-related condition and then take 

the information to a doctor for further discussion, Company 2 emphasized 

that its tests provide consumers with the "incentive" to be "aggressive" 

about their health, while Company 3 said its goal is to "empower 

individuals with information to help them make necessary lifestyle 

changes," Similarly, Company 4 stated that its risk predictions are a useful 

first step in that they offer "something for the consumer and their 

physician to consider in deciding whether or when to proceed with more 

inv3..<;ive or costly tests." However, experts we spoke with cautioned that 

most doctors are not adequately prepared to use DTC genetic test 

information to treat patients, In addition, experts noted that there is 

currently no data or other evidence to suggest that consumers have taken 

steps to improve their health as a result of taking DTC genetic tests, As 

one expert noted, "even if such information is found to be an especially 

effective motivator of behavioral change) we're in trouble, . > because for 

everyone you find who is at increased disease risk, you'll find another who 

is at decreased risk. So if this information is actually powerful in 

motivating behavior then it will also motivate undesirable behaviors in 

those found to be at low risk." 

Fictitious profiles did not receive complete test results: Many of 

these studies the companies use to make risk predictions apply only to 

those of European ancestry, Consequently, our fictitious Asian and African 

American donors did not always receive risk predictions that were 

applicable to their race or ethnicity, although the companies either did not 

disclose these limitations prior to purchase or placed them in lengthy 

consent forms, The experts we spoke to agreed that these limitations 

should be "clearly disclosed upfront" and suggested that our fictitious 

donors try to get their money back. Companies 2 and 3 did give us a 

refund, but Company I refused and company 4 never responded to our 

request In our post~test interviewsj company representatives 

acknowledged that race and ethnicity do affect clisease risk predictions, 

but that most genetic research has only been done on persons of European 

ancestry and therefore such individuals receive more accurate results. 

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Representatives from Company I also said that the company can provide 

only current information and that one of its primary goais is to expand 

upon this research by collecting DNA from as many persons as possible. 

Further, Companies 2 and 4 stated that they believe they communicate this 

limitation to consumers on their Web sites or in their test result reports, 

though our observations do not support this claim. Examples of the 

discrepancies we identified include the following: 

Company 1 provided Donor l's fictitious African American profile with 

test results based on her race for just 1 of the 15 diseases we 

compared: type 2 diabetes. For the remaining diseases, Company 1 

provided a risk prediction but included a disclaimer, such as "this 

result applies to people of European ancestry. We cannot yet compute 

more precise odds" for those of African American descent. However, 

Company 1 did not explicitly disclose the fact that African Americans 

would receive incomplete results prior to purchase, even though it did 

ask consumers to specify their ethnicity as part of the purchase 

process. The company only vaguely refers to any testing limitations on 

the first page of its consent form, which states that "gene/disease 

associations are typically based on ethnicity and the associations may 

not have been studied in many world populations and may not apply in 

the same or similar ways across populations." 

Company 2 claimed on its Web site that it had "better coverage [of 

genes] associated with the most important diseases for all ethnicities" 

than its competitors. However) the company provided Donor 2's 

fictitious Asian profile with test results for just 6 of the 15 diseases we 

compared. Thc company did not explain these discrepancies and did 

not disclose the testing limitations prior to purchase, even though it 

requested that consumers specify their race or ethnicity as part of the 

purchase process. The only references to these limitations are made in 

the "frequently asked questions" section and on page six of an eightpage service agreement, where the company notes that "the genetic 

result reported may in some cases only be applicable to a certain group 

of people, e.g. based on gender, ethnicity, lifestyle, family history etc. 

that you mayor may not belong to." 

Company 3 sent Donor 3's fictitious African American profile results 

for just 3 of the 15 conditions we compared. The company did not 

disclose this limitation prior to purchase even though it requested that 

consumers specify their race or ethnicity during the purchase process. 

For 10 of the 15 conditions we compared, Company 4 sent all of our 

donors results that applied only to individuals of European ancestry. 

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However, for restless leg syndrome, the predictions were accompanied 

by the following statement: "most conditions have only been studied in 

people of European ancestry. But. this condition is a lit.tle different." 

For atrial fibrillation, colon cancer, t.ype 2 diabetes, and heart. attack, 

the predictions were accompanied by the following statement "most 

conditions have only been studied in people of European ancestry, but 

this one also has been studied in other groups." The company provided 

no additional explanation as to how t.hese differences applied t.o our 

donors. The only other reference to testing limitations is made on page 

five of a nine- page consent form, where the company notes that "most 

of the published studies in this area of genetic research have focused 

on people of Western European descent. We do not know if, or to what 

extent, these results apply to people of other backgrounds." 

Company 1 provided conflicting predictions for the same DNA 

within the same test result report: Company 1 provided our donors 

with conflicting risk predictions for atrial fibrillation, celiac disease, and 

obesity. In reviewing the test results for just the factual profiles, we 

observed the following: 

Donor 1 received a "clinical report" predicting that she had an average 

risk for developing atrial fibrillation and a "research report" stating t.hat 

she wa..<; at below-average risk for the disease. 

Donor 2 received a "clinical report" stat.ing that she was at belowaverage risk of developing celiac disease and a "research report" 

claiming that she was at above-average risk. 

Donor 4 received one "research report" claiming that was at aboveaverage risk for obesity and another "research rcport" stated that he 

was at average risk. 

According to information in the test results, the company distinguishes 

between clinical and research reports by noting that predictions based on 

the dinical reports are for "conditions and traits for which there are 

genetic associations supported by multiple, large, peer~reviewed studies. >l 

In contrast, the research repolis provide information "that has not yet 

galned enough scientific consensus to be included in our clinical reports." 

However, there is no additional information explaining how consumers 

should interpret the results. Because the company does not offer any 

follow-up consultations on test results, our fictitious donors could not 

request clarification. When we interviewed representatives from Company 

1 about this issue after our testing, they simply reiterated the information 

cont.ained in the results, describing research reports as being peer 

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reviewed and "almost clinical" but noting that clinical reports are "four 

star" in that they are widely accepted according to scientific standards. 

Follow-up consultations provide only general information: As part 

of the test results, all four companies provide generally accepted health 

information related to the diseases that were tested, including a 

description of symptoms, treatments, and methods of prevention. This 

information is not targeted to specific consumerSj all of our donors! results 

contained the sanle descriptions of treatments and methods of prevention, 

regardless of the risk predictions they received. For example, all the 

companies note that stopping smoking and increasing exercise are ways to 

reduce the risk for heart attacks. Representatives for Company 4 also 

encouraged consumers to make dietary changes such as adopting a 

Mediterranean diet or eating curry to prevent Alzheimer's disease, claims 

that cannot be proven, according to our experts. To supplement this 

information, Companies 2, 3, and 4 offer follow-up consultations.' Only 

Company 4 has U.s. board-certified genetic counselors on staff for this 

purpose, but all three companies claimed on their Web sites that their 

representatives would help consumers understand the implications of 

their disease risk predictions. However, for the most part, these 

representatives provided our donors with little guidance beyond the 

information contained in the test reports; at times, it seemed as though 

they were simply reading information directly from these reports. When 

our donors asked for more information on alarming results that indicated 

that they were at increased risk for serious diseases like colon cancer and 

Alzheimer's disease, representatives for Companies 2 and 3 pointed out 

sympt.oms to be aware of, but acknowledged that there is very little the 

donors could do to mitigate these risks. Representatives for Companies 2 

and 4 also conceded that the donors' own doctors would probably not 

know what to do with the tcst results, a fact that our experts repeatedly 

noted. Examples include the following: 

Company 2 offers follow up consultations with "experts" to help 

consumers "interpret their results," In our post-test interviews, the 

company furt.her not.ed that it provides the option of speaking wit.h 

genetic counselors or a medical geneticist, but that consumers rarely 

exercise this opt.ion. Because the company is located outside the 

country, we were unable to determine whether all of its couns€lors are 

gIn our post-test interviews, Company 1 told us that it is in the process of entering into an 

agreement with a genetic counseling provider service to which the company will refer 

interested customers. 

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board certified in the Unit.ed States; however) one counselor told us 

that he was not certified. During one of our undercover follow-up calls, 

Donor 4 asked what to do about his test results in general and what 

lifestyle changes he should make as a result. The representative told 

Donor 4 that he could not tell him what to do because he was not a 

phYSician and that the donor should take his results to a physician if he 

wanted advice on making any changes. When Donor 4 expressed 

concern that his doctor may not know what to do with the test results, 

the expert told him "True, not all physicians are familiar with these 

tests, so if you were to take it into a physician's office, they may not be 

familiar with it." Furthermore, when discussing Donor 3's increased 

risk for colon cancer, one of Company 2's experts t.old our donor that 

while he should become familiar with the symptoms such as blood in 

the stool, there was not much else he could do because "colon cancer 

is quite silent." 

• Company 3 states that "because of the complexity and inherent 

uncertainties in genetiC information) we recommend that you discuss 

the results of your genetic test with a genetic professional, ",Our onstaff Genetic Counselors are available any time to review your" ,results 

with you," In our posHest interviews, the company further claimed that 

its genetic counselors are certified by the American Board of Genetic 

Counseling and that. the counselors review family hist.ory and provide 

consumers with additional infonnation that is not in the test results. 

However, our donors spoke to the same person, who admitted that she 

was not a board-certified genetic counselor. She told us that she had 

complet.ed her master's in genetic counseling and just had to take her 

test to become licensed, Donor 5 called Company 3 because he was 

extremely concerned about. the company's prediction that he had 

genetic markers that are highly correlated with Alzheimer's disease. 

Instead of providing addition information, the counselor simply 

acknowledged that "there is no cure or prevention strategy with 

Alzheimer's. " 

Company 4 notes t.hat its "genetic counselors are health care 

professionals who are tralned to help you underst.and what genetic 

information means for you and for your family." In our post-test 

interview, the company stressed that its counselors explain the results, 

discuss beneficial next st.eps, and ensure that consumers and their 

physicians understand the meaning and limitations of the tests, 

However, when Donor 2 asked what. she could do about. her test 

results, the counselor told her that she could take the results to a 

physician, When Donor 2 pressed the counselor about whether a 

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doctor would know what to do, the counselor responded "With this 

stuff' Probably not, no, I think they're learning just like everyone else." 

"Personalized" 

Supplements, Bogus 

Endorsements, and 

SCientifically Invalid 

Claims among 

Deceptive Marketing 

Practices 

Posing 3...9 consumers seeking information about genetic testing on the 

Internet and through phone calls and face-to-face meetings, we found that 

10 of the 15 companies we investigated engaged in some form of 

fraudulent, deceptive, or otherwise questionable marketing practices. For 

example, at least four companies claimed that a consumer's DNA could be 

used to create personalized supplements to cure diseases. One company's 

representative fraudulently used endorsements from high-profile athletes 

to try to convince our undercover investigators to purchase its 

supplements. He also told our fictitious consumers that they could earn 

commission checks and receive free supplements if they could convince 

their friends to purchase the products. More detailed information on our 

experiences with this company follows table 2. Another flagrant example 

of deceptive marketing involved several companies' claims that they could 

predict which sports children would excel in based on DNA analysis. We 

also found examples of highly misleading representations about the 

reliability of the tests and the ability of health care practitioners to use the 

results to help treat patients. In addition, two companies are placing 

consumers' privacy at risk by condoning the potentially illegal practice of 

testing DNA without prior consent. Selected audio clips from our 

undercover calls and meetings are available at 

http://www.gao.gov/products/GAO-1O-847T. Table 2 contains a selection of 

representations made by these companies. Note that companies 1 through 

4 are the same companies we proactively tested, as discussed earlier in 

this testimony. 

Table 2: Examples of Deceptive Marketing, Misinformation, and Questionable Practices 

Source 

Company 5 

Company 5 

Representation 

Representative claimed Michael Phelps used the 

companies' supplements. Representative also claimed that 

he would be meeting with Lance Armstrong because his 

doctors thought that test was "the most amaZing thing 

they've ever seen." 

Company representative claimed that use of the company's 

supplements cured the arthritis In his knee and prevented 

him from getting high blood pressure and high cholesterol 

He also suggested that our fictitious consumer could stop 

taking his cholesterol medication once he started taking the 

company's supplements. 

Page 15 

Comments 

Representatives for Michael Phelps and Lance 

Armstrong told us that they had never heard of this 

product and had no endorsements or dealings with 

the company. 

"Absolute ties," said one expert about these claIms. 

Experts also stated that the claims have no scientifiC 

basis and consumers could suffer serious health 

consequences if they follow this advice. Moreover, 

FDA and the National Institutes of Health have 

noted that no dietary supplement can treat, prevent, 

or cure any disease 

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Source Representation 

Companies 9 and Web sites claim to be able to predict athletic performance 

10 by analYZing DNA and also to be able to determine which 

sports children will excel in. 

Companies 1, 2, 3, Web sites and company representatives told us that 

and 4 consumers should bring test results to their physicians to 

be used as a "tool" for treatment. 

Companies 4 

and 9 

Although their Web sites state that tests are not intended to 

diagnose diseases, a representative for Company 4 

claImed that its tests were "diagnostic" and a representative 

for Company 9 claimed that its tests were "prognostic" 

when asked about their reliability. 

Comments 

one 

consumers, a company representative admitted that 

supplements are just "high-quality vitamins and 

minerals" and that diet and exercise guidelines are 

merely based on a consumer's responses to a 

questionnaire. Experts told us that there is no 

scientific basis for suggesting that supplements, 

diet, or exercise can be customized to DNA. 

"in unq-uahfied terms, {these claims} are complete 

garbage," according to one expert. 

According to the Department of Health and Human 

Services' Secretary's Advisory Committee on 

Genetics, Health, and Society, "[practitioners] 

cannot keep up with the pace of genetic tests and 

are not adequately prepared to use test information 

to treat patients appropriate!y." Therefore, direct to 

consumer genetic tests may not provide any 

substantial utility to the consumer. 

Experts described these statements as "horrifying" 

and "disconcert!ng," because they could mislead 

consumers into thinking that they have a disease or 

provide a false sense of assurance that they don't. 

In addition, experts told us that for the types of 

conditions being tested by these companies, 

multiple studies have confirmed that DNA testing 

adds little to an analYSIS of a person's weight, age, 

gender, and famlly history. 

Company 4 "You'd be In the high risk of pretty much getting it," is how a Experts also called this statement "disconcerting" 

Company 6 

Companies 3 

and 4 

representative responded when our fictitious consumer and "horrifying" because it erroneously implies that 

asked if results indicating she was at above average risk for the test can diagnose breast cancer and could 

breast cancer meant she's definitely getting the dIsease. needlessly alarm consumers. 

In response to genera! ,~quiries about genes and genetic 

testing, a representative stated that "genes are a symptom 

not a source of our biology." 

Although company Web sites require consumers to 

explicitly consent to genetic testing before submittIng a 

DNA sample, representatives from these companies told 

our fictitious consumer that she could secretly send in her 

fiance's DNA and "surprise" him with the results. 

Source: GAO 

Page 16 

An expert characterized this statement as 

"nonsensical." 

One expert characterized the companies' 

wilHngness to conduct tests without prior consent as 

"dangerous" and "irresponsible." According to the 

Johns Hopkins Genetic and Public Policy Center, 

this "surreptitious" testing could lead to people 

"learning of health risks or family relationships that 

he or she would prefer remain unknown." Currently 

33 states place some type of restrictions on 

surreptitious testing.3 

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Company 5: On its Web site, Company 5 claimed that it would use a 

consumer's DNA to "create a personalized formula for nutritional 

supplements and skin repair serum with 100% active ingredients 

individually selected to enhance or diminish the biological processes 

causing you to age,)! To investigate these claims, we posed as a fictitious 

consumer interested in purchasing the product and met in person with a 

company representative. 

During our initial meeting, the representative not only fraudulently 

suggested that Michael Phelps and representatives for Lance Armstrong 

endorsed the product, he also implied that the company's supplements 

could cure high cholesterol and arthritis, claims that one of our experts 

characterized as "absolute lies," Moreover, the FDA and the National 

Institutes of Health have clearly stated that no dietary supplement can 

treat, prevent, or cure any disease, As part of the company's promotional 

materials we found that the company's DNA assessment cost $225 and that 

the customized supplements cost about $145 per month. However, if our 

fictitious consumer immediately purchased a 3,month supply of 

supplements, she would be able to get the DNA test for free, The 

representative also told her that she could become a company affiliate and 

earn commission checks and free products by recruiting new affiliates. 

She, along with another fictitious consumer, subsequently registered as 

company affiliates, and ultimately received commission checks totaling 

more than $250. In addition to sending us the test kits, the company sent 

us packages of starter supplements in a bag that was not labeled with an 

ingredient list. 

In an attempt to compare the test results from Company 5 with the results 

we received from Companies I through 4, we again used the same five 

donors and replicated the same methodology: submitting DNA samples 

using one factual profile and one fictitious profile. However, when we 

received the results, we found that Company 5 did not provide a set of risk 

predictions for specific diseases, making it impossible for us to compare 

the results against those we received from the other four companies. 

Instead, the company sent our donors a list of gene variants tested, a 

description of bodily functions affected by those variants, and a 

determination of whether the donors needed additional "nutritional 

support" to maintain health. In comparing the results, we found that each 

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donor appeared to have a unique assessment and that using the fictitious 

profile did not seem to affect the results. However, the results were so 

ambiguous and confuSing that they did not pro\~de meaningful 

information. For example: 

Donor 1 was told that she needed "maximum support" to maintain the 

"VDR gene" which account., for "75% of the entire genetic influence on 

bone density" among healthy people. Maximum support means that the 

"protein molecule expressing a specific enzyme, hormone, cytokine or 

structural protein is functioning minimally" and maximum nutritional 

support is needed to keep t.he body functioning optimally. 

Donor 5 was told that he needed "added support" to maintain the 

"EPHX" gene, which "detoxifies" epoxides or "highly reactive foreign 

chemicals present in cigarette smoke, car exhaust, charcoal-grilled 

meat., smoke from wood burning, pesticides, and alcohol." "Added 

support" means that the gene is functioning less than optimally and 

therefore needs added nutritional support. 

According to one of the experts we spoke with, these clalms are simply 

"nonsensical" and "while it is true that one can find alleles'" of many of 

these genes that don't have the same activity as 'normal: we have no idea 

of (a) whether that reduced activity has any real health implications and 

(b) what one would reasonably do about it if so." 

Along with the test results, the company sent supplements that it claimed 

were "blended" based on our donors' DNA assessments. The supplements 

arrived in the same type of unlabeled bag as the starter supplements. This 

time, the ingredients were printed inside the test result booklet sent to 

each donor and included substances such as raspberry juice powder, 

green tea extract, and garlic powder. The recommended daily dose is 10 

supplements per day. Based on a review of all the ingredient lists, our five 

donors appeared to get supplements with different combinations of 

substances, However, \ve did not test the supplements to verify their 

contents. Moreover, an expert we spoke with told us that there is no 

scientific basis for claiming that supplements can be customized to DNA. 

In post-test int.erviews, Company 5 told us that this company differs from 

others in t.hat. it. does not attempt to diagnose or calculate a predisposition 

WAn allele is one member ofa pair or series of genes that occupy a specific position on a 

specific chromosome. 

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Corrective Action 

Briefings 

Contacts and 

Acknowledgments 

to any disease. Instead, the company said that it focuses on the overall 

healt.h and well-being of their clients by creating personalized nutritional 

supplement.s based on t.heir client.'s specific DNA. When we asked about. 

the ingredients in the supplement.s, the company told us that. all 

supplempnts have a base formula of ingredients that their scientists have 

determined to be "beneficial for everyone." Additional nutrients are then 

added to the base formula based on deficiencies identified by the 

company's DNA test. When we asked about the endorsements, we were 

told that several celebrities and professional athletes use the company's 

products, but that many of these high-profile clients do not want to 

disclose this affiliation. 

We briefed FDA, the National Institutes of Health, and FTC on our findings 

on May 25,2010; June 7, 2010; and June 17, 2010, respectively. In addition, 

we have referred all the companies we investigated to FDA and FTC for 

appropriate action. 

Mr. Chairman, this concludes my statement. I would be pleased to answer 

any questions that you or other members of the committee may have at 

this time. 

For additional information about this testimony, please contact Gregory D. 

Kutz at (202) 512-6722 or kutzg@gao.gov. Contact points for our Offices of 

Congressional Relations and Public Affairs may be found on the last page 

of this st.atement The following individuals made key contributions to this 

testimony: ,Jennifer Costello and Andrew O'Connell, Assistant Directors; 

Eric Eskew; Grant Fleming; Christine Hodaldevic; Barbara Lewis; Vicld 

McClure; Ramon Rodriguez; Anthony Salvemini; Barry Shillito; Tim 

Walker; John Wilbur; and Emily Wold. 

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Appendix 1: Test Results by Donor 

This appendix provides (1) a description of both the factual and fictitious 

profiles used by each donor and (2) tables documenting the risk 

predictions we received from all four companies for the 15 diseases we 

compared. 

To t.he extent possible, we have used in the risk prediction language 

directly from the test. results. However, Company 2 did not use terms like 

"average" or "below average" to describe risk. Inst.ead the company used 

charts showing each consumer's risk level as compared to others with the 

consumer's gender and ethnicity or as compared to those of European 

ancestry. The results were color coded, with green to light green appearing 

to correspond to a below-average risk level, yellow corresponding to an 

average risk level, and orange and red corresponding to an above~average 

risk level. To facilit.ate comparison, we chose to use these corresponding 

terms to describe the results, as shown in t.he table. In addition, Company 

1 used two different types of reports in its test results: clinical and 

research. According to the company, the clinical reports contain 

"information about conditions and traits for which there are genetic 

associations supported by multiple, large, peefMreviewed studies." 

Research reports contain "information from research that has not yet 

gained enough scientific consensus to be included in our clinical reports," 

Where applicable, we noted when a risk prediction was derived from a 

research report; all the other predictions were derived from the clinical 

reports. 

Donor 1: Donor 1 is a 37 -year old Caucasian female, who eats a balanced 

diet and exercises regUlarly. She has elevated cholesterol and arthritis in 

her back. In addition, she has a strong family history of colon cancer and a 

grandparent who was diagnosed with dementia. In Donor 1's fictitious 

profile, she is a 58-year old, African American female, who is overweight 

and rarely exercises. She has type 2 diabetes, hypertension, and asthma, 

but has no family history of colon cancer or dementia. 

Table 3: Comparison of Test Results for Donor 1 

Risk predictions 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Alzheimer's disease Factuat Not tested Above average Increased susceptibility Above average 

.~ __ ----cFo-ic_tit_iOUS Not tested Not tested Increased susceptibility Above average 

Atnal tibnUation Factual TYPical and decreased Average Average predisposition About average 

(research) 

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Risk predictions 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Fictitious Typical and decreased Not tested Not tested About average 

(research) 

Breast cancer Factual Typical Above average Average predisposition Greater than most 

women's 

Fictitious TYPical Not tested Average predisposition Greater than most 

women's 

Celiac disease Factual Decreased and typical Average Not tested Below average 

(research) 

Fictitious oecrea_s_ed-;-____ -,N;-o;ct t_e_st_ed--c __ -N;-o-t-te-st-e-d--,-,c_--cc--""B-;el-ow-a-ve-ra.c9:-.e----

Fictitious Elevated Not tested Not tested 

Type 2 diabetes Factual Typical Average Average predisposition Below average 

Fictitious Typical Below average Average predisposition Below average 

SOl/fee: GAO anatyslsoirasultslrol'1 f(lUfcompan[es 

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Donor 2: Donor 2 is a 41-year-old Caucasian female. She is in good health; 

however she has a family history of breast cancer, type I diabetes, and 

heart disease. In Donor 2's fictitious profile, she is a 19-year-old Asian 

female who smokes, drinks and uses recreational drugs. She suffers from 

heart arrhythmias and an elevated resting heart rate, but has no family 

history of breast cancer or diabetes. 

Table 4: Comparison of Test Results for Donor 2 

Risk predictions 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Alzheimer's disease Factua! Not tested Below average Do not show strong Below average 

Fictitious TYPical and typical (research) Increased susceptibility About average 

Prostate cancer Factual Not applicable Not applicable Not applicable Not applicable 

Fictltious Not applicable Not applicable Not applicable Not applicable 

Restless leg syndrome Factual Decreased Above average Not tested About average 

Fictitious Decreased Not tested Not tested Abut average 

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Risk p"redictlons 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Rheumatoid arthritIS Factual Decreased Below average Do not show strong Below average 

FiCtitious Elevated Not tested Increased susceptibility Not tested 

Type 2 diabetes Factual Typical Average Average predisposition About average 

Fictitious "'T-yp,-'c"""a7,---"-----cA""b-ov-e:'-a-v-ce-:ra-g-e-;A-v-er-a'g-e-p-r-ed7is-p-o-s,CCtio-n---A"b-o-ut:-a-v-er-:aCCgeSQ\ifCe GAO ana!ys's of '"sults fmm !O,Jf compan,es 

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Donor 3: Donor 3 is a 48-year-old Caucasian male who has never smoked 

and rarely drinks. The donor has asthma as well as a family history of 

heart disease. In Donor 3's fictitious profile, he is a 69-year-old African 

American male who is overweight! smokes, and is in somewhat poor 

health. He has a family history of bone and lung cancer, but no history of 

asthma or heart disease. 

Table 5: Comparison of Test Results for Donor 3 

Risk predictions 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Alzheimer's disease Factua! Not tested Average Increased susceptibility Above average risk 

FictItious Not lested Not tested Increased susceptibility Above average 

Atrial fibrillation Factual Typical and decreased Average Average predisposition About average 

(research) 

Fictitious Typical and decreased Not tested Not tested About average 

(research) 

B;east cancer Factual Not applicable Not applicable Not applicable Not applicable 

FictitiOUS Not applicable Not applicable Not applicable Not appllcab!e 

Celiac disease Factua! Decreased and typical Below average Not tested Below average 

(research) 

Fictitious Typical Belowaverage Average predisposition Greater than most men's 

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Risk predictions 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Restless Jeg syndrome Factual E!evated Average nsk Not tested Higher than most people 

Fictitious Elevated Not tested Not tested Higher than most people 

Rheumatoid arthritis Factual Elevated Above average Average predisposition Above average 

Fictitious Elevated Not tested Not tested Above average 

Type 1 diabetes Factual E!evated Average Do not show strong Not tested 

susceptibility 

Fictitious E!evated Not tested Not tested Not tested 

Type 2 diabetes Factual TypIcal Average Average predisposition About average 

Fictitious Typical Below average Average predisposition About average 

Source GAO a%lysls Of results frO'T1 four compat'),es 

Page 25 GAO-IO-847T 
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Donor 4: Donor 4 is a 61-year-old Caucasian male who smokes. The donor 

has elevated cholesterol, ha, an elevated resting heart rate, and has had 

colon cancer. Thirteen years ago, the donor had a pacemaker implanted to 

treat atrial fibrillation. In Donor 4's fictitious profile, he is a 53-year-old 

Caucasian male who has never smoked. He has hypertension and prostate 

cancer but has no family history of colon cancer or atrial fibrillation. 

Table 6: Comparison of Test Results for Donor 4 

Prostate cancer Factual Typical Above average Average predisposition Greater than most men's 

Typical Above average Average predisposition Greater than most men's 

-------.~--~~~~--~------~~--~--~~~------~~----------

Restless leg syndrome _F_a_ct_u_al __ D_e_c_re_a_se_d ______ B_el_ow_a_ve_ra..;9;..e __ No_t_te_s_te_d ______ B_e_lo_w_a_v_er_a;;.ge ___ _ 

Fictltious 

Page 26 GAO·IO-847T 
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Type 1 diabetes 

Type 2 diabetes Factual Typical Average Average predisposition About average 

Fictitious Typical Average Average predisposition About average 

SQ~rce GAO a~.<lIY;;ls of msults from foul compan<es 

Page 27 GAO·l0·847T 
64 


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Donor 5: Donor 5 is a 63-year-old Caucasian male who eats a balanced 

diet and exercises, He has elevated cholesterol and blood sugar. The donor 

suffers from type 2diabetes and is obese, He also has a family history of 

Alzheimer's disease, In Donor 5's fictitious profile, he is a 29-year-old 

Hispanic male who chews tobacco and suffers from asthma, However, he 

has no family history of diabetes or Alzheimer1s disease. 

Table 7: Comparison 01 Test Results for Donor 5 

Fictitious Not tested 

Fictitious Typical and typical 

(research) 

Page 28 

Above average Genetic markers are Above average 

highly correlated with this 

disease 

Average Average predisposition About average 

GAO·10·847T 
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Risk predictions 

Disease or condition Profile Company 1 Company 2 Company 3 Company 4 

Prostate cancer Factual Typical Average Average predisposition Average 

Fictitious Typical Average Average predisposition Average 

Restless leg syndrome Factual Decreased Above average Not tested Higher than most people 

Fictitious Decreased Above average Not tested Higher than most people 

Rheumatoid arthritis Factual Decreased Below average Do not show strong Below average 

susceptibility 

Fictitious Typical Below average Do not show strong Below average 

susceptibility 

Type 1 diabetes Factual Elevated Average Average predisposition Not tested 

Fictitious Elevated Average Average predisposition Not tested 

Type 2 diabetes Factual Typical Average Average predisposition Above average 

Fictitious Elevated Average Average predisposition Above average 

Sou,o.' GAOaflalys'soffssultsfmmfOUfcomparJ'es 

(192324) Page 29 GAO·10-847T 
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68 

Mr. STUPAK. Thanks, Mr. Kutz. 

Dr. Shuren, your testimony, please. 

TESTIMONY OF JEFFREY SHUREN, M.D. 

Dr. SHUREN. Good morning. And I’m pleased to explain FDA’s recent activities related to direct-to-consumer genetic tests, also 

called DTC or direct access genetic tests. 

Scientific advances resulting from the Human Genome Project 

have created opportunities to better identify people at risk for particular medical conditions and to target medical treatments based 

on the chances that the patient will respond to a treatment or experience an adverse event based on their genetic profile. FDA supports the promise and development of innovative genetic tests. 

However, the field of personalized medicine will not make good 

on that promise if the in-vitro diagnostic tests doctors and patients 

rely on are inaccurate, with only a tenuous link between what the 

test measures and its clinical significance. Failure to validate the 

accuracy, reliability, and clinical implications of the test can result 

in patient harm from misdiagnosis, failure to treat, delay or inappropriate treatment, or avoidable adverse events. Those risks can 

be increased when the test is marketed directly to consumers without medical advice or genetic counseling. 

A genetic test is subject to FDA oversight only if it is a medical 

device—that is, if it is intended in the use of diagnosis, cure, treatment, mitigation, or prevention of disease. A test to determine a 

person’s risk of developing heart disease is a device, but a test to 

determine ancestry or curly hair is not a device. 

At the time of the 2006 GAO investigation, most of these 

diagnostics were nutritional genetic tests that assess what kinds of 

foods consumers should eat and dietary supplements they should 

take. FDA followed up with those companies, and FDA, CDC, and 

FTC published a cautionary statement on DTC genetic tests. 

In 2007, FDA began meeting with some of the companies that 

are the subject of the GAO’s new investigation. FDA’s Center for 

Devices did not inform these companies that they could lawfully 

market their tests without FDA oversight. Instead, the Center met 

with them to gain a better understanding of what they were doing 

or planning to do. At that time, these tests were being marketed 

for such purposes as antiquity determinations. 

Since then, though, we have seen changes in the number and 

types of claims being made. One company provided test reports for 

17 conditions in 2008 but provides over 100 types of results now. 

Some companies now are making claims about high-risk medical 

indications like cancer, about the likelihood of responding to a specific drug. In many cases, the link between the genetic results and 

the risk of developing a disease or drug response has not been wellestablished. Even the experts don’t know what the results mean. 

Marketing DTC can increase the risk of the test because a patient may make a decision without a medical professional that adversely affects their health based on a false result, such as stopping 

or changing the dose of a medication. 

More aggressive DTC marketing efforts became evident recently 

when Pathway Genomics was poised to offer their home-use salivacollection kit directly to consumers through more than 6,000 


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69 

Walgreen stores. 23andMe is marketing to consumers on Amazon.com. 

The escalation and risk in aggressive marketing caused FDA to 

notify Pathway Genomics on May 10 of this year that their offering 

appeared to meet the definition of a medical device. On June 10, 

FDA sent similar letters to four other diagnostic test firms offering 

their tests directly to consumers. FDA considers all of these products to be a medical device on the basis of the manufacturers’ 

claims about the test results. 

In addition, a letter was sent to Illumina, Incorporated, for supplying an unapproved genetic test to several of these DTC companies. 

All six companies have been invited to discuss further the regulatory status of their products with FDA. FDA is meeting with 

these companies now and may take additional actions, depending 

on the outcome of those meetings. Earlier this week, we sent similar letters to 14 other firms marketing DTC genetic tests. 

FDA supports consumers having information about their genetic 

profile. We just believe consumers should have results that are accurate, supported by sound science, and understandable. We are 

not being paternalistic; we are being patient advocates. 

I commend the subcommittee’s efforts to further the dialogue 

about the safety and effectiveness of genetic tests being marketed 

today. 

Mr. Chairman, that concludes my formal remarks. 

[The prepared statement of Dr. Shuren follows:] 


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I)EPARTMENT Of HEALTH ANI) HUMAN SERVICES Public Health Service 

Food and 

SI!ver Spring 20993 

STATEMENT OF 

JEFFREY SHUREN, M.D. 

DIRECTOR 

CE:'IlTER FOR DEVICES AND RADIOLOGICAL HEALTH 

FOOD AND DRUG ADMINISTRATION 

DEPARTMENT OF HEALTH AND HUMAN SERVICES 

BEFORE THE 

SUBCOMMITTEE ON OVERSIGHT AND INVESTIGA TIO:'IlS 

COMMITTEE ON ENERGY AND COMMERCE 

U.S. HOUSE OF REPRESENTATIVES 

July 22, 2010 

FOR RELEASE ONLY UPON DELIVERY 
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INTRODUCTION 

Good morning, I am Dr. Jeff Shuren, Director of the Center for Devices and Radiological Health 

(CDRH or the Center) at the Food and Drug Administration (FDA or the Agency). I am pleased 

to be here this morning to explain FDA's recent activities related to direct-to-consumer (DTC) 

genetic tests and our future plans for the regulation of laboratory-developed tests. 

Scientific advances resulting from the Human Genome Project completed in 2003 have expanded 

our understanding of the genetic contribution to health and disease. These advances have also 

resulted in the development of new tests that can better identify individuals at risk for particular 

medical conditions and target medical treatments based on the likelihood that a patient will 

respond or experience an adverse event based on their individual genetic profile. FDA supports 

the promise and development of innovative genetic tests. 

As Margaret A. Hamburg, M.D., Commissioner of Food and Drugs, and Francis S. Collins, 

M.D., Ph.D., Director of the National Institutes of Health, note in their jointly authored article 

entitled "The Path to Personalized Medicine," published in the June 15,2010, New England 

Journal 0.( Medicine, "Major investments in basic science have created an opportunity for 

significant progress in clinical medicine. Researchers have discovered hundreds of genes that 

harbor variations contributing to human illness, identified genetic variability in patients' 

responses to dozens of treatments, and begun to target the molecular causes of some diseases. In 

addition, scientists are developing and using diagnostic tests based on genetics or other 

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molecular mechanisms to better predict patients' responses to targeted therapy.. Together, we 

have been focusing on the best ways to develop new therapies and optimize prescribing by 

steering patients to the right drug at the right dose at the right time." 

However, Dr. Hamburg and Dr. Collins also note that the field of personalized medicine will not 

make good on that promise if the in vitro diagnostic tests on which practitioners and patients rely 

to inform treatment decisions are inaccurate or the link between what the test measures and its 

clinical significance is tenuous. Failure to validate the accuracy, reliability. and clinical 

implications of a test can result in patient harm from misdiagnosis, failure to treat. delay in 

treatment, inappropriate treatment. or avoidable adverse events. 

OVERVIEW OF FEDERAL REGULATION 

Congress gave FDA explicit authority to regulate medical devices. including in viTro diagnostic 

tests, in the 1976 Medical Device Amendments to the Federal Food. Drug. and Cosmetic Act 

(FD&C Act or the Act). In vitro diagnostic devices (lVDs) are those reagents, instruments. and 

systems intended for use in the diagnosis of disease or other conditions. including a 

determination of the state of health. in order to cure. mitigate. treat, or prevent disease or 

conditions arising from a disease. Genetic tests are a type of IVD. 

Under the Act, FDA assigns medical devices to one of three "classes" based upon their attendant 

risks. The level ofreguJation applied to IVD devices is based primarily upon risk to the patient 

of an undetected incorrect test result. 
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• Class I, subject only to general controls applicable to all devices, is the lowest risk 

category for a device. Class I IVDs include certain reagents and instruments, as well as a 

number of highly adjunctive IVD tests, where one test is dependent on the results of 

another; consequently an incorrect result would generally be detected easily. Most Class 

I devices are exempt from premarket review. An example of a Class I test is a luteinizing 

hormone test that, if it gives a false result, may lead to delayed conception but is unlikely 

to directly harm the patient. 

• Class II, generally subject to general controls and special controls, is the moderate-risk 

category for a device, and includes many standard laboratory tests, such as chemistry and 

immunology tests. Most Class II tests are subject to FDA review through premarket 

notification under section SIO(k) of the Act. For example, a false sodium result (a Class 

II test) may be life-threatening if the error is unrecognized and treatment decisions to 

correct the sodium level are made based on the false result. 

• Class III, subject to premarket approval requirements, is the highest risk category for a 

device and includes devices and tests that present a potentially unreasonable risk of 

illness or injury. For example, a false negative result for a hepatitis C virus test (a Class 

III test) may result in failure to provide appropriate treatment, leading to risk ofJiver 

failure due to delayed treatment. In addition, without the knowledge that he or she is 

infected, the patient may put others at risk by spreading the disease. 

Many IVD tests are Class II or Class III devices. and some also may be biological products 

subject to section 351 of the Public Health Service Act. In addition to premarket controls, the 

FD&C Act provides FDA with authority to perform post-market review, and monitor adverse 

events or even mandate a recall if, based on adverse event reports or other data, there is a 

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reasonable probability that a test could cause serious adverse health consequences or death in 

clinical use. 

Federal oversight of IVDs includes oversight of laboratories that perfonn these tests by the 

Centers for Medicare and Medicaid Services (CMS) under the Clinical Laboratory Improvement 

Amendments of 1988 (CLlA). and the Federal Trade Commission (FTC) under the Federal 

Trade Commission Act (FTCA). Under CLlA. CMS regulates laboratory testing activities 

performed on humans in the United States for health purposes. covering more than 200.000 

laboratory entities. FDA's role under CLlA is to categorize commercially marketed IVDs in 

terms of their complexity. This complexity categorization determines the stringency of 

requirements to which the laboratories performing the tests arc subject and the attendant 

personnel education. training, and skill level required. 

CLIA and FDA regulations complement one another. eLlA regulations focus on the quality of 

the clinical testing process, such as laboratory quality control; i.c .. daily check that the test is 

working. external accuracy chccks, credentials of laboratory personnel. and documentation of 

laboratory procedures. FDA regulations address the safety and effectiveness of the diagnostic 

tests themselves and the quality of the design and manufacture of the diagnostic tests. 

Section 5 of the rTCA prohibits unfair or deceptive acts or practiccs in or affecting commerce. 

Section 12 of the FTCA specifically prohibits the dissemination of false advertisements for 

foods. drugs, devices. services, or cosmetics. The FTC analyzes the role of advertising in 

bringing health-related infonnation to consumers and can bring law enforcement actions against 

false or deceptive advertising. 
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OVERVIEW OF FDA REGULATION OF GENETIC TESTS 

The purpose of genetic tests includes predicting risk of disease, screening newborns, directing 

clinical management, identifying carriers, and establishing prenatal or clinical diagnoses or 

prognoses in individuals, families, or populations. To date, 353 U.S, laboratories have listed 

themselves on a voluntary website that provides information about laboratories offering genetic 

tests, but estimates are that there may be as many as 700 laboratories offering such tests. 

A genetic test is only subject to FDA oversight if it is a medical device; that is, if it is intended 

for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or 

prevention of disease. For example, a test to determine a person's risk of developing heart 

disease is a device, whereas a test to determine ancestry is not a device. The type of genetic 

testing has changed over the past two decades. Whereas early tests tended to identify a single 

genetic mutation and a patient's risk for developing a disease, some newer tests evaluate 

tbousands of genes or the entire genome and report out risk for a disease based on the 

combination of dozens of genetic variations. 

There cunently are two paths to market for a genetic test used in clinical management of 

patients. as is the case for other IVDs. One is through development of a commercial test kit by 

an IVD device manufacturer for distribution to multiple laboratories. The Agency has exercised 

its regulatory authority over these products and has approved several tests for specific genetic 

factors. 

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The second pathway is through the development of a test by a laboratory for use only by that 

laboratory; these are commonly called laboratory-developed tests (LDTs). Conservative 

estimates are that there are between 2.500 - 5.000 LDTs. including genetic tests that are 

developed and offered by hundreds of different lohoratories. 

FDA has the authority to regulate LDTs as it does all lVDs. The extent of FDA oversight of an 

lVD. such as a genetic test that meets the definition of a device. is based on the risk of an 

inaccurate result from the test. not who makes the tests or their business models. However. 

although FDA has the authority to regulate LDTs, FDA has generally exerciscd enforcement 

discretion since the device law was passed in 1976. At that time tests made by laboratories were 

generally low-risk diagnostic tools or relatively simple, well-understood tests that diagnosed rare 

diseases and conditions. and which were more dependent on expert interpretation. Therefore, the 

accuracy of the results was more dependent Oil the expeliise of the pathologist/laboratorian thall 

on the design of the test. Furthermore. these LDTs were used by pathologists/laboratorians and 

the results reported to physicians within a single institution where both professionals were 

actively involved in the care of the patient being tested. Most genetic tests being offered today 

are LDTs. 

The nature oflaboratory-developed tests has changed over the last 30 years, but most 

dramatically in the last few years. Today, LDTs are increasingly used to assess high-risk but 

relatively common diseases and conditions, often are used to provide critical information for 

patient treatment decisions, rely on novel (sometimes preliminary) scientifie findings to support 

their usefulness, often require complex software and may incorporate automated interpretation in 
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lieu of expert interpretation, often are used when there are alternative tests available that have 

been cleared or approved by FDA, and are performed in commercial laboratory settings that are 

geographically separate from the patient's primary health care professional and health care 

setting. In addition, some entities marketed their tests without prior FDA review, claiming that 

they are LDTs, when they are not. Furthermore, the ability of laboratories to market tests 

without any regulatory oversight creates a disincentive for traditional manufacturers to develop 

new tests, thereby stifling innovation. 

FDA has observed the following problems with some LDTs in recent years: 

Faulty data analysis 

Exaggerated clinical claims 

Fraudulent data 

Lack oftraceability/change control 

Poor clinical study design 

Unacceptable clinical performance 

FDA believes that a test used for patient care should have the same assurances of safety and 

effectiveness whether it is manufactured for distribution to multiple laboratories or created for 

use in only one laboratory. Premarket review of moderate and high risk LDTs would ensure that 

the tests are evaluated for analytical validity and clinical validity, based on their claimed 

intended use, and would provide an independent and unbiased assessment of the data used to 

support analytical and clinical claims for those LDTs. This is important because when tests are 

not well validated, the possibility of incorrect results, which can lead to misdiagnosis or 
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inappropriate treatment decisions, increases. Premarket review would also ensure that labeling 

includes the test claims, the data that support those claims, how the test may be interpreted. and 

the limitations of the test. FDA's post-market surveillance and enforcement tools ensure that 

tests remain safe and effective once on the market. 

In 2001, the Secretary's Advisory Committee on Genctic Testing recommended that "the Food 

and Drug Administration should be involved in the review of all nc\\ genetic tests regardless of 

how they are fonnulated and provided." In 2008, the Secretary's Advisory Committee on 

Genetics, Health. and Society recOlmnended that FDA address all genetic testing llsing a riskbased approach. 

Historically. FDA's oversight of genetic testing has been focused intensiV'cly on commercial test 

kits. The Agency is now engaging in a public dialogue on how it should develop a consistent. 

reasonable. and fair approach to all genetic tests. whether packaged as kits or provided as LDTs. 

to ensure safety and promote innovation. 

GENETIC TESTS BEING SOLD DIRECTLY TO CONSUMERS 

An emerging market segment for the laboratory testing industry is direct-to-consumer testing. A 

few companies have sought to popularize genetic testing through advertisements and social 

media. FDA has been aware of these companies marketing 10 consumers for several years. At 

the time of the 2006 Government Accountability Office (GAO) investigation of DTC testing. 

most of these diagnostics were '"nutritional genetic" tests-~tests to assess what kinds of foods 

individual consumers should cat and dictary supplements they should take. FDA followed up 

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with the companies and FDA. CDC. and FTC published a cautionary statement on DTC genetic 

tests. 

New DTC genetic tests subsequently came on the market FDA met with some of these 

companies starting in 2007. FDA's Center for Devices and Radiological Health. which is 

responsible for the oversight of these tests. never informed these companies that they could 

lawfully market their tests without FDA oversight Instead, the Center met with these companies 

to have a better understanding of what the companies were in fact doing or planning to do. 

Initially their business models were not clear and the tests were being marketed for such 

purposes as "antiquity determinations." However, since then we have seen changes in the 

number and types of claims being made. For example, one company provided test reports for 17 

discases. conditions, or traits in 2008 but provided over 100 types of results by 2010. In 

particular, some companies are making claims about high-risk medical indications, such as 

determining the risk for cancer or the likelihood of responding to a specific drng. Morcover, in 

many cases the link between the genetic results and the risk of developing a disease or 

responding/not responding to a drug has not been well-established. 

Marketing genetic tests directly to consumers can increase the risk of a test because a patient 

may make a decision that adversely affects their health, such as stopping or changing the dose of 

a medication or continuing an unhealthy lifestyle. without the intervention of a learned 

intermediary. The risk points up the importance of ensuring that consumers are also provided 

accurate. complete. and understandable information about the limitations of test results they are 

obtaining. 

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Physical and near-real-time analysis of the member's identity through private, public and 

government data sources, in concert with the eligibility card. Similar process to current 

credit/debit card authentication and verification. 

• Requiring eligibility transactions to be performed for each member visit in combination with the 

member identification verification. (H.R. 3S90 will cover the electronic eligibility transaction and 

receipt requirements.) Validation of these steps could be required as part of the claim 

submission process. 

Complexity in the United States healthcare system fosters a breeding ground for criminal activity and an 

environment where the member is neither well informed, nor engaged in verification and validation of 

services rendered. The following enhancements would aid in the members transformation into a true 

healthcare consumer, empowering them to take control and responsibility of their healthcare: 

• Post visit, provide the patient/member with a "bill of services". This 'receipt' would detail in 

easily understandable terms the services rendered, the estimated provider billed charges, likely 

Medicare reimbursement and potential member liability. 

• Post visit, but before claim adjudication, require the member to authorize and approve that the 

claim submission is factually consistent with the services rendered and the billed amount{s) are 

directionally equivalent to the "bill of services". 

• Offer online data to the member in the form of a Personal Health Record that reflects services 

rendered, aSSOCiated charges and discounts, and organized in a meaningful way that enables 

better understanding of the purpose and results from healthcare services. 

• Provide for the creation of a Medicare call center, staffed with nurse and billing advocates, to 

assist members with any questions regarding the claim authorization and approval 

requirements. Enact a penalty and loss of benefits for members knowingly authorizing and 

approving invalid claims. 

The two main areas of detection described above, in addition to the measures described within H.R. 

5546, need to be interconnected and provide for regular feedback loops to create an optimal Prevention 

System solution whereby the member/patient/consumer is actively engaged. A combination of 

initiatives is the best way to provide complete detection assurance or reduce the approximately $60Bn 

of Medicare fraud, waste and abuse. Engaging the consumer in the process has the added value of 

eventually bending the cost curve as well. 

Sincerely, 

John Reynolds 

President, FIS Government, Education & Healthcare 

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claimed to describe the genetic basis of specific disease traits or conditions on which consumers 

may base medical decisions: provide personalized infonnation on which medications are more 

likely to work given a person's genetic makeup; and provide genetic predispositions for 

important health conditions and medication sensitivities. In addition, a letter was issued to 

lllumina. Inc. for supplying unapproved reagents and instrumentation (marked "for research use 

only" and thus not approved or cleared by FDA) to several DTe manufacturers who use the 

reagents as critical components in their products being offered directly to consumers for clinical, 

not research, use. These manufacturers generally havenot submitted information on the 

analytical or clinical validity of their tests to FDA for clearance or approval. All six companies 

have been invited to discuss the regulatory status of their products further with the Agency. 

Meetings with the companies are taking place now or have been or are being scheduled. FDA 

may take additional actions, depending on the outcome of those meetings. 

On July 19,2010, FDA sent similar letters to 15 other finns marketing DTC genetic tests. 

PUBLIC MEETING ON LABORATORY-DEVELOPED TESTS 

On July 19 and 20, FDA held a public meeting for the purpose of obtaining input from 

stakeholders on how the Agency should apply its authority to implement a reasonable, riskbased, and effective regulatory framework for LOTs, including genetic tests, in particular, taking 

into account circumstances unique to LDTs and to avoid any duplication with eLlA. We 

provided an overview of the history and current regulatory status of LOTs. The meeting 

discussions focused on: 

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Statement ofDino Martis, President, On-e Healthcare 

Chairman Pallone and Ranking Member Shimkus, I am pleased to provide my thoughts 

on combating fraud, waste and abuse in the Medicare and Medicaid programs and throughout 

our health system. Too many resources are wasted to criminals who game our inadequate 

program integrity systems. Equally important, and a point that is missed too often in the fraud 

and abuse debate, is that we spend a great deal of resources on law enforcement and chasing 

crooks rather than leveraging technology to prevent fraud before it bears fruit. This point cannot 

be overstated: our fraud and abuse laws do not reflect the advances in technology that will 

protect taxpayer assets and consumer resources. 

Despite the recent, well intentioned and useful changes in Federal laws to provide more 

tools and to create disincentives to defraud Federal health programs, including modernizations 

included in the Patient Protection and Affordable Care Act, Congress needs to deploy all tools at 

its disposal to protect program integrity. One step would be to prevent fraud through use of 

technologies that identifY patient and provider, label durable medical equipment for tracking 

purposes and make use of electronic health records to track services and claims by provider and 

patient. 

Fraud aud Abuse is Pervasive 

As a society, we are experts when it comes to keeping our possessions safe. We have 

home security systems, car alarms, surveillance cameras in our businesses, PIN numbers, 

passwords, and dozens of other methods. Why is it then that our large investment in healthcare 

does not receive the same level of security? 

The U.S. spends more than $2.5 trillion on healthcare annually. According to the 

National Health Care Anti-Fraud Association, at least 3 percent of that spending - or $68 

billion - is lost to fraud each year. The FBI estimates at least 10 percent - or $226 billion --- is 

annually lost to health care fraud. These numbers are staggering. Think of the benefit to people 

that might be provided if those dollars were captured. 

Medicare and Medicaid made an estimated $23.0 billion in provider overpayments in 

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Mr. STUPAK. Thank you, Doctor. 

We will start with questions. I will begin. 

Mr. Kutz, cotton swabs—so how do I go about—if I go online, 

what do I do? Do I have to get a kit? And what does that cost me? 

How do I go about doing it? 

Mr. KUTZ. Well, the first step is you need a credit card to pay 

for it. 

Mr. STUPAK. OK. Well, that is always number one. 

Mr. KUTZ. That is usually the first step. And then when you get 

the actual kit—— 

Mr. STUPAK. And what does that cost, that actual kit? 

Mr. KUTZ. The four we bought were anywhere from about $300 

to a $1,000 each. 

Mr. STUPAK. And that was for the kit. 

Mr. KUTZ. For the kit. And there were no other products. These 

four companies were not marketing supplements with theirs. So 

that was something very different than what we have seen before. 

Mr. STUPAK. OK. 

Mr. KUTZ. So once you get that, you fill out a certain profile information, mostly age and ethnicity. And three of the four actually 

had you spit saliva into a little container and then seal that container and put it in the mail. The other one used, like, what was 

a Q-tip to do cheek swabs to get the DNA samples, and then you 

put that into a plastic container and send that in. 

Mr. STUPAK. OK. And that is costing me anywhere between $300 

and $1,200 for this test. 

Mr. KUTZ. There is others that are more expensive and less expensive. There is a lot more on the market. But with these, it was 

$300 to a $1,000. 

Mr. STUPAK. OK. What do you estimate Americans spend each 

year on this genetic testing? How large is this industry, would you 

say? 

Mr. KUTZ. We don’t know. The only source we have seen, I think, 

is the National Academy of Sciences’ report. It was approaching a 

billion dollars and growing at 20 or 30 percent a year. But I don’t 

think anybody would ever know with the Internet being one of the 

primary ways that this is marketed. 

Mr. STUPAK. And so, if it is estimated at a billion dollars a year 

and it is growing at 20 to 30 percent per year—but yet, on your 

reports that you showed, one of the first charts you showed, 68 percent of these findings were wrong, correct? 

Mr. KUTZ. Well, they differed. For example, you know, when I 

mentioned in my opening statement, for prostate cancer, I had different companies tell me I was at below-average, average, and 

above-average risk. So, 68 percent of our 40 tests, we got different 

results for the same disease. 

Mr. STUPAK. OK. And how did you get the bag of supplements 

there, that black bag there? 

Mr. KUTZ. That was a fifth company we tested. And, actually, 

they were very, very different. They would be more of what we 

would describe as the bottom feeders in this industry, the ones who 

are really more of a consumer scam. They are telling you, based on 

your DNA, that they have customized these supplements to me. 


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And I’ve got my fake person’s name, and I am not going to tell 

you what it is because we will use it again someday probably. But, 

yes, they are saying if I take these supplements, that it is going 

to reduce the probability I am going to get these diseases they say 

my genetic tests show I’m predisposed to have. 

Mr. STUPAK. So if it says you are predisposed to high blood pressure, they would send you these supplements. And what do the 

supplements cost, that little black bag of supplements? 

Mr. KUTZ. $140 a month. 

Mr. STUPAK. All right. And how long are you supposed to take 

those supplements, then? 

Mr. KUTZ. Forever, I assume. I don’t think it said you stop at any 

point. So when you give them your credit card, it is $140 a month 

and they send you a new bag. I think you take 20 of these a day, 

is what we were told. 

Mr. STUPAK. Do you know what they are, what the pills in that 

bag—— 

Mr. KUTZ. There’s not ingredients. It says it’s got a number of 

different plant and herbal and a bunch of things in it. But I don’t 

know—I think we’ve got maybe the detailed components. We could 

provide them for the record, if you’re interested in that. 

Mr. STUPAK. OK. So you really don’t know what you are taking. 

Mr. KUTZ. No, we don’t really know what we are taking. 

Mr. STUPAK. And it is $140 a month. 

Mr. KUTZ. Correct. 

Mr. STUPAK. OK. 

Dr. Shuren, in 2009, you testified that the FDA sent letters to 

a variety of companies regarding the direct-to-consumer genetic 

testing and medical devices. And then again this year, you did the 

same thing, you sent additional letters to companies, informing 

them they had to go through the medical device premarket approval process. 

So the FDA regards these direct-to-consumer genetic tests, then, 

as medical devices? 

Dr. SHUREN. Yes, we view these tests by these companies as 

medical devices. 

Mr. STUPAK. Would the company then selling me back this black 

bag of supplements every month for $140, would they have to get 

FDA permission to do that? 

Dr. SHUREN. If they are making a claim that—— 

Mr. STUPAK. That it would lower my high blood pressure. 

Dr. SHUREN [continuing]. If it is going to lower cholesterol, then 

they are making a drug claim, and the answer is, yes, they are selling an unapproved drug. 

Mr. STUPAK. So if I do my genetic test and it shows that I’m predisposed to high blood pressure, let’s say, and I sign up for this 

supplement, bag of supplements, as Mr. Kutz has there, then they 

would have to be registered with the FDA to send me that, because 

they are sending me medication, if you will, to lower my blood pressure. Is that correct? 

Dr. SHUREN. If they are sending medication to treat high blood 

pressure, they’re going to need to get that product approved by the 

FDA. 


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Mr. STUPAK. OK. So the product has to be approved. They would 

have to have a license, would they not? Would the DEA, the Drug 

Enforcement Administration, yourself, be licensed to do this? 

Dr. SHUREN. They would have to—if they are now making a drug 

and selling it, then they are going to have to register with us. And 

there is a whole bunch of other requirements. They have to meet 

good manufacturing practices, reporting requirements. And it 

sounds like this company hasn’t done any of that. 

Mr. STUPAK. Mr. Kutz or Dr. Shuren, has any State certified 

these genetic testing kits to be sold in their States? Do you need 

a State certification to sell these? 

Mr. KUTZ. I think some States, as we understand it—I don’t have 

the details—but do regulate or limit the ability to sell these directly to consumers. I don’t know which ones, but we did see some 

of that in our research. 

Mr. STUPAK. But all you do is go on the Internet, right? 

Mr. KUTZ. Yes. And no one is going to know. 

Mr. STUPAK. OK. 

Dr. SHUREN. And the State of New York, for example, prohibits 

direct-to-consumer marketing. They also, in order to use a test on 

a sample from New York, they will have to approve that test before 

you can use it in that State. 

Mr. STUPAK. OK. 

My time has expired. Maybe we will go another round of questions. Very interesting. Thank you both. 

Mr. Burgess for questions? 

Mr. BURGESS. Thank you, Chairman. 

Dr. Shuren, FDA sent a letter to Pathway Genomics, June 11, 

2009, stating that its health kit, a home DNA test, was a device 

that did not have FDA approval or clearance. And it appears that 

FDA has been corresponding with them for over a year. But has 

any action occurred as a consequence of this? 

Dr. SHUREN. No action has occurred until recently, when we did 

send the other letter to say, ‘‘We think it is a device. Come in and 

talk. Otherwise, we are serious about taking action.’’ 

If there is any issue here with the FDA, quite frankly—and I will 

say this—it is, why didn’t we act sooner? 

Mr. BURGESS. That was going to be my next question. 

Dr. SHUREN. And we should have acted sooner. 

Mr. BURGESS. So do you have any idea how many of these tests 

have been sold in the year’s time, now 13 months’ time it has taken 

to get to this point? 

Dr. SHUREN. So we should have acted before this time, now. And 

I think the recent actions just, if you will, lit a stronger fire under 

the agency, when we saw Pathway Genomics now entering into an 

agreement with Walgreens to sell their collection kit through those 

pharmacy stores. 

Mr. BURGESS. So Walgreens was the catalyst? 

Dr. SHUREN. A combination of things. We started to see these 

companies market for higher-risk claims, marketing more claims. 

And we thought, at this point, it is time to take action. 

We also were trying to sift through if these companies were making tests that might fall under our enforcement discretion policy for 


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laboratory-developed tests. And we do not believe that these companies are making laboratory-developed tests. 

Mr. BURGESS. How many of these companies with whom have 

you been communicating? We have the letters from Pathway. Are 

all the ones on Mr. Kutz’s list ones with which you have communicated in the past year? 

Dr. SHUREN. No. Seven of the companies we have been communicating with either in the past year, or just recently we sent letters to. Three we have not. We will follow up on the information 

that was given us to GAO. We have also shared this information 

with the Federal Trade Commission as well. 

Mr. BURGESS. You know, look over the horizon for just a minute. 

What do you see as the next steps as far as the regulatory process? 

What is going to happen as a consequence of the chairman calling 

this hearing today? 

Dr. SHUREN. Sir, what we will be doing with these companies, we 

are giving them an opportunity to come in and tell us what is it 

you want to do? If these companies are going to go out and market 

tests that are not for device claims, they are not making medical 

claims, that is one thing. If they are going to go out and make medical claims, then we are going to talk about what you need to do 

in order to sell that test lawfully on the market. 

Mr. BURGESS. I would just ask the question again: Do you have 

any idea how many of these kits were sold in the year between the 

letter that was sent to Pathway in June of 2009 and the present 

time? 

Dr. SHUREN. No, we do not. 

Mr. BURGESS. And presumably it is not just Pathway, of course; 

it is the other companies as well. So whatever it is, probably you 

can conservatively multiply it by three or four to get to the total 

number. 

Dr. SHUREN. That is correct. I believe 23andMe, and they may 

able to answer this, put some information out they had about 

50,000 customers for their tests. I believe that is the number we 

heard. 

Mr. BURGESS. But that is total. That is not just in the last year. 

Dr. SHUREN. That is correct. 

Mr. BURGESS. Mr. Kutz, do you have any idea over the year that 

we have kind of been aware that there might of sort of be a problem here, and now getting really serious about it, do we have any 

idea of how many kits have been sold and how many dollars have 

been spent on this? 

Mr. KUTZ. No. This was primarily an undercover investigation, 

so we didn’t do a lot of market research, and I don’t know how anyone could tell for sure, but the companies can represent that hopefully in the next panel. 

Mr. BURGESS. Maybe we will go there with the next panel. 

Dr. Shuren, have any of the companies ever been denied marketing devices requiring approval? 

Dr. SHUREN. They haven’t come to us to have their devices approved. 

Mr. BURGESS. So it has not even been on the radar screen? 

Dr. SHUREN. They haven’t. In years past when the tests were 

first being developed, with some of the companies we actually sugVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00092 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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gested that they come to us if they want greater clarification. Back 

then they were making much simpler claims. They never came to 

us with any data or information. 

Mr. BURGESS. Now, Mr. Kutz, do you feel it would be important 

to associate—you have four companies that were blinded up on the 

slide. Do you think it would be important for this committee to 

know—to unblind those so we know which companies provided 

which results? 

Mr. KUTZ. Of the four? 

Mr. BURGESS. Yes. 

Mr. KUTZ. If you like, yes. 

Mr. BURGESS. Maybe that information could be made available to 

the committee. 

I am advised if you know, you may state it. 

Mr. KUTZ. All right, of the four companies described as Number 

one, two, three and four in our report, number one is 23andMe, two 

is Decode Genetics, three is Pathway Genomics, and four is 

Navigenics. 

Mr. BURGESS. And, again, you can look at the glass as half full. 

So I would definitely take the best results you got of the four. 

Mr. KUTZ. I slept better last night, thank you. 

Mr. BURGESS. I knew you would. I did that for your benefit. And 

your testimony notes that company two claimed that testing for 

more markers is probably more accurate. If the company tests for 

more markers, that increases their accuracy. Can you comment on 

that? 

Mr. KUTZ. Yes. Well, we did visit with the companies. They don’t 

know exactly what we did at this time, but they did each claim 

that they weren’t surprised that we got different results, and the 

differences were attributable to the number and type of markers 

that they looked at. So several of them claimed they were more reliable than the other ones. But they all were not surprised, from 

what I understand from the interviews. 

Mr. BURGESS. Are we are going to get to go a second round? I 

will yield back. 

Mr. STUPAK. Chairman Waxman, please. 

Mr. WAXMAN. Thank you, Mr. Chairman. 

Dr. Shuren, you believe that these are medical devises that 

should be regulated by the FDA. Is the basis of that the claims 

made by the Web sites and the producers of these tests? 

Dr. SHUREN. Yes, that is correct, so claims for risk of cancer or 

sensitivity to drugs. 

Mr. WAXMAN. OK. Now, what do they have to do to stay in business if they are considered medical devices? 

Dr. SHUREN. Well, we hear from them the particular claims they 

in fact they want to make, and for some of these they are going 

to have to come to us and submit pre-market data. 

What we have done with companies in the past who may be marketing a test already who need to get FDA clearance and approval, 

we may allow them, if they are ready to come in the door with a 

submission and they have got the data and there isn’t a risk to patient safety, we may allow them to continue to market for a short 

period of time to allow us to look at data and make a determination. But if they are not prepared to do that or there are concerns 


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about patient safety, then we would have them no longer market 

that test. 

Mr. WAXMAN. I assume that the science is not advanced to the 

point where they can say you are going to get this disease or you 

are not going to get this disease. They are looking at the trend, the 

likelihood. 

Now, if they have a scientific ability to say that it is more likely 

than not, isn’t that helpful to the consumer and how would they 

be able to get approval for that kind of a claim from the FDA when 

they can’t show the absolute scientific backing for a claim like 

that? 

Dr. SHUREN. Well, what is critical here is, first of all that information has to be accurate, and there is a lot of questions now 

about the accuracy of that information, as you saw from what GAO 

showed, and it has been in some published reports already that in 

fact the companies disagree. 

One of the companies even in letters to us admitted that different genetic testing companies can report inconsistent results 

even when based on tests with proven analytical validity, and they 

go through all the different reasons. Because they are looking at 

the data, they are making their own determinations on where to 

make cutoffs on the science. 

Another company on their Web site has said many of the genetic 

discoveries that we report have not been clinically validated and 

the technology we use, which is the same technology used by the 

research community, to date has not been widely used for clinical 

testing. 

So, in terms of what we are going to want to see, is not only is 

it accurate, but if we are going to give information to patients, is 

that information truthful, not misleading, are they going to understand it, what is going to be the emotional impact with that patient? Is it information they are going to be able to handle by themselves, or is it really information they need a physician or genetic 

counselor to provide back to them? We are going to look for data 

to answer those questions. 

Mr. WAXMAN. That is an interesting point, because you are saying not only does the information have to be accurate, but FDA is 

going to evaluate how the information is going to be received. 

Now, let’s say there is a maternity test, someone wants to markets a maternity test. I assume that requires FDA approval, premarketing approval. Did FDA in reviewing those tests look at how 

the information would be received? 

Dr. SHUREN. When we do look at tests that are over-the-counter, 

so here the test is simple enough that the patient can use it and 

test themselves and they can understand and use the results. So 

the answer is for these tests where there are concerns about how 

the patient will—— 

Mr. WAXMAN. But I asked you about a specific one. 

Dr. SHUREN. Well, for maternity, maternity may not be actually 

a device claim. 

Mr. WAXMAN. As I understand a paternity test, a paternity test 

is not something to that would be approved by the FDA. Why is 

that? 


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Dr. SHUREN. That is correct. Because if it is using, for example, 

as evidence in a court case for determining if you are the father 

of the child, that is not a medical claim. However, there may be 

things about paternity. If you are saying that, well, we are looking 

at paternity for making a decision of your risk for heart disease, 

then you are making a medical claim. 

Mr. WAXMAN. Now the consequence of some of these lines, for exactly where you draw it, for a company to get a medical device approval would mean what, they would have to do lots of tests, it will 

cost them lots of money, and I suppose that some of these companies won’t be able to stay in business. Is that a fair statement? 

Dr. SHUREN. Well, it depends upon what they are going to actually test for and to show that it is actually accurate, you are measuring what you are supposed to. For example, this is the genetic 

profile we are looking for. Much of that is bench testing. 

Mr. WAXMAN. Let me ask you this question, because I have just 

a few seconds left. If the requirement for the test, and this is yet 

to be determined by FDA in talking with these companies, if the 

cost of doing the test to get pre-market approval by the FDA would 

turn out to be so expensive that the companies could not stay in 

business and there were no companies in business, is that a good 

result? Does the FDA think is it is a good idea not to have any of 

these companies doing this kind of this work? 

Dr. SHUREN. We think that it is good to have companies doing 

the work if the tests are accurate, they are supported by sound 

science and they are understandable. We don’t think it is good to 

be giving misinformation to patients. 

Mr. WAXMAN. Thank you. Thank you, Mr. Chairman. 

Mr. STUPAK. Mr. Kutz, if I may, you identified the four companies that you dealt with in your investigation. The company you 

bought the supplements from? That was not one of the four? 

Mr. KUTZ. Right. That was, again was GeneWise Life Sciences. 

Mr. STUPAK. OK. Mr. Griffith for questions, please. 

Mr. GRIFFITH. Just a couple of comments. I think that Chairman 

Waxman is making a very good point. I don’t think that the companies that are in question here would, if they disappeared tomorrow, 

would impact the scientific community and our desire to do research into genetics. I don’t think that that is—I don’t think that 

is really a discussion here. I think the discussion is that whether 

you are a Ph.D. or a physicist or you are a farmer with a limited 

education, your medical IQ levels out when someone says ‘‘cancer’’ 

or ‘‘Alzheimer’s’’ in front of you, and you do not have the ability to 

interpret these results, much less have a follow-up as to what is 

necessary. As far as prostate cancer is concerned, we know that if 

a man lives long enough, he will develop prostate cancer. 

This is all bogus. This is nothing more than the snake oil salesman revisited again in a high-tech community and in a high-tech 

way. I think that the proof is in many of the discussions that you 

have had with these companies, and it is very difficult to protect 

the public from itself and its desire to be healthy. 

So I think this committee is doing something that I think is very, 

very important, that we do impose significant strenuous regulations on these laboratories and what they are doing and what they 

say they are doing. 


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It reminds me of a story that they used to tell about the snake 

oil salesman. He had two medicines, one was High Popalorum and 

one was Low Popahirum. High Popalorum was taken from the bark 

of the tree from the limb down, and Low Popahirum was taken 

from the bark of the tree from the root up. They were both good, 

but they were different. And I think what we are seeing here is the 

High Popalorum-Low Popahirum story with a large check attached 

to it on a credit card or what have you. 

The other thing is this is nothing more than a lead-in to a marketing effort. Anyone that takes the time to find out whether they 

have got Alzheimer’s is already concerned about it. They go on the 

marketing list for medications, vitamins, et cetera, and they begin 

to get bombarded with mail. They probably say, well, how did anyone know I was interested in Alzheimer’s? The lists are being sold. 

Breast cancer is the same way. Most malignancies are the same 

way. 

So I think we are on to something here as far as what we need 

to do for the public. I yield back the balance of my time. 

Mr. BURGESS. Would the gentleman yield? I thank the gentleman 

for yielding. 

I do just want to point out that this science has evolved so rapidly in just a few short years that I have been here on this committee, and I can remember Dr. Zerhouni talking to us sitting at 

this very witness table, his last public appearance in front of this 

committee, talking to us about the single nucleotide polymorphisms 

that are being used as these tags to ascertain the risk factors. 

He put a slide up on the board that showed the number that 

were available in 2003 and then went through the years. And by 

the time we got to 2008, which was the year then, the entire slide 

was filled up with these. So there has been a dramatic expansion 

of the information that is available. 

A field trip that I took to the National Institutes of Health in 

2003, I went to a room where they were doing the testing for the 

genetic tag for Type 1 or Type 2 diabetes, now I don’t remember 

which it was. It was an enormous room full of people at the bench 

testing. They were linked in on the Internet to at least two other 

labs located in other places in the world that I was told were equally as large where people were working away around the clock at 

doing this sequencing. 

Last spring, I went to the NIH and I saw a machine that was 

the size of two file cabinets and it was doing the same work of 

three large labs from just a few years ago and doing it much faster, 

and I suspect with at least as great or if not greater accuracy. 

So, Dr. Shuren, this knowledge is going to evolve at a very rapid 

pace. And I would just restate the question that I stated in my 

opening statement, are you ready, is the FDA ready for what is 

going to be delivered to it by the NIH and private companies and 

researchers across the country? 

Mr. WAXMAN. Would the gentleman yield to me in the few seconds he has remaining? 

Mr. BURGESS. I had asked a question to the witness and I was 

hoping to get a response. 

Mr. STUPAK. Let’s get a response, and then we will let the chairman follow up. 


tjames on DSK6SPTVN1PROD with HEARING
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Dr. SHUREN. It is a great question, and the answer. 

Mr. BURGESS. That is why I wanted a response. It was a great 

question. 

Mr. WAXMAN. He wanted a phrase. 

Dr. SHUREN. And I am sure your question will be just as great. 

So we held a public meeting on June 30th to get at this question. 

We are thinking, and I will tell you our initial thinking is really 

an out-of-the-box approach on genetic testing. 

We have two issues. Does the technology being used, is it accurate? And as you mentioned, you could be looking at hundreds of 

thousands of these single nucleotide SMPs, and you are not going 

to have a validation that looks at every single one of them. So we 

are looking at maybe there would be a subset. And if you could 

show, you could demonstrate you are accurate with that subset, 

that is good enough and we would trust you on all the rest of the 

things you are looking at. 

The second piece goes to then when I test for that profile, do I 

really know that it is detecting or predicting the disease it is supposed to detect and predict. And that is where the science really 

is evolving. 

What we are thinking about is FDA along with NIH pulling in 

from the health care community, pulling in from patient groups, actually sit there going through the science, and when we set the 

standards of what is good enough and when it is ready, allow those 

claims. The companies then would not have to come back in the 

door with a new application. We would say you are already a validated test. You can now make this claim. 

That would actually be a way to allow for a lot of tests to be out 

there, and we would be able to sort of go through that science with 

a lot of experts to then allow for those claims. And that would actually be a much less expensive way of doing it for these companies 

as well. 

Mr. BURGESS. And that could tie into the disease registries that 

we are building as a result of work in this committee. 

Thank you, Mr. Chairman. I yield back. 

Mr. STUPAK. The gentleman has a question? 

Mr. WAXMAN. The gentleman’s times has expired. Others are 

waiting to ask their questions. 

Mr. STUPAK. Mr. Griffith? 

Mr. GRIFFITH. One quick comment. In addition to the disease, 

one of the things that is going on is most of our good legitimate 

genetic labs are wide open information. They share it. It is a real 

scientific endeavor. We know that we can expose 100 of our troops 

to a traumatic event in Afghanistan and Iraq and only 10 percent 

will develop post-traumatic stress syndrome. We believe there is a 

genetic tendency for that. 

So a lot of the research that we are doing is unrelated to the 

snake oil concept, but it is ongoing and it is certainly not part of 

this discussion. 

So I yield back. 

Mr. STUPAK. Remember, in the last 48 hours this committee 

went from Gulf Oil to snake oil. So we are on top of our game. 

Ms. DeGette for questions, please. 


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Ms. DEGETTE. Thank you, Mr. Chairman. I would like to follow 

up on the points that Mr. Burgess was just making, because I am 

interested to know, Dr. Shuren, if in fact—in your written testimony you say the FDA has cleared a number of genetic tests since 

2003, and I am wondering if in your opinion we have the technology to be able to determine that these mail order type of tests 

can be accurate and can be approved? 

Dr. SHUREN. So there are two parts of accuracy. The technologies 

used today are getting better and better and some of them are pretty good. But in terms of what the results mean, for many of the 

claims being made by these companies, the science has not yet sufficiently evolved. 

Ms. DEGETTE. So you do the technology, you can do the tests, but 

it is the interpretation of the tests? 

Dr. SHUREN. That is right. The technology is moving faster than 

the science behind the interpretation of the tests. 

Ms. DEGETTE. So given that, do you think that it is likely under 

the process you have described the FDA will be able to approve 

some of these mail order testing? 

Dr. SHUREN. It is possible. We are going to have to wait and see 

what data they have, what claims they make. I think some of those 

claims they may not be able to make today. Some of them maybe 

they would be able to make. But it is going to be based on sound 

science. 

Ms. DEGETTE. And do you think that primary care physicians are 

adequately trained to interpret and assess and make recommendations based on these tests at this point? 

Dr. SHUREN. I am not an expert in that, but I will tell the Secretary’s Advisory Committee on Genetics, Health and Society concluded that physicians generally are not well prepared to provide 

that kind of counseling. 

Ms. DEGETTE. Is that going to be part of the FDA’s consideration 

as well? 

Dr. SHUREN. Yes. 

Ms. DEGETTE. I wanted to ask you, Mr. Kutz, because obviously 

your testimony was compelling, but the audio clips were even more 

compelling of what people were being told by these companies. One 

thing that struck me was how little regard was shown in that 

audio clip for patient privacy. The woman says I want to have, I 

guess as a wedding gift or something, I want to have my fiance 

tested, and the company said, well, that is a super good idea and 

we have done that with others. 

I know that both of the companies that did that have specific 

policies prohibiting the sharing of genetic information with a third 

party. Were you aware of that? 

Mr. KUTZ. Yes, we knew that they had policies contrary to that. 

That is why we were testing to see if they would actually say no, 

we don’t encourage that or we are not going to do that if we know 

about it. 

Ms. DEGETTE. And do you think it was a problem with the employee on the phone not knowing what the company policy was and 

that training within that company could have helped that? 


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Mr. KUTZ. We didn’t talk specifically to anyone about that, so I 

don’t know. But I believe the two companies will probably be on the 

next panel. 

Ms. DEGETTE. And what were those companies? 

Mr. KUTZ. Let me get it for you. I believe it is Pathway is one 

and Navigenics is the second. 

Ms. DEGETTE. Thank you. Here is my other question. I am wondering if you know if these companies went out of business or any 

of these companies went out of business that held this genetic data. 

Is there some kind of a system right now for what would happen 

to that data if the companies went out of business? 

Mr. KUTZ. I don’t know that. 

Ms. DEGETTE. Dr. Shuren, is that part of what the FDA is considering when it decides whether to approve these tests? 

Dr. SHUREN. It is not an area that we have jurisdiction over, for 

the most part. If we are dealing with labs, then CLIA does have 

certain protections in place. Covered entities under HIPAA. But 

you may be dealing with companies that fall outside of that scope, 

and that could be a problem. 

Ms. DEGETTE. I am going to yield my remaining minute to the 

Chairman, who has another question. 

Mr. WAXMAN. You are very kind. Thank you. 

I guess the question that I just want to raise, and we will have 

the witnesses on the second panel that can be helpful in answering 

this question, but do these companies have researchers that are 

adding to the information that will help us have these breakthroughs for learning more about propensity to disease and how to 

make medicine more personal? Do they have researchers? Are they 

adding to the scientific knowledge? Or are they, as the gentleman 

from Alabama seems to suggest, charlatans, and if they are all 

closed down, then so be it, they don’t really serve a useful purpose. 

I don’t think the public ought to be misled. I don’t want people 

to be abused. So I think there ought to be some scientific standards. But I think we have to look at what the consequences will 

be if they have to go through a process at FDA that may be so expensive that they can’t survive it and what the loss will be. 

I just want to raise that question, more for the second panel, unless either of you have an idea, an answer to it. But otherwise it 

would go to the second panel. 

Mr. KUTZ. I can answer it a certain way. I don’t believe these 

four companies are involved with fraud. I don’t believe this is fraud 

necessarily, because I think they believe what they are doing. I 

don’t think they believe they are intentionally deceiving anybody. 

Whereas I believe this is fraud (indicating). So I just want to 

make that distinction. I didn’t necessarily answer your question directly, but there is a difference between companies that believe 

they are doing something good and right versus ones that know 

they are deceiving consumers. 

Mr. WAXMAN. That product if sold without a claim can be sold 

without any FDA review. 

Mr. KUTZ. Yes, and it is being. There are lots of companies. 

Mr. WAXMAN. The question is, there is a claim by one of these 

direct-to-consumer advisories make that something for which FDA 

would review, be required to review it. And I have a serious quesVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00099 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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tion about that, again, these lines that we are drawing. So the 

product that you are worried about that could be fraudulent could 

be sold freely, but the people that make the claim, if they just 

couched it another way, may avoid any regulation. 

Mr. KUTZ. Right. 

Mr. WAXMAN. Thank you. 

Dr. SHUREN. I would add in terms of—from the information we 

know they are not doing their own research on the genetic profiles 

but they are interpreting the studies that have been performed by 

others. 

I would raise, regarding companies going out of business, there 

is another side to this. The failure of FDA to regulate for many of 

these tests has created a disincentive for traditional manufacturers 

to get more involved in this area, and I think that stifles innovation as well. We need to consider it. Smart regulation can enable 

innovation. 

Mr. WAXMAN. Thank you. 

Mr. STUPAK. Ms. Christensen, any questions, please? 

Mrs. CHRISTENSEN. Thank you, Mr. Chairman. 

Mr. Kutz, you said in your testimony that many of the studies 

on which the genetic testing companies based their risk predictions 

include only data for people of European ancestry. I understand 

that GAO sent DNA samples with altered ethnicity information to 

four genetic testing companies. 

Can you explain how exactly that worked, what altered 

ethnicities were submitted in your investigation, and did the genetic analyses you received differ based on what you told the companies about ethnicity? 

Mr. KUTZ. Yes. That is another interesting angle to this, and I 

will just use myself since I was one of the donors. In one of my 

cases, case number one for me, I was a 48-year-old Caucasian, et 

cetera. In the other case, I was a 69-year-old African American 

man. So with respect to that, the results I got back in two of the 

cases were identical, but there was like a footnote saying but these 

results really don’t mean anything because you are comparing your 

African American to people of Eastern European descent, et cetera. 

The other two, the results were different. 

So they were apparently comparing me as an African American 

against other African American men, or perhaps just African Americans, I am not sure. And those were different, and there were a 

lot less of them. In other words, certain diseases they weren’t able 

to compare. 

So it was a combination of I think misleading—they all disclosed 

something about it, but at the end of the day we got different results for two and the same results for two. 

We asked for refunds, and two of the four gave us refunds because we felt we had been ripped off on that as a minority. 

Mrs. CHRISTENSEN. OK. That kind of responded to my other 

question. Which companies gave the refund and which ones didn’t? 

Mr. KUTZ. The refunds were Decode and 23andMe. And Pathway 

and Navigenics did not give us refunds. 

Mrs. CHRISTENSEN. Do you feel that—did the companies say up 

front, do they let the customer know up front—you do have to put 

your ethnicity on it. 


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Mr. KUTZ. All of them I believe ask for age and ethnicities. Some 

asked for additional medical information on your history. 

Mrs. CHRISTENSEN. And do the companies say up front, well, we 

don’t have a lot of data for minorities because our data pool really 

comes from people of European ancestry? Is that information provided up front? 

Mr. KUTZ. It is disclosed, I believe, but not necessarily in a 

prominent way. 

Mrs. CHRISTENSEN. And in the case of minority customers, do 

you feel that the marketing is misleading and deceptive? 

Mr. KUTZ. Yes. I believe that there should be much more prominent disclosure. If someone says they are African American or 

Asian, which were our two scenarios, they should be told very 

clearly before they take their credit card information that you are 

not going to get the same results as if you are Caucasian. 

Mrs. CHRISTENSEN. I think it is appalling that the companies 

would ask about their customer’s ethnicity at the outset, and despite knowing immediately they can’t provide the customer with 

the full results, still run the tests and charge the same price. 

Let me ask Dr. Shuren a question, also. The reason that FDA 

can—and it sort of follows up on the chairman’s question. The reason that you have any jurisdiction over these tests is because they 

qualify as a medical device because of some of the claims that they 

make, is that right? 

Dr. SHUREN. That is correct. 

Mrs. CHRISTENSEN. So the company can just change their claim 

and fall below the threshold, can’t they not, and then what recourse do we have to have any oversight whatsoever? 

Dr. SHUREN. So if they make claims, they are not making medical claims at all, but they are engaging in fraudulent practices, 

then we would be engaging with FTC. And that is one of the reasons too, the information that GAO provided, we have shared that 

with them at all. While we may not have authority over everything, 

our other sister agencies have additional authorities and we work 

with them in such situations. 

Mrs. CHRISTENSEN. And I know that in answer I think it was to 

Ms. DeGette’s question, I don’t remember who asked it, but do primary care physicians, of which I am one, have enough expertise to 

be able to interpret the results? Despite your answer, we are talking about direct-to-consumer sales of these tests. Would the FDA 

or GAO’s position based on your investigation be that these tests 

should be only done if ordered by a health care professional? 

Mr. KUTZ. Well, the genetic experts we spoke to said that most 

doctors would not be able to interpret—I think it is consistent what 

Dr. Shuren said, that the HHS studies showed. Our experts in genetics told us the same thing. 

Mrs. CHRISTENSEN. So who would interpret it? I mean, what is 

the use of the test? 

Mr. KUTZ. I mean, I can speak for myself, because I am one of 

the donors actually, and I showed you only the chart for three very 

serious conditions or diseases, I got three different answers. So I 

am still confused about that. 

Dr. SHUREN. And for some of the tests you will get a result and 

who knows what to actually do with it. In other cases, people may 


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be making a decision even it is on lifestyle. If you tell them they 

have low risk for diabetes, they may not have low risk and that 

person may be obese. A physician would say, you are obese. You 

have unhealthy habits. You are actually at high risk for diabetes, 

regardless of what your genetic test says. Yet that person may decide I can have my cake and eat it, too. 

Mrs. CHRISTENSEN. So if they had a provider, a health professional, nurse, nurse-practitioner, physician assistant or physician 

involved in the process, they would be better off? 

Dr. SHUREN. Yes. 

Mrs. CHRISTENSEN. Thank you. 

Thank you, Mr. Chairman. 

Mr. STUPAK. Thank you. 

Let me just follow up a little bit, if I may. These companies, Dr. 

Shuren, the FDA contacted them with letters, some in 2009, some 

in 2010. The FDA invited them to come in to say if you are going 

to do this type of testing, come on in, lets’s talk about it, is that 

correct? 

Dr. SHUREN. That is correct. 

Mr. STUPAK. And no one took you up on that offer? 

Dr. SHUREN. The offer we made now, the companies are now 

scheduling to come in. We have met with one company once and 

they are coming in again. We have met with a second company and 

they are going to come back and talk to us. 

Mr. STUPAK. But these companies, they know darn well that 

FDA has oversight of what they are doing and they are trying to 

avoid FDA regulation, are they not? 

Dr. SHUREN. Well, they should know that we have oversight over 

them. It would be a good question for the next panel. 

Mr. STUPAK. Well, there is a binder right there in front of you, 

that binder. Go to Exhibit No. 8, if you would, in there. In there, 

in one of the letters, all these companies before us, 23andMe, 

Navigenics, Pathway Genomics Corporation, and Decode Genetics, 

they have all received letters from the FDA, have they not? 

Dr. SHUREN. Yes. 

Mr. STUPAK. OK. So if you go to Tab 8 there, this is a document 

dated—it is an e-mail actually—July 1, 2009, it is from a Pathway 

employee who is discussing the advantages and disadvantages of 

using a swab for DNA collection. You can see in there they have 

the pros and cons. One of them they list is under the pros, the employee says for using swabs is to ‘‘avoid issues of the FDA regs regarding device manufacture and licensure of collection container.’’ 

So they are trying to avoid FDA regulation. They think if they 

use a swab, they avoid the FDA. Do they avoid FDA regulation 

using a swab? 

Dr. SHUREN. No, not necessarily. And I think this was for Pathway Genomics, did you say? 

Mr. STUPAK. Correct. 

Dr. SHUREN. So Pathway Genomics isn’t even—if they are trying 

to argue on a laboratory developed test, and when I get a collection 

sample I have to use something that is approved and cleared by the 

agency for that use, they are not a lab developed test. Their genetic 

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standing. If that is not the case, they can demonstrate to us otherwise. 

Mr. STUPAK. OK. So they have the lab. But also when they send 

the results, like to Mr. Kutz, they are making a medical decision 

or diagnosis, are they not? 

Dr. SHUREN. Yes. 

Mr. STUPAK. And you need a license for that, do you not? 

Dr. SHUREN. That is something that goes, I hate to do it this 

way, but for State law, it is sort of who can actually practice medicine. If they are engaging in the practice of medicine. But regardless, they are acting as a manufacturer under FDA law. 

Mr. STUPAK. Then if they send you a bag of supplements there 

for $140, now they are actually practicing medicine, because they 

say bag of supplements might lower my blood pressure, correct? 

Dr. SHUREN. They would certainly be acting as a drug manufacturer. 

Mr. STUPAK. OK. Go to document, Exhibit No. 2, and this is a 

document from 23andMe that outlines a conversation between two 

employees about CLIA. We have heard by CLIA, which is the Clinical Laboratory Improvement Amendments, which is a law administered by the Centers for Medicare and Medicaid, that regulates 

diagnostic lab testing on humans in order to ensure reliability of 

the tests. 

If you look at Exhibit No. 2, it says in there, Alex says, ‘‘CLIA 

is so useless for a lot of things it sees. It ensures that all,’’ and they 

have some colorful language in there, ‘‘are well documented and 

validated, but doesn’t actually prevent them.’’ 

So, Dr. Shuren, I understand that the CLIA tests whether the 

lab test is reliable, but does the CLIA process have any role in protecting consumers from being confused or misled about diagnostic 

value in these genetic testings? 

Dr. SHUREN. No, CLIA does not address that. 

Mr. STUPAK. OK. Does the CLIA process make sure that the direct-to-consumer genetic test does what it purports to do? 

Dr. SHUREN. No, it doesn’t. 

Mr. STUPAK. What kind of regulatory scheme then would address 

both the reliability of the test and ensure the safety and the efficacy of these tests? 

Dr. SHUREN. What you need is both FDA oversight and CMS 

oversight under the Food and Drug Cosmetic Act and under CLIA. 

Mr. STUPAK. As the investigation has shown, there are some with 

the direct-to-consumer genetic testing market that will go to great 

lengths to avoid government regulation. So we really hope that this 

hearing provides more balance and demonstrates why stronger and 

more diligent regulation is necessary. 

You also mentioned CFTC, or I am sorry, FTC, the Trade Commission, would also have a role in this? 

Dr. SHUREN. They may. When we got the results the other day, 

we shared it with them. We are going to have follow-up dialogue. 

Mr. STUPAK. Mr. Kutz, you have something you wanted to add 

on this? 

Mr. KUTZ. Well, we referred these to FTC, too, for potentially deceptive marketing practices. 

Mr. STUPAK. OK. Mr. Burgess, questions? 


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Mr. BURGESS. Dr. Shuren, in a regulatory environment for these 

tests, would they be Class 1 or Class 2 devices? 

Dr. SHUREN. It depends on the claim. Many of these claims that 

are medical claims look to be more. Some of them look like Class 

3, some would be Class 2. We would need to get the specifics on 

them. 

Mr. BURGESS. So Class 3 or Class 2 would be eligible for the tax 

under the health care bill that we passed and signed into law a few 

months ago, correct? Have you relayed this information to the Congressional Budget Office, because they are always looking for 

scores and savings on that patient care bill that we passed. 

Let me just ask you a question, Dr. Shuren, regarding the regulatory pathways. Is the Food and Drug Administration at the 

present time looking at the development of new regulatory pathways for things that are just on the horizon and perhaps a few 

steps over the horizon? 

Dr. SHUREN. The answer is yes. I think the approach I laid out 

on genetic testing is an entirely different way of approaching technology. FDA has done this over the years. As we deal with new 

sciences, we have a lot of flexibility under our existing authority 

and we adapt it to new technologies. I think this is one area where 

you are going to see us do that. 

Mr. BURGESS. You know, one of the disappointing things about 

this here has been that we have done absolutely nothing on a Federal budget at the congressional level. We have had no hearings, 

we have not had the ability to have anyone in and talk to them 

about their views and estimates for their agencies for the fiscal 

year that is just around the corner now. 

What can you tell us about the budget that you have to provide 

this new regulatory environment that is clearly going to be required? We are dealing with one small aspect of it today, but there 

are a lot of things that are just over the horizon in regenerative 

medicine, in the types of cancer therapy that may be available, 

where again your target population is a single patient and it is 

tough to do a randomized clinical trial on that, a population of one. 

So what is the budgetary outlook for your department as far as 

this any regulatory environment? 

Dr. SHUREN. Well, that is one where we are working through the 

usual budgetary procession to handle. I will say as we gear up, as 

we see more diagnostics coming down the pike, we do a re-look at 

our existing list of diagnostics, and for some that are moderate risk 

we better understand, we sometimes move to down-classify them 

into Class 1, which means we don’t do a pre-market review. 

We are doing such a review right now, and when we do that and 

it is appropriate to down-classify, we free up resources that we can 

then apply to new technologies coming in the door. 

Mr. BURGESS. Now, bear in mind, when you down-classify, that 

is going to take something off the tax rolls for the PPCRA, or whatever the dang thing is. So there will be a Congressional Budget Office score to that. And I am being a little bit lighthearted, but obviously we have an obligation, we will be looking at reauthorization 

of the Food and Drug Administration in just really a very short period of time. I can’t believe it has already come back around again 

so quickly. 


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But I think it is an important time for us to look at how you all 

are doing with establishing the FDA, that will be required to meet 

the challenges. Again, we are looking at one tiny little part of it 

this morning, and it is terribly interesting and terribly important, 

but there are a lot of things on the horizon out there that the 20th 

century FDA was ill-equipped to handle, and the FDA has to be 

able to handle the things that are going to occur in the 21st century with the speed of research and development. I have been concerned for some time that we put $10 billion into 

the NIH in the stimulus bill, but we didn’t do anything for the 

FDA. Now, assuming that those dollars we have invested in research at NIH are going to lead to deliverables and products, are 

you all able to keep up with getting those things out to the patient 

population that may need them, or was the money spent on research really never intended to get to a deliverable anyway, we 

were just spending money to spend money. 

Now I don’t know the answer to that question and I have never 

been able to get a satisfactory answer from anybody at the FDA. 

Again, we never had any budgetary hearings. 

So what is your sense on this? Do you have the tools that you 

need? Are you going to be able to talk to us at some point about 

what is over the horizon and what is required to have a good functioning 21st century FDA? 

Dr. SHUREN. I think it is a discussion we would be happy to 

have, to talk about our thoughts on what is coming down the horizon, our thinking about what it may take to be well prepared. 

Mr. BURGESS. I can only pray that our chairman will invite you 

in to discuss that some day, because it has been lacking this past 

year and it has been an omission that is significant, as we are seeing here this morning. 

Thank you. I yield back the balance of my time. 

Mr. WAXMAN [presiding]. The gentleman’s time has expired. 

Ms. DeGette. 

Ms. DEGETTE. I don’t have any further questions. 

Mr. BURGESS. Can I just ask one last question on the issue of genetic counseling? Under whose regime does that fall? Clearly the 

phone calls that Mr. Kutz was playing for us, these were telemarketers giving genetic counseling. That is so inherently dangerous that regardless of anything else we decide this morning, 

that has got to stop. So who is the cop on the beat for that? Who 

pulls the plug on that activity or makes these companies understand that this has to cease and desist and you need to hire genetic 

counselors to give genetic information? 

Dr. SHUREN. Well, in some respects we have a certain responsibility, so we may decide these are tests that actually can’t be provided directly to consumers, it is actually test results that have to 

go through a health care professional. If it is something where we 

decide that it could be provided through a genetic counselor, and 

we have done that in the past, then the appropriateness of those 

counselors and their credentialing I believe is handled at the State 

level. 

Mr. BURGESS. Thank you. 

Mr. WAXMAN. Thank you very much. We appreciate your testimony. We look forward to talking to you further about this issue. 


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Mr. KUTZ. Chairman Waxman, can I correct something real briefly before the second panel? 

Mr. WAXMAN. Yes. 

Mr. KUTZ. I had said before I think that I think the refunds for 

our minorities were Decode and 23andMe. They were really Decode 

and Pathway gave us the refunds. Just so if you are asking questions of the second panel, that that is the correct answer. I apologize for that. 

Mr. WAXMAN. Thank you. 

I would like to now call forward our second panel of witnesses. 

We have Dr. James Evans, Editor-in-Chief, Genetics in Medicine 

and Bryson Professor of Genetics and Medicine at the University 

of North Carolina at Chapel Hill; Ms. Ashley Gould, General Counsel, 23andMe; Dr. Vance Vanier, President and CEO of Navigenics; 

and Dr. David Becker, Chief Scientific Officer with Pathway 

Genomics Corporation. 

I want to welcome you to our hearing today. We appreciate your 

being here. It is the practice of the Oversight Subcommittee to 

have all testimony given to us done under oath, and so, if you 

would, now that you have sat down, please rise. 

You are advised that you are entitled to be represented by counsel during your testimony. Do any of you wish to have counsel assist you during your testimony? 

Ms. GOULD. Yes. 

Mr. MADIGAN. Michael Madigan of the Orrick law firm, Your 

Honor. Pleased to be here. 

Mr. WAXMAN. I haven’t been addressed as ‘‘your honor’’ in quite 

a while. Thank you. 

[Witnesses sworn.] 

Mr. WAXMAN. Let the record indicate that each of the witnesses 

answered in the affirmative. 

Dr. Evans, why don’t we start with you. There is a button on the 

bottom of the mike. We will have a clock running for 5 minutes. 

We would like to ask you to keep to that time. 

TESTIMONY OF DR. JAMES EVANS, EDITOR-IN-CHIEF, GENETICS IN MEDICINE, BRYSON PROFESSOR OF GENETICS AND 

MEDICINE, UNIVERSITY OF NORTH CAROLINA AT CHAPEL 

HILL; ASHLEY GOULD, GENERAL COUNSEL, 23ANDME; DR. 

VANCE VANIER, PRESIDENT AND CEO, NAVIGENICS, INC.; 

AND DR. DAVID BECKER, CHIEF SCIENTIFIC OFFICER, PATHWAY GENOMICS CORPORATION 

TESTIMONY OF DR. JAMES EVANS 

Dr. EVANS. Mr. Chairman and members of the committee, thank 

you for inviting me to testify. 

Mr. Chairman, I ask that my prepared remarks be submitted for 

the record. 

I am a physician and scientist who specializes in genetics. I conduct research on the genetics of cancer, and I am Editor-in-Chief 

of Genetics in Medicine, the journal of the American College of Genetics. But first and foremost, I am a physician. I am a board certified internist with a general medical practice and a board cerVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00106 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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tified general geneticist who sees patients with genetic disorders. 

I regularly utilize genetic testing in my practice. 

Advances in technology hold great promise for a future of personalized medicine. We should encourage individuals to be the primary 

directors of their own health care. Truly participatory medicine is 

a worthy goal and people should have access to the information 

contained in their own genome. 

But it is critical that such information be of high quality, that 

individuals receive accurate advice about the meaning of that information, that their privacy be protected, and that claims concerning 

those tests comport with reality. 

Unfortunately, this is not always the case at present. One egregious problem is the gap between claims by the providers of such 

services and the value of the information actually imparted. 

Most purveyors of DTC genetic testing appeal explicitly to its alleged medical value. We hear that genomic analysis allows one to 

‘‘take control of your health future.’’ Yet on each page of every report is some variant of the following disclaimer. ‘‘Information provided is not intended as nor does it provide medical advice, treatment, diagnosis, or treatment guidelines.’’ 

The explicit health claims and the small print disclaimers cannot 

both be true. Indeed, they are not. The disclaimer is correct. Such 

information by and large lacks medical significance. This would be 

true even if we understood how to interpret such results which, as 

clearly demonstrated by the literature and by the recent GAO investigation, we do not. The gap between claims and reality should 

be closed, and this could be accomplished in part by simply enforcing existing standards promulgated by the FTC. 

But while the vast majority of DTC tests are of merely entertainment value, some have serious, indeed potentially life changing, 

medical consequences. Thus, having signed up for innocuous information about her ear wax consistency or possible food preferences, 

a woman may also discover via a company Web site that she 

should consider bilateral mastectomy and removal of her ovaries. 

Startlingly, the recipient of such information from at least one 

major purveyor has no recourse to even talk with a qualified professional about her result. It is dangerous to allow the conflation 

of entertainment with medicine. 

With regard to quality, if genomic information has true medical 

value, then it is only logical that its quality be insured like that 

of any other medical test. I applaud the recent move of the FDA 

to take a risk calibrated approach to regulation, a timely endeavor 

in light of the recent mix-up of 87 samples by one major DTC company. 

Protecting privacy is also critical. A minute sample of your DNA 

can differentiate you from every human who has ever lived. What 

do we do when a company goes bankrupt and ownership of your 

uniquely identifying genomic information might suddenly become 

the property of a venture capital firm? We need clear and enforceable guidelines for how such information is handled by its inevitably unpredictable owner. 

Regulation does not mean proscription. We can embrace an exciting future in which the public has access to its genome in a way 

that includes reasonable risk calibrated regulation. Indeed, the inVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00107 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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terests of companies and public health are fully aligned, since both 

long-term business interests and the public’s health will thrive only 

when tests and the claims about those tests can be trusted. 

No one is more excited about the future of genomics than me. 

You can probably tell that by my questionable choice of tie for this 

hearing. I welcome the entry of responsible entrepreneurs into this 

field. Medicine has plenty to learn from innovative companies. 

I agree that people deserve access to the information contained 

in their genomes. But as a physician who deals with these issues 

daily, I do not feel it is paternalistic to simply maintain that they 

also deserve an honest accounting of what such information means 

and the assurance that it is derived in a manner that ensures quality, reliability and privacy. 

Thank you. 

[The prepared statement of Dr. Evans follows:] 


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Testimony of James P. Evans MD, Ph.D 

Hearing of the House Energy and Commerce Committee's Subcommittee on Oversight and 

Investigations, July 20, 2010 

Thank you very much for inviting me to testify. I am a physician and scientist who 

specializes in medical genetics. My research involves thc use of emerging technologies to 

analyze the human genome for genes involved in cancer predisposition and the ways in 

which people use genetic information. I am the Editor-in-Chief of Genetics in Medicine, 

the official journal of the American College of Medical Genetics. But first and foremost I 

am a physician. I am a board certified internist who has a general medical practice. I am 

also board certified in Clinical Medical Genetics and in Molecular Genetic Diagnostics in 

which capacity I see and test patients who have, or are at risk of having, genetic disorders 

such as predisposition to cancer. 

The breathtaking pace of discovery in the field of genetics is providing new opportunities 

for rapidly and inexpensively analyzing the human genome. We are now able to routinely 

query an individual's genome at over 1 million sites and the "$1,000 genome", in which 

access to one's entire genetic code will be feasible for many individuals, will soon be a 

reality. 

Such advances in technology have great promise to revolutionize medicine and usher in a 

new era of genomic medicine. These advances will lead to great progress in our basic 

understanding of disease, improved diagnostic abilities, new therapies and personalized 

prescription of drugs. 

But the rapid pace of technological progress has left us understandably impatient for 

immediate application to patient care. Like scientists and doctors, the public is curious 

and hopeful about genetics and has demonstrated an interest in analyzing and 

understanding their own genome. Indeed, we may be approaching an era in which much, 

ifnot most, genetic testing could be done outside the confines of the traditional doctor's 

office or medical setting. 

In part to meet this burgeoning interest, a wide range of direct to consumer (DTC) genetic 

testing entities has arisen, a potentially positive development for both patients and the 

public. We should encourage individuals to be involved in, and be the primary directors 

of, their own healthcare. Truly participatory, individualized medicine is a worthy goal 

and one we should strive for. People should have access to the information contained in 

thcir own genome. 

But it is also critical that they be assured that the information they receive is of high 

quality, that they have recourse to disinterested advice about the meaning of that 

information, that their privacy be protected and that claims made by the purveyors of 

such testing comport with reality. 

Unfortunately this is not always the case at prcsent. The most egregious problem - and 

the most remediable - is the distinct gap between claims made by the providers of such 

services and the value of the information actually imparted. Most of the purveyors of 
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DTC genetic testing appeal both implicitly and explicitly to the purported medical value 

of the genetic tests in question. We hear claims that scanning your genome for genetic 

variants provides a "road map to better health", allows one to "take control of your health 

future" or that "knowledge is power" with regard to disease. Indeed, these are the central 

advertising logos of the three most prominent players in the genomic DTC arena. Yet on 

each page of every report provided to patients by these companies, some variant of the 

following disclaimer is made: "Information provided is not intended as, nor does it 

provide, medical advice, treatment, diagnosis, or treatment guidelines." The explicit 

health claims and the accompanying disclaimer (in tiny font) cannot both be true. And 

indeed they are not. The disclaimer is correct. Such information, by and large, utterly 

lacks medical significance. This would be true even if we understood how to interpret 

such tests, which, as clearly demonstrated by scrutiny of the literature and the recent 

GAO investigation, we do not. 

It is often submitted by boosters of such technology that mere knowledge of one's risks 

will be of benefit to an individual. Yet, little evidence suggests that this is the case. 

Statistics about risk are tricky. I know, to a first approximation, what you, the reader of 

this document, will likely die of ... cardiovascular disease or cancer. These maladies are 

not caIled "common diseases" for nothing. They are exceedingly common and one is at 

considerable risk for them regardless of whether one happens to be at a relatively 

increased or decreased risk when compared with the average individual in the population. 

Thus, even for those at decreased relative risk, the chances are that they too will die of 

one of these common diseases. Thus, finding out that you're at double or half the 

"average" risk of a common disease is simply not medically meaningful. 

Likewise, for rare diseases, what does defining your risk really mean? The risk of a US 

citizen developing Crohns disease, a disease of the 01 tract, is about 111000. In what way 

is it useful to know that I'm instead at a 1/500 risk or a 1/2000 risk? 

It is instructive to examine how we use risk information in pursuit of better health. Your 

doctor doesn't measure your cholesterol and blood pressure because simple knowledge of 

that risk information is beneficial to your health. Rather, she measures it because we have 

ways of altering your blood pressure or cholesterol. As a physician, I simply don't know 

what to do with the knowledge that I or my patient is at, say, a 40% increased risk for 

prostate cancer. We have no interventions that make that information useful. 

Some claim that knowledge of an increased risk will motivate people to live more healthy 

life styles. Yet there is no good data thus far that genetic information has any special 

qualities that will motivate individuals any more effectively than do our current 

admonitions. 

But what ifI'm wrong? What if there really is something inherently special about genetic 

information that will induce behavioral change? I sincerely doubt that this will be the 

case but let's grant that dubious proposition for a minute. If so, we have an even bigger 

problem. Because for everyone I find to be at increased risk of, say, heart disease, I am 

mathematically guaranteed to find another at decreased risk. If genetic information has 
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magical abilities to affect behavior then we run the inevitable risk that such information 

will induce adverse behavior in the other half of the population, to their ultimate 

detriment. The bottom line is that whether you are at increased risk or decreased risk of 

disease, a healthy lifestyle will benefit you and there is little to be gained from finely 

parsing that risk. The gap between claims and reality should be closed. And it doesn't 

even require new regulations, just enforcement of existing standards that are, at least in 

part, promulgated and promoted by the FTC. 

Another important issue before us is what sources of information the public has about the 

meaning of their results. I would argue that the vast majority of test results provided by 

most DTC genetic companies are simply of entertainment, not medical value. As such I 

see little potential for harm and see no problem with the publie having full aecess to such 

information as long as it is not oversold in the way I've just been describing. 

But mixed in with trivial and fun tests (that, for example, assay your likelihood of having 

thick earwax or liking Brussels sprouts) are a few tests offered by such companies that 

have very serious medical consequences. For example, one major purveyor's panel of 

DTC tests include, along with trivial matters, a test for specific mutations which result in 

an exceedingly high risk of breast and ovarian cancer. Thus, having signed up for 

innocuous information about one's ancestry and possible food preferences, women may 

also find out via the company's website that they should perhaps consider bilateral 

mastectomies and removal of their ovaries. Startlingly, the recipients of such information 

have no recourse to even talk with a qualified professional about their result and its 

implications. I think that people should be free to get medical tests on their own terms. 

But if one takes on the responsibility of informing someone that they have tested positive 

for a mutation that could well lead to very serious - indeed life changing - consequences, 

then one should ensure that the individual ean at least pick up a phone and talk with 

someone knowledgeable about its implications for them and for their loved ones. I don't 

leave my patients in the lurch when I discover devastating information about their health 

and doing so should not beeome a new standard ofthe internet age. 

Ensuring quality testing is also of paramount importance as we try to realize the potential 

of genomic information. Simply put, if such information has true medical value, then its 

quality should be ensured like any other medical test. This is not too much to ask. I 

applaud the recent move of the FDA to take a risk-calibrated approach to the regulation 

of sueh testing. Their action is especially timely given the recent mix up of 87 samples 

which occurred from a major purveyor ofDTC genomics. In formulating appropriate 

regulations it is important to keep in mind that risk calibration is possible. There is no 

reason that each test must be regulated to the same degree. Rather, the seriousness of the 

implications of a given test can guide the degree to which it must be regulated. 

Protecting the public's privacy is critical. A tiny sample of your DNA can serve to 

differentiate you from every other human who has ever lived. Thus, it seems reasonable 

that the public should be assured that their samples and their genomic information are 

protected. What do we do when a company goes bankrupt and ownership of your 

uniquely identifying genetic information suddenly may become the property of a venture 
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capital firm? We need clear and enforceable guidelines for how such information is 

handled by its (likely numerous) owners. 

As we seek to employ genomic information in healthcare it's critical and sometimes 

difficult to remember that medicine and science are very different pursuits. Unfortunately 

good ideas are insufficient to guide the practice of medicine. We've learned that we must 

demand evidence of efficacy and safety before we translate what seem like good ideas 

into medical care. Ifwe do not it is our patients who will inevitably pay the price. 

No one is more excited about the future of genomics than I am, nor feels more strongly 

that it has the potential to usher in a new era of medicine that will benefit us all. I 

welcome the entry of quality-minded and responsible entrepreneurs into the field. 

Medicine is often validly criticized for being too slow to change and I think we have 

plenty to learn from innovative cutting edge companies, some of the representatives of 

which are also testifying today. 

But as a physician who deals these issues daily I do not feel that it is paternalistic to ask 

that the public not be deceived by exaggerated claims, that their privacy be protected, that 

tests be of high quality and that they have recourse to unbiased information about the 

meaning of their results. Regulation does not mean proscription. We can embrace an 

exciting future in which the public has access to its genomic information but we should 

do so in a responsible manner and risk-calibrated regulation is part of the answer. Indeed, 

it seems obvious to me that the interests of companies and the public are actually fully 

aligned since both their long-term business interests and public's health will thrive only 

when tests and the claims made for those tests are trusted. 

I believe that the public deserves access to the information contained in their own 

genomes. But they also deserve an honest accounting of what such information means 

and the assurance that it is derived in a manner that ensures quality, reliability and 

confidentiality. 

Contact Information: 

James P. Evans MD, Ph.D 

Bryson Distinguished Professor of Genetics and Medicine 

Editor-in-Chief of Genetics in Medicine 

University of North Carolina at Chapel Hill 

Campus Box 7264 

Chapel Hill, NC 27599-7264 

jpevans@med.unc.edu 

919966-2007 
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Mr. STUPAK. Thank you, Dr. Evans. 

Ms. Gould, your testimony, please. You are General Counsel for 

23andMe. 

Ms. GOULD. That is correct. Thank you. 

Mr. STUPAK. If you want to pull that mike forward, and the 

green light should go on when you press the button. 

TESTIMONY OF ASHLEY GOULD 

Ms. GOULD. Chairman Stupak, Ranking Member Burgess, and 

members of the subcommittee, good morning and thank you for inviting 23andMe to testify today. 

My name is Ashley Gould, and I am the General Counsel of 

23andMe, as you just heard. I ask that my full written testimony 

be submitted for the record. Thank you. 

It was really helpful to hear and we embrace the prior panel. We 

were disturbed by the percentage of discordants in these reports, 

and we have proposed standards to NIH and FDA. I will be talking 

more about that today. 

In the last 10 years, the Human Genome Project has revolutionized genetics. Direct-to-consumer genetics leverages these advances 

by allowing individuals to access their own genetic information. 

Consumers empowered with this information have made lifestyle 

changes aimed at reducing their risks of developing disease and 

have provided information to their physicians to aid in diagnosis 

and treatment. 

23andMe believes the subcommittee’s hearing today presents an 

opportunity for all of us to understand the state of the science, how 

best to protect consumers, and to design a sensible regulatory 

framework for the future. We look forward to working with Congress as well as the FDA and NIH on these issues. 

We strongly agree with the subcommittee that DTC genetic testing must be scientifically valid, accurate, and well-explained to consumers. We are entirely confident in our own reports, which we develop in conjunction with our physician and scientific advisers. 

We support the subcommittee and FDA in the effort to create an 

improved regulatory framework for genetic testing. We are already 

working with FDA, NIH and other organizations to strengthen regulations for all laboratory testing, including genetic testing. Indeed, 

we first met with FDA in 2007 before we ever offered our service 

to consumers. Thereafter, in 2008, we met with FDA Commissioner 

von Eschenbach and his staff and they encouraged us to proceed. 

We have had ongoing discussions with FDA since that time. 

Tomorrow, we will present our regulatory proposal to the FDA. 

Our plan takes into account rapid technological innovation and ensures the analytical and clinical validity of all laboratory tests. In 

addition, we think new regulations should provide transparency 

across the industry so consumers know what they are getting from 

the services they choose. 

At the heart of any new regulation should be the requirement 

that DTC genetic companies operate at the highest levels of science 

and ethics. 23andMe grounds its service in several core elements: 

Informed consent and strong privacy protection; educating customers about personal considerations they should take into account 

when using our service; educating customers in providing full 


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transparency about the science behind our service; and recommending that if customers have questions about their results, they 

should coordinate with their physicians or a genetic counselor. 

Indeed, we are proud that in 2008 our company’s DNA testing 

was selected by Time Magazine as the number one invention of the 

year. 

One of 23andMe’s core missions is the development of innovative 

solutions for accelerating genetic research. Our database is one of 

the largest collections of genetic and health information in existence and has already led to published discoveries. We are currently 

working with the Parkinson’s Institute on research aimed at discovering the genetic factors underlying Parkinson’s disease. We are 

proud to have with us today the head of the Parkinson’s Institute, 

Dr. William Langston, one of the leading Parkinson’s researchers 

in America. 

We appreciate the concern that people who receive DTC genetic 

information could make harmful decisions without consulting a 

physician or could be lulled into inaction based on their results. 

However, we have seen neither data nor scientific literature to support this view. Indeed, the current scientific literature, combined 

with our own experience, shows that people do not take rash or unconsidered actions. 

Moreover, 23andMe’s service is consistent with the FDA’s long 

history of approving at-home over-the-counter laboratory tests for 

HIV, hepatitis and other diseases, in addition to permitting consumers direct access to tests for other conditions, such as high cholesterol and pregnancy. 

We believe the current regulatory landscape is ready for improvements, and we welcome your interest and leadership in this area. 

Thank you, and I look forward to your questions. 

[The prepared statement of Ms. Gould follows:] 


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Testimony of Ashley C. Gould, General Counsel, 23andMe, Inc. 

"Direct-To-Consumer Genetic Testing and Consequences to the Public Health" 

Committee on Energy and Commerce 

Subcommittee on Oversight and Investigations, U.S. House of Representatives 

July 22, 2010 

Chairman Stupak, Ranking Member Burgess, and Members of the Subcommittee: 

Good morning, and thank you for inviting me to discuss this important issue. 

My name is Ashley Gould, and I am the General Counsel of 23andMe, Inc., a 

leading personal genetics company dedicated to research and helping individuals 

understand their own genetic information through DNA analysis technologies and webbased interactive tools. I ask that the full written testimony be submitted for the record. 

I. Overview 

Direct-to-consumer (DTC) genetic testing leverages the findings from the Human 

Genome Project. Genetic testing has the potential to allow individuals to access their 

genetic information - the building blocks of their genome. Customers empowered with 

this information have made lifestyle changes aimed at reducing their risks of developing 

disease and have provided information to their doctors to aid in diagnosis and treatment. 

These actions have improved and even saved lives. Consumers can only be helped if 

such services operate at the highest levels of both science and ethics. We thus greatly 

appreciate the Subcommittee's interest in this increasingly important area of personal 

health, and we support sensible U.S. Food and Drug Administration (FDA) regulation of 

genetic and other forms of direct-to-consumer testing. 

Before explaining our DTC genetic testing services more specifically, we would 

like to explain that 23andMe operates pursuant to the following core beliefs and facts: 

A. Consumers have a fundamental right to access their personal genetic 

information; 

B. 23andMe takes a holistic approach in providing genetic information to 

customers. Customers are provided with as much scientifically-sound 

information as is available so that they can learn as much as possible; 

C. 23andMe provides a platform for customers to participate in the research 

process, so that we can all learn more about genetics and diseases; 

D. Genomics has reached the stage where 23andMe can provide personal 

genetic information to consumers in a cost-effective manner. 23andMe 

relies on experts, both internally and on an outside board of prominent 

science advisors, to provide its services based firmly on peer-reviewed 

science; 
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E. 23andMe provides genetic testing results to consumers in a secure, 

confidential, and privacy-protected environment; 

F. 23andMe encourages our customers to consult with medical professionals 

before taking any medical action based on DTC results; and 

G. 23andMe supports federal standard-setting or other sensible regulatory 

activities to protect consumers and increase transparency. 

II. Background 

23andMe met with the FDA even before we launched our service, explained the 

full scope of our proposed services, and were encouraged to continue with our service by 

the then-FDA commissioner. Even while we have not been actively regulated by the 

FDA, we have embraced the scientific standards normally applied in a regulated 

environment. Based on FDA and Clinical Laboratory Improvement Amendments 

(CLlA) standards, we have created a sophisticated, high-quality testing process. 

To process and analyze our customers' saliva samples, 23andMe contracts with 

the National Genetics Institute (NGI) - a wholly owned subsidiary of the Laboratory 

Corporation of America. NGI is a CLlA Program-certified laboratory that provides 

advanced clinical genetics testing services for blood screening, medical testing, and 

clinical research. Licensed as a clinical laboratory provider by both state and federal 

agencies, NGI participates in a number of approved quality control programs, and holds 

active Biologics Licenses from the FDA for screening of plasma for blood-borne 

infectious agents. It also provides advanced genetic testing services to physicians, 

hospitals, and clinics, and has supported numerous pharmaceutical and biotechnology 

companies in the clinical development of new infectious disease and oncology therapies. 

(See Attachment A). We believe that NGI complies with the highest professional, 

regulatory, and corporate quality-assurance standards. 

NGI processes customer saliva samples using a chip that analyzes nearly 600,000 

data points - the building blocks of the genome that I referred to above. After NGI 

completes the analysis, the collected data for each sample is encrypted using leading 

technologies to protect privacy, and sent electronically to 23andMe, which then uploads 

the data to the customer's individual account. 23andMe then notifies its customers that 

their data are loaded and ready for viewing. 

Throughout this process, 23andMe provides strong safeguards for our customers' 

privacy and confidentiality. We have invested in a sophisticated technical environment 

for the storage and security of customer data and have had independent security audits to 

verify that security is state-of-the-art. As a part of our Terms of Service, we educate 

customers about our service and what will be provided - including how to use their 

information, how their information is protected, and the scientific limitations. During 

account registration, each customer is required to focus his or her attention on relevant 

highlighted sections of our Terms of Service and agree to them. In addition, we have 

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consulted on privacy issues with leading experts in the field, including the Electronic 

Frontier Foundation, to adopt the highest standards and best practices for storing and 

safeguarding our customer data. 

Equally important, 23andMe grounds its service in five core elements: (A) 

informed consent; (B) educating customers about personal considerations they should 

take into account when using our service; (C) educating customers about the science and 

methodologies behind our service; (D) updating customers with new information as the 

science advances; and (E) emphasizing that customers should consult with health care 

professionals before taking any medically-related actions based on our reports. 

A. Informed Consent and Privacy 

We require informed consent from customers before they use our services so that 

they understand our permitted uses of their data and what our reports indicate - both the 

information and its limitations. We take extra precautions with certain reports. For 

example, we ask customers to be certain they want to know potentially significant 

information, and insert interstitial pages that must be clicked through before viewing our 

Parkinson's and BRCA reports. This way, a customer has the chance to reflect before 

making an affirmative choice to view his or her data. 

No individual customer information is ever disclosed to third-parties without 

explicit consent (unless required by law). In addition, we recently introduced an 

institutional review board-approved consent document, which allows customers to decide 

if they would like to participate in research intended for peer-reviewed publication. In 

such instances, customer information will only ever be provided on an aggregate basis. 

As a constant reminder to our customers, our consent document, terms of service, and 

privacy statement are all available for review via links on every page of our website. 

B. Education About Customers' Personal Considerations 

Our customers come to our service because they are motivated to learn about their 

genes. Customers are not compelled to learn any information, and we designed the web 

site to allow customers to choose to learn the information that interests them. Our Terms 

of Service page clearly states that information customers learn could cause distress. 

Specifically, we disclose at length the following risks and considerations: 

"Once you obtain your Genetic Information, the knowledge is 

irrevocable;" 

"You may learn information about yourself that you do not 

anticipate;" 

"The laboratory may not be able to process your sample, and the 

laboratory process may result in errors;" 

"You should not change your health behaviors solely on the basis 

of information from 23andMe;" 

"Genetic research is not comprehensive;" 

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"Genetic Information you share with others could be used against 

your interests;" and 

"23andMe Services are for research, informational, and 

educational use only. We do not provide medical advice." 

For a complete and fully described list of disclosed risks and considerations, 

please see our Terms of Service. (See Attachment B). In addition, our public website 

contains a section addressing considerations before using our service or engaging in 

genetic testing. (See Attachment C). 

C. Education and Transparency About the Science and Our Methodologies 

We provide extensive information to our customers so they understand that the 

data we provide can change as new scientific studies are completed. We also explain the 

technology, algorithms, and methodology used to process and analyze their DNA. We 

have white papers readily accessible on our website that detail our inclusion criteria 

procedures and algorithms. In addition, for each trait, condition, or disease association 

we test, we explain whether the result is based on established research - meaning that the 

topic meets 23andMe's criteria for findings that are very likely to reflect real effects. The 

scientific community has largely reached consensus on these topics. We also explain 

whether the result is based on preliminary research - meaning that these studies still need 

to be confirmed by the scientific community. It also includes topics where there may be 

contradictory evidence. The results of these studies are not conclusive. We report 

associations based on preliminary research so that our customers know the most current 

information about what their genome says, but we provide the customers with contextual 

information so they know the research is preliminary. 

When a customer receives his or her results related to a disease association, the 

customer receives the risk prediction in context of the average person's risk versus the 

risk for a customer with his or her genetic variations. We also educate our customers 

about the importance of the environment and other factors that also may influence their 

risk of disease. Disease is not determined by the genome alone. We provide extensive 

information about the condition and next steps, including encouraging customers to 

discuss their results with their physicians and to consult genetic counselors. 

D. Updates on Changing Data 

We are committed to keeping our customers educated on new scientific advances. 

After customers receive their initial results, we update them on new scientific findings. 

As new scientific studies uncover new information that changes our understanding of the 

genome and its meaning, we tell our customers how this new information changes their 

results. We believe customers have a right to be updated when advances in science 

change our understanding of their genomes, so we do not cut off our customers after one 

look - or a year of looks - at their information. 

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E. Emphasis on Physician and Genetic Counseling Support If Customers 

Have Questions 

As stated, if customers have questions, we recommend that they should 

coordinate the receipt of their information with physicians or a genetic counselor. We do 

not offer genetic counseling services directly and in fact believe it is important for 

counselors to be independent of the company. We have provided links to such services 

previously and since early June 2010, we have offered our customers a referral to 

Informed Medical Decisions, Inc. (InformedDNA), an independent provider of genetic 

counseling services staffed by certified genetic counselors. These genetic counselors are 

trained professionals, who have additional training about the services and results that 

23andMe provides. 

To be clear, there is no financial relationship between 23andMe and 

InformedDNA However, we do provide InformedDNA with background information 

about 23andMe's test offerings so that InformedDNA's genetic counselors will be 

prepared to discuss the tests we offer our customers. This service is optional for 

23andMe customers, and customers who choose InformedDNA for genetic counseling 

services pay InformedDNA directly. 

23andMe partnered with InformedDNA because it is the largest independent 

network of genetic counselors and is the only national provider whose services are a 

covered benefit for most individuals with commercial health insurance. (See Attachment 

D). 

III. Concerns About DTC Genetic Testing 

We recognize that there are concerns about customers having direct access to 

genetic testing, including the risk that individuals might make poor choices based on their 

results, and consistency of results among the different companies in this sector. We take 

those concerns extremely seriously. 

A. Genetic Concerns 

The best way to avoid poor choices is to have educated customers. Here are some 

of the things we are doing to educate customers: We have created educational videos that 

are on our public website (these have over 140,000 views on Youtube and are used by 

schools for genetic education). Our health reports have extensive information including 

description of the underlying scientific literature upon which reports are based, citations 

to these studies, the interplay between genes and the environment, and technical 

information and additional resources for those who are interested. We also educate the 

broader community. We have offered free genotyping to hundreds of physicians so they 

can learn about their data and understand their patients' needs, we are involved in 

medical school programs to further genetics understanding, and we are involved in 

numerous third-party research studies - some of which are described below. 

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With respect to concerns about people making poor choices, there is excellent 

scientific research being conducted about the impact and utility of DTC genetic testing. 

For example, the National Human Genome Research Institute and the National Cancer 

Institute of NIH, along with the Group Health Cooperative in Seattle and the Henry Ford 

Health System in Detroit, launched the "Multiplex Initiative" in May 2007 to study 2,000 

people in Detroit who were offered a multiplex genetic test for eight cornrnon conditions. 

This study has shown that consumers understand that both genes and environment 

contribute to disease risk. As part of this research, researchers found that "[i]ndividuals 

who present to health care providers with online genetics information may be among the 

most motivated to take steps toward healthier lifestyles. These motives might be 

leveraged by health care providers to promote positive health outcomes." There is more 

to come, and it will educate all of us about what the actual issues might be and how to 

address them. 

We want to better understand these issues ourselves, and to that end, 23andMe 

has worked with the Genetics and Public Policy Center at Johns Hopkins University to 

conduct an independent study of how 23andMe customers understand and use their 

results. We expect these results to be released later this surnrner, and we will keep you 

informed about them. We are also working on a related study with Stanford University. 

23andMe has over 50,000 customers, and through monitoring community 

feedback, we are confident that DTC genetic testing has a positive impact on customers' 

lives. 

B. The June 2010 Sample Mix-Up 

Regarding concerns about accuracy and reliability, let me briefly address the 

reported June 2010 incident in which customers received results belonging to other 

people. A single human error by a certified technician at our contracted laboratory 

caused this incident. The technician accidentally and wrongly inverted a plate by 180 

degrees, causing valid results for plate samples to be matched with the wrong person's 

name. This mismatching error at the laboratory led to 23 andMe , s receipt of mismatched 

results that were then transmitted to customers, affecting eighty-seven customers in alL 

23andMe responded to the problem as soon as we learned of it from our 

cornrnunity by notifying customers and removing the mismatched results in less than 24 

hours. We were then able to give the customers their correct results within six days. 

While 23andMe regrets the error and takes the incident seriously, the company rapidly 

resolved it. Since the incident, both 23andMe and our laboratory have further 

strengthened our quality control systems to prevent such problems. The laboratory error 

that occurred here could have happened in any laboratory for any genetic tests coming 

from any hospital, doctor's office, or other laboratory client - it was not a problem 

uniquely related to 23andMe samples or DTC services to any extent. (See Attachment 

E). 

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C. Standards Setting 

We fully appreciate the concerns that different companies can return different risk 

predictions, which can happen even when the tests are accurate. There are several 

scientific reasons for differences: companies employ slightly different criteria for the 

inclusion of disease-associated markers in their reports; new associations between genetic 

markers and diseases are being discovered at a rate faster than companies' development 

cycles; and companies test for an imperfectly overlapping set of genetic variants for 

reasons including the ability of different genotyping technologies to assay certain 

variants. We have asked NIH and FDA to help on this point. In addition, the industry is 

already looking to other reputable, independent entities that could take up this challenge, 

such as NIST, an independent standard setting entity. 

IV. How DTC Genetic Testing and 23andMe Helps Consumers Improve Their 

Lives 

Over the past decade, scientists have discovered that an increasing number of 

diseases can be linked to variations in an individual's DNA. These discoveries have 

launched the revolution in personal health, empowering individuals as never before to 

manage their personal health before they get sick. Thanks to such advances, we now 

understand that each of us is born with genetic predispositions for developing diseases. 

In some cases, this information can truly save a life. A striking example is that of 

Kirk Citron. Kirk found out from 23andMe that he had about three times the normal risk 

for venous thromboembolism - something he never would have suspected. Knowing this 

information, Kirk did a little digging and found out his father's father had a blood clotting 

condition that had him on blood thinners for the last 20 years of his life. A few weeks 

later, Kirk tore his ACL and was told he needed to have knee surgery (which is one of the 

risk factors for blood clots). 

Kirk went to his primary doctor and his orthopedist and told them he was worried 

about the risk, given his family history and his DNA test. Both doctors were somewhat 

dismissive of Kirk's concerns, but Kirk was insistent enough that they agreed to change 

the post-surgery protocol to give Kirk five days of blood thinner. 

Kirk had the surgery and had the five days of blood thinner. Five days later, he 

suddenly felt short of breath. Kirk saw his doctor and was immediately admitted to the 

hospital - he had experienced a pulmonary embolism - a blood clot that traveled to his 

lung. 

In discussing it afterwards, Kirk's doctor said two things: first, the fact that Kirk 

had been on the blood thinner for five days almost certainly meant that the attack was 

much less severe than it might have been (it could have been fatal). Second, having the 

information ahead of time allowed Kirk's doctor to make the diagnosis much faster than 

otherwise would have been the case. Once Kirk was in the hospital, and on a new round 

of blood thinners, he was out of danger, and now is home and doing just fine. 

7 
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Our tests also detect genetic variations that have been linked with heart attacks, 

Crohn's Disease, macular degeneration, Parkinson's disease, Type 2 diabetes, and many 

others. As scientists continue to make breakthroughs, the number of diseases we can test 

for will only increase. Because new, reliable studies are being published weekly, even 

daily, we are regularly adding traits, diseases, and conditions to our testing. As we do so, 

we educate our customers on these latest scientific discoveries as they happen, but we 

only link them to our customers' personal data after we determine that they meet our 

standards of reliability. 

23andMe's DTC service is consistent with the FDA's long history of approving 

at-home, over-the-counter tests for HIV, hepatitis, and fecal blood (which might be 

caused by colon cancer). In addition, FDA already permits customers to have direct 

access to tests for potentially less worrisome conditions, such as high cholesterol and 

pregnancy. As the FDA explains on its website, these tests help consumers "detect 

possible health conditions when [they] have no symptoms, so [they] can get early 

treatment and lower [their] chance of developing later complications ... [and] detect 

specific conditions when there are no signs so that [they] can take immediate action." 

(See Attachment F). Although the results of the FDA-approved, over-the-counter tests 

may lead to customers receiving potentially distressing information, the FDA has 

permitted consumers to have direct access to these tests. Our tests are even less 

worrisome, as they do not diagnose a disease but rather only provide more limited data. 

V. How DTC Genetic Testing and 23andMe Help Develop and Accelerate 

Medical Research 

Besides the direct consequences of genetic testing on healthcare, 23andMe is also 

strongly rooted in the development of innovative solutions for accelerating medical 

research. One of the unique features of 23andMe' s DTC genotyping service is the 

company's focus on 23andWe, a community-centered research effort in which consumers 

are encouraged to contribute to medical science by answering surveys. 

To date, through 23andWe surveys, 23andMe has amassed one of the largest 

databases of genetic and health information in existence. This database includes over 

50,000 customers, of whom more than half have participated in at least one survey, and 

of whom roughly 10% have participated in at least 20 surveys in total. Our customers 

have answered over 10 million research questions. Last month, we published our first 

paper describing the results of a number of replications and several novel findings based 

on our customer data in the open access, peer-reviewed journal PLoS Genetics, and many 

more publications covering novel associations with more serious medical conditions are 

on the way. 

We believe that this model of research has the potential to transform research in 

this field in two specific ways. First, unlike most research studies to date where the 

primary source of funding has been a government agency such as the NIH, our research 

model has been primarily driven by consumer interest. Second, our active cohort of 

8 
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engaged customers has enabled us to pursue research into over 600 health conditions 

simultaneously, in contrast to traditional approach of funding a genotyping study for a 

single health condition at a time. This allows research to proceed at a much faster pace 

than possible in more traditional settings. For example, in March 2009, we began a 

project to study the genetics of Parkinson's disease. In less than a year, We were able to 

assemble a database of nearly 4,000 genotyped patients with Parkinson's disease, which 

enabled us to replicate previous findings as well as to discover a number of novel 

associations that had not previously been reported in the scientific literature. These novel 

associations are not yet reported to our customers because they have not yet been 

published in a peer-reviewed journal, which is one of our standards for inclusion. 

Because we have such a large research database and engaged customers, we are 

able to assess the clinical significance of genome associations. We are in a unique 

position to tell our customers, and the community, how clinically significant this 

information is. 

VI. 23andMe Supports a Strengthened Regulatory Framework for DTC Genetic 

Testing 

23andMe has been working with federal authorities - and looks forward to 

continuing to work with them - on improving the regulatory framework for all diagnostic 

testing, including genetic testing. These are complicated issues, as evidenced by the fact 

that FDA just held a two-day meeting this week and heard from numerous medical, 

laboratory, academic, and industry groups about how to change the regulation of 

laboratory testing. We have met with the FDA several times and have had discussions 

with them on how they might regulate this neW industry that does not fit squarely into 

any existing regulatory paradigm. We have also engaged with other officials at the U.S. 

Department of Health and Human Services and NIH. 

We have been working on a proposed framework that we will present to the FDA 

tomorrow. This framework takes into account rapid technological innovation, and will 

ensure the analytical and clinical validity of all laboratory tests. We hope that the 

framework will lead to a scalable regulatory system for the FDA to adopt. 

VII. Conclusion 

Thank you again, Chairman Stupak, Ranking Member Burgess, and Members of 

the Subcommittee for giving me the opportunity to speak with you today and for your 

work on these issues. 

9 
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Attachment A 
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HOME COMPANY TESTING SERVICES LIBRARY CONTACT 

Testing Services Overview 

National Genetics Institute (NGt) provides advanced clinical genetics testing 

services for blood screening, medical testing, and clinical research. The company 

offers industry leading assays for human immunodeficiency virus (HIV), hepatitis A, 

B, and C (HAV, HBV, and HeV) viruses and other infectious agents and has 

pioneered robust, sensitive, and high throughput methods for pooled specimen 

nucleic acid testing. 

biotechnology industry and screens miHions of plasma donations a year for blood 

borne infectious agents (Screening Services). The company also provides its 

advanced genetic testing services to physicians, hospitals, and clinics {Medical 

Testing} and has supported numerous pharmaceutical and biotechnology companies 

in the clinical development of new infectious disease and oncology therapies 

(gj[1ical Research Services), 

NG! is licensed as a clinical laboratory provider by both state and federal agencies, 

participates in a number of approved quality control programs, and holds active 

Biologics licenses from the US Food and Drug Administration (FDA) for screening 

of plasma for blood borne infectious agents. 

Copyright © 2006 laboratory Corporation 01 America, All Rights Reserved. 

Test Menu 

NGI offers a range of advf'lnced oenellCs assays 

S",)ect a specific rest below to obtain addillona! test 

Information. 
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Attachment B 
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*3andMe '.)enetics liSt 

Sea.ch23ar.cMa log i 

perS0r131. 

about 23andMe 

r.';am23andMe 

Policy FOfl.lf11 

who we are 

Bo;ujJ01 Direclors 

Edilonal AdviSors 

terms ot servIce 

1. Dcfinitions 

• ~23andMe" mellns 23andMa, Inc., whos(t principal place of business is at 1390 Shorebird Way, Mountain View. CA 94043. 

• "233ndWc Research" means scienHfic research !ha123andMe [}t!rforms with ttle inten! to pul)lish in a peer-reViewed ~denM:c journal 

2JandWe Research only uses Genetic and Self Reported Information from users who have given consent accordmg to the applicable 

Consent Document 23andWe Research activities do not include R&D 

• "R&D" mO;lns research and development activities performed by 23andMe on user data These achvllies may Include, among other 

things, Improving our SelV!ces and/Of offering new ploducts Of seNlces to you: performing quality control activities: conducting dnla 

analysls that may lead 10 and/or mclude t:;ommerciaiJzation With a third party. 

• "Servico" or "Services means 23andMe's products, software, services, and website (induding bul nol !imitmJ to tn-Xl. graphIcs, 

images. and other materia! and information) as accessed from time to time by the user, regardless if the use is In connection with an 

accounl or not. 

• "Personal Information" is information that can be used to identify you, either alone or in combmstion with otherinfolmation. 23andMe 

collects and slores the fol!owing Iypes of Personal Information: 

, "Registration Information" is the information you provide about yourself when regIStering for andlor purchasing our Services 

(e g. name, email. address, user 10 and password, find payment mformaHon) 

" "Genetic Information" Is Information regarding your genotype (e,g. the As, Ts, es, and Gs at particular locations In your 

genome). generated through processing of your saliva by 23<lndMe Qf by ils contractors, successors, and i1ss1gnees; or 

otherwise processed by and/or contributed to 23andMe. 

, '·Self.Rcported Information" is an information aueul yoursetr, induding your disease conditions, other hoaUh.fei.1l1ed 

mformation. personal Ira lis, ethnlcity, faml!y histolY. and other information that you enter Into surveys. farms. or features while 

signed In 10 your 23andMe account. Se!/,Reportoolnformallon is 'nduded In 23,mdWe Research only illt has been IndIcated for 

23andWe Research use on the website and if you have given consent as described In the appHcable Consent Document. 

, ··User ContentQ is all informatIOn, data, text. software, mUSIC, audio, photographs, graphics, video, messages. or other materials 

• other than Genetll:: Information and Self·Reported Informalion.generated by users of 23andMe Services and transmitted, 

whelher publicly or privately, to or through 23andMe. 

"Web Behavior Information" is information on how you use the 23andMe webSite (e.g. browser type, domains. page views) 

colieCled through log mes, cookies, and wet) beacon technology. 

• "Aggregaled Genetic and Self.Reported Information" IS Genetic and Self.Reported Information that has been stripped 01 

Registration information and combined with data from a number of Olher users sufficient to minimiz~ the POSSibility of exposing 

indivIdual-level intormalion while slit! providing sctenHfic evidence 

2, Acceptance of Termll 

Your use Of 23andMe's Ser'll!ces (excluding any sefVIces prow:led by 23andMe under a separate agreement) is subject to the terms of the 

legal agreement between you and 23andM0 set forth In these Terms of SeNica ("lOS"). Except as speCified herem, Ihese TOS apply to 

any use of the Services, iflcludjng but not limited to a) submitting a saliva sample for DNA extraction and proceSSing, b) uploading a digital 

version of your Genetic Information and mteracting with it on the 23andMe website, andlor c) creating and USing a free 23andMe account 

Without prOViding your saliva sample Of Genetic Information. In order 10 use the Services, 'Iou must first agree to the ros You may not use 

the Services if you do not accept the TO$. You can accept the TOS by (1) ciIC\w"lg to accept or agroo to the TOS, where thiS option is made 

«vmtable to you by 23andMI.l for any Service; or by (2) actually us,ng the Services. In Ihls case. you ilcknowledge and <llltee Innl 23andMe 

will treat your use of Ihe Services as acceptance of the TOS from that poinl onwards. In addition, when using particular 23andMe Services. 

'IOU shaH be subject to any guidelines or rules applicable to such services Ih;;l\ may be postefJ from time to time. AU such guidelines or rules 

are hereby incorporated by reference Into the TOS. 23andMe also may offer other services from lime to tima Iha! are governoo by different 

lermsofserJice. 

3,Prerequisites 

a. Whether you submi! your own safivil sample, a saliva sample for anyone for whom you have legal authority to agree, or otherwIse 

proVIde your own Genetic Information, you may not use the Services and may net accept the TOS if (1) you are not of legal age to 

fOlm a binding contract w,th 23andMe, or (2) you are a person barred from receiving the Services unuer tile laws of the jurisdictIon in 

which you ale reSident or trom which you use the Services. 

b In addWon 10 the com.htions abnve, if)loo contribute Of other ..... ise pfovid<t your own GeneHc information, you mus! be. eighteen (18) 

years of age or older to agree to Ihese TOS on behalf of yourself or lhasa for whom you have legal aulhonty to agree 

c If your use of the Services ;ncllJdes creating a 23andMe account, Without submitting a saliva samole or otherwise provi(ling Genetic 

Information, you must be thirteen (13) y<tars of age or older to usa Ihe Services and accept the ros 

4. Descriptionoflho Services 

The Services Inr.lude access to!he 23andMe public webslle and persona! genolyping services, including the coU<tclion and analySIS of youl 

saliva sample. Unless <;lxplicitly stated othorwlse. each new featura that augments or enhances the current SeNice shall be sublect to the 

TOS. You acknowledge and agree that the St!rvices are provided "AS·IS· and are based on the current stale of Ihe arl of genetiC research 

and technology in use by 23andMe at the time of the purchase or Viewing As research progresses and sCientific kno'.'I!!edge and technology 

evolve, 23a!'ldMe is constantly innovating 111 order to provl(je the best pcs.. ibh:l expeflence for U.s USBrs. You acknowledge and agree that the 
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form and nature of the Services which 23andMe provides may change from time to time without prior nolice 10 you. As part of this continuing 

innovation, you acknowledge and agree thai 23andMe may slop (pt:!rmanently or temporarily) providing some $eNices (or any fealures 

within the Services) to you or to users generalty at 23andMe's sole discretion, without prior notice to you. You may stop using the Services 

at any time. You do not need 10 specifically inform 23andMe when you stop using the Services unless you are requesting closure of your 

account. 23andMe assumes no responsibility for the use of Services outside lhe terms of this TOS or other applicable terms. 

In order to use the Services, you must obtain Internet access. either direclly or through devices Ihat access web·based content, and pay any 

service fees associated with such access. You are solely responsible for paying such rees. In addition. you must provide all equIpment 

necessary to make such Internet connection., inclvding a computer and modem or other access device. You are solely responsible for 

providing such equipment. You acknowledge and agree that while 23andMe may not currently have set a fixed upper limIt on the number of 

transmissions you may send or receive lhrough the Services or on the amount of storage spa<:e used rar the provIsion of any Service, such 

fixed upper limits may be set by 23andMe at any time, at 23andMe's discretion. 

5. Risks and Considerations Regarding 23andMe Services 

Once you obtain your Genetic Infonnation, the knowledge Is Irrevocable. You should not assume that any informatIon we may be able 

10 provIde to you. whelher now or as genetic research advances, will be welcome or positive. You should also undersland Ihat as research 

advances. in order for you to assess the meaning of your DNA Jr\ the context of such advances, you may need to obtain further services 

from 2JandMe or from your physician or other health care provider. 

You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential 

to alter your life and worldview. You may discover things aboul yourself that trouble you and Ihat you may nol have Ihe abilily to control or 

change (e.g .. your father is not genetically your father, surprising facts r~ated to your ancestry. or that someone with YOUf genotype may 

have a higher than average chance of developIng a speclhc condition or disease). These outcomes could have socia!, legal. or economic 

implications. 

The laboratory may not be able to process your sample, and the laboratory pro(:ess may result In errors. The laboratory may not be 

able to process your sample If your saliva does not contain a sufficient volume of DNA. you do nol provide enough saliva, or the results from 

processing do not meet our standards for accura<:y. If the initial processing fails for any of these reasons, 23andMe will reprocess the same 

sample at no charge to the user. If the s~ond attempt to process the same sample fails, 23andMe wm offer to send another kit to the user 

10 coUect a second sample at no charge. Iflne user dedines this. option, the usef is entitled sctely and exclusively to a complp.~e refund of 

the amount paid 10 23andMe, less shipping and handling. provided that the user shall not resubmit another sample through a future 

purchase or the service. If lhe uset opts to rec..eive another sample collection k.it and 23andMe's attempts to process the second sample are 

unsuccessful, 23andMe will not send add!tional sample collection kits and the user WIll be entitled solely and exdusively to a complete 

refund of Ihe amount paid to 23andMe, less shippIng and handling, provided the user shall not resubmit anolher sample through a lutvre 

purchase of the service. If the user breaches this policy agreement and resubmils another sample through a fulure purchase of the servIce 

and proceSSing is not successful, 23andMe wi!! not offer to reprocess the sample or provide the user a refund, Even for proceSSing that 

meets our high standards, a small. unknown fraction of the data generated during the laboratory process may be un·lnterpretable or 

incorrect (referred to as ~Errors~). As this possibility is known in advance, users are not entitled 10 refunds where these E.rrors occur. 

You should not change your health behaviors solely on the basis of Information from 23andMe. Make sure to discuss your Genetic 

Information with a phYSIcian or other health care provider before you act upon the Genetic Information resulting from 23andMe Services. For 

most common diseases. the genes we know about are only responsible for a small fraction of the risk. There may be unknown genes, 

environmental factors. or lifestyle choices that ate far more imparlant predlC\ors. If your data inrJlcale that you are not at elevated genetic 

nsk for a particular disease or condit[oo. you should not feel that you are protected. The OppOSite is also true; if your data indicate you are at 

an elevaled genetic risk for a particular disease or condition. it does not mean you w!!! definitively develop lhe disease or condition. In. either 

case, if you have concerns or questions about what you team through 23andMe, you should conlact your physician or other health care 

provider. 

Genetic research is not comprehensive. While we measure many hundreds of thousands of data points from your DNA only a small 

percentage of them are known to be (mated to human lrails or health conditions, The research community is rapidly leaming more about 

genetics. and an important mission o123andMe is 10 conduct and contribute to this research, In addItion. many e.thnic groups are not 

induded in genetic studies. Because interpretations provided in our service rely on these published studies, some interpretations may nol 

apply to you. Future scientIfic research may change the interpretation of your DNA. In the future. the scientific community may show 

previOus. research 10 be incomplete or inaccurate. 

Genetic Infonnation you share with others could be used against your interests. You should be careful about sharing your Genetic 

Information with others. In the future, bu:;;inesses or insurance companies may request Genetlc Information. The Genellc Information 

Nondiscnmination Act was signed into law in the United Slates in 2008. and some, but not aI!, states and countries have laws that prote<:t 

individuals with regard 10 thair Genellc Information. You may wanl 10 consul! a lawyer 10 understand the e'ttent of legal proteCtion of your 

Genetic Information before you share it With anybody. 

Furthermore. Genetic In[ormation that you choese to share with your physiCian or olher health erne provider may become part of your 

medical record and through that route be accessible to other health care providers andlor insurance companIes In the future. Genetic 

Information that you share with family, mends Of employers may be used against your inieresls. Even if you share Genetic Information that 

has no or limited meaning today, Ihat !nformatlon could have greater meaning In Ihe future as new discoveries are made. It you are asked 

by an insurance company whether you have learned Genetic Infol'ma!ion about health conditions and you do not disclose this to them, Ihis 

may be considered to be fraud. 

23andMe Services are fQr research, informational, and educatlQnall,lse only. We do not provide medical advice. The Genetic 

Information provlded by 23andMe is for research, informational, and educational USB only. This means two thrngs. First, many of the genetic 

discoveries that we report have not been clinicaJly validated, and the technology we use, which !s lhe same technology used by the research 

community, to date has not been WIdely used for clinical te~ti(lg. Second, in order to expand and accelerate the understandIng and practical 

application of genetic know!e.dge \11 health care, we Invite aU geno1yped users \0 parlicipate in 23andWe Research. Pal\lclpation in such 

research is voluntary and based upon an !RB-approved consent document. As a result of the current slate of genetic knowledge and 

understanding, our Services are for research. informational. and educational purposes only. The Services are not intended 10 be used by the 

customer for any diagnostic purpose and are not a substitute for professional medical advice. You should always seek the advice of your 
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physICIan or other health care provider with any questlons you may have regarding diagnosIs, cure, treatment, mitigation, or prevention of 

any disease or other medic<\1 conditIon Of impairment or the stalus of your health, 

23andMe does not recommend or endorse any speCIfic course of action, resources, tests, physicIan or other health care provid611>, drugs. 

hiologlcs, medical deVlces or other products. procedures. opinions, or other Information th",t may be mentioned on our websije. As explained 

on our websile. 23andMe believes that (a) genetics is only part of the pIcture of any fndividua!'s state of being. (b) the state of the 

understanding of Genetic Informalion is rapidly evolving and at any given lime we only comprehend part of Ihe picture oj Ihe role of 

genetics, and (c) only a trained physician or other health care provider can assess your current stale of health or disease. lakIng into 

account many factors, including in some cases your genetics as well as your current symptoms, if any. Reliance on any information orovided 

ty 23andMe, 23andMe employees, others appearing on our weosite at the inVitation of 23andMe. or other Visitors to our website is solely at 

your own risk. 

While we are licensed In Califomia as a Clinical laboratory, not aU jurisdictions require our Services to be subject to license, Therefore, we 

are not universally licensed by all slate, federal. or internaUonal authorities for genetic testing conducted for health and disease-rerated 

purposes. !n addition, there are certain jur'lsdictions in which we do not offer our Services because we do not have reqwed licenses 

6. User Representations 

By accessing 23andMe Services. you agree to, acknowledge, and represent as follows: 

a. You understand that infonnalion you tearn from 23andMe is not designed to diagnose, prevent. or treal any condition or disease or to 

ascertain the state of your health and that you understand that the 23andMe servlces are mtended for researcn. miormationai, and 

educational purposes only. You acknowledge that 23andMe urges you to seek the advice of your physician or olhe{ health care 

provider jf you have questions or concerns arising from your GeMtic Infonnation. 

b. You give permission to 23andMe, ils contractors, successors and assignees to perform genotyping services on the DNA extracted 

from your sahva sample and to disclose the results of analyses performed on your DNA to you and to others you specifically authorize. 

c. You represent that you are eighteen (18) years of age or older if you are providing a saliva sample or accessing your Genetic 

Infom,ation. 

d. You aTe guaranteeing that any sample you provide is your saliva; if you are I'lgreeing 10 these TOS on behalf of a person for whom you 

have legal authorization, you are confirming that the sample provided win be the sample of that person 

e. If you are a customer outside the U.S. providing a saflva sample, you confirm thalth!s act is not subject 10 any export ban or restricHon 

In the country In which you reside. 

r. You <lgree that any saliva SamplE: yOU provide and 311 resuHing uata may be transferred and/or processed nulskle the country in whIch 

you reside. 

You are warr<lnHng that you are not an insurance company or an employer aBempling to obtain information aboul an insured person Of 

an employee. 

h. You are aware that some of the informalion you receive may provoke strong emotion. 

L You take responsIbility for alt possible consequences (esultlng from your sharing with others access to your Genehc Information and 

your Self-Reported Information. 

i. You understand that a1l your Personal Information will be stored in 23andMe databases and will be processed in accordance WIth the 

23andMe Privar;y Stalement. 

k. Waiver of Property Rights: You understand that by providing any sample, having your Genetic !nformation processed, acceSSing your 

Genetic Information, or providing Self·Reported Information, you acquire no rights in any research or commercial products Ihat may be 

developed by 23andMe or its collaborating partners. You specifically understand that you wm not receive compensation for any 

research or commercial products that include or result from your Genetic Information or Self· Reported Inform>1tion. 

You agree that you have the authority, under the laws of the state or jurisdiction In which you resrde, to provide these 

representations. In case of breach of anyone of these representations 23andMe has the right to suspend or terminate your 

account and refuse any and all current or future use of the Services (or any portIon thereof) and you will defend and indemnify 

23andMe and Its affiliates against any liability. costs, or damages arising out of the breach of the representation. 

7. Account Creation, Customer Account, Password, and Security Obligations 

In consideration of your use of the Services. you agree to: (a) provide Il\Ie. accurate, current, and complete Registration Informalion about 

yourself as prompled by the Service; and (b) maintain and promptly update Ihe Reglslration Information to keep it true, accurate. current, 

and complete. If you provide any Registration Information that is untrue. inaccurate, not current, or incomplete, or if 23andMe has a 

reasonable ground to suspect that such information is unlrue,108ccurate, not current, or incomplete. 23andMe has the right to suspend or 

terminate your account and refuse any and all current or futuro use of the Service (or any portion thereof). 

After you have purchased our Service, you wltl create a password and account designat!on. You are responsible for maintainmg the 

confiden1iahty of the password and account, and are fully respons!ble for all activiti~$ that occur under your password or account. If you 

anow third parties to access 23~ndMe's websUe through your username and password, you will defend and indemnify 23andMe and its 

affiliates against any liability. costs. or damages, including attorney fees, ansing out of claims or SUIts by such third parties based upon or 

relatlng to such access and use. You agree 10 (a) immediately notify 23andMe of any unauthOrized use of your password or account or any 

other breach of security. and (b) ensure that you ecxit from your account at the end of each session. 23andMe cannot and Will not be Hab!e 

for any loss or damage ariSing from your failure to cornply with thiS Section 

8. 23andMe Privacy Statement and Dlsdosure of Information 

In order to use the Services, you must first acknowledge and agree to the Privacy Statement You may not use the Services if you do no! 

accept the Privacy Statement. You can acknowledge and agree to the Privacy Statement by (1) clicking to accept or agree to the Privacy 

Slatement, where this option Is made available 10 you by 23andMe for al'ly Service: or by (2) actuafly using lhe Services 

You acknowledge find agr-ee that 23andMe has the right to monitor any use of its systems by its personnel at any time and mamta!n copies 

documenting such morllloring. Our Privacy Statement sets forth the only expectations 01 privacy any individual shOlJld have in terms of 

usage of the 23andMe Services. website, or other systems. If you have given consent for your Genetic Information and Self·Reported 

Information 10 be used in 23andWe Research as dascnbed in the applicable Consent Document, we may include your Information in the 
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Aggregated Genetic Information and Self·Reported Informaflon we dis.close to third parties for the purpose of publication in a peer-reVIewed 

sCIentific lournat 23af1uMe may also include your information in Aggregated Genetic and Self·Reported Informalion disclosed 10 third-party 

non-profit andlor commerCial research partners who wlil not publish that information In a peer-reviewed scientific journal. 23andMe will never 

release your Indlvidual·level Genetic InformaUon and/or Self·Reported InformatiOn !o any third party without asking for (jnd receiVtng your 

explicit consent to do so, unless required by law. Further, you acknowledge and agree that 23andMe is free to preserve amI disdose any 

and all Persona! Information 10 law enforcement agencies or others If required to do so by law or in the good faith belief 1hat such 

preservation or disclosure is reasonably necessary to: (a) comply with legal process (such as a judicial proceeding. court order, or 

govemment inquiry) or obligations that 23andMe may owe pursuant 10 elhical and other professional rules, laws, and regulations; (b) 

a~force the 23andMe ros; (c) respond to daims that any content violates the rights of third parties: or (d) protect the rights, property, or 

personal safely of 23andMe, ils employees, its users, its clients, and the public. In such evenl we will notify you through the contact 

infonnatlon you hava provided to us in advance. unless doing so would violate the law or a court order, You understand that the technical 

processing and transmission of the Services, including your Personallnformalion, may involve (a) transmissions over vaflOUS networks; and 

(b) changes to conform and adapt to technical requirements of connecting networl<s, or devices, Finally, 23andMe may, in its sole discretion, 

restrict access 10 lhe website for any reason. 

Please refer 10 our Privacy Statement to read about data protection related to your Information. Sea our complete Privacy Statement here. 

9. Limited License 

You acknowledge that aU User Content. whether pub!lcly posted or privately transmitted, is the sole responsibility of lhe person from which 

such User Content Ofiginoled This means that you, and not Z3andMe, are enllrely responsible for all User Conlent that you upload, post, 

email, orotherwisa transmit via the Servicc. 

You acknowledge that the Services content presented to you as pari or the Services, whether original 23andMe Services conlenl or 

sponsored content within 1he Services, is protected by copyright andlor other intellectual property rights that are owned by 23andMe andlor 

the sponsors who provide Ihat conlenllo 23andMe (or by other persons or companies on their behalf). 23andMe grants you a Limited 

LIcense to copy and distribute free of charge, for non-commercial purposes onty, any of the Services content with the exception of content 

from "MD's Perspeclives~ in the "For the Experls" section ofthe website and any other conlent marked as not subject to Ihis Umtled License 

on the website. provided you: Ii) provide the Services content as it appears on the 23andMe website with no changes induding but not 

limited to presenllng selections which mighllend to misrepresent the subStance of the ServIces content; (ii) include the following attribution 

on the first page of any materials you dlstribute:@23andMe, Inc. 2008-2010. All rights reserved; distributed pursuant to a limited License 

from 23andMe; (ill) agree yOI,l have no right to offer anyone else any futlher (ight with respect to this Services content. Aside from the 

limited License provided in this paragraph, you may not modify. rent, lease,loan, sell, distributa, or create derivative works based on this 

Services content (eIther in whOle or in PArt) unless you have been specifically told Ihal you may do so by 23aodMe or by the owners of that 

content. in a separate agreement. 

10. Customer Conduct ~ Unlawful and Prohibited Use 

As a condition of your use of the Services. you warrant to 23andMe that you Will not use the Services for any purpose that is unlawful or 

prohibited by Ihese terms, conditions, or noUces, You may not use the Services in any manner that could damage, disable, overburden, or 

impair the Services or Interfere wlth any other party's use and enjoyment of the Services, You may not obtain or attempt to obtain any 

materials or Information through any means not inteniional!y made available or provided for through the Services. Furlhermore you agree 

not to use the Services to: (1) upload, post, email, or otherwise transmit any material that is derogatory. defamatory, obscene, or offensive, 

such as slurs, epilhets, or anything Ihal might reasonably be construed as harassment or disparagement based on race, cofot, nalional 

orlgin, sex, sexual orientation, age. disabillty, religious or political beliefs, or other statutorily protected status; (2) impersonate any person or 

enlity, induding, but not limited to, anyone affiliated with 23andMe, or falsely state or othe/Wise misrepresent your affllialion with a person or 

entity: (3) add your own headers, forge headers, or otherwise manipulate identifiers in order to disgufse the origin of any content transmitted 

through the Service; (4) "sta!k~ or olherwise harass another; (5) upload, post, email. or otherwise Iransmit any contenllhill you do not have a 

right to transmit under any law or under contractual or fiduciary relationships (such as inside information, proprietary and confidentIal 

infonnalion learned or dIsclosed as part of employment felationships or under nondisclosure agreements): (6) download <'ny file posted by 

another user of the SeNice that you know, or reasonably should know. cannot legally be distributed In such manner: (7) upload, post emaIl 

Of otherwise transmit any content that infringes any patent, trademark, Irade secret, copyright, or olMr proprietary rights ("RightS·) of 

23andMo or any other party; (8) harm minors in any way; (9) advertise or offer to sell or buy any goods or services tor any business 

purpose. unless such area specifically allows such messages; (10) upload, post. email, or olherwise transmlt any unsolicited or 

unauthorized advertising. promotional materials, "Junk maR,- "spam." "chain letters," "pyramid schemes," or any other form of solicitation. 

except in those areas that are designated for such purpose and only to the extent such content is authorized by law; (11) upload, post, 

email, or otherNise transmit any material that contains software viruseS or any other compoter code, files, or programs deSIgned to interrupt, 

destroy, or limit the functionality of any compuler software or hardware or telecommunications equipment; (12) interfere wilh or dIsrupt the 

Service or selVers or networks connected to the Service, or dIsobey any requirements, procedures, poliCies, or regulations of networks 

!;onnected to the Service; (13) vlolale lhese Terms of Service, any code of con duel or other guidelines which may be applicable for any 

particular area of the Service or have been communicated to you by anyone affiliated with 23andMe; or (14) intentionally Of unintentionally 

Violate any applicable focal, state, national. or international law, or any regulations having the force of law, 

You acknowledge and agree that you are solely responsible for (and that 23andMe has no responsibiUty to you or to any third party tor) any 

breach of your obligations under the TOS and for the consequences {including any loss or damage which 23andMe may suffer} of any such 

breach. In case of breach of anyone 01 these agreemenls 23endMe has the right to suspend or terminate your account and refuse any and 

alJ current or future use of the Services (or any pOrilon thereof) and you will defend and indemnify 23andMe and its affiliates against any 

liability, costs, or damages arising out of the breach of the representation. 

If you violate the lerms of Ihis Section andlor 23andMe has a reasonable: ground to sU$pecllhat you have vinlated the terms of this Section, 

23andMe has the right to suspend or terminate your account and retuS& any and all current or future use of the Service (or any portion 

lhereof), 

11. Export Control and Applicable Laws and Regulations 

Recognizing the global n<Jture of Ihe Intemet, you agree 10 comply with all local rules regarding onUne conduct and acceptable content 

Specifically. you agree 1) thaI providing your sample IS not ~bject to any export ban or restncflQn in the country jn whkh you reside, 2) that 
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your sample and data may be transferred and/or processed outside the country in whIch you reside, and 3) that you will comply with all 

Llppl-ieanle laws regarding the transmission of technical data expoded from the United Slates or the r.ounlry from which you access 

2'3andMe's Services online. 

12. Material Posted Through The Service 

23andMe will not. at all times. control any of the User Content posted via the Service and. as such. does not guaranlee Iha accuracy, 

integrity, or Quality of such non·23andMe content. You understand fhat by using the Services. you may be exposed to contei'll thalis 

offensive, Indecent. or objectionable. Under no circumstances WIn 23andMe be liable in any way for any non·23andMe content, including, 

but noll!mited 10, any errors or omissions in any such conlent, or for any Joss or damage of any kind incurred as a result of the use of any 

such content posted. emalled. or othef'Wlse transmitted via the Services. 

You acknowledge that 23andMe and its designees shall have the right {but not the obligation} in their sole discretion to pre·screen, review, 

filter, modify, refuse, or move any conlent that is ava~able via the Services. Without limiting the foregoing, 23andMe and its designees shall 

howe the right Ie remove any content that viOlates the TOS or is deemed by 23andMe, in its sole discretion, to be otherwise objeclionab!e. 

You acknowledge and agree that you must evaluate, and bear all risks associated with, the use of any content. including any reliance on the. 

accuracy, completeness, or usefulness of such content 

13. Material Provided to 23andMe ~ Your Proprietary Rights 

User Content. 23andMe does not claim ownership of the User Conlenl you provide to 23andMe (induding feedback and suggestions) or 

post, uplond, input, or submit to the Service. Unless otherllise specifIed, you retain copytlght and any other rights you already ho!d over 

User Conlen! thai you create and submit, post, or display on or through the Servlces, However, by submitting, posting, or displaying User 

Content, you give 23andMe, its affiliated companies, sublicensees {including but not limited to subhcens6es who avail themselves of the 

Limited License granted in Section 9 above) and successors and assigns a perpetual, irrevocable, worldwide, royallYHfree, and non· 

exclusive license to reproduce, adapt, modify, translate, publish, publicly periorm, publicly display, distribute, reproduce, edit reformat. and 

create derivalive works from any User Content that you submit, post, or display on or Ihrough the Services. You acknowledge and agree 

that this license includes a right for 23andMe to make such User Content available to other companIes, organizations, or Individuals With 

whom 23andMe has refationships, and to use such User Content in connection with the provision of those services. 

You understand that 23andMe, in performing the required technical steps to provide the Services to our users, may (a) transmit or distribUle 

your User Content over various public networks and in various media; and (b) make such changes lo your content as are necessary to 

conform and adapt that content to the technical requirements of connectIng networks, devices, services, or media. You acknowledge and 

flgree that this license shaH permit 23andMe to lake these actions, You represent and warrant to 23andMe that you have all the rights, 

power, and authority necessary to grant the above license. 

Genelic and/or Self~Reported Information. Disclosure of individual-Ieval GeneHc and/or Self~Reported Information to thifd parties will not 

occur without explicit consent, unless required by law. Note that 23andMe cannot contrrn any further distribution of Genetic andlor Self.. 

Reported Information thai you share publicly on Ihe 23andMe website. You acknowledge and agree that yo\'! are respons!ble for protectmg 

and enforcing those rights and that 23andMe has no obligation to do so on yovr behalf. 

Your saliva sample, once submitted 10 and analyzed by us, is processed In an irreversible manner and cannot be returned to you. See our 

website for more information on sample processing. Any Genetic Information derived from your saHva remains your lnfonnalion. subject to 

rights we relain as set fanh in these ros. You understand that you should not expect any financial benefit from 23andMe as a result of 

having your Genetic !nfonnation processed: made available to you; or, as provided in OUf Privacy Statement and Terms of Servica, shared 

with or included in Aggregaled Genetic and Self·Reported Information shared with reseatch partners, including commerdfil partners. 

Waiver of Property Rights. As stated above, you understand that by providing any sample, having your Genetic Information processed. 

accessing your Genetic In/ormation, or providing Self·Reported Information, you acquire no fights in any research or commerda! products 

thai may be developed by 23andMa or its collaborating partners. You specifically understand that you wi!! not receive compensation for any 

research or commercia! products that include or result from your Genetic Informalion or Self-Reported Information 

14, Indemnity 

You agree 10 defend and hold 23~ndMe, 311d lts subsidiaries. affiliates, officers, agents, contractors. partners, employees. successors, and 

assigns harmless from any claim, or demand, induding reasonable attorneys' fees, made by any third party due to or ariSing out of User 

Content you submit. post to, or transmit through the Service: your use of the Service; your connection 10 the Service; your violatlon of the 

TOS; or your violation of any rights of another. 

If you have submitted a saliva sample or otherwise prOVided yO\lr own Genetic Information, you will defend and hold harmless 23andMe. its 

employees, contractors, successors, and assIgns from any liability arising out of the use or disclosure of any information obtained from 

genolyping your saliva sample andlor analyzing your Genetic Information, whiCh is disclosed to you consistent wiih our Privacy Stalement or 

results from any third~party addHoos to tools we provide. In addition. if you choose to provide your Genetic andlor Self-Reported Infonnation 

10 !hird parties· whether mdividuals 10 whom you facil!\ate access, intentionally or inadverten!1y, or to third parties fOr dlagnost!c or other 

purposes· you agree to defend and hold harmless 23andMe, its employees, contractors, successors, and assigns from any and an liability 

;'msing from such disclosure or use of your Genetic andlor Self-Reported Information. 

15. No Resale of Service 

Other than pursuant to the terms of the Limited License in Section 9 of this ros or unless otherwise agreed ln a separate agreement 

between you and 23andMe, you agree not to display, distribule, license, perform, publish, reproduce. duplicate, copy, create derivative 

works from, mOdify, sell, resell, eKpjoit. transfer, or transmit for any commerCIa! purposes, an or any porlion of the Service, use of the 

Service, or access to the Service. 

16. General Practices Regarding Use and Storage 

You acknowledge that 23andMe may establish general practices and limits concerning use of the Services, Including Without !imitation the 

maximum number of days thaI Personallnformalion find Services conlent will be retained by the Service, the maximum disk space that wlll 

be allotted on 23andMe's servers on your behalf, and the maximum number of times (and the maxrmum duration for which) you may access 
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the Services 10 a given period of time. You acknov .. ledge and agree that 23andMe has no responsibility or liability for the deletion of or failure 

10 store any messages, other cornmunications. Of other content maintained or transrnilted by the Services; or for the loss of Genefic 

Information due to malfunction or destruction of data servel'S or other catastrophic events. You further acknowledge that 23andMe reserves 

the right to change these general practices and limits in its sole discretion. 

17. Modifications to Serv!c& 

23amJMe reserves the tight at any lime and from lime to lime 10 modify or discontinue, temporarily or permanently, the Services (or any part 

thereof) with or without notice. You acknowledge and agree that 23andMe shall not be liable to you or to any third party for any modification, 

suspension. or discontinuance of the Services. 

The Software that you use may from time to time automatically download and install updates from 23andMe. These updates are designed to 

improve, enhance, and further develop the Services and may take the form of bug fixes, enhanced func~ions, new software modules. and 

completely new versions. You agree to receIVe such updates {and permit 23andMa to deliver these to you} as part of your US9 of the 

Services 

You acknowledge that 23andMe may offer different or additional technologies to collect and/or interpret Genetic Information in the future and 

Ihal your initial purchase of the Service does nol entille you 10 any different or addilional technologies for collection or interpretation of your 

Genetic Information without fee, and that you wiU have to pay additional fees in order to have your Genetic Information coHected, processed, 

andlor interpreted using any future or additionallechno!ogles. 

18. Termination 

The TOS wfil ronlinue to apply unlll terminated by either you or 23andMe as set out in this Section. 

If you want to terminate your lega! agreement with 23andMa, you may do so by notifying 23andMe at any time in writing, which will entail 

closing your accounts for all of the Services that YOU use, Your notice shOuld be sent,ln wr!trng, to 23andMe's <lddress, which is set out at 

the beginning of the TOS. 

23andMe may at <lny time, terminate ils legal agreement with you (and in conjunction therewith, your password and accounl(s) if: (1) you 

have breached any provision of Ihe TOS (or have acted in manner which shows that you do not intand to, or are unable to compty With, the 

provIsions of Ihe TOS): (2) 23andMe is: required to do so by law (for example, where the provision of Ihe Services 10 you is, or becomes. 

unlawful); (3) the partner with whom 23andMe offered the Services to you has terminated its relationShip with 23andMe or ceased to offer 

Ihe Services to you: (4) 23andMe IS lransltioning 10 no longer providing the Services 10 users in the country or stale in which you reside o{ 

from which you use the Services; or (5) the provIsion of the Services 10 you by 23andMe is, in 23andMe's opinion. no longer commercially 

vi;:]ble. 

Any suspected fraudulent abusive, or illegal activity that may be grounds for termination of your use of the Services may be referred to 

appropriate law enforcemenl aulhorilies. You acknowledge and agree Ihat 23andMe shall not be lfable to you or any third parly for any 

termination of your access to the Services. 

19. Survival of Terms 

When the TOS come to an end, all of the legal rights, obligations, and liabilities that you and 23andMe have benefited from, been subject to 

(or which have accrued over time while the TOS have been in force) Of Which ate expressed to continue indefinitely. shall be unaffected by 

this cessation, and the provisions of sections 1 .(Definitions): 2.(Acceptance of Terms); 3.(Prerequlsjtes): 4.(Description ofthe Services); 5. 

{Risks and Considerations Regardil'\g 23andMe Services); 6.(Representations); 7.{Account Creation, Customer Account. Password and 

Security Obligations); 8.(23andMe Privacy Statement): 10.{Customer Conduct * Unlawful and Prohibited Use); 11 .(Export Control and 

Applicable Laws and Regulations); 12.(Malerial Posted through the Service); 13.{Maleri81 Provided 10 23andMe· Your Proprietary Righls); 

14.(lndemnity); 15.(No resale of Services);18.(Tarmination); 19.(Survival of Terms); 20.(Dealings with InformatIon Providers and Listed 

Resources); 21.(HypeI1inks and 23andMe Websile); 22.(23andMe proprietary Righls); 23.(DISCLAIMER OF WARRANTIES}; 24. 

(LIMITATION OF LIABILITY); 25.{Nolice); 27.{Viotation or Suspected Violation of TOS): and 28.{Mlscellaneous) shall continue to apply to 

such rights, Obligations. and liabilities indefinitely. 

20. D&aUngs with lnfonnatlon Providers and Listed Resources 

YOllr correspondence: or business dealings with-or partiopation in promotions of·informalion providers, vendors, andfor resources found on 

or through the Service, including payment and delivery of related goodS or services, and any other terms, -condItions, warranties., or 

representations associated with $uct1 dealings, are solely between you and such information provider or resource. You acknowledge and 

agree that 23andMe shall not be responsible or liable for any loss or damage of any sort incurred as the result ot any such dealings or as 

lhe result of the presence or such information provider or resources on the Service. 

21. Hyp&r'lnks and the 23andMe Website 

The Service provides. and third parties may provide, links to other siles and resources on the Inlernet. Because 23andMe has no conlrol 

over such sites and resources, you acknowledge and agree that 23andMe is not responsible for the avallabHlty 01 such external sites Qf 

resources. and does not endorse and is not responsible or liable for any content, advertising. products, or other malerials on or available 

from such sites or resources. You further acknowledge and agree that 23andMe shall not be responsible or liable, directly or indIrectly, for 

any damage or loss caused or alleged to be caused by or In conneclion with use of or reliance on any such content, goods, or services 

available on or through any such hyperllnked site or resource. 

22, 23andMe's Proprietary Rights 

You acknowledge and agree that 23andMe {or 23andMe's licensors, as applicable) own all legal righI, title. and interest in and to the 

Services. induding any inlellectuaf properly rights which subsist in the Services (whether those rights happen to be registered or not, and 

wherever in the world those rights may exist). You further acknowledge that the Services may contam information which is designated 

confidential by 23amJMe and that you shaH nol disclose such informatlon withoul 2JandMe's prior written consent. 

You further acknowtedge and agree tl'1.at the Services and any necessary software used in connection With the Services rSoftv.ri.m~") contajn 

propnelary and confidenflal fnformalion lha! is protected by applicable intellectual property and other laws. You further acknowledge and 
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agree that information presented to you through the Servlces or sponsors is protected by copyrights, trademarks, service marks, palents, or 

Diher proprietary rights and laws. Except as express!y authorized by 23andMe, 'fou agree no! to·and not 10 permit anyone else to-modify, 

rent, rease, loan. sell, distribute, or create derivative works of. reverse engineer, decompile, or otherw!S£l attempt 10 extract the source code 

of Ihe Services or Software or any part Ihereof, in whole or in part Software, if any, that is matle available to download from the Services, 

excluding software that may be made available by end~users through the Services, is the copyrighted work of 23andMe and/or its suppliers. 

Your use of the Software is governed by the terms of the end user tlcense agreement. if any, which accompanies or IS Included with the 

Software (~Ucense Agreement~), You may not install or use any Software that is accompanied by or indudes a license Agreement unless 

you firs! agree to the license Agreement terms. 

23andMe, Inc .. 23andMe, and other 23andMe logos and product and service names are trademarks of 23andMe and these marks together 

with any other 23andMe trade names, service marks, logos, dom~in names, and other distinctive br~nd features are the "23andMe Marks". 

Unless you have agreed otherwise in writing with 23andMe, other than through the Limited Ucense tn Section 9. nothing in the TOS gives 

you l! righllo use any 23andMe Marks and you agree nol to display, or use in any manner, 23andMe Marl<s. 

You agree that you shari not remove, obsCtJre, or alter any proprietary rjghts notices (indudlng copyright and trade mark notices) thai may 

be affixed 10 or contained wilhin the Services. 

Unless you have been expressly authonzed to do so in writing by 23andMe, you agree that m using the Services, you Wl!l not use any trade 

ruark, service mark, trade name. logo of any company or organization in a way that is Ilkely or intended to cause confusion about lhe owner 

or authorized user of such marKS, names, or logos. 

For any Software not accompanied by a License Agreement, 23andMe grants you a persona!, non-lransferable, and non-exclusive right and 

license to use the object code of its Software on a single computer. You may not (and may not allow any third party 10) copy, modify, create 

a derivative work of, reverse engineer, reverse assemble. or otherwise attempt to discover any source code, sell, assign. sublicense, grant a 

security interest in, or otherwise transfer any right in the Software unless this is expressly permitted or required by law, or unlass you have 

been specifically told that you may do $0 by 23andMe, in writing. This license is for the sale purpose of enabling you !o use and enjoy the 

benofit of the Servlces as provided by 23andMe, !n the manner permitted by the TOS. Unless 23andMe has given you specific written 

permission to do so, you may nol assign (or grant a sublicense of) your rights to use the Software, grant a security interest in or over your 

nghts to use the Software, or otherHise transfer any part of your rights to use the Software. You agree not to modify the Software in any 

manner or form. or 10 use modified versions of the Software, including (without limitatlon) for the purpose of obtaining unauthorized access 

to the Service. You agree not to access the Service by any means other than through the interface that is proVided by 23andMe for use in 

accessing the Service. Any rights not expressly granted herein are reserved, 

23, Disclaimer of Warranties 

YOU EXPRESSLY ACKNOWLEOGE AND AGREE THAT: (1) YOUR USE OF THE SERVICES ARE AT YOUR SOLE RtSK. THE 

SERVICES ARE PROVIDED ON AN "AS IS" AND "AS AVAILABLE" BASIS. 23ANDME EXPRESSLY DISCLAIMS ALL WARRANTIES OF 

ANY KINO. WHETHER EXPRESS OR IMPLIED, INCLUDING, BUT NOT LIMITED TO. THE IMPUED WARRANTIES OF 

MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, AND NON-INFRINGEMENT. (2) 23ANDME MAKES NO WARRANTY 

THAT (a) THE SERVICES WILL MEET YOUR REQUIREMENTS; Ib) THE SERVICES WILL BE UNINTERRUPTED, TIMELY, 

UNFAILINGLY SECURE. OR ERROR·FREE; (e) THE RESULTS THAT MAY BE OBTAINED FROM THE USE OF THE SERVICES WILL 

BE ACCURATE OR REUABLE: (d) THE QUALITY OF ANY PRODUCTS, SERVICES. INFORMATION. OR OTHER MATERIAL 

PURCHASED OR OBTAINED BY YOU THROUGH THE SERVICES WILL MEET YOUR EXPECTATIONS AND (e}ANY ERRORS IN THE 

SOFTWARE WILL BE CORRECTED. (3) ANY MATERIAL DOWNLOADED OR OTHERWISE OBTAINED THROUGH THE USE OF THE 

SERVICES IS DONE AT YOUR OWN DISCRETION AND RISK AND THAT YOU WILL BE SOLELY RESPONSIBLE FOR ANY DAMAGE 

TO YOUR COMPUTER SYSTEM OR LOSS OF DATA THAT RESULTS FROM THE DOWNLOAD OF ANY SUCH MATERIAL 14) NO 

ADVICE OR INFORMATION. WHETHER ORAL OR WRITTEN, OBTAINED BY YOU FROM 23ANDME OR THROUGH OR FROM THE 

SERVICES SHALL CREATE ANY WARRANTY NOT EXPRESSLY STATED IN THE TOS, (5) YOU SHOULD ALWAYS USE CAUTION 

WHEN GIVING OUT ANY PERSONALLY IDENTIFYING INFORMATION ABOUT YOURSELF OR THOSE FOR WHOM YOU HAVE 

LEGAL AUTHORITY. 23ANDME DOES NOT CONTROL OR ENDORSE ANY ACTIONS RESULTING FROM YOUR PARTICIPATION IN 

THE SERVICES AND. THEREFORE. 23ANDME SPECIFICALLY DISCLAIMS ANY LIABILITY WITH REGARD TO ANY ACTIONS 

RESULTING FROM YOUR PARTICIPATION IN THE SERVICES. 

24, limitation of liability 

WITHIN THE LIMITS ALLOWED BY APPLICABLE LAWS, YOU EXPRESSLY ACKNOWLEDGE AND AGREE THAT 23ANDME SHALL 

NOT BE LIABLE FOR ANY DIRECT. INDIRECT. INCIDENTAL, SPECIAL, CONSEQUENTIAL, OR EXEMPLARY DAMAGES. INCLUDING 

BUT NOT LIMITED TO. DAMAGES FOR LOSS OF PROFITS, GOOOWILL. USE, DATA OR OTHER INTANGIBLE LOSSES (EVEN IF 

23ANDME HAS BEEN ADVISED OF THE POSSIBILITY OF SUCH DAMAGES), RESULTING FROM: (a) THE USE OR THE INABILITY TO 

USE THE SERVICES: (b) ANY ACTION YOU TAKE BASED ON THE INFORMATION YOU RECEIVE !N THROUGH OR FROM THE 

SERVICES. (v) YOUR FAILURE TO KEEP YOUR PASSWORD OR ACCOUNT DETAILS SECURE AND CONFIDENTIAL, (d) THE COST 

OF PROCUREMENT OF SUBSTITUTE GOODS ANO SERVICES RESULTING FROM ANY GOODS, DATA, INFORMATION. OR 

SERVICES PURCHASED OR OBTAINED OR MESSAGES RECEIVED OR TRANSACTIONS ENTERED INTO THROUGH OR FROM THE 

SERVICES; (ef UNAUTHORIZED ACCESS TO OR ALTERATION OF YOUR TRANSMISSIONS OR DATA; (I) THE IMPROPER 

AUTHORIZATION FOR THE SERVICES BY SOMEONE CLAIMING SUCH AUTHORITY; orlg) STATEMENTS OR CONDUCT OF ANY 

THIRD PARTY ON THE SERVICES. 

25. Notice 

Notices to you may be made via either email or regular mail. 23andMe may also provide notices of c::hanges to the TOS or other matlers by 

displaying notices or links to notices to you generally on or Ihrough the Services. 

Official notices related to this TOS must be sen! to us at: 23andMe, lne 

AnN: General Counsel 

1390 Shorebird Way 

Mountain View. CA 94043 

Any notices Ihat you provide without compliance with this section on Notices shaH have no legal effect 
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26. Chang&S to the Terms of Service 

23andMe may make changes to the TOS from lime to time. When lhese changes are made, 23andMe will make a flew copy of the T05 

available on its website and any new additional terms WlII be made available to you from within. or through. the affected Services. 

You acknowledge and agree that if you use the Services after the da1e on which the ros have changed. 23andMe will treat your use as 

acceptance of the updated TOS. 

27. Vlofation or Suspected Violation of Terms of Service 

If you violate the terms of thesa TOS and/or 23andMe has a reasonable ground to suspect that you have violated the terms of these TOS, 

23andMe has the right 10 suspend or terminate your account and refuse any and all currenl or future use of the Services {or any portion 

thereof). 

28. M")sceUaneous 

a. EntJre Agreement The TOS constitute the entire agreement betv/een you and 23andMe and govern your use of the Services. 

superseding any prior agreements belween you and 23andMe on this subject. You also may be subject 10 addilionallerms and 

conditions that may appty when you use affiliate services. third·party content, or third~party software 

b. Applicable law and arbitration. Except for any disputes relating 10 Intetlectual property rights. obligations, or ~my infringement daims, 

any disputes with 23andMe arising out of or relating to the Agreement (tfOlsputesH) shall be govemed by California law regardless of 

your country of origin or where you access 23andMe. and notwithstanding of any conOicls of law plinciple$ and the United Nations 

Convention for the International Sale of Goods, Any Disputes shall be resolved by final and binding arbitration under the rules and 

auspices of the American Arbitration Association, to be held in San Francisco, California, in English, with a written decision slating 

legal reasoning issued by Ihe arbitrator(s) at either party's request. and with arbitration cost~ and reasonable documented attorneys' 

costs of both parties to be borne by the party thai ullimately loses. Either party may obtain injunctive relief (preliminary or permanenl) 

and orders to compel arbitration Of enforce arbitral awards in any court of competent jurisdiction. 

c. Waiver. The failure of 23andMe to exercise or enforce any right or provision at the TOS $hall not constitute a waiver of such right or 

provision. If any provision of the TOS is found by a court of competent jurtsd!ctlon to be invalid, the parties neverthetess agree that the 

court should endeavor to give effect to the parties' intentions as reflected in the provision. and the other provisions of the TOS remain 

In full force and effect. 

d. Term for' cause of action, You agree thai regafdless or any statute or law to [he contrary, any claim Of CAuse of action arising oul of 

or related to use of the Services or the ros must be filed within one (1) year after such claim or cause of action arose or be forever 

barred. 

e, AdmisslbiUty of printed version. A printed version of this agreement and of any notice given In electronic form shall be admissible in 

judicial or administrative proceedings based upon or relating to this agreement to the same extent and subject to the same conditions 

as other business documents and records orlglnaJly generated and maIntained In printed form. 

L Section titles. The section titles in the TOS are for convenience only and have no legal or contractual effect, 

g. Severability Clause. If any portion of these TOS Is found to be unenforceable. the remaining portion will remain in full force and 

effect. 

h. Amendments. We reserve the right to modIfy, supplement or replace the terms of the Agreement. effective upon posting: at 

• ... 'WW.23andl'vle.com or notifying you otherwise. If you do not want to agree to changes to the Agreement. you can terminals Ihe 

Agreement at any time per Section 18 (Term!nation). 

i. Assignment: You may n~ assign or delegate any rights or obligations under the Agreement. Any purported assignment and 

delegation shall be ineffective. We may freely assign or delegate all rights and obligations under the Agreement. tully or partially 

wilhout notice 10 you. We may also substitute, by way of unilateral nova lion, effecf!ve upon notice to you, 23andMe for any third party 

that assumes our rights and obligations under thiS Agreement. 

'evious version of this document 
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Attachment C 
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\l.. ··23andMe '.1Gnetics 'ust '.lot psrsoc,,1. 

>" 

$earch23al'dMe 

Physic:.ans 

SC~f'h~ls 

considerations 

2JandMe believes lhere is graal promise In helping people access <'Ind understand their genetic inlormaHon, but the advenl of personal 

genetics Is not without risk. To help you undarstanQ the benefits and potential drawbacks of accessmg your own genetic information, we 

present a few Issues you should cons,der befote joinmg 23al'luMe 

You may learn surprising things about yourself. 

There is a chance you <.:Ould be s!)lprised by what you learn about yovr genome. For e)(llmple, you CQuld discover that your lalhar is not 

your biological parent. You could learn Ihal individuals with your genetic profile are al increased risk of developing a currently Incurable 

disease. You might learn something unexpected about yom anceslry. III certain cases. these dlscovenes could have social. legal or 

economk: implications 

The laboratory process can result in errors, 

Our samples are processed by a f~deraUy hr.enseo laboratory using processes that are desIgned to deliver the highest quality data possible. 

However, a small, unknown fraction of Iha data g9neratad during the laboratOlY process may be Inconclusive or Incorrect 

Genetics is not destiny. 

Your genes are only one factor among many that inOuence who you are. It is important 10 recogniz.e that your diet, lifestyle, environment and 

evan luck can b& equally or mora important than genes in determining your future. 

n IS also Important 10 understand that 23andMe assesses the genetic chances of develOping a !}Iven disease or condition by consuUH'l9 

sClenlific reports Ihai associate certail'l genetic profiles wllh Il'lCreased or decreased risk and comparing your results to them. Though we ara 

confident In the quality of bolh our laboratory procedures and the scientific research we choose to include in our analyses, !hese aspects are 

currently the only iniormation our service takes Into account That means we cannot and do not diagnose diseases or medical conditions, 

proVIde medical adVice or othe!Wise assess your health. You should always r..ol'ltacl your physician. a genetic counselor or other 

professional if you ha\le any questions or concerns about what yO\) learn through 23andMe. 

Genetic research is not yet complete. 

Studies assoclaHng genes wUlllraits and condi!iOlls have not yet been performed In all ethnic groups. 8ecause we can only present the 

results of whate"er studies have been done, what you learn may not apply to someone With your ethrllC back.grounO. HQwe~er, 2~andMe 

could overcome this oootacle over lime-If enough peopla of various ethrilC bacJ(grounds are wlmng to anonymously share their genelic data 

and bilS;C: informatJon about thelr trdits and medil;",1 coodllions, we may be able to fill in some of those gaps. 

Future scientific research may change the interpretation of your DNA. 

It is possib!e thai future research may render current informallon incomplete or maccurate. The good news I'S thai significant progress IS 

bf;ling made In lhe field of !1enetic: ill>!ioc:iahon research, and we will keep you abreast of Ihe latest developments. 

You shou!d consider how others may use your genetic data before sharing it. 

Purchasing 23andMe's servica does 1'10\ reqUlre you to share your genetic information with anyone. but it does offal' you the optIon of making 

your data avai!able to others. Before you decide to share your informatIon, you should Cl)ns,der how those panies might IJse your genellc 

data now and 1n the future. For example. a motivated party with whom you share your data might be abla to use ourlools to discover things 

!hat you had not anticipated. It is also possible that future scientific research will shed new light on data you reveal today, 91ving it new 

significance Ihat you would rather not share wllh others 

Please see our policy forum if you wou!d like to learn more about these importMI conSlderahons. 
131 


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Attachment D 
132 


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about 23andMe 

Policy Forum 

C,,'toO";)je Info 

Jo~s 

who we are 

i3nar(iofDiredars 

Editon3.1 Advisors. 

news 

press release 

23andMc Enlists fnformed t\:fedical Decisions to Make fndependent Genetic 

Counseling Services AVailable to Customers 

l\IOUNT,\.IN VJEW, CA - June-3. 2UIU -13and~'Jc. Jnc., illcatling personal g.:o<.!tics company. hus \:n~llgcd 

tnfi..'mwJ Mct!i<.:al DC<.:isions. 1m;, (fnfonm:uDNA). 11 l);.uivllwiut' nelwork ofbt~urd·ccrtifi;:d genctics c,~pcn~. 1O 

oner illdcpcnJc.nt genetic counseling scrdc<::~ to new and cxiMing customers ofit.~ Pcr;;onal (kIlOIl1(: Service HI, 

"This III: ..... initiative with lu(bnm:dDN:\ BlC'\IlS Ihat 2J;mdMe CI!~lOn1Crs now have Ihc option \0 wlk ,lOOullhclr 

rC~\lJt~ with a board-certified gcn.::tic COUl1.~ctor who b:lS been <;pcciaHy trained in 2]andMc'~ IUHquC rcpom and 

proc~~scs." said Anne Wojcicki. :l)andl'v\c Pre~iocnt nno Co·Founder. 

"We cho:;c to Wl'lrk with lnfonllcdDNA hccau~c they arc a !c>1ding national ind<'!pcndcl1t provider of Rcnclicconnseling scrvlc~s." ~Iatcd WOJcicki. "We wMltcd to ~n~Uri: that the infom1ation our ellstomcrs receIve IS 

C\)llIpkldyobjcctinl."' 

23amiMe customers interested in !:.lIking with u genellc counselor from lnlormedDNA ean choose from two 

lcvds of~cnice. FOf those with general questions related to lhcir 23undMc results, un informa1ional I'cr~\lllal 

Genome Service (PGS) i~ avoi!ahle. Customer,; who want ,1IxJuJl,~c1or to conduct a Il1On.: thorough review 111 theIr 

t:l!mly and medical hi.~toric~, and tho~c whose result;;. ~how that they carry varian!;;. with potentinlly serious 

implit:adons, \;'<'10 choo~ Comprehensive Climea! Gl!nclic Counseling. Dclmnimng whether the Comprehensive 

Clinical GI!!lctic Coullsdillg option is <"lppmpriale is based 011 national cJinicol guidelines for genetic COlillsding 

relcrra!. 

2l1ndMc cust~)m.::rs WllO eho,)sc TO utili]..:: (he ;;cfvi,;.::;; oflnfantl.::dDNA wil! .::onllecl with :t genetiC C(I\lnS<,:!O( by 

pilone. Conv.::nient appOinlrtlCmS ,He ovailahk ~cven day~ a week and can he ~ehcdulcd online or hy calling a 

lb.lic<l!(,o toU-fTce phone line. lnfunnedDNA P:ltil,'nt 01rc Cuurdinalur.; :!f(! avai!nb!e to assi:.t customers in 

chl)using Ihe h:vcl orser'.'ice thai i$ riglH fUf them. All infonnmit)n will be hlpl "lri,;\!y ';,mfidcnlinL A glli0c \0 

the pricing fol' 23andM.-: eustomer~ who wi~h w Utiti7C the genedc c('mn~dil)g .~er\'icc~ i.~ listed Oil 

11ltormcdDNA'l' \~.-:b~ilc. 

"lnfonllCd Mcdic:ll Deci~jollS i!> pk3scd to be working with 2.hndMe In expand accC$~ to genellcs expert'>, 

especially for people who know oro. suspect they may be:lt risk lor hcredillllY disease. We sHlme 23andtl'1c tor 

vITcril1g ClIslomers cl,mvcniellt llct;es~ 10 our genetic counselors," ':;;lid Dilvid Patrick NI.~on. Iniormed Medica! 

D.-:cisinn~ ChicfE~.-:euti\'c Officer. 

Auout 2JandMl' 

23<1ndl\1c, Inc is a lc-::Idmg pt"rson:1J genetics company dNJic':lIed 10 helping individuals undcfst::mu their own 

g:o.:ncIJc inform;I!l\.)II lhrollgh DNA ilJl;\!y~is (cdltlol~lgle~ and wcb·bJ~ed inlcrao.:tivc loub. Tht: cOlllpilny':. Pcr~on:.t 

(i~nol\1e ~ef\'I<':el'l <':fl;l.blc~ individuals 1<'1 g!llil deeper ln~l!l;hl~ into their ancestry !Iud inhCl itcd tfa;t~. TIle vision 

for ~3::mdMc is to f'!cnoJ1ali7.c hcaltheJ.rc by makIng and supf'!oning 1\1canmgtu! discovcricl: thmugh genetic 

rc~c<lfch> 23anJMc, Inc., W1I$ founded m 2UU&, .mu thl;': n1rop:ll1Y IS udvbeu by u gHmp ufro.:nowllt:d C\pcrls in the 

ficld~ nfhutnan genetics, bi(linforillaties Jlld compnlcr science. 11$ ilIVcstMS IJIciude Gcncnrcd1. lnc, Gl\og1c Inc, 

(NASDAQ: GOOG) and New EnterprISe .o\~sociatc:-;. More 1I1jormntion IS lIvutlabk at \~WW :!Jandmc.c011l . 

. \hout fllf!)nll~d l't1~dical D('cisions, Inc. (InfoflnetlDN,\) 

Inl'umll'dDNA indlldc~ the !lIrge~t intlepmdcm network vI' genetic COtlll~c!ur~ <lnd is the only nuliullal proVIder 

whose ~crvices ;lfe a Clwercd benefit for most individuals wi1h eO!llmcrci:lJ hca!th fllsumllce, lis pi{lneering 

telephonic ~:;:rvice delivcry model !\;lnoves harri\;\'S to car.;: (geography. Janguage, culnml1 and ctinH;al <;rCC1:l!ty) 

for pall<:nl:. ~nu ha~ bct'n n."J.:ogmzed by the ln~til\llc tlf )I.'lcdicine und Surg:l'On~ vcncra!s' N<llltlnllt Call (1) A(lion 

~'U C'.mcef for innO'."I\;un~ ~nd dinic,lt e),ccllcnce. 

Log in 
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i\ledia Contacts: 

Rubenstein COllmHmic3tions 

1345 Ave oflhc Americas 

New York. NY 10105 

COlll~)Cl.S: 

Jane Rubinstein, 212~X43·82&7. jrubinst\:'il1hl~rubcmacin,colll 

Kuchel Nagler .. 212·~43·~:O 17. lllugI~r:(~:rub.;:n:"h:in.com 

/\dam !sscrlis, 212-843-8024. aj.:'.~crli$:ij.rtlb..:'ll:;"lcin.c(Jln 

Press Releases 

June 24, 2010 23andMe Makes New Discoveries in Genetic'S USing Novel, Web-based, Participant-<lnven Methods 

June 3, 2010 23andMe Enhsts Informed Medjcal Decis!ons to Make Independent Genetic Counseling Services AV;;ll)able 10 Customers 

October 13, 2009 23andMe Tesls NFL Players' ONA for Athletic Genetic Factors 

April 27, 2009 23andMe and Palomar Pomerado Health Partner 10 Gj'/~ PPH Members Access to Their Genetic Information 

March 31, 2009 23andMe Launches Free Online Commllnity For Moms and Moms-to-Se 

March 12,2009 23andMe launches Parkinson's Disease Gen'3tics IOttiative 

January 28, 2009 23andMe and mondoBIOTECH Partner to Advance Research of Rare Oiseases 

December 18, 2008 S111<:on Valley Veterans Sarah Imbach and larry Tesler Join 23andMe Management Team 

December 8, 2008 23andMe Announces Holiday Season Multi-Pack Discount 

October 30. 2008 TIME Magazine Names 23andMe's Personal Genome Service 2008 Invention of the Year 

October 2. 2008 23andMe Announces Breast Cancer Initiative 

September 9, 2008 23andMe Democratizes Personal Genetics 

September 9, 2008 23andMe and Ancestry,com Partner to Extend Access to Genetic Ancestry Expertise 

May 29. 2008 23andMe launches Consumer-Enabled Research Program to Actively Engage Individuals 10 Genetics Researc'1 

May 14.2008 2:'andMe and The Parkinson's Institute Announce Im1iaHv13 to Advance Parkinson's DIsease Research 

January 22, 2008 23andMe launcoes Web-Based Personal Genome Service 1".\ Outside U S. 

November 29. 2007 23andMe Selected as a 2008 Technology Pioneer by the World Economic Forum 

November 19. 2007 23andMe launches. Web-Based Service Empowering Individuals to Access and Understand Their Own Genelic 

Information 

November 16. 2001 23andf\,'1e to Hold Webcast Media Briefing 

May 22. 2001 23andMe, Inc, Compleies Series A financing 
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Attachment E 
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o 

ORRICK 

June 28, 2010 

Hon. Henry A. Waxman, Chainnan 

House Committee on Energy and Commerce 

2125 Rayburn House Office Building 

Washington, DC 20515-6115 

Hon. Bart Stupak, Chairman 

Subcommittee on Oversight and Investigations 

2125 Rayburn House Office Building 

Washington, DC 20515-6115 

)RfHCK. HiiRRINGTeN f~ $UT(Llfft;: 11.>' 

,\';Lur/lB1A t-UiHR 

~l)J li)Tt! '5f?:EET, j,W 

'-i,\SHlN(j1'(')N, Q,C 2()OOS'! 70() 

~I H·202"H9·2,/U(I 

(t);( c-!'/02<':~9-A5()rJ 

,'f\NW.OflRt(K.(OM 

Michael J. Madigan 

1202) 339·8523 

mmadigan®orrlck.com 

Hon. Joe Barton, Ranking Member 

House Committee on Energy and Commerce 

2125 Rayburn House Office Building 

Washington, DC 20515-6115 

Hon. Michael C. Burgess, Ranking Member 

Subcommittee on Oversight and Investigations 

2125 Rayburn House Office Building 

Washington, DC 20515-6115 

Re: Iune 14 2010 letter reQuest to Anne Wojcicki President 23andMe Inc. 

Dear Chairman Waxman, Ranking Member Barton, Chairman Stupak and Ranking Member 

Burgess: 

On June 14,2010, you sent a letter request to Anne Wojcicki, President of 23andJI.fe, Inc. 

("23andMe" or "the Company"), seeking information related to a June 8, 2010 announcement by 

the Company relating to a number of customer DNA samples. While we are in the process of 

producing responsive documents, the Company would like to take this opportunity to explain the 

incident At the outset. we understand that a representative of the laboratory processing and 

analysis company that 23andMe uses will meet with you this week and will certainly be in the best 

position to discuss the issues that occurred within their facility. Our description of events at the 

laboratory is limited to 23andMe's own understanding of what happened there. 

L How 23andMtI s Collection of Customer DNA Samples and NGr s Processing and 

Analysis Operate 

Preliminarily, we thought it would help to provide a step-by-step explanation of how 

23ancfMe operates with respect to the collection of customer DNA samples and their processing 

and analysis by the Company's third-party laboratory vendor, the National Genetics Institute 

("NGI'') a wholly owned subsidiary of the Laboratory Corpotation of America. 

First, customers visit the 23andMe website and purchase one of three products for 

personalized genetic testing. 23andMe then sends to each customer a kit to collect a DNA sample, 

including a vial for saliva marked with a unique barcode, from which customer DNA will be 
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o 

j t~C ~ f. lb {D J~tter request to Anne Wojcicki, President, 23andMe, Inc. 

June 28, 2010 

Page 2 

extracted and analyzed by N G 1. The customer deposits a sample of saliva in the vial and then sends 

it directly to NGI. The Company uses the unique barcode on each saliva collection vial to track and 

distinguish each customer's unique data while maintaining customer privacy. 

NGI is a Clinical Laboratory Improvement Amendments Program-certified laboratory that 

provides advanced clinical genetics testing services for blood screening, medical testing, and clinical 

research. Licensed as a clinical laboratory provider by both state and federal agencies, NGI 

participates in a number of approved quality control programs, and holds active Biologics Licenses 

from the U ,So Food and Drug Administration for screening of plasma for blood borne infectious 

agents. It also provides advanced genetic testing services to physicians, hospitals, and clinics and has 

supported numerous pharmaceutical and biotechnology companies in the clinical development of 

new infectious disease and oncology therapies. (see http://www.ngi.com/services/index.asj.l). We 

understand NGI complies \vith strict professional, regulatory, and corporate quality-assurance 

standards. 23andMe employees and consultants do not participate in the processing and analysis of 

data at NGI, although we rely on the data returned. 

Upon receipt of the saliva samples, NGI logs them by their assigned bar codes into NGI's 

system, and then processes them through "amplification," extracting the customers' DNA from 

their saliva samples. Each customer's DNA is then placed by pipette into an assigned slot contained 

on a well plate. The well plates used by NGI for testing of 23andMe customer samples are 5"x7", 

and contain 96 slots to allow for the processing of up to 96 customer DNA samples per plate. 

These well plates are then inserted into IIlumina-platform equipment for analysis of nearly 600,000 

data points that 23andMe provides to its customers. 

,""fter NGI completes the analysis, the collected data for each sample is linked to its 

accompanying bar code, and NGI electronically sends the data encrypted to 23andlvie through a 

secure FTP site. A single electronic file contains the data from one well plate. Upon receiving this 

data, 23andMe matches each barcode to the customer it belongs to, and then uploads the data from 

each barcode to the customer's individual account. Finally, 23andMe sends emails to its customers 

notifying them that their data are loaded and ready for viewing. 

IL Factual Background of the June 2010 Incident 

In brief, the June 2010 incident was caused by the hUlIlltil error of one ofNGI's certified 

technicians accidentally and wrongly inverting one well plate, which contained 96 customer DNA 

samples, nine of which failed processing by 180 degrees. This led to the Company's receipt of 

incorrect results, which were then transmitted to customers. However, 23andMe responded rapidly 

to the problem, advised consumers of the problem, removed the inaccurate results in less than 24 

hours, and provided those impacted with their correct results within six (6) days. While 23andMe 
137 


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o 

ORRICK 

June 14,2010 letter request to Anne Wojcicki, President, 23andMe, Inc. 

June 28, 2010 

Page 3 

takes the incident seriously, the Company rapidly resolved it. Since the incident, both 23andMe and 

NGI have further strengthened their quality conttol systems to avoid any further such problems. 

Detailed Account 

The aforementioned inversion of the well plate by 180 degrees caused NGI's computer to 

assign DNA information to incorrect barcodes, as the slots were assigned to barcodes in the 

computer before plate insertion. I note that the plate inversion could have happened in any such lab 

for any such tests coming from any hospital, doctor's office, or other NGI client - it was not a 

problem uniquely related to 23andMe samples. Unfortunately, NGI did not detect the error before 

it transmitted the erroneous electronic data file from the inverted plate to 23andMe. The Company 

received the NGI-generated, faulty data and uploaded it to each customer's individual account and 

emailed those customers that their data was available. Customers received these emails betweeu 6 

:lnd 9 p.m. on the evening of June 1. 

Early in the morning of June 2, 23andMe's Director of Engineering, Alex Khomenko, 

checked his email and was alerted that several 23aodMe customers had apparendy received 

inaccurate genetic reports. For example, in at least one instance, a customer had received genetic 

data indicating that the customer was the wrong sex. That sarne moming, Mr. Khomenko contacted 

the Company's Customer Service Manager, lYlichelle Klucsor, who said she had received similar 

customer complaints via email. 

To identify what happened, Mr. Khomenko ran a program covering 100% of the samples 

received from NGI on June 1. This program provided the names (which the customers provided 

when signing up with 23andMe) and sex (which the lab identified in its DNA analysis) of these 

customers. He then compared a customer's name against the lab-identified sex of the customer. He 

noticed that, in some instances, the gender of a customer's narne (for example, "Sarah") did not 

match the sex (for example, "male") contained in the lab report. He compiled a list of all such 

inconsistencies. Mr. Khomenko then reviewed the or:iginal electronic files sent from NG I on June 

1, 2010 and determined that all of the inconsistencies stemmed from a single electronic file, and, 

thus, he concluded, from one well plate. 

As Mr. Khomenko conducted his investigation, 23andMe alerted NGI of the error. NGI 

also conducted its own investigation. Around 1 pm on June 2, 2010, 23andMe concluded that the 

data from the single file containing 87 customer data sets contained inaccuracies and began the 

process of removing this data from the accompanying accounts. During this period, 23andMe 

continued discussions with NGI. At approximately 4 pm on June 2,2010 -less than 24 hours after 

customers had received the incorrect data - 23andMe deleted the erroneous data from the affected 

customers' databases and sent emails to each affected customer alerting them of the error. 
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o 

ORRICK 

June l~, 2010 letter request to Anne Wojcicki, President, 23andMe, Inc. 

June 28, 2010 

Page 4 

On June 5, NGI confirmed that its investigation had concluded that the issue stemmed from 

an error on a single well plate. NGI's investigation showed that the well plate had been inverted, 

causing the inaccurate customer data. NGI had reprocessed the data of all impacted customers 

while its investigation was ongoing. NGI re-ran the entire plate from both the amplified DNA 

samples and the original saliva samples provided by the customers. In doing so, NGI was able to 

confirm the accuracy of the updated data. 23andMe was able to upload correct reports into the 

affected customers' accounts on June 8, 2010. 

IlL Steps Taken by 23andMe and NGl to Ensure No Future Errors 

Since this incident, NGI has informed 23andMe that NGI has taken steps to help ensure 

that such errors do not recur. Specifically, 23andMe understands that NGI has modified the 

physical shape of its well plates to prevent them from being inverted in the machine that conducts 

the analysis. Attached please find a photograph of the old well plate and one of the newly-designed 

well plates that are now in use. 

For its part, 23and!vle has implemented improved quality-control procedures to doublecheck the accuracy of NGI's returned lab results before providing them to customers. For the 

period of June 8 through June 23, 23andMe cross-referenced a customer's name (which 23andMe 

predicts to be either male or female based on traditional name use) with the customer's sex 

information pulled from lab data. Doing so allowed 23and!v!e to identify potential errors, where the 

gender of a customer's name is inconsistent with lab-identified sex data for that customer. 

Starting June 24, 23andMe implemented a similar quality check with additional data. As of 

June 10,2010, 23andMe has been collecting customer date of birth and sex informacion pursuant to 

requirements that NGI is following. 23andMe's new process cross-references this customerprovided sex data with that generated by the lab data. Potential errors will be flagged where there 

are inconsistencies. 
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o 

ORRICK 

June 14,2010 letter request to ,\nnc Wojcicki, President, 23andMe, Inc. 

)une 28. 2010 

Page 5 

We look forward to speaking with you further about this issue. If you have any questions in 

the meantimt!, please call mt! at (202) 339-S523. . ·tt'.., " '1, r: ' " . Sinler ~t i \ / . / I [ ), , ------- / ! / / / /f.' ! 

0.ficl{* . Madigan 

Joshl.a p, Galper 

Stephanie Maya Cowles 
140 


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Attachment F 
141 


tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 150 here 78125A.103

~ U.S. Food and Drug Administration 

Home> Medical Devices> Products and Medical Procedures> !n Vitro Diagnostics 

Medical Devices 

Home Use Tests 

Home use tests allow you to test for some diseases or conditions at home. 

These tests are cost-effective, quick, and confidential. Home use tests can help: 

detect possible health conditions when you have no symptoms, so that you 

can get early treatment and lower your chance of deyeloping later 

complications (Le. cholesterol testing, hepatitiS testing). 

detect specific conditions when there are no signs so that you can take 

immediate action (I.e. pregnancy testing). 

• monitor condltions to allow frequent changes In treatment (l.e. glucose 

testing to monitor blood sugar levels in diabetes). 

Despite the benefits of home testing, you should take precautions when using 

home-use tests. Home use tests are intended to help you with your health care, 

but they should not replace periodic visits to your doctor. Many times, you 

should talk to your doctor even if you get normal test results. Most tests are 

best evaluated together with your medical history, a physical exam, and other 

testing. A!ways see your doctor if you are feeling sick, are worried about a 

possible medica! condition, or if the test instructions recommend you do so. 

Approvals 

• Find All FDA-Approved Home and Lab Tests' 

Related Links 

• How You Can Get the Best Results With Home Use Tests' 

How You Can Know If FDA Regulates an Over~ The-Counter Tese 

Links on this page: 

1. http://www . fda. gOY /MedicaIDevices/ProductsandMedicaIProcedures/lnVitroDiagnostics/LabTest/ucm 126079 .htn 

2. http://www . fda. gOY /MedicaIDevlces/ProductsandMedicaIProcedures/lnVitroDiagnostics/HomeUseT ests/ucm 125E 

54.htm 

3. http://www.fda.gov/MedicaIDevices/ProductsandMedicaIProcedures/lnVitroDiagnostics/HomeUseTests/ucm125E 

66.htm 
142 

Mr. STUPAK. Thank you. 

Dr. Vanier, President and CEO of Navigenics. Would you testify, 

please? 

TESTIMONY OF DR. VANCE VANIER 

Dr. VANIER. Chairman Stupak, Ranking Member Burgess, Chairman Waxman, and members of the subcommittee, thank you for inviting me here today to testify regarding the role of personal genetics in prevention and wellness. 

I am Dr. Vance Vanier, the CEO of Navigenics, a personal genetic testing company in California. I am trained originally in 

emergency medicine and have been extraordinarily privileged to 

have been on the front lines of patient care for over 10 years now. 

I am currently on the faculty at Stanford Medical Center. I received my medical degree from Johns Hopkins. I did my residency 

training at the University of California at San Francisco. 

While my medical career has taken me certainly to many places, 

there is one thing that I have seen over and over again; it doesn’t 

matter whether you are in the inner cities of Baltimore or Oakland. 

It doesn’t matter whether you are in the more privileged neighborhoods of San Francisco or Stanford. We have an epidemic of preventible chronic disease that crosses all walks of life, that crosses 

all geographies. 

So, every time that I diagnose or treat a heart attack in the 

emergency department, it is a failure of prevention and wellness. 

Every time that I diagnose diabetes in a person due to their obesity, it is a failure of prevention and wellness. Every time I diagnose a late stage colon cancer case because that patient never got 

around to getting their colonoscopy, it is a failure of prevention and 

wellness. 

Most of us in the room here today know what we are supposed 

to do for our health, but we as a society are challenged by the fact 

that we can’t seem to be motivated to engage in healthy lifestyles 

or follow our physician’s recommendations, and that failure is the 

cornerstone of why millions of Americans suffer from preventible 

disease today. 

So it is in this context of tremendous unmet need that genomics 

is emerging as a powerful behavioral tool to motivate action. There 

is a body of evidence that shows that when people understand their 

genetic information, they are more motivated to act to make positive lifestyle choices. 

There is a body of evidence that shows that this sort of testing 

is safe and does not cause long-term, undue psychological harm. 

And, clearly, there is a high interest in the American public for 

testing like this. 

And so, given the scope of the unmet need, given the potential 

power of this information, and given the fact that there is high societal interest, we have an extraordinary opportunity in this room 

today to lay the foundation for standards of how we can responsibly 

deliver this information with appropriate safeguards. And I can 

certainly think of no better way to set the stage of this dialogue 

than with this subcommittee and the FDA. 

As you hear my testimony today, there are five main points that 

I would like to reinforce. 


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First, not all genetic testing companies are the same. There is a 

huge variance in standards that different companies bring to bear. 

Second, since we were founded by Dr. David Agus, an oncologist 

of national repute, and Dr. Dietrich Stephan, who is a human geneticist who trained under Francis Collins at the NIH, we have 

sought to have the most stringent qualities of science. Indeed, our 

genetic selection criteria meets or exceeds standards put out by the 

CDC. 

Third is the fact that we are passionately clinically focused. We 

believe that you should only test for clinically actionable information. Every one of our customers is supported by genetic counselors 

since our founding. And we primarily work through physician 

groups—national physician groups, as well as medical centers such 

as Duke, Scripps, Cleveland Clinic, Mayo Clinic, international affiliates of Johns Hopkins. Indeed, virtually all of our tests come 

from physician groups or prevention and wellness programs such 

as ones you might find in the corporate channel. 

Fourth is the extremely high standard of our lab operations. We 

are one of the very few companies in our space that own and operate our own lab. We are CLIA-certified, and we are the only company in our space to be approved by all 50 States, including the 

State of New York, which has some of the most stringent regulatory standards of any State in the U.S. 

Finally, fifth, we believe that a customer’s genetic information 

should be completely private and secure. We do not resell or share 

this information to any third parties, such as pharmaceutical companies. 

So, in summary, we believe that a responsible approach, coupled 

with a thoughtful regulatory framework, can set a successful foundation for this transformational innovation that is happening in 

prevention and wellness today. And we certainly look forward to 

discussing it with you at length. 

Thank you. 

[The prepared statement of Dr. Vanier follows:] 


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Committee on Energy and Commerce 

Subcommittee on Oversight and Investigations 

United States House of Representatives 

Hearing on 

"Direct-to-Consumer Genetic Testing 

And the Consequences to the Public Health" 

Written Testimony of 

Vance Vanier, M.D. 

Chief Executive Officer 

Navigenics, Inc. 

July 22, 2010 

Chairman Stupak, Ranking Member Burgess, and Members of the Subcommittee, thank 

you for the opportunity to testify on the important role that personalized genetic testing can 

play in prevention and wellness with the overall goal of improving public health. 

I am Vance Vanier, M.D., Chief Executive Officer at Navigenics, a genetic testing 

company based in Foster City, California. I am trained in emergency medicine and have worked 

on the front lines of patient care where I have observed first-hand the overwhelming need for 

new preventive technologies. I continue to serve on the clinical faculty of Stanford Medical 

Center, received my medical degree from the Johns Hopkins School of Medicine and completed 

my residency training at the University of California, San Francisco, and Highland Hospital in 

Oakland, California. 

We welcome the Subcommittee's interest in personalized genetic testing, which is 

rooted in a long history of congressional promotion of innovation and balanced, science-based 

regulation. From the 1975 Asilomar Conference on the regulation of recombinant DNA (rONA) 

research through this Committee's biotechnology hearings led by Chairman emeritus Dingell 

and then-Subcommittee Chairman Waxman in the 19805, to the recent, extraordinary success 

of the historic Human Genome Project, Congress has worked collaboratively with regulatory 

agencies, academe and industry to create the conditions that allow American researchers and 

companies to lead the world in creating new life-saving and life-improving health solutions. 

About Navigenics 

Mr. Chairman, Navigenics is a company that simply would not exist without the longterm commitment to the Human Genome Project that this Committee and this Congress made 

and sustained. As you know, the Human Genome Project was an unprecedented 13-year, $3 

billion project completed in 2003, coordinated by the United States Department of Energy and 

the National institutes of Health (NIH). Our co-founders, and each one of our dedicated 

employees at Navigenics, have been committed to pursuing the scientific possibilities created 

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by the first complete mapping of the human genome, which NIH rightly described as one of 

"the great feats of exploration in human history, an inward voyage of discovery rather than an 

outward exploration of the planet or the cosmos ... which has given us the ability, for the first 

time, to read nature's complete genetic blueprint for building a human being." 

Achieving this spectacular goal, and opening the door to the promise of personalized 

health and medicine, led David Agus, M.D., a leading oncologist, and Dietrich Stephan, Ph.D., a 

leading human geneticist, to found Navigenics in 2006. The company's overall goal is to 

improve health outcomes in individuals across the population. Navigenics educates and 

empowers individuals and their physicians with knowledge of their genetic predispositions, and 

then motivates them to act on the information to prevent the onset of disease, achieve earlier 

diagnosis, appropriately manage disease, or otherwise lessen its impact. 

Navigenics offers clinically-guided personal genetic analysis exclusively through two 

professional channels: 1) medical centers and physicians, with clinical research partners like 

the Mayo Clinic, Duke Medicine, Scripps, Cleveland Clinic, the American Academy of Private 

Physicians, and MDVIP, the nation's largest network of physicians practicing preventive and 

personalized healthcare, and 2) as a benefit through employer wellness programs at Fortune 

100 companies. Progressive companies who wish to promote prevention awareness have 

offered the Navigenics Health Compass to employees as one tool within a broader health and 

wellness program without ever gaining access to their employee's personal genetic data. 

It is important to note that consumers currently cannot enroll in Navigenics services simply 

through visiting our website. Navigenics will only test consumers who confirm that they are 

over the age of eighteen. 

We firmly believe that a healthcare professional should be an integral part of the 

personal genetic analysis process, which is why we have our own team of genetic counselors 

who are available to educate and support both healthcare providers and our customers. Each 

of our genetic counselors is board certified by the American Board of Genetic Counseling and 

has received extensive specialty training in personal genomic counseling. All individuals who 

are interested in testing or have received genetic testing through Navigenics have access to 

these genetics experts to address questions and enable informed decision-making. Our 

members' personal physicians have unlimited access to our staff of genetic counselors as well. 

It is worth noting that these professionals adhere to a rigorous set of bioethical standards and 

receive no incentives to guide individuals to test when it may not be appropriate. Every 

individual who chooses to test with Navigenics is personally contacted to schedule a genetic 

counseling consultation to discuss the results, identify resources, and facilitate the dialogue 

with their healthcare providers. The majority chooses to engage in this service and report 

feeling empowered and better informed by the interaction. 

Over the past three years, a fundamental focus of our service has been developing 

physician education programs and clinical tools to facilitate clinical integration for both private 

and corporate physicians. Navigenics' genetic counselors focus a significant portion of their 

efforts on working with physicians to provide end-to-end support from basic education to 

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clinically-guided information about specific patient results in the context of their personal and 

family history. The Navigenics Physician Portal is a security-enabled, centralized tool that 

enables ordering physicians to receive and manage their patients' Navigenics results and access 

ongoing clinical updates. 

Unlike other companies that test for untreatable and degenerative diseases, such as Lou 

Gehrig's Disease (ALS), or traits such as eye and hair color or ancestral lineages, Navigenics 

solely focuses on medically-relevant health conditions and medication sensitivities that can 

help motivate behavior change and inform healthcare decisions in conjunction with a 

healthcare provider. Identifying an individual's genetic risk for common conditions like celiac 

disease and heart disease, or an increased likelihood of having an adverse reaction to a specific 

medication, can help them take action towards improved health. Additionally, we provide 

extensive health information in patient-friendly language. Navigenics thereby provides a 

foundation of highly-vetted resources on key prevention steps and established medical 

guidelines that can help avoid or lessen high morbidity chronic illnesses such as diabetes, heart 

disease, and high blood pressure. All of these afflictions, as you know, alone lead to seven in 

ten deaths in the United States and a staggering 75 percent of our national health care costs. 

Navigenics operates in full compliance with all existing state and federal regulations and 

is the only consumer genomics company that is approved by state regulators to operate in 

every state, including the state of New York. We own and operate our own CLiA-certified 

laboratory in West Sacramento, California, which is currently regulated by CMS. We are 

dedicated to maintaining the privacy and security of all of our customers' genetic information, 

never selling nor sharing individuals' personal genetic information with third parties and 

ensuring that all of our all our operations are consistent with the Health Insurance Portability 

and Accountability Act (HIPAA). 

Importance of Personalized Genetic Testing 

Personalized genetic testing is already demonstrating significant value for individual 

consumers and patients. At an historic time when our country has passed healthcare reform to 

systemically address our health crisis, we have been counseling one patient at a time on 

strategies they may wish to consider discussing with their doctors in the pursuit of improved 

health. 

Over the past several years we have worked with a broad range of individuals in which 

personal genomic testing positively impacted their health - whether it be from early 

identification of macular degeneration that resulted in halting visual loss before it progressed, 

to initiating and maintaining long-avoided lifestyle modifications to minimize the risk for 

diabetes and cardiovascular disease, to helping a physician select the right type of statin to 

yield the desired therapeutic effect. The promise of personalized medicine is not yet fully 

realized, but both patients and providers have already experienced its beneficial effects. 

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We are seeing positive results not just on an individual basis and within our partner 

groups but also within study populations. In cooperation with Eric Topol, M.D., of the Scripps 

Research Institute, Navigenics launched the Scripps Genomic Health Initiative (SGHI) in October 

2008. This research study, independently approved by Scripps own Institutional Review Board 

(lRB) is the first large-scale research study in our country to assess consumer response to 

personalized genomic risk assessment over a period of 20 years. Early results from have 

indicated that customers are eager to learn more about their genetic predispositions to disease 

and do not show increases in anxiety or distress after receiving their results. A total of 82.4 

percent respondents indicated that they would want to know their genetic risk and over 80 

percent said they would recommend genetic testing for friends and family. Along with the 

research team in Dr. Topol's lab, we will be eagerly awaiting and analyzing the results from 

this-and other relevant studies-in the future. 

These are just some of the meaningful benefits emerging within personalized medicine. 

Customized therapies are becoming "best practices" in hospitals, ensuring patients receive 

optimum treatment from the start of care. This been particularly effective for cancer 

treatment, but personalized medicine is also is informing treatment for cardiovascular disease, 

infectious disease, psychiatric disorders and transplantation medicine. 

These benefits are accruing on personal as well as financial fronts. For example, genetic 

testing is performed to properly dose the blood thinner, warfarin. If this testing were 

accomplished for all patients in the United States at a cost of $125-$500 per test, the 

approximately 17,000 strokes, 85,000 serious bleeding incidents and as many as 43,000 

emergency room visits could be avoided. This alone could represent a savings of $1.1 billion 

annually. We know that many drugs are only effective for 50 percent of patients for whom 

they are prescribed. Not only is genetic testing widely utilized with breast cancer patients to 

ensure that they receive the appropriate drug, but these technologies reduce trial-and-error 

prescribing. Personalized medicine also allows providers to minimize the side effects of drugs, 

increasing patient compliance. This is particularly important for conditions like asthma and 

diabetes, which are exacerbated by patient non-compliance. 

Future Regulation of Personalized Genetic Testing 

We stand at a critical juncture in our country's ability to realize the true potential of 

personalized medicine and of the landmark Human Genome Project. While our nation's human 

and financial resource investments to date have yielded impressive genomic information and 

data, the true value of this monumental project will be in how this knowledge will be applied in 

improving the quality of life and health of all Americans. Furthermore, our own national 

leadership in the life sciences is at risk. Abrupt or overbroad regulation can chill genomic 

discoveries and applications in this country, driving innovation and investment to other 

countries and attracting with it thousands of high value jobs in this key growth industry. 

At issue is the best regulatory pathway for services like ours. As you know, just this 

week, the Food and Drug Administration (FDA) began a comprehensive process of reviewing 

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regulatory approaches to laboratory developed tests (LDTs) with a two-day public meeting. At 

the same time, the FDA is being criticized for, and is undertaking self-scrutiny of, the rigor and 

appropriateness of the entire medical device premarket clearance pathway, under section 

SlO(K) of the Federal Food, Drug and Cosmetic Act, which potentially applies to LOTs. 

Despite this continuing uncertainty, we have pursued a proactive dialogue with the FDA 

for more than three years, and we continue to welcome balanced federal oversight. Even 

before we launched our service, Navigenics was a leader in encouraging collaboration, dialogue, 

and compliance with regulatory authorities - at both the state and federal levels - and in 

seeking to develop uniform standards for the industry's technologies and services. 

Navigenics has been a leader in working with industry groups, patient advocates, and 

other interested parties in promoting industry standard-setting and encouraging the 

cooperation of our industry colleagues. Because genotype-based risk prediction for common, 

multifactor diseases is an area of continued innovation, more work must be done to 

standardize markers used; to better explain the contribution of genetics to common, complex 

diseases; and to incorporate common genetic variants into clinical practice. We are happy to 

provide the Subcommittee with additional information regarding these important efforts to 

assure and strengthen the transparency and standards in our important new sector. 

Mr. Chairman, we have great confidence in the government's ability to find a balanced 

path forward-one that allows for innovation while protecting the public. We are, of course, 

committed to complying with any and all regulatory requirements as the Agency, States and 

Congress work towards an effective consensus. Congress has already succeeded in protecting 

personal genetic data through enactment of the Genetic Information Non-Discrimination Act in 

2008, which prohibits the improper use of genetic information in health insurance and 

employment. We believe this Subcommittee can help assure the same information is protected 

and safely applied in the service of safeguarding human health. 

To this end, we would support the creation of an outside advisory committee to guide 

the FDA as it determines how to regulate LDTs and personal genetic testing services. This 

week's public meeting should be just the beginning of an open dialogue with the community of 

stakeholders that will be critical to the Agency's ability to reach consensus on the best way 

forward. A major hurdle for us and other test developers has been the lack of clarity about the 

process. This lack of clarity has affected our ability to maintain and grow our business. The 

economy is still in a fragile period and the federal government should continue to pursue policy 

that will help small businesses grow and generate new high skill and high wage jobs, and speed 

our economic recovery. 

Conclusion 

Mr. Chairman, thank you for the opportunity to testify today. Personalized genetic 

testing offers important benefits in strengthening prevention and well ness, improving health 

literacy, and reducing health care costs for the American public. I urge this Subcommittee and 

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Congress to work closely with the FDA, academic scientists, and companies like Navigenics, to 

develop reasonable, risk-based and science-based standards that will assure the continued 

availability of innovative health services like personalized genetic testing. 

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Mr. STUPAK. Thank you, Doctor. 

Next we will hear from Dr. David Becker, chief scientific officer 

with Pathway Genomics Corporation. 

Dr. Becker. 

TESTIMONY OF DAVID BECKER, PH.D. 

Mr. BECKER. Mr. Chairman, thank you so much. And thank you 

for the opportunity to testify here today. 

I am the chief scientific officer at Pathway Genomics, a San 

Diego-based genetic testing company. Pathway operates its own onsite, CLIA-certified, and California State-licensed laboratory. We 

provide physicians and their patients with reports based on advanced genetic testing technology and validated genetic information, allowing them to make informed health decisions. 

Pathway has validated its laboratory-developed genetic tests and 

established quality assurance protocols according to Federal standards and guidelines to ensure the accuracy of the data we provide. 

The discovery and analysis of the human genome represent the 

dawn of a new era in health care delivery. With this expanded 

knowledge, individuals can develop personalized prevention and 

therapeutic strategies. At the current rate, we can expect significant additional discoveries that will allow health care providers to 

provide their patients with more effective personalized care, delivered at lower cost, with fewer complications. 

Some have taken the position that our understanding and association with health outcomes is not yet strong enough to be interpreted and/or integrated into clinical care. We would concur that 

the research has to be analyzed objectively and reported responsibly. It is not true that consumers, however, are unable to benefit 

from access to this information. 

Pathway currently offers three health-related reports, as well as 

a genetic ancestry report. These reports provide an assessment of 

genetic risk for as many as 25 different health conditions, indicate 

the presence of genetic markers associated with 37 different recessive genetic diseases or conditions, and project the likely response 

to nine different medications. 

In addition to providing understandable genetic reports, Pathway 

offers access to clinical experts to ensure that our customers and 

their physicians understand their test results. Pathway’s staff physicians and genetic counselors are available for guidance and support, both pre- and post-testing. These qualified experts review 

every health report prior to delivery, looking for indications that 

warrant separate communication, encouraging the customer to 

speak with one of our counselors—genetic counselors, that is—or 

physicians at no additional charge. 

Pathway believes that genetic testing can be offered directly to 

customers in ways that help them improve their health without 

creating unacceptable risks. Nevertheless, we voluntarily suspended consumer ordering via the Internet and retail as we work 

with FDA to address their concerns over direct-to-consumer genetic 

testing. 

Pathway is committed to improving the health and wellbeing of 

our customers. We are also committed to ensuring that everything 


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we do is based on rigorous scientific standards and complies with 

all applicable laws and regulations. 

Genetic testing holds great promise to help people live more 

healthy and productive lives. Allowing consumers, in consultation 

with health care professionals, to access their genetic information 

empowers healthy and positive choices. We are excited about the 

future of genetic testing and look forward to continuing our work 

with FDA, Congress, and our colleagues to ensure the services we 

offer are of the highest quality and value to the American public. 

Let me conclude by thanking the committee for focusing attention on both the challenges and opportunities that this new industry presents. I look forward to answering your questions. 

[The prepared statement of Mr. Becker follows:] 


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PREP ARED STA 1'1:111 ENT OF 

DAVID BECKER Ph.D. 

(,IIIEF SCIENTIFlC OFFICER, PATHWAY GENOMIC'S 

BEFORE TilE 

U.S. l·rOUSE OF REPRESENTATIVES 

Cmv1i'vllTTEE ON ENERGY AND COI\.II\.IERCE 

July 22, 2010 

Mr. Chairman and Committe<.: members, 

Thank you for the opportunity to tcsti Iy to you today. My name is Dr. David Becker, I 

am the Chief Scicnti fie Ofncer at Pathway 0<.:nol11ic5, a San Diego based genetic testing 

company. 

Pathway Genomics utilizes advanced genctic testing technology and validated genetic 

information to give individuals and physicians the best av~li!abk information ;lboUl their 

genetics, all()wing them to makc inio1111Cli health decisions. It should be nl.lted that 

although 1'11lh\\,;I)' pHlvidcd genetic tests directly to Ct)nSUll1ers like lllallY of OUl" 

competitors, we \olulllarily suspended thm practice as we work with the U.S. Food ami 

Drtlg Administration (FDA) to ensure that our tcsts arc offered in a manner con,;is\cnt 

with regulatory requirl~lllents. 

l'atl1\vay operates its uwn on-sitc laboratory thar is ecrti fied by the U.S. Centers for 

Medicare and Medicaid Services (eMS) ullder the Clinical LaboratOlY Improvement Act 

(eLlA) and licell.'cd by the state of California. The company employs 70 geneticists, 

scientists, bioinfol'maticisls, physicians, and genetic counselors, as well as software 

engincers. cListomer support representati\·es. and others to ensur<.: that we off;;r our 

cListomers accurate inl\mnatioll that is properly understood. 

Benefits or Genetic Testing 

Since the completion orthe Human (iel1ome Project in 2003, scientists. physicians. 

policy makers and consumers have eagerly anticipated the era oC"Pcrsonalizcd 

Medicine," which means providing targeted preventive care and thcnljJ<:utic treatment 

based on an individu,ll's genl:tic makeup. 

Today, billions ut' dolhlrs in research are being dedicated il:l building on our currenl 

knowledge orthe human genome. Almost daily. new and exciting disccl\c'l'ies ahuut the 

rdationships between genetics mld our health arc transforming tracii[ionalmedi::irll:. 

Empowering conSllmers with infol111ation about their genes holds tremendous promise to 

promote health and improve lives. "Ve at Pathway can attest to the positive value lklt 

genetic infixll1ation has provided to the lives of ollr eustOll1ers. Mon:o\l'r. Dr. Francis 
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Collins, MD, PhD, the current Director of the National Institutes of Health (NIH), eited 

several instances in his book The Lunguage o/Lile where individuab have leamed Ih)111 

genetic reports and proactively made changes to prevent or manage disease. ;\s a 

pbysician, Dr. Collins knew he needed to incorporate a healthy diet and regular exercise 

in his life, amI his genetic testing finally motivated him to make these changes. 

Some have argued that consumers should not be provided with information abollllh..:ir 

genes, based on a fear that the information would not be uscd appropriately, or that 

genetic testing might create unnecessary anxiety amongst patients who feel that they are 

destined to get certain diseases based on their genes. However, we believe that 

eonslimers are capable of understanding both the benet]!s of having information about 

their genes, as well as thc t:1ct that genetics are only one piece of the puzzle ofliving ~t 

healthy life. 

Moreover, in 2009, Boston University School ofMcdicinc'$ Risk E"alllution and 

Education for Alzheimer's disease (REVEAL) study found that asymptomatic tirstdegree relatives of Alzheimer's patients who received genetic tcsting results regarding a 

possible propensity for Alzheimer's disease (presence oran APOE f;4 allele) did not have 

a change in the levels of anxiety, depression or overall general distress. While this study 

certainly highlights the need for responsible delivery orlhi, inflm11ation, it also indicates 

that patients arc able to process genctic intonmnion effectively and use it to make better 

health decisions, even with respect to diseases like Alzh"imer's. 

Companies like Pathway nrc aHowing individuals and their physi"ians to accurately 

determine their personal genetic makeup. As new genetic tindings are made and 

validated, Pathway updates individuals about these discoveries and in consultation with 

their physician, individuals can usc this infi.JIlllation to improve the quality of their health 

care, 

Pathway Gcnomics' Testing Services 

Pathway currently orrcrs three different health-related reports, as well as a genetic 

ancestry report. The three health related reports are: 

• Health Conditions - This report provides a clistomer with an assessmentllf their 

genetic risk for as many as 25 different health conditions. The number of 

conditions will vary by the reported ethnicity of the individual, as a result of tiw 

quantity and quality of genetic research available. 

• Pre-Pregnancy Planning (Carrier Status) This report indicates the presence of 

genetic markers assoeiatd with 37 recessive genetic diseases. This information 

can be used to detect conditions that arc unlikely to affect the tested individual, 

but can be passed to their children. 

• Drug Response .- This report suggests the likely rcspolls" to as many as I () 

diffcrent medications. This information may facilitate optimal medication 

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decisions, avoiding drugs that may be harmful or dangerous or 

e;;tablishing proper dosing. 

1Il 

Similar to our competitors, genetic risk is determined by applying (he odds rati,)s 

associated with an individual's genetic markers against a population average to caicuiate 

a genetically adjusted risk of disease. !lllweveL C!, Dr. Francis Collins highlights in his 

book. quanti lying the risk of contracting specific diseases may not in<:orporalc uther 

iilctors likc i~lmily history. litestyle and cilviron111cIll that for some discasl?s can be illore 

significant iilctors than genetics. In consideration of these concerns. we \valll to highlight 

some significant differences in the way that Pathway reports risk informatioll. Atkr 

extensive internal discussions among our scientific and medical staff, we felt thar a 

specific percentage based calculation implies a degree of pre cisi 011 that is nor justified by 

the current state of g<.::nctic information. Therefore. we instead elected to categorize the 

genetic results into categories meant to motivate positive health behaviors appropriate to 

ClJrn::nt genetic knolVkdge. From Imwst to highest k\'cl of' gCI1l'tic risk. these cC]tc!p'ries 

an:: named. "Mainwill a I kalthy LilC,;tyk." "Leam ~lore," "Be Pr(lJcti\e." and "'/';1ke 

Action." 

Further. every customer is encouraged to fill our a health survey that colkch reicvant 

data on lii'c,tyk. environillent. and tinnily history. and we use that to calculate a likst)'lc 

risk score lIsing a similar categorization system. This allows us to inCorll1 an overwcight 

cllstomer who smokes a pack of cigan:ttcs a day that, even if they do not h"vc genetic 

risks i()r lung cancer and hypertension, they may be at significant risk based on their 

likstyJc. We teel that this approach provides a more comprehcnsiv<.:: assessment and 

IT1Gkes it easicr for oLir customers to understand how to properly usc the information 

provided to improvc their health. 

PhYsician Oversight and Genetic Coullseling Services 

In addition to providing understandable genetic reports. Pathway felt that it was 

important to provi(k consumers with access to proli::ssionals trained in genetics to ensure 

that ollr ClIslO1TICrS and their physicians understand what their genetic reports say, and 

a~ importantly thc lil1lit~ilions o/'gcnetic init)}'lnatiol1. 

;\11 of Pathway's physicians and genetic cOllnsl:/ors arc Board-cerlifit:d or Board-eligible: 

with the ;\lllt:rican Board of Genetic Counsding [lnd have significant training and 

nper!isc supporting pmients with understanding of genetic information. Our genetic 

counselors :lI1d physicians arc available for guidance and SUPPNt both bci'ore any services 

3re ordered and post-testing at no additional charge to the customer. 

These qualified expert') review all health rc::port results prior to deli\'ery. 100kJllg for 

indicatiOns that warrant a separate communication encouraging the customer lu spc:lk 

with one or our genetic cOllnselors or physicians. Performed at no additional charge, 

these persol1iil consultations c.'{plain the rc,uits and appropriate next steps, including. as 

approprialC, ('(l!lslilting with their physician. 

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l~xisting Regulation 

Laboratories are already under significant regulatory oversight. This regulation includes 

CLlA, Slate regulations, and, in some cases, regulation by the FDA. Additionally, there 

arc voluntary certifications like College of American Pathology (CAP). which cC'rtify 

laboratories with high standards of validation. profkiency, and quality assurance. 

Pathway Genomies operates its own on-site, CLlA-eertified and Calitbrnia state-licensed 

laboratory. and is pursuing CAP Certification. These programs require us to follow very 

specific ruks to ensure the quality and accuracy of our serviccs, and affect not just our 

laboratory operations, but also al! of our business functions. 

Pathway also understands the critical importance of data privacy and data security. 

Consumers who have entrustd liS with their personal inforl11atiLlJ1 can be assured th,l! 

Pathway utilizes administrative. technical. and physical controls to secure their genetic 

inlormatioll. One clement of these controls is our maintenance oCa closed, secure system 

-- all of our testing takes place in-house in ollr OWIl Oil-site laboratory mitigating many 

potential privacy and security risks. Pathway has a Chief Privacy Officer who 

administers the company's comprehensive privacy policy and security program. Eaeh 

consumer receives a consent agrecment as well as a user-friendly shortened summary of 

the privacy policy in addition to the full privacy policy. 

Regulatory Changes 

Pathway feels that bona tide genetic testing companies such as ours would benefit from a 

stable regulatory environment. Earlier this week, FDA held a public meeting to allow 

industl)' experts and laboratory providers, including Pathway. to discllss ways that FDA 

might regulate laboratory developed tests to enstII'e that high standards of accuracy and 

quality arc maintained, while not creating an undue burden on innovation and advancing 

medical care. 

While FDA's eflbrts to clarifY the regulatOl)' requircments for laboratory developed 

testing arc still in progress, here are some areas that we believe could use additional 

guidance or clarification: 

• Risk-based classitication system tbr genetic tests 

• Minimum scientific study criteria 

• Standardized definitions for population risk 

• List of tile strongest effect marker for each condition 

• Standardized labeling and website disclosures 

• Genetic test registl)' with required diselosun:s 

• Mandatory ellA and CAP certifications 

• Publicized and standardized compliance procedures. regarding incident 

management and reporting, euslomer complaint;,. etc. 

-5-
156 


tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 166 here 78125A.114

While it is critical to en,lIre public safely. it is also important that new reglilati,)!1s do 11<)1 

stine innovation or restrict an individual's access to information that impacts their I 1l::1Ith. 

With n stable and supportive regulatOlY structure, the field of genetics can lIot just 

improve the delivery oChcalth care, but bccomc a driver of high paying green jobs, 

investment, and advanced education. Failure to do so will cede America's kadership 

position in this emerging ficld of scicnce to other cOllntrics. 

Conclusion 

Pathway is cOllllllitk'd 10 improving the he:ilth and well-being of Ollr cllstome['s. We ,Ire 

also committed to ensuring that everything we do is based on rigorolls seientiiic 

standards and complies with all applicabk laws and rcgulations, Genctic testing hold:; 

great promise to help people live more healthy and productive liYCs. Allowing 

consumers. in consultation with health care professionals. to access their genetic 

illl~mllation empowel's healthy and proactive choice,. We arc c:xcited abollt the future or 

genetic tesling, and look forward to working with FDA to ensure that the services we 

niTer arc oCthe highest quality and valuc to the /\ll1crican public. 

Palhway (icIl()ll1ics appr,:ciatcs the opportunity to testily at tllis hearing, and apprcci~ilcs 

the Cnmmiltee's com,iticmtiol1 of this important isslie. 

-6-
157 

Mr. STUPAK. Thank you. And thanks for your testimony. 

I will start questions. 

Ms. Gould, Dr. Vanier, and Dr. Becker, to get a sample on each 

of you, you would spit in a little vial and the customer would send 

it back to you, correct? None of you use the cotton swab? 

Mr. BECKER. That’s correct. 

Mr. STUPAK. OK. 

Let me put up on the board, then, GAO’s report. You know, Dr. 

Evans said that he thought it was entertainment versus medicine. 

You all are telling us that your sampling is accurate, that you use 

markers, you assure quality. 

Then why, on Mr. Kutz—he is the 48-year-old male here. And I 

believe Company No. 1 is 23andMe, Company No. 3 is Pathway, 

Company No. 4 is Navigenics. 

So if you just take prostate cancer, if you’re all accurate and 

you’re all using markers and you take the same kind of saliva as 

your source, why would we have three different results for prostate 

cancer for Mr. Kutz? 

Or even if you go to high blood pressure, Navigenics didn’t test 

it, but we got different results. Go to diabetes, with the companies, 

you got different results if you tested for it. 

So how do you explain that? Same person. You all say you have 

quality assurance. You all make sure the markers, and you do all 

this testing. Why do we have three different results with three different companies? 

Ms. Gould, do you want to start with you? 

Ms. GOULD. Sure. Thank you. 

So we did ask for the GAO testimony in advance and didn’t receive it. So it would be difficult to respond with specificity to these 

particular conditions, although we are happy to follow up to do 

that. 

And I want to stress that we feel extremely confident in the analytical validity of the tests that we have, and—— 

Mr. STUPAK. But then why wouldn’t you all have the same result? If you’re all so analytical, you’re all so accurate, you’re all so 

using the markers—— 

Ms. GOULD. Right. So, for risk predictions, which is a subset of 

the things that the companies test for, we use a predictive model. 

And the predictive model among the companies is different based 

on the standards within the company, which is why we agree 

standards are necessary across the company. 

So we are relatively conservative in the standards that we have. 

We require for these an initial study that has 700—— 

Mr. STUPAK. So you’re saying you’re all using different standards? 

Ms. GOULD. So, there are different standards for inclusions of 

which SNPs are looked at and what weight is given to them. And 

there are differences among which variants can be tested among 

the technologies that are used by the different companies. 

So we agree that it is not acceptable to get the different results 

and that we need standards. We have written a letter to the head 

of NIH and FDA requesting their help. We have worked with our 

colleagues and will continue to do that to set these standards. 


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Mr. STUPAK. OK. So what you are saying, then, is you don’t have 

standards yet to accurately inform a customer whether or not they 

have prostate cancer, high blood pressure, or diabetes. There’s no 

standards yet, so we don’t know. 

Ms. GOULD. So, 23andMe has standards, and the other companies have different standards. There’s not a—— 

Mr. STUPAK. So as long as you all have different standards, the 

customer can’t rely—he could get different results from every company, then. So there is no reliability then, accuracy. 

Ms. GOULD. We believe there is accuracy. We agree there need 

to be uniform standards. I think it’s important—— 

Mr. STUPAK. So the accuracy really depends on whose standards 

you’re talking about. 

Ms. GOULD. I don’t think the accuracy depends on the standards. 

I think it is important to note these are risk predictions; these are 

not diagnoses. 

Mr. STUPAK. OK. Well, even call it risk predictions, call it whatever you want to call it. We get three different results from the 

same saliva, from the same person, and you all claim you got accurate results. How are we to believe any of you can accurately do 

it? 

And Dr. Evans is right, it is entertainment, not medicine. 

Ms. GOULD. Again, I agree that we need uniform standards, and 

we are interested in working on that. We agree this is a—— 

Mr. STUPAK. So consumers should not trust any of these results 

until we have uniform standards put forth by NIH and the FDA. 

Ms. GOULD. We provide a lot of context on our Web site. We are 

fully transparent about exactly what we are looking at in these. We 

do believe that our customers understand what they are getting 

when they see our reports. 

Mr. STUPAK. Sure. 

Ms. GOULD. We also discuss the interplay between genes and environment, that this is a risk prediction. And we do believe that 

customers can rely on the data. 

Mr. STUPAK. For entertainment purposes only, not for medical 

reasons. 

Ms. GOULD. Our service is for information and educational use. 

We continually remind customers that, if they have questions 

about these health reports, they should seek their health care professional or a genetic counselor. And we make genetic counseling 

available through an independent third party. 

Mr. STUPAK. But Dr. Shuren and Dr. Evans testified that even 

the results we’ve seen tells a person nothing. 

Ms. GOULD. Excuse me? 

Mr. STUPAK. That the results medically are useless to them. Dr. 

Shuren testified to that, and Dr. Evans testified to that, too. 

Ms. GOULD. Well, Francis Collins, in his book, ‘‘The Language of 

Life,’’ when he was discussing his Type 2 diabetes results, he found 

that information compelling. And based on that information, he 

lost, I think, 20 pounds. 

So we have other examples in our written testimony—— 

Mr. STUPAK. Well, I’m not a doctor, but I know if I’m overweight 

I have a chance of diabetes going up. I mean, I know that. I could 

even write a book about it and say that, you know? 


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Ms. GOULD. Right. It gave him the impetus to do something 

about it, which is exactly what Dr. Vanier was talking about. 

So, we also have another example in our written testimony. We 

do believe and have stories of customers who have received information, taken it to their physicians, and had improved health outcomes. And—— 

Mr. STUPAK. I guess—if we can put that chart back up. I 

wouldn’t believe anything until all those results were the same. If 

we got three good companies, all doing this testing, the same type 

of saliva, from the same person, your results should be the same. 

Until you can do that—and you’re right, we need standards. And, 

hopefully, from this hearing, we will move along with that. 

And my time is up, so let me go to Mr. Burgess for questions. 

Mr. BURGESS. Thank you, Mr. Chairman. 

And, actually, as a full-service member of this committee, I’m 

going to answer your question that you asked of the panel. And, 

actually, I’m not going to answer it; Dr. Collins is. 

And you referenced, Ms. Gould, his book, ‘‘The Language of Life.’’ 

And he describes the discrepancy that has been put to us on the 

prostate cancer. He said, when he got his results—his father had 

actually had the disease. 23andMe results arrived. ‘‘I was relieved 

to see a prediction of lower-than-average risk. But deCODE disagreed, saying my risk was slightly elevated. Navigenics upped the 

ante substantially, placing me at 40 percent higher than the average male.’’ 

His question, ‘‘What on earth is going here? To sort this out, I 

had to drill down into the details of the lab studies.’’ And here is 

the explanation. 23andMe tested for five variants known to confer 

prostate cancer; deCODE tested for 13; Navigenics had tested for 

nine. There was considerable overlap between the DNA markers 

tested, but no company had actually tested for the complete set of 

16. 

So I guess my question, then, to our three panelists—and at least 

two of the three of you, I heard, use CLIA-certified labs to get your 

results, and that is good. So the results of each of those SNPs was 

accurate. But it is an evolving science as to which ones you include 

in the panel and how you make predictions based upon that. 

How do you handle new information as it comes forward? Once 

you decide, Ms. Gould, on that five that you’re going to use for 

prostate cancer risk, does that never change? Or, as new information comes forward, you’ve still got the DNA in the database, so 

you could go back and look at any of the other 16 and make a determination if you decide that a different set needs to be used. 

And if there were scientific consensus—and here is where the 

FDA could help—if there was standardization, then perhaps there 

wouldn’t be this discrepancy we see on the slide. 

So, my time is limited, but would each of you briefly comment 

on that? 

Ms. GOULD. Yes. So we do regularly update our reports, at no 

charge to our customers. And we include new studies as they meet 

our inclusion criteria set forth in our white papers, which are on 

our Web site. So the answer is, yes, we absolutely update. 

Dr. VANIER. We do the same. 


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I would also mention, as to standards, first of all, I think that 

Dr. Shuren’s articulation of a way going forward for standards is 

going to be an excellent one for our industry. In the interim, however, I would point out that there are branches of government that 

has put forth standards, such as the CDC with their Venice criteria. And that is specifically a set of criteria that we have used. 

But, indeed, it is an evolving science. And as new standards meet 

that criteria, they are added to our panels. 

Mr. BECKER. We also have a trained staff of geneticists, of physicians, and Ph.D. Scientists that review and help to update our 

service on a regular basis. 

Mr. BURGESS. Dr. Vanier, one of the clips that they played for 

us was a woman who was given advice that you probably, pretty 

certainly, might definitely have an increased risk. I mean, that was 

a terrible clip. And, again, as I said, that sounded like a telemarketer giving genetic counseling. 

Have you done anything to tighten up those standards within 

your company? Because, of all the things we heard this morning, 

that was probably the most startling. 

Dr. VANIER. So, there are two clips. And so, first of all—actually, 

let me begin by saying that, regardless of which company are the 

sources for any of those audio clips, it is obviously extraordinarily 

disappointing, both as a physician and as a company that is helping lead this industry. 

And until the GAO can tell us which clips belong to which company—that would certainly be helpful. I suspect the clip of the 

woman asking for her fiance as a gift, because it references ancestry, is not our company because we do not do that sort of testing. 

Mr. BURGESS. Right. I think your company was identified as the 

one that gave the breast cancer advice. 

And all I would ask is that you’ve got to tighten that up. I mean, 

regardless of what we do, regardless of what legislation, regardless 

of what regulations the FDA puts out, that is unacceptable and 

truly frightening, that someone with no medical background, with 

just having been given some talking points on how to respond to 

a question, would be answering a question of that importance. 

I mean, that is a 30-minute discussion between a patient or a 

primary care doctor. I mean, I know that, because I have had those 

discussions. That is not something you can answer over the telephone. And that conversation in no way provided that patient any 

real insight and, in fact, probably provided a great deal of worry. 

Dr. Evans, let me just ask you a couple of things. Now, you 

talked about the entertainment value of medicine. We shouldn’t 

discount that. I’m an OB/GYN doctor by profession. And, certainly, 

the boutique sonogram, Baby’s First Picture, that was available in 

lots of malls during the years that I was practicing, I would all the 

time be asked to comment on the pictures that were made on some 

substandard machine at a shopping mall. 

So it is probably no surprise that there is an entertainment value 

for this—— 

Mr. WAXMAN. Mr. Chairman? We have votes on the floor. If there 

is a chance for some of us to ask questions—the gentleman’s time 

has expired. He is still in the middle of his question. 


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I wonder if you would allow me to have a couple of minutes, because I’m not going to be able to return to be able to ask questions 

of this panel. His time has expired. 

Mr. BURGESS. Very well. 

Mr. STUPAK. All right. We’ll go a second round. 

Chairman Waxman, for questions. 

Mr. WAXMAN. Thank you. That will give him a chance to go further. And I want to get a chance to ask some questions. 

If we are going to have these consumer tests, there ought to be 

some standards. Ms. Gould, you said there ought to be some standards. 

Dr. Vanier, Dr. Becker, do you agree there ought to be some 

standards? 

Dr. VANIER. Clearly, Chairman Waxman. 

Mr. WAXMAN. OK. So we heard from the first panel that the FDA 

ought to regulate this, because they handle medical devices. Do the 

three of you think that you ought to be regulated as medical devices? 

Ms. Gould? 

Ms. GOULD. We have not agreed in the past with FDA’s characterization of our service as a medical device. We are meeting with 

them tomorrow and look forward to hearing more about why they 

believe that. That—— 

Mr. WAXMAN. Well, who should set the standards if it’s not FDA? 

Ms. GOULD. That said, I think FDA should be involved in the 

standards. I was pleased to note Dr. Shuren talking about a new 

framework for genetic testing, and we think that that is really 

needed. 

NIH has also put out comments for a registry. We have provided 

comments for that. We think that is a great thing, as well. 

Mr. WAXMAN. Uh-huh. 

Dr. Vanier, a quick answer to that? Do you think you ought to 

be a medical device regulated by the FDA? 

Dr. VANIER. I would agree, the insight that I have into this, as 

I was invited to speak at the FDA’s panel regarding all laboratorydeveloped tests early this week, and I think the consensus you 

heard from the hundreds of companies that attended was the FDA 

clearly has a role to regulate the quality of the science and the 

quality of the markers that were used on our panel. 

Mr. WAXMAN. And, Dr. Becker, do you agree with that? 

Mr. BECKER. I do agree with my colleagues. And I think Pathway 

is committed to working with FDA to help develop appropriate 

standards that are prudent in this area but do not completely stifle 

innovation, as well as affect overall laboratory-developed tests. 

Mr. WAXMAN. How would it stifle innovation? If you have to live 

up to certain standards and if you’re going to give people predictions about their health, upon which they are going to act, how 

would that stifle innovation, to ask—— 

Mr. BECKER. I don’t believe that that will stifle innovation. But 

the current structure of FDA regulation, if applied the way it is 

today, could completely not only—if it is applied to all laboratorydeveloped tests, could significantly affect the testing industry, not 

just genetic testing. 


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Mr. WAXMAN. Dr. Evans, you’re a physician. If a patient came to 

you with the result of one of these tests that said they had a 13 

percent risk or a 20 percent risk or a greater risk, something like 

that, either quantified or not, of breast cancer, how would you respond to that patient who is alarmed and wants to know what it 

means? 

Dr. EVANS. Right. I would tell them several things. First of all, 

I would tell them that, as evidenced by that elegant experiment 

that the GAO did, we have no idea, and neither does anybody in 

those companies, really how to interpret and analyze those risks. 

We simply don’t know. And that is obviously quite clear. 

Secondly, I would tell them that the magnitude of the increased 

or decreased risk really doesn’t matter for them. All right? What 

they need to do, as Representative Stupak said, for general health 

promotion is to do the things we have already known for a long 

time are important in health promotion. 

Thirdly, I would tell you that, when it comes to parsing risks, 

even if we could do that—there are many claims made about prevention and the power of prevention. But, number one, there isn’t 

a bit of evidence that genetic data is magical in its ability to get 

people to change their behavior. 

And, number two, even if it were—so let me grant for a second 

this fantasy that genetic information is going to induce people to 

change their behavior. If that is the case, we have a bigger problem. Because, for every person I identify who is at increased risk 

for a given malady, I will mathematically certainly identify another 

individual who is at a decreased risk. If this information is so powerful in changing behavior, then I have set the stage for counterproductive behavior in those people. 

Mr. WAXMAN. Now, what would be more valuable to you as a 

physician and your patient, family history or this assessment 

that—— 

Dr. EVANS. Oh, we actually have tremendous data on that. One 

can take all of the risk factors that we know about for diabetes, 

heart disease, breast cancer, what have you, they add nothing to 

our ability to predict risk if one simply puts a patient on a scale, 

asks them a few questions about their family history. 

Maybe someday we will get to the point where we can do that, 

but we are nowhere near that point now. And there is tons of data 

to support my statement. 

Mr. WAXMAN. Mr. Chairman, if the companies are selling a product that promises to improve health, then its scientific validity 

should be established. I don’t think we ought to leave it to them 

to decide that question, because they have a financial interest to 

decide it in their way. 

Government has to have some standards and enforce them. We 

do this all the time. FDA seems the appropriate place. The question is whether it should be the rigid formulation of a medical device or something else. But we need standards, and we need them 

enforced. 

Thank you. 

Mr. STUPAK. Thank you, Mr. Chairman. 

We have two votes on the floor. We are going to stand in recess 

for 20 minutes. We will come back with this panel in 20 minutes. 


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We are in recess. 

[Recess.] 

Mr. STUPAK. The hearing will come back to order. 

I’d remind the witnesses that they’re under oath. 

When we left off, I think Chairman Waxman had finished. So it 

would be to Mr. Gingrey for questions, please. 

Mr. GINGREY. Mr. Chairman, thank you. 

I’m going to start by asking a few questions of Dr. Evans. 

Dr. Evans, in your testimony, you state how important it is that 

the information patients receive be of high quality. From what you 

have seen and heard today from the previous panel and from your 

co-witnesses on this panel, do you have confidence that patients 

are, indeed, receiving high-quality information from these companies? 

Dr. EVANS. I think there’s two parts to that answer. 

With regard to what physicians call analytic validity—that is, if 

they tell you that you have an A, one of the DNA building blocks, 

at disposition, I believe it. OK? Absolutely, they do quality work 

from an analytic standpoint. 

However, with regard to quality related to what we call clinical 

validity—that is, what does this tell you about your risk of this disease—I would say, absolutely not. And the GAO experiment shows 

that in a beautiful way. No one knows how to interpret these data. 

And that is quite clear. 

So, quality information, to be of quality, must be meaningful. It 

is not meaningful. And, therefore, I would say, no, this isn’t quality 

information. 

Mr. GINGREY. So, measuring one’s blood pressure and finding 

that it is elevated, or measuring one’s cholesterol and finding that 

it is elevated, or measuring one’s blood sugar and finding that it 

is elevated, these are not comparable, then, to this information that 

you would get in regard to this genetic testing? 

Dr. EVANS. That is absolutely correct. Because there are two reasons. One is that I can go to three different doctors, and if these 

doctors are doing their job right, my blood pressure is going to be 

reflected the same at each place. My cholesterol should be essentially the same, you know, give or take some degree of variation. 

But as we have seen here—— 

Mr. GINGREY. Yes, from the slide that Chairman Stupak presented in the first panel—— 

Dr. EVANS. Yes, so this is not comparable information. 

Mr. GINGREY. Well, you know, it reminds me of—and thank you 

for that response. There are scans that companies do to detect the 

amount of calcium in one’s blood vessels, whether it is the aorta 

or the coronary arteries, whatever. I mean, you just get a report 

back. And if it is a lot, I guess you’d say it is 3-plus. 

And I have a brother who’s a year and a half older than me. He 

doesn’t like to admit that. But he had one of these tests done, and 

it said, oh, yes, you’ve got a lot of calcium, and you’d better go see 

your cardiologist. Well, it took him 2 months to get an appointment. It is a wonder he didn’t have a heart attack in that time 

from anxiety. 

But he ended up seeing—but, finally, he ended up on the operating table for a coronary angiogram, which showed that, you 


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know, he didn’t have as much as 60 percent blockage in any vessel. 

And it was just a curiosity, really. And he ended up probably 

spending about $10,000 in the process. And, of course, the coronary 

angiogram is not without risk. He could’ve had a heart attack on 

the table. 

Dr. EVANS. That’s right. 

Mr. GINGREY. So, I mean, this is the kind of thing that, as a 

former physician—well, I’m still a physician. I’ve got an active license, thank goodness. But I am concerned, I am concerned about 

this. 

Dr. EVANS. Well, yes, Dr. Gingrey, your comparison is absolutely 

apt. The advent of this type of testing is, I think, entirely comparable to these scans which we simply don’t know how to interpret and which, when misinterpreted and not understood in context, can lead to harm. 

Mr. GINGREY. Well, you even, in your testimony, Dr. Evans, suggested that it is kind of an entertainment thing. It is sort of like 

Dr. Burgess, earlier in his questioning, was talking about these 

ultrasounds that are done in the shopping malls, and they’re—I 

don’t know—they’re more than 3–D, they’re 4–D. And they’re for 

entertainment purposes. 

Dr. EVANS. Sure. 

Mr. GINGREY. I want to switch quickly in my remaining time, 

Mr. Chairman, to ask maybe the triumvirate of Ms. Gould and Dr. 

Vanier and Dr. Becker, do you agree that what you are providing 

to these patients, if you will, or direct-to-the-consumer information 

about their genome is more for entertainment than it is for a real 

therapeutic, possibly, and diagnostic value? 

Dr. VANIER. Dr. Gingrey, I would like to respond to that. 

First, I appreciate and think it is very important that Dr. Evans 

is on this panel. But I want to make it clear that there is no uniformity in the academic medical world around issues like this. 

There is indeed, for instance, research that shows that behavior 

does change. 

Second, I think your analogies to high cholesterol and hypertension are apt, because the genetic risk information that is imparted is relatively of the same predictive value of hypertension 

and high cholesterol. And just as we know many people who may 

drop dead at the age of 90 despite having high blood pressure and 

we know people that, you know, have many risk factors and continue to live on and on, these are probabilistic; they are not 

predeterministic. And so the information that genetics is uncovering is analogous to the risk factors that you used in your practice 

and I use in my practice today. 

There are often analogies made to the body scan industry, for instance. And we don’t believe they’re apt, as long as you have a 

health care professional to support and interpret the information. 

Most of the body scan industry came out of the fact that you had 

vulnerable consumers that were getting these CAT scans and then 

the information was handed over to the physicians and they didn’t 

know what to do with them. 

There is clearly an educational gap in the physician base. More 

physicians need to be educated about genetics. But the ones that 

are—for instance, we work with a couple hundred physicians—very 


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much know what to do with the information because it is akin to 

the risk information they’ve been using for all of their practice. 

Mr. GINGREY. Dr. Vanier, I’m going to have to let your response 

be suffice for the other two, because I am 2 minutes over, or a 

minute and a half. 

And I will yield back. 

Mr. STUPAK. Thank you, Mr. Gingrey. 

I know there’s more questions. I know Mr. Burgess has some. 

Let’s go another round here. 

Dr. Evans, could you grab that book right there? I’ve got a couple 

of questions I want to ask you. 

Could someone hand it to him? Thank you. 

You know, we’ve talked a lot about direct-to-consumer testing 

companies that offer a variety of products for their clients. One 

type of test looks at how a person reacts to and breaks down certain prescription medications. This obviously can be very useful 

when a person is diagnosed with an illness and the physician is developing a treatment plan. 

But I want to ask you to take a look at Exhibit No. 6 there. 

When it is done with direct-to-consumer testing, in that world, it 

really raises some questions. Because if you look at Exhibit No. 6, 

this is an internal Navigenics document that shows a consumer’s 

test result for the processing of a drug. I need your help there. 

Dr. EVANS. Irinotecan. 

Mr. STUPAK. OK. Irinotecan. That drug is commonly used for 

treating colorectal and other cancers. 

The document shows us that this consumer has a low risk of the 

side effects for this drug. The document then goes on to say that, 

if he or she is being treated for cancer, then their medical team 

may want to prescribe irinotecan. 

Dr. Evans, in your opinion as a physician, do you think this document provides medical advice? 

Dr. EVANS. Well, clearly. Yes, it is providing advice, in my opinion. 

Mr. STUPAK. Good. 

Dr. Vanier, this is your company, right? 

Dr. VANIER. Correct. 

Mr. STUPAK. So are you giving medical advice for this patient 

here? 

Dr. VANIER. In fact, the statement you read suggests that the patient should do anything in consultation with their physician. In no 

case do we recommend that anyone take independent action. This 

is specifically why we have genetic counseling support and why we 

primarily work through physicians. 

Mr. STUPAK. Right, but isn’t your document—if you take a look 

at it, if you want to see it, it says your patient’s risk of side effects—you have a high risk here, it says. I want to make sure I’m 

on the right one here, No. 6. OK, this is the drug. Your side effect 

is low risk. 

And so, are you not giving medical advice? I mean, where does 

it say there, ‘‘Consult your physician’’? 

Dr. VANIER. The statement, Chairman Stupak, if I understand 

what you are reading, is, ‘‘Based on your genetic markers, you’re 

likely to have low risk of side effects.’’ 


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Mr. STUPAK. Right. So, based upon—OK. Go ahead. 

Dr. VANIER. Those sorts of statements are pulled directly from 

the pharmacogenomic literature. And, in fact, the 

pharmacogenomic markers on our panel, in many or most cases, 

come from the FDA list of qualified markers. 

Mr. STUPAK. Sure. And then it says right underneath that where 

you read, it says, ‘‘We determine your risk by analyzing your genetic code.’’ So, by looking at the little vial of spit that they gave 

you, you made the determination that this individual should take 

this drug for cancer, right? It would be good for them if they had 

cancer, right? They should take that? 

Dr. VANIER. We specifically point out that it would be helpful for 

the medical team to know that they are at low risk. And, in fact, 

irinotecan testing, along with, for instance, Plavix testing, is an 

area of great interest for oncologists and cardiologists today because the data is robust. 

Mr. STUPAK. OK, well, let’s go to the next one. Let’s go to Exhibit 

No. 5 in that book there, OK? 

The document is given to physicians whose patients recently had 

genetic testing done by, again, your company. The document notifies the physician that his or her patient is likely to have a high 

risk of side effects of the drug abacavir, a drug commonly used for 

treating HIV infection. The document goes on to inform the physician they may want to tailor the patient’s therapy to reduce the 

chance of abacavir hypersensitivity and lists four treatment options. 

Again, isn’t this giving medical advice? 

Dr. VANIER. No. The bright line that is often drawn here is we 

do not specifically state, because the data does not support it, 

which drug the physician should use, which dosing that they 

should consider, et cetera. 

Mr. STUPAK. Well, then why do you bring up this drug, then, if 

you’re not telling the doctor which drug to use? 

Dr. VANIER. It is information that simply should be taken into 

account. For instance, the FDA has recently put a black label 

warning on Plavix that there are different genetic responders. In 

no case, for instance, for Plavix do we tell the physicians what to 

do. It is simply raising an awareness, just the way the FDA did 

with their labeling. 

Mr. STUPAK. And, Dr. Evans, you think they are giving any medical treatment here? 

Dr. EVANS. Well, it certainly seems to me to be medical advice. 

And I think that this is an example—these two examples are very 

good exemplars of the fact that some of the information contained 

in these scans has robust genetic and medical implications. Therefore, this is, you know, I think by any commonsense interpretation, 

medical advice. 

Mr. STUPAK. Dr. Vanier, do you certify all these letters that go 

out, as the doctor, then, for Navigenics? 

Dr. VANIER. Yes, we have a medical advisory board that looks 

them over. 

Mr. STUPAK. OK. Do you, though? Do you personally? 

Dr. VANIER. Yes. 


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Mr. STUPAK. OK. So if, as Exhibit No. 5 or No. 6 there, Dr. 

Evans, if I came to you as a patient and gave you this, what could 

you take from this information that I brought to you as I received 

this letter from Navigenics? 

Dr. EVANS. Right, I would probably do two things. One is, especially in the case of abacavir, the data are so robust that show that 

if one has a particular version of this HLA gene, that they are 

much more likely to have a serious reaction to abacavir, I would 

take that very seriously. 

I would be very tempted to repeat the test because of all of the 

tests that have been done at the same time. But I have no great 

quibble with the analytical validity. I trust that result. 

My quibble with that particular issue is that it’s medical advice. 

Mr. STUPAK. My time has expired. 

Mr. Burgess for questions. 

Mr. BURGESS. Thank you. 

Dr. Evans, in your written testimony, you—and I think you addressed it in response to a question, the issue of being at increased 

and decreased risk, and if someone is at increased risk, there’s 

someone out there at decreased risk, and the advice might be inappropriate in both instances. 

Now, there was quite a flap created in this committee a little less 

than a year ago, when the United States Preventive Health Task 

Force came with some revised recommendations on mammography, 

that individuals between 40 and 50 no longer need them. Well, it 

turns out they walked back from that. 

And there was also some concern that the health bill, as it was 

being written, would incorporate some of those things, such that 

people covered under specific plans might end up not being covered 

if those guidelines fell outside the U.S. Preventive Health Task 

Force. 

Would it not be worthwhile—if that world was the one that had 

persisted and existed today when the bill was signed into law, 

might this type of testing not be helpful for a woman between 40 

and 50 to assess whether she go out and purchase on her own the 

screening test that might be life-saving? 

Dr. EVANS. Actually, no, for a couple of reasons, Congressman. 

Number one, the degree of risk determination that these types 

of tests generally provide is so lacking in robustness that we really 

don’t know whether a woman should be getting mammograms 

early or not based on these kinds of results. 

It is very different from the situation for, say, BRCA–1 or 2, the 

genes that, as you know, confer an exceedingly high risk of breast 

cancer, in which we’ve got pretty good data to suggest that those 

women need to be treated very, very differently. These results, 

however, aren’t of sufficient robustness to really guide who in the 

population should get mammograms early or not. 

And I would also, again, go back to the GAO experiment, which 

shows that we don’t know how to interpret them. In other words, 

we will be misassigning women right and left, if we try that, that 

to high-risk or low-risk. 

Mr. BURGESS. Well, but the U.S. Preventive Health Task Force 

may have just misassigned everyone in that age bloc. 


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Dr. EVANS. Yes. Unfortunately, the reality is that, in medicine, 

we—although from a wishful-thinking standpoint we might want to 

be able to assign people a very precise risk, the reality is that we 

are not good at it, as the GAO report shows, and that we are asking for trouble, in my opinion, if we start telling a woman, ‘‘You 

don’t need mammograms until X date because of your genetic profile.’’ 

Mr. BURGESS. Well, but that is not the issue. And I would just 

submit—and I’ve got some of the same concerns that everyone else 

up here on the dais has. But I would just submit that, in a world 

that at one point seemed to be rapidly moving to one-size-fits-all, 

government-controlled medicine, I would think the consumer could 

see real value in being able to assess whether they individually 

might need to make a different decision than their government 

would make. In which case, this type of testing, I think, could be 

extremely effective. 

Dr. EVANS. If this type of testing were consistently—if it were 

consistent between labs, and—— 

Mr. BURGESS. Right. And we have a Federal agency who is responsible for that. 

Dr. EVANS [continuing]. And if it were meaningful—— 

Mr. BURGESS. And my hope is that they will now respond and 

provide the background and the guidance that the consumer needs, 

not so much the provider needs. 

Dr. EVANS. Right. The—— 

Mr. BURGESS. Let me just ask Ms. Gould a question before my 

time runs out. 

Now, you reference in your written testimony an individual who 

had an increased likelihood of a deep-vein thrombosis, a blood clot, 

an increased propensity for blood clots, and wasn’t aware of this 

until the testing was done. 

I mean, I will just tell you, as a practicing OB/GYN, nothing 

strikes more fear in your heart that you might do a relatively 

minor procedure on a very young and healthy person and have 

them spend weeks in the hospital recovering from a deep-vein 

thrombosis or, worse yet, die of a pulmonary embolism. And that 

is one of the most frightening things that we can face in medicine. 

You can imagine, from a medical/legal standpoint, it is extremely 

concerning. 

I was intrigued by that story that you included there. We went 

from a world where, early in my career, you just accepted that as 

a risk until, later on, everyone got a low dose of heparin right before surgery because we lived in a medical/legal environment that 

you just couldn’t tolerate the one in 10,000 who would have that 

complication. 

So what has the experience been at 23andMe? Are you guys following this? I mean, that is a compelling story, but an anecdote 

doesn’t a series make. You need at least two anecdotes to make a 

series. Have you been following that? 

Ms. GOULD. Yes. And we do have several customer stories. And 

I think this goes to—you know, there was the word used, ‘‘fantasy,’’ 

before. You know, we strongly disagree with that. Colleen McBride 

at NIH has written that, when people get access to their online genetics, it can be very empowering, and it can be a great opporVerDate Mar 15 2010 04:56 Mar 28, 2013 Jkt 078125 PO 00000 Frm 00174 Fmt 6633 Sfmt 6633 E:\HR\OC\A125.XXX A125

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tunity for a physician to leverage that to help them make better 

lifestyle choices. 

We have had a number of examples where people were getting 

access to this information that they would otherwise really not 

have known, and talked to their physicians and health care providers and have seen better health outcomes. 

Mr. BURGESS. Well, I will just say, from a clinician’s standpoint, 

I mean, you welcome all information that comes from any source, 

especially if it is going to keep you out of that kind of trouble. 

Thank you, Mr. Chairman. 

Mr. STUPAK. Thank you, Mr. Burgess. 

Ms. DeGette for questions. 

Ms. DEGETTE. Thank you, Mr. Chairman. 

Thank you for your comments. Mrs. Christensen and I had to 

run over and vote in the Resources Committee. 

I have a couple of follow-up questions that I wanted to ask. The 

first one is on the privacy issues. And, as you know, we only have 

5 minutes, so if people can be relatively short in their answers, I 

would appreciate it. 

Ms. Gould, does your company believe that we should protect the 

privacy of medical information of the people who undergo this testing? 

Ms. GOULD. Yes, we absolutely believe—— 

Ms. DEGETTE. Thank you. 

Dr. Vanier. You need to answer verbally. 

Dr. VANIER. Oh. Yes. 

Ms. DEGETTE. And, Dr. Becker, do you believe that, as well? 

Mr. BECKER. We absolutely believe in that. 

Ms. DEGETTE. OK. 

Now, for Dr. Vanier and Dr. Becker, I realize you did not see the 

GAO report until this morning. But, in the previous panel, Mr. 

Kutz testified that the two companies that told the young woman 

online that her fiance could send in their medical information to 

surprise him with his genetic background were your two companies. And I would assume from both of you that you have specific 

policies against this practice. 

Correct, Dr. Vanier? 

Mr. BECKER. If you will, Congresswoman—— 

Ms. DEGETTE. Well, I asked Dr. Vanier, and then I will ask you. 

Does your company have a specific policy against this practice? 

Dr. VANIER. We do. And I would—— 

Ms. DEGETTE. Thank you. 

Dr. VANIER [continuing]. Also like to correct the assertion that 

that was our company, because it was involved in ancestry, and we 

do not offer it. 

Ms. DEGETTE. OK. Well, no, I wasn’t referring to that specific 

audio clip. He said—and, again, this is a little unfair to you, I realize, because you haven’t seen the GAO report. But he said the two 

companies that told them that they could send in the fiance’s information were your two companies. 

But if that was the case, that would be against your company 

policies, correct? 

Dr. VANIER. Correct. I would strongly like that information corrected. 


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Ms. DEGETTE. Yes, I bet you would, and we’ll make sure you get 

it. 

Dr. Becker. 

Mr. BECKER. That is correct. That is against our policies. We 

take responsibility for that particular action and feel—that action 

was reported. I’m aware of that. 

Ms. DEGETTE. OK. 

Mr. BECKER. That was reported very quickly after that discussion with the customer service person happened. We took the appropriate—— 

Ms. DEGETTE. So that clip was from your company. 

Mr. BECKER. It was. 

Ms. DEGETTE. And that is against your policy, right? 

Mr. BECKER. That is against our policy. 

Ms. DEGETTE. So this leads to another question, because all 

three of the companies represented here are companies that are 

trying to do important work. And I don’t think anybody—well, 

maybe somebody on this panel, certainly not me—would object to 

this type of information being gathered and given to consumers. 

What we are all concerned about is the same thing you’re concerned about, is that it be done to a high degree of medical certainty and that people’s privacy is ensured and, also, that they get 

adequate medical advice. I think we can all agree with that. 

And so, my question would be, to all three of you, how do you 

think that we could protect confidential patient information if you 

have essentially telemarketing individuals on the phones talking to 

folks about these tests? 

Mr. BECKER. If I will—— 

Ms. DEGETTE. Sure. 

Mr. BECKER [continuing]. Congresswoman, thank you very much 

for the question. 

We did take action to train that person and correct the ability 

of that to happen. So this was a customer service agent. We take 

it very seriously, this particular incident. And we have—we no 

longer will do that. 

Ms. DEGETTE. OK. Well, that’s good. 

Dr. Vanier, do you have anything to add to that? 

Dr. VANIER. I do. I think we can look at the Genetic Information 

Nondiscrimination Act as a first step of an important series of legislation that would include genetic protections for consumers. 

Ms. DEGETTE. But that is already in effect, that act. 

Dr. VANIER. But it speaks to the fact that, obviously, individuals—that health plans and companies should not have access to 

that individual genetic data. I think that is a model on how you 

can begin to understand other legislation that would protect individuals’—— 

Ms. DEGETTE. So you think we might need additional legislation 

because of the narrowness of that act. Is that what you are saying? 

Dr. VANIER. Yes. 

Ms. DEGETTE. OK. 

Ms. Gould, what would your view be on that? 

Ms. GOULD. Well, we have strong both policy and technical safeguards to protect customer information. And we agree that privacy 


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is of utmost concern. We think GINA is a great start and agree 

that likely more will be needed in the future. 

Ms. DEGETTE. Thank you. 

Mr. Stupak, I think everyone else has had two rounds but Dr. 

Christensen. So should we have her question and then I’ll take my 

second round? 

Mr. STUPAK. Sure. 

Ms. DEGETTE. Thank you. 

Mr. STUPAK. Mrs. Christensen for questions. 

Mrs. CHRISTENSEN. Thank you both. 

My question, I guess, would first go to Dr. Becker. And if you 

could turn to Exhibit 11 in the binder. Mr. Kutz testified earlier 

that none of the companies was able to provide a complete genetic 

analysis for the DNA samples they submitted with African American and Asian profiles. And this is apparently due to limitations 

in the ethnic composition of the studies that the companies use to 

predict their customers’ genetic risk. 

Exhibit 11, at the bottom of the page is an internal e-mail dated 

November 12, 2009, that Pathway produced to the committee. And 

this document, one Pathway employee has sent another a proposed 

script for handling customers who self-identify as African American 

or Hispanic and, thus, will receive a more limited genetic analysis. 

According to Pathway’s document, the company first notifies customers of the limited available data when their report is almost 

ready to be sent. And the script for those of African descent indicates that they will only be able to provide limited information, for 

example, for females, just three conditions—Alzheimer’s, Lupus, 

and Type 2 diabetes—and for males, four— Alzheimer’s, lupus, 

Type 2 diabetes, and prostate cancer. 

The script makes clear that the customer had already self-identified as African American. So why doesn’t Pathway tell African 

American customers that the company would not be able to provide 

the full data before they make their payment, you know, not just 

when you’re ready to send the results? 

Mr. BECKER. Actually, Congresswoman, we do now do that activity. As you described, we do inform on our Web site, there is a clear 

matrix of what conditions you will get depending on what reported 

ethnicity you—— 

Mrs. CHRISTENSEN. So you now inform the clients and the customers before they make a payment what the limitations are? 

Mr. BECKER. Yes, we do. And if they came on to our customer 

site without reviewing that information, it is our policy—and 

clicked on and paid, and then were disappointed with what they 

got, it is our policy to actually refund their money and discuss any 

questions or concerns they may have. 

Mrs. CHRISTENSEN. OK. 

Well, in the case of the Hispanic—I think it was a Hispanic—yes, 

the self-identified Hispanic customers, the proposed letter recommends that, quote, ‘‘we set your ethnicity to Caucasian.’’ 

Are the results accurate if you change someone’s ethnicity and 

compare them to data for the wrong population? 

Mr. BECKER. The results that we present are based on the 

ethnicities for—and the findings in the literature for those 

ethnicities. So they are accurate for those ethnicities. And we are 


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informing Hispanics to look at that information in that context, 

that this is information based on Caucasians. 

Mrs. CHRISTENSEN. And you feel that it provides accurate enough 

information despite the fact that they’re based on people of European descent rather than—— 

Mr. BECKER. Well, that is a very interesting question that comes 

down to the actual population mixture of the Hispanics. And the 

current literature suggests that Hispanics are actually divided into 

groups that are derived from Africans and Caucasians. 

Mrs. CHRISTENSEN. Well, you already don’t have much in the 

way of African information. 

But, Ms. Gould, 23andMe produced to the committee an internal 

e-mail, also dated June 23, 2008, concerning a complaint of an 

Asian American customer who was unhappy that her genetic report 

was based on data from a European population. It is Exhibit No. 

3, I think, in the binder. 

Are the results your company provided to this Asian American 

customer as accurate as they would have been if you had data from 

an Asian population? 

Ms. GOULD. So, we provide context in our reports where the underlying study—the populations in which the underlying studies 

were conducted. And we make that clear on our Web site, as well, 

that we can only provide data—and we provide this in the claim 

process before people get their data—that genetic research is not 

comprehensive. 

And one of our core missions is actually to undertake more research. In fact, one of the projects that we are hoping to start is 

to try to replicate or fail to replicate existing studies in African 

American populations. We do think that it is critical that more research be done in order to show the applicability of the existing research in various populations. Unfortunately, most of this research, 

which has been NIH-funded, has primarily been done in European 

populations. This is one of our core missions, is to make—— 

Mrs. CHRISTENSEN. Well, we are very concerned about including 

more racial and ethnic minority populations in clinical trials and 

studies, as well. 

But it seems, unless something has changed since, you know, we 

have this data, you were not, apparently, telling individuals that 

their data would have been limited if they were Asian or if—— 

Ms. GOULD. We do provide that, and we have provided that information previously. 

Mrs. CHRISTENSEN. My time is up. I’ll come back. 

Mr. STUPAK. Thank you. 

Ms. DeGette, you had some follow-up questions? 

Ms. DEGETTE. Thank you. I just have a couple follow-up questions. 

Dr. Becker, you had testified in your statement that you felt that 

FDA approval of these tests as medical devices could stifle innovation. The chairman talked a little bit to Ms. Gould about the idea 

of FDA approval as medical devices. And I’m wondering if you can 

briefly tell me why you think that would be the case. 

Mr. BECKER. Well, I don’t believe that it’s FDA approval per se. 

The current structure of requiring premarket approval could actually inhibit the ability of this information to be accessible to people. 


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Ms. DEGETTE. And why would that be, sir? 

Mr. BECKER. Well, because if pre-approval is required for all of 

these tests, it will take quite some time to collect, potentially, the 

clinical validity as defined today. 

Ms. DEGETTE. So is there some alternate mechanism at the FDA 

that you believe could serve all the purposes we are talking about, 

to give a consistent level of data, to protect patient privacy, and 

also to regulate the kind of information they’re given? Is there 

some alternate process at the FDA? 

Mr. BECKER. Well, we do, and we do support Dr. Shuren’s proposal this morning. But we also—— 

Ms. DEGETTE. I’m sorry, which proposal was that? 

Mr. BECKER. He proposed a way forward. And I don’t remember 

all the details exactly of that. 

Ms. DEGETTE. OK. 

Mr. BECKER. But he proposed a way forward that sounded very 

fair and reasonable, which I think is definitely the FDA’s goal here. 

I don’t want to speak for FDA, but the—well, I’m sorry. I will stop. 

Ms. DEGETTE. Dr. Vanier, I wonder if you could comment on 

whether you think FDA approval as medical devices is the appropriate route to go? 

Dr. VANIER. I think history shows over and over again that the 

correct, deft regulatory touch both protects the public and leaves 

the door open for innovation. Dr. Shuren’s proposal, that it is the 

genetic markers that we use in our tests that need to be standardized and regulated, is something that we would certainly support. 

Ms. DEGETTE. And that is great, and I support that too. The concern that I have, and I think probably many members of this committee would share that concern, that is only one component of 

what the problems that we have are. So how would we address 

those other problems in an alternate way? 

Dr. VANIER. I think another component of the regulatory process, 

as has been discussed before, is the actual collection kit, the kit in 

which you, for instance, submit your saliva. 

Ms. DEGETTE. Right. 

Dr. VANIER. There is a history of that potentially needing to be 

a Class I device. And I think that is also an appropriate area to 

be looked at. 

Ms. DEGETTE. OK. What about the privacy—well, you already 

talked about that. 

Dr. Evans, I’m wondering if you can comment on all of this. 

Dr. EVANS. You bet. 

I think it is absolutely critical to apply a deft hand to regulation. 

Too blunt of regulation could stifle the ability of companies and 

academic laboratories to develop tests. So it is important. 

I think the two things that I find most heartening by the FDA’s 

approach are to take a risk-calibrated approach to testing—that is, 

you subject tests that have higher stakes to more regulation. And 

secondly, as was pointed out in the first panel, that one may be 

able to envision regulatory schemes which look at a subset of markers or a given platform and not have to clear every single test, so 

to speak. 

Ms. DEGETTE. Mr. Chairman, I want to say two things. I think 

I can probably speak for all of us that we are pleased that this 


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panel has recognized that there is a need for improvement in 

standardization in the industry. 

And I would also—it is always the practice of this committee to 

allow panel members to offer questions in writing. I think that is 

particularly important in this case, because all of us just received 

the GAO report this morning. So I would ask unanimous consent 

that we would all have additional days to submit questions in writing to this panel, but also that they would be able to supplement 

their answers in today’s hearing based on the GAO report that they 

have been given. 

Mr. STUPAK. As the gentlelady knows, we always have 10 days 

to put forth additional questions. 

Would you yield on that point? 

Ms. DEGETTE. Yes, I would be happy to. 

Mr. STUPAK. Let me ask our panel this, then, in light of what 

Ms. DeGette said and what we have seen. Our hearing has shown 

that there is a gap between claims made by genetic testing companies and the value of the information actually given to the consumer. And, as Dr. Evans says, it is more entertainment than medicine. 

So let me ask you this, then. Would you agree that until the FDA 

develops standards for testing, uniform standards for how you’re 

going to test, uniform standards for genetic markers, and ensure 

the accuracy of the tests and standards for interpreting the test results, would you agree to stop this direct-to-consumer marketing 

for monetary value until the FDA has this standard set? 

Ms. Gould? 

Ms. GOULD. We don’t think that that is the answer. We, again, 

believe in the accuracy of our tests. We provide—— 

Mr. STUPAK. So you’re still going to continue marketing this test? 

Ms. GOULD. We think that it is appropriate that we continue and 

that people have the right to access their genetic information. 

Mr. STUPAK. For entertainment or for medical reasons? 

Ms. GOULD. We provide our information for informational and 

educational use. 

Mr. STUPAK. OK. 

Dr. Vanier, would—— 

Dr. VANIER. Chairman Stupak, I think it is a great question but 

one put in the context of where we are as an industry. We are at 

the dawn of an era of personalized medicine, as the committee has 

pointed out. And as much early interest as there has been in the 

American public, I think it is important to understand that we are 

all small businesses. I suspect no one on this table flew in on a corporate jet this morning, for instance. And so, stopping any sort of 

offering in the public, typically from a venture capital perspective, 

means that most of the product category goes away for many years. 

In our case specifically, because we distribute mostly through 

physicians and prevention and wellness programs, we would like to 

continue to be able to do so, given the health care support that we 

give. 

Mr. STUPAK. OK. So let me phrase it like this. How much do you 

charge for one of your tests? 

Dr. VANIER. Right now, we are at several hundred dollars. 


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Mr. STUPAK. OK, several hundred. How many of those several 

hundred is for profit? 

Dr. VANIER. The gross margins range—actually, I would put it 

this way: We are a pre-profitable company. We are still venturecapital-funded. We are losing money every year. 

Mr. STUPAK. OK. So would you stop marketing for a profit then? 

Would you stop marketing these tests for a profit? I know the claim 

you don’t make a profit, but how much money do you draw off 

every year for this testing from Navigenics? Because that is part 

of the company’s cost, right? 

Dr. VANIER. Understood. 

Mr. STUPAK. So, I mean, if you’re doing this for public good, why 

would you charge people then? So we can build these databases 

and do genetic testing. But even if we did that, we need uniform 

standards, don’t we? 

Dr. VANIER. I understand. I think most of the innovation in 

health care business shows that you can do well by doing good. And 

I think hopefully that is what we are continuing and would like to 

do. 

Mr. STUPAK. We haven’t seen any good yet. 

How about you, Dr. Becker? Would you stop marketing it until 

we get some uniform standards in testing here so we can interpret 

these results? I mean, the American people are spending a billion 

dollars a year for nothing. 

Mr. BECKER. We think developing standards is absolutely critical. And being involved in that process should require the members at this table. And in order to do that, we should have the ability to have jobs—— 

Mr. STUPAK. Sure. 

Mr. BECKER. —and continue to work hard and help FDA and 

Congress and—— 

Mr. STUPAK. So would you stop marketing it while we’re helping 

FDA and Congress set standards? 

Mr. BECKER. We would prefer not to stop marketing as we are 

today. And we are working, similar as Navigenics, with physicians 

and wellness programs. And so we have physicians involved, we 

have genetic counselors involved. 

We feel that it is important to allow the public access to this information if they want it and present it in a responsible fashion, 

telling what genetics can and can’t do. I think it is very important—— 

Mr. STUPAK. So what do you pay a physician to be involved in 

this? What does your company pay a physician to be involved in 

this? 

Mr. BECKER. Yes, we would. 

Mr. STUPAK. How much do you pay them? 

Mr. BECKER. That is not my area. And I can get back to the committee—— 

Mr. STUPAK. OK, we will follow it up in writing. 

Mr. Burgess? 

Mr. BURGESS. Let me ask you a question. Are all three of the 

companies represented here today based in the United States? 

Ms. GOULD. Yes. 

Dr. VANIER. Yes. 


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Mr. BECKER. Yes, we are. 

Mr. BURGESS. Now, one of the companies that is not here, deCODE, is based in Iceland. Are any of you currently marketing 

your products in Europe, for example, in the European Union? 

Ms. GOULD. We do offer our services in Europe. 

Dr. VANIER. We are mostly in Asia and Canada. 

Mr. BECKER. We currently do not offer our products in Europe. 

Mr. BURGESS. What is the experience with offering in Europe? 

What is the regulatory environment in Europe as relates to these 

products? 

Ms. GOULD. We haven’t heard any specific issues around it. 

Mr. BURGESS. Europe has a similar regulatory agency to the 

Food and Drug Administration. There are obviously some differences. But so far, they have not shown any interest or curiosity 

in what is going on? 

Ms. GOULD. Correct. 

Mr. BURGESS. And the Canadian equivalent of the FDA, Dr. 

Vanier? 

Dr. VANIER. Currently, no. 

Mr. BURGESS. So at this point, the only regulatory efforts that 

you are aware of are coming from the United States? 

Dr. VANIER. No, let me recharacterize my statements. While we 

have little commercial experience, for instance, in Europe, clearly 

genetic testing is an area of regulation in many countries. I know 

England has been taking a look at it, Germany has been taking a 

look at it as well, and there are clearly many personalized medicine 

coalitions and efforts in Canada as well. 

Mr. BURGESS. And can the experiences of those bodies inform the 

activities that we are going to embark upon at the FDA? Is there 

a possibility for learned—or sharing learned experiences? 

Dr. VANIER. I think that is always the case. However, in this specific case, I believe the FDA is showing leadership, compared to 

their counterparts abroad. 

Mr. BURGESS. Well, let me just say that personalized medicine, 

I do believe that is the wave of the future. In fact, that is one of 

those things that concern me so much about this bill that we 

passed and got signed into law 3 months ago, was it moved us 

away from an environment of personalized medicine and moved us 

more into a regimented command and control type of structure. 

So I for one am encouraged by what you are doing. I do want it 

done right. I do want the consumer protected, and I do want the 

information to be believable. 

Yes, the FDA has a role to play, but I would submit that each 

of you and your companies has a role to play as well. And, yes, 

while there are some proprietary and some competitive issues to be 

protected, there is also the greater concept to be protected as well, 

which is allowing consumers to access information, just as we 

would a blood pressure or cholesterol or a blood glucose at a health 

fair that might be at any one of our churches or community centers 

back home. 

So I think, Mr. Chairman, that is probably the extent of what I 

had. I did want to see if we could perhaps recall—— 


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Mr. STUPAK. Yes, Mr. Burgess, we will do that. I owe Mrs. 

Christensen a round of questions, if she would like. We will wrap 

it up with this panel and bring back Mr. Kutz. He is still here. 

Mrs. CHRISTENSEN. Thanks. Let’s continue the same line of questioning I had before. Do all of the companies represented here have 

disclaimers regarding the limited results that would be available 

for people of different races and ethnicities? 

Dr. VANIER. If I actually may correct an assertion made by Dr. 

Kutz, we do not collect any sort of ethnic information from our patients whatsoever, but we do certainly as well help educate them 

about the promises and limitations of the information, given the 

state of the ethnic literature. 

Mrs. CHRISTENSEN. That is prominently displayed somewhere on 

your Web site? 

Dr. VANIER. Yes. 

Mrs. CHRISTENSEN. The answer is yes to the other two? So what 

if someone happens to miss that? I am hoping that it is really 

prominently placed on your Web site. Don’t you think that someone 

should follow up for those? I guess I would be asking Ms. Gould 

and Dr. Becker since you two do ask that question, follow up. 

If a person says they are Hispanic, Asian or African American or 

Native American, do you feel an obligation to go back and check 

and make sure that they understand that the information is going 

to be limited or don’t you think there should be a checkmark or 

something to make sure that they see that they have seen that and 

noted that before they send in their payment? 

Ms. GOULD. I think it is a great idea. It is something that I will 

definitely take back to the team, the concept of sort of a checkmark, do you understand this. We do not do follow-ups, to say do 

you understand, in which cases there have been only European 

studies. 

Our service is also broad. We cover ancestry and other areas that 

are not as dependent upon ethnicity. So we feel like everybody has 

something to learn from our service. We do highlight the fact that 

genetic research is not comprehensive, and we want to be, again, 

part of learning more about that. 

Mrs. CHRISTENSEN. OK. Briefly, if I could get one other question 

in. 

Mr. BECKER. Just a quick answer. We could improve our service 

to follow-up. We also do not do that particular type of follow-up 

that you indicate. 

Mrs. CHRISTENSEN. I was out for a while, so this question may 

have been asked in one way or another, and I am going to ask everyone, starting with Dr. Becker. 

We have heard compelling testimony that the science is not there 

yet to meaningfully interpret the data that these kind of genetic 

tests product regarding risk for diseases, not even good enough to 

be interpreted by health professionals. As a physician, I feel comfortable though that if I took a good history, did a good physical 

and did some routine lab, I would get significant information on 

which I could predict, and useful information on risk for certain 

diseases. 

Why then should someone order these tests, especially somebody 

from a racial and ethnic minority background? Dr. Becker? 


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Mr. BECKER. Certainly there are limitations in the state of 

science that are even higher relative to the other ethnic backgrounds outside of Caucasians, and we support NIH’s effort to ameliorate that problem. 

We think that being overlooked here is the motivational aspect 

of this particular service and the fact that these conditions show 

some increased propensity for cardiovascular disease, clearly Type 

2 diabetes, things that are clearly actionable and affected by diet 

and exercise. 

So although we recognize the fact that these conditions are not 

predictive at this time, and that needs to be responsibly reported 

to the public so that they understand clearly, we spend a lot of 

time developing the extensive amount of information that is provided to the customer about that specific effort. 

Mrs. CHRISTENSEN. Dr. Vanier? 

Dr. VANIER. There are well-known limitations to the physical 

exam. There are well-known limitations to the tools that we use in 

everyday medicine. For example, the National Cancer Institute just 

looked at the limitations of family history for screening for prostate 

cancer and breast cancer. And while indeed you have heard testimony today that the science may be early and evolving, you have 

also heard testimony today about the medical importance, for instance, of things like pharmaco-genomic testing. And I think when 

you hear the totality of the testimony today, an important point to 

make is none of us should be satisfied with the status quo, none 

of us should be satisfied with the state of the American health care 

system, and it is tests like these that open up a future of great use. 

Ms. GOULD. I agree with what Dr. Vanier just said. In addition, 

we believe that people have the right to access their genetic information if they want to do that, and we think it is really important 

and it is a great educational tool to learn about genetics within the 

prism of your own data. And we think that is an important aspect 

to our service as well, as well as getting people in the research we 

are undertaking to advance our understanding of genetics overall. 

Dr. EVANS. So, as my testimony has indicated, I think that the 

value of the bulk of this information is extremely low. I think that 

if one can get less meaningful, it is less meaningful for those of minorities. I think that I also agree that people should have access 

to their own genomes. But, again, I think that the claims made for 

that information should comport with reality, and I think that the 

idea that this adds to motivation or adds to our information is 

clearly demonstrably incorrect at this point. 

Mrs. CHRISTENSEN. Thank you. 

Mr. STUPAK. Thank you, Ms. Christensen. 

Let me thank this panel for their testimony and thank you for 

appearing today to help us understand this problem. We all have 

a lot more work to do in this area. I appreciate your being here. 

I excuse this panel. I am going to ask Mr. Kutz to come back for 

a couple of questions, if he would. Thank you. 

Mr. STUPAK. Mr. Kutz, a couple of questions, if I may. Can we 

put up the slide of the predictions of the 48-year-old male, the one 

we had up earlier, the first question or two, and then Mr. Burgess 

has some questions on some other parts of your testimony and we 

will get to that. 


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There has been some confusion. Identify the companies, company 

one, two, three, four, if you would, please, for us. 

Mr. KUTZ. Company number one is 23andMe; two is Decode, the 

one Dr. Burgess said I should look at actually; three is Pathway; 

and four is Navigenics. 

Mr. STUPAK. OK. Decode, number two, that was the company 

from Iceland, I believe you said? 

Mr. KUTZ. That is correct. 

Mr. STUPAK. That is all I had. You wanted to clarify some parts, 

Mr. Burgess, with this witness? 

Mr. BURGESS. Yes, sir. We had two vignettes, one that dealt with 

the risk factors for breast cancer and one that asked a question 

about obtaining a surprise for their fiance. 

Mr. STUPAK. Can we get those vignettes up? 

Mr. BURGESS. There you go. Can we identify the companies so we 

are clear on that, because there was some confusion here on the 

dais here. 

Mr. KUTZ. Yes, sir. On the breast cancer it is Navigenics. 

Mr. STUPAK. And the other one you wanted was—— 

Mr. BURGESS. The awesome gift. It would be an awesome gift. 

Mr. KUTZ. That is Pathway. 

Mr. STUPAK. Again, we just should identify for the record it is 

the individual who wants to give his fiance the DNA testing results, and that was Pathway. Do you have any further questions 

of this witness? 

Mr. BURGESS. No. 

Mr. STUPAK. No further questions. Thank you, and thank you for 

your clarification. 

OK, that concludes all questioning. I want to thank all of our 

witnesses for coming today and for their testimony. 

The committee rules provide for and as we said during the hearing, members have 10 days to submit additional questions for the 

record. It has also been requested and is unanimous consent that 

any of our witnesses who testified who wish to supplement their 

testimony will have 10 days to do so. 

That concludes our hearing. This meeting of the subcommittee is 

adjourned. 

[Whereupon, at 1:10 p.m., the subcommittee was adjourned.] 

[Material submitted for inclusion in the record follows:] 


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Opening Statement of the Honorable Joe Barton 

Subcommittee on Oversight and Investigations 

Hearing on 

"The Outbreak of Salmonella in Eggs" 

September 22, 2010 

Thank you, Chairman Waxman for convening this important 

hearing. This Committee has held over a dozen hearings on food safety 

over the last four years, and now we have another unfortunate outbreak 

to investigate: over 1,500 reported cases of salmonella illness across 

America traced to bad eggs. 

From past investigations and what we have discovered so far 

during this one, we know that the weaknesses in food production and 

regulations sometime give rise to sudden and at times lethal outbreaks of 

illness, and that these flaws will never go away by themselves. Neither 

government nor industry can shrug these things off. 

I want to say thank and welcome our first panel of witnesses, Mrs. 

Lewis and Mrs. Lobato. Both women were sickened by the salmonella 

contamination that was present in eggs produced and brought to market 

by Wright County Egg and Hillandale Farms. 

The investigation into the ultimate source ofthe salmonella 

contamination in the eggs is ongoing, and many other important 

questions regarding the recall and outbreak remain unanswered. 
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I hope the witnesses from the two companies and the Food and 

Drug Administration identify and discuss both the possible breakdowns 

in corporate management of food safety and the lack of appropriate 

regulatory oversight of an industry that produces eggs, which the FDA 

has historically considered a "high-risk" food product. 

I hope the CEOs here today will not try to defend the indefensible, 

especially when it comes to the failure to maintain good manufacturing 

and agricultural practices. Numerous documents reviewed by my 

Committee staff indicate possible failures in such practices. These 

documents include privately conducted testing reports for salmonella, 

FDA 483 Forms, audit reports, and sanitation reports completed by 

inspectors from the U.S. Department of Agriculture. Before and after 

everything else, it is a strong sense of responsibility by the producer that 

keeps our food safe. When problems are discovered, they must be 

examined and remedied by the producer, or people will get sick, and 

some may even die. 

A new Egg Rule was finalized by the FDA this July and the FDA 

informed the Committee that they plan to begin inspecting over 600 egg 

production facilities later this year. Good. But why has the agency 

neglected this industry in the past, considering the earlier problems the 

agency and the public have had with salmonella in eggs. I wish that the 

FDA Commissioner, Dr. Hamburg, had accepted the Committee's 

invitation to testifY here today. The Majority should have insisted that 

2 
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she come and explain to Congress and to the public what's going on 

during her watch, at her agency. 

Families need to be able to trust that the food they eat is safe. 

That's a fundamental measure of modem society, and it's why I 

supported the food safety legislation that passed this House in 2009. I 

strongly encourage the industry to shore-up their food safety systems 

and find new and better ways to increase the safety of our food supply so 

that we can prevent future outbreaks of food-borne illness. 

Thank you Mr. Chairman, I look forward to the testimony and 

opportunity to ask questions. 

3 
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October 26. 

res:pons(!s by Noyember e-
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Questions for the Record from the July 22, 2010, Hearing on Direct-ToConsumer Genetic Tests 

1. What gaps do you believe exist in genetic privacy law? What 

recommendations do you have for addressing these gaps? 

We cannot answer this question because it is outside the scope of our investigation. 

2. Who should develop standards (e.g. biomarker standards, risk algorithm 

standards) or other relevant criteria for genetic tests and how should they 

be vetted? 

We cannot answer this question because it is out.'lide the scope of our investigation. 

3. Should a minimum scientific evidence reqnirement be met before a claim or 

risk assessment is made in a direct-to-consumer genetic test? 

We cannot answer this question because it is outside the scope of our investigation. 

4. Describe in detail what genetic counseling services are available to potential 

and current customers of the companies you investigated. In your response, 

include information regarding the type of counseling provided, the training 

and credentials of your genetic counselors, time of availability and duration 

of genetic counseling, and all costs associated with receiving genetic 

counseling including one-time and ongoing counseling. 

As part of our investigation, we posed as fictitious consumers; purchased tests from 5 

companies; and analyzed the results we received, to include a comparison of 

counseling services where applicable.' After obtaining test results for our 

consumers, we also interviewed company representatives about the types of services 

offered to consumers. The descriptions below refer to the counseling services offered 

by each company at the time of our investigation. Unless othernise indicated, we do 

not know what services the companies currently offer. 

Company I 

Company 1 did not offer genetic counseling services at the time of our investigation. 

According to a press release dated June 3, 2010, the company planned to collaborate 

with an independent service provider to make counseling services available to its 

customers. However, as of November 4,2010, Company l's Web site still directs 

1 We also investigated advertising methods used by 10 additional companies, but we did not purchase tests 

from these companies or inquire as to whether they offered genetic counseling. Although we recorded 

conversations with company representatives a.~ part of this investigation of advertising methods, we do not 

know whether the representatives we spoke to were genetic counselors. 
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customers interested in genetic counseling to contact the National Society of Genetic 

Counselors. 

Company 2 

Company 2 provided our fictitious consumers with free genetic counseling services. 

Specifically, the company claimed that its "experts" would help interpret test results. 

These experts were available via phone or e-mail and there was no time limit on these 

conversations. However, we were unable to determine whether the company's 

experts were board certified in the United States because the company is located 

outside the country. 2 In addition, we found that the experts provided our fictitious 

donors with little guidance beyond the generally accepted health information 

contained in the test results. 

Company 3 

Company;3 recommended that our fictitious consumers use its on-staff genetic 

counselors to review test results at no additional charge. These experts were 

available via phone or e-mail to discuss results \\ith customers or to answer testrelated questions. There was no time limit on these conversations. In our post-test 

interviews, the company further claimed that its experts were genetic counselors and 

certified by the American Board of Genetic Counseling. However, all of our fictitious 

donors spoke to the same person, who admitted that she was not a board-certified 

genetic counselor. Company 3 has since changed its Web site to note that its 

counselors are "board eligible" as opposed to board certified. During post-test 

interviews, the company also claimed that the counselors review family history and 

provide consumers with additional information that is not in the test results. 

However, we found that the counselors provided our fictitious consumers with little 

guidance beyond the generally accepted health infom1ation contained in the test 

results. 

Company 4 

Company 4 counselors were available free of charge by appointment between the 

hours of 9 am and 5 pm Pacific Standard Time and there was no time limit on the 

duration of the conversations. We were able to confirm that all of Company 4's 

genetic counselors were U.S. board-certified. In our post-test interviews, company 

representatives stressed that their counselors explain the results, discuss beneficial 

next steps, and ensure that consumers and their physicians understand the meaning 

and limitations of the tests. They also said that genetic counselors can work with 

physicians and their patients to understand test results and facilitate a physician's 

infom1ed clinical decision-making. However, even though counselors recommended 

2 Board certified indicates that they are certified by the American Board of Genetic Counseling (ABGC). 

The ABGC issued credential recognizes individuals who have met established standards for graduate 

training and clinical experience, successfully completed a comprehensive general genetics examination 

and genetic counseling specialty examination, and committed to maintaining their knowledge and skills in 

a rapidly evolving field through recertification. 
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customers take their results to their doctor, during our investigation, a counselor 

from Company 4 admitted to one of our fictitious consumers that a physician would 

probably not know what to do ",ith the test results. For the most part, we found that 

the counselors provided our fictitious consumers with little guidance beyond the 

generally accepted health information contained in the test results. However, the 

counselors also encouraged our consumers to make dietary changes such as adopting 

a Mediterranean diet or eating curry to prevent Alzheimer's disease, claims that 

cannot be proven, according to experts that we spoke to. 

Company 5 

Company 5 did not offer genetic counseling services at the time of our investigation 

and, to our knowledge, does not currently offer any genetic counseling services. 
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Oelober 

l\!D. PhD 

University of North 

NC 27599·7264 

Dr. 

mail 
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9 November 2010 

Dear Congresswoman DeGette, 

Thank you for your interest in the implications of direct-to-consumer genetic testing and genetic 

privacy, matters upon which I testified on July 22, 2010. 

I am writing this letter in response to your follow-up questions, which I have reiterated below 

along with my responses. Please keep in mind that my expertise is in genetics and the practice of 

medicine. While I have spent considerable time dealing with the broad social implications of 

genetics and genetic testing, I am not an expert in the Law and apologize for any mistakes I 

might make in my answers. 

I have also included with this letter a copy of my testimony from this summer. 

To address your specific questions: 

L What gaps do you believe exist in genetic privacy law? What recommendations do you 

have for addressing these gaps? 

Privacy issues are of concern in the realm of genetics due to the fact that one's DNA is a 

uniquely identifying materiaL a small amount of which enables you to be differentiated 

from all others on the planet. Moreover, genetic anaJysis can reveal many things about 

you, ranging from your predisposition to disease your ancestry. Given the growing power 

of DNA analysis, its plummeting cost and the proliferation of genetic testing options 

being marketed to consumers, it is reasonable to think about how an individual's genetic 

infonnation might be (or not be) protccted when they submit a sample for analysis. 

Significant gaps in privacy protection do exist at the current time and there is no federal 

legislation, which broadly addresses genetic privacy. While there exist state laws of 

various sorts, they are highly inconsistent and vary a great deal in the degree and types of 

protection offered. The Genetic Infonnation non-discrimination Act (GINA) does not 

address privacy issues and is therefore not relevant to this discussion. 

HIP AA has some provision within it for the protection of genetic infonnation, but does 

so in the very narrow sense of only protecting the pri vacy of medical information. One 

might consider labeling all genetic infonnation "medical", thereby affording broad 

protection to genetic infomlation. However such a solution is problematic given that 

much genetic infonnation that individuals might legitimately want protected is not of a 

medical nature, per se. Such sensitive genetic infonnation could include one's propensity 

for various behaviors and personality attributes, which have clear genetic underpinnings. 

Thus one option to broadly protect the privacy of potentially sensitive genetie 

information would be legislation at the federal level. Such legislation would have to be 

nuanced in order to appropriately deal with the heterogeneous nature of genetic 

infomlation. For example, certain personality characteristics and behavioral attributes 
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might warrant strong privacy protections whereas other types of genetic information 

(such as ancestry) might be seen as less needful of protection. It would seem that one way 

of getting to such a nuanced approach would be to give as much control as possible to the 

individual who is undergoing genetic tcsting so that she or he could control its use and 

dissemination to the extent they are comfortable with its release. Envisioning such an 

approach highlights the importance of something I emphasized this summer in my 

testimony: the need to regulate claims by the testing laboratories so that the public is 

presented with a fair and accurate picture of thc true risks and benet its involved in 

testing. 

It seems to me that the FTC has an important role to play in the protection of genetic 

privacy. It is my understanding that this agency has broad jurisdiction to regulate "unfair 

trade practices" and that if a commcrciallaboratory has a privacy policy they must live 

up to it. It is also my understanding that the FTC has expressed the (reasonable in my 

mind) notion that it is an unfair trade practice not to have a privacy policy. However. an 

apparent gap in the FTC enforcement is it doesn't givc the right to an individual to pursue 

breeches of privacy; rather. the FTC must do it. I believe that some state laws fill this 

gap. Thus, I feel that the FTC could play an important role in addressing privacy issues 

with regard to commercial genetic testing. 

Finally, a simpler approach to addressing at least some aspects of the genetic privacy 

issue would be to increase transparency by establishing a clearinghouse to compare and 

illuminate different privacy policies by different companies/entities (and perhaps track 

the dissemination of such information). 

2. Who should develop standards (e.g. biomarker standards, risk algorithm standards) or 

other relevant criteria for genetic tests and how should they be vetted? 

Professional organizations such as The American College of:vledical Genetics, the 

American Society of Human Genetics, the Association of Molecular Pathologists. the 

College of American Pathology and industry groups all have experience in developing 

the kind of standards that could help put genetic testing on a more consistent, firm and 

protected foundation. One could envision industry standards developed by such 

stakeholders enhancing the reliability of testing -like a "seal of approval" which, while 

perhaps not mandatory, could at least serve to highlight the most legitimate entities 

involvcd in genetic testing and give the public some guidance in this highly technical and 

confusing tield. 

I also readily imagine a role for certain governmental agencies such as the FDA in 

regulating such tests. Indeed. I applaud the FDA's general intent to take a risk-stratified 

approach to the regulation of genetic tests. The devil. though. is in the details. 

Appropriately defining risk is difficult and both over-regulation and under-regulation 

could cause mischief. The solution. I believe. is for the FDA to work closely with 

professional organizations like those I have listed above. It is only through such close 

cooperation that we \vill develop nuanced regulation on a case-by-case basis that will 
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benefit the American people. simultaneously protecting them but not quenching 

innovation. I would also highlight the fact that the Centers for Disease Control has also 

been active in such pursuits and has an admirable program (EGAPP - The Evaluation of 

Genomic Applications in Practice and Prevention) designed to assess the reliability of 

genetic testing. 

3. Should a minimum scientific evidence requirement be met before a claim or risk 

assessment is made in a direct-to-consumer genetic test? 

Absolutely. Many of the claims, both implicit and explicit. now being made by DTC genetic 

testing companies are groundless. Such exaggerated and overtly false claims (both implicit and 

explicit) risk not only the health and finances of the public but risk tarnishing the entire private 

laboratory testing industry which, if properly behaved, could thrive and benefit us all. The GAO 

report elegantly revealed the lack of credibility of current tests and the vacuous nature of the 

claims made even by the industry leaders. Exaggerated and inaccurate claims are not only 

detrimental to those who purchase such tests but in the end will undermine the credibility of the 

entire endeavor of genetic testing. 

Thus, I advocate for a requirement that claims, especially those related to health matters, be 

demonstrably true and backed up by evidence. It seems to me that this might be done with 

existing regulatory capacity in that the FTC is charged. if! am not mistaken. with ensuring that 

advertising claims be true. I would recommend that they be more aggressive in their scrutiny of 

the purveyors of suc h testing. 

I hope that I have answered your questions. Please don't hesitate to contact me if! can be of help 

or if you wish further elaboration on these or relatcd issues. 

Sincerely, 

James P. Evans MD. Ph.D 

Bryson Distinguished Professor of Genetics and Medicine 

Editor-in-Chief; Genetics in Medicinc 

CB# 7264 

Department of Genetics 

University of North Carolina at Chapel Hill 

Chapel Hill. "KC 27599-7264 
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November 30, 2010 

Hon. Henry A. Waxman, Chainnan 

House Committee on Energy and Commerce 

2125 Rayburn House Office Building 

Washington, DC 20515-6115 

Michael J. Madigan 

(202) 339-8523 

mmadigan@Orrick.com 

Re: Response to October 26. 2010 letter request to Ashley Gould, General Counsel 23andMe 

Inc. 

Dear Chainnan Waxman: 

This letter responds on behalf of 23andMe, Inc. ("23andMe" or the "Company") to your 

October 26, 2010 letter request, which contained supplemental questions from Representative Diana 

DeGette. 

1. What gaps do you believe exist in genetic privacy law? What recommendations do you 

have for addressing these gaps? 

On the federal level, the Company believes the Genetic Information Nondiscrimination Act 

of 2008 ("GINA") is a good start toward protecting against genetic discrimination in the workplace 

and as it relates to health insurance. However, GINA does not protect against discrimination in the 

areas of life and disability insurance, where increased protections are needed. One of the most 

common questions of potential 23andMe customers is whether their genetic data could be used 

against them by insurance companies. As the Company believes that genetic data will be 

increasingly and extremely useful as part of healtbcare in general and an individual's medical record, 

the Company believes that the protections against misuse of genetic data in the areas of healtbcare 

access and health, life and disability insurance need to be addtessed. The Company recognizes that 

there might be other gaps in GINA's application and that it could be years before they become clear. 

2. Who should develop standards (e.g. biomarker standards, risk algorithm standards) or 

other relevant criteria for genetic tests and how should they be vetted? 

The Company believes that industry should work collaboratively with federal agencies, 

including the u.s. Food and Drug Adtninistration ("FDA") and the National Institutes of Health 

(''NIH''), to develop and maintain appropriate standards and regulatory frameworks. In this regard, 

the Company has been working with the FDA and has proposed a framework for regulating genetic 

tests that encompasses the technical challenges underlying genetic technologies and sets a high 

standard for transparency and openness. The FDA is currently reviewing 23andMe's proposal. 

CONFIDENTIAL 
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Response to October 26, 2010 letter request to Ashley Gould, General Counsel, 23andMe, Inc. 

November 30, 2010 

Page 2 

The Company also believes it is imperative that regulators appreciate the rapid pace of 

technological advancements and the impact they will have on any standards that are created. The 

Company believes that regulation must be carefully designed to avoid stifling innovation while 

simultaneously being realistic about the capacity of regulatory bodies to review new devices. For 

this reason, the Company believes that transparency and interaction with the broader scientific 

community are important for understanding and vetting interpretations of genetic data. For 

example, 23andMe presented new data examining our biomarker selection and risk estimation 

algorithms at the American Society of Human Genetics meeting earlier this month. 

3. Should a minimum scientific evidence requirement be met before a claim or risk 

assessment is made in a direct-to-consumer genetic test? 

Although the Company believes that all genetic testing companies should be responsible for 

substantiating any claims or risk assessments they make, 23andMe also believes it is important to 

carefully articulate the type of substantiation that should be required. For example, the Company 

does not believe that uniformly requiring scientific consensus on the markers used in genetic tests is 

an appropriate path forward as it would stifle innovation in the development of novel healthcare 

tools, would prevent doctors from obtaining information that could be useful in making medical 

decisions, and, in some cases, would be scientifically impractical. 

However, the Company recognizes the importance of both ensuring that consumers 

understand the limitations of claims and risk assessments when scientific consensus does not exist, 

and, thus, strongly supports the need for transparency in the interpretation of genetic data. To date, 

23andMe has published a white paper describing the scientific evidence criteria used by the 

Company, and, for each of its genetic interpretation reports, the Company provides detailed 

information on each genetic marker used. Furthermore, each of its reports emphasizes the 

importance of consulting with medical professionals before making medical decisions. 

Fundamentally, the Company believes that all individuals have a right to their genetic 

information, and that companies like 23andMe should be responsible for providing the appropriate 

context so that individuals clearly understand the meaning and limitations of the information being 

presented. 

CONFIDENTIAL 
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Response to October 26, 2010 letter request to Ashley Gould, General Counsel, 23andMe, Inc. 

November 30, 2010 

Page 3 

4. Describe in detail what genetic counseling services are available to potential and current 

customers of your company. Please include information regarding the type of 

counseling provided, the training and credentials of your genetic counselors, time of 

availability and duration of genetic counseling, and aU costs associated with receiving 

genetic counseling, including one-time and ongoing counseling. 

23andMe docs not provide genetic counseling services, and the Company believes it is 

important for genetic counselors to be independent of the Company. Since launching, 23andMe has 

provided links to such services on its website. Since June 2010, 23andMe has formed a nonmonetary referral relationship with Informed Medical Decisions, Inc. ("Informed") to refer 

customers who seek genetic counseling services. Informed is a national, independent genetic 

counseling firm staffed by board-certified genetics counselors who have additional training in 

23andMe's services and reports. 

To be clear, there is no financial relationship between 23andMe and Informed. Interested 

customers sign up directly with Informed and pay Informed directly. For more information, please 

see the attached press release. 

5. Please describe in detail the process by which a client of your company receives a 

genetic evaluation. Include all steps that take place, from the point a client or physician 

solicits information about a genetic test to the point when a genetic report is received. 

Our customers sign up for our service online. After purchase, we ship a saliva collection kit 

to customers, who provide the sample and mail it directly to our contracted laboratory, National 

Genetics Institute ("NGI"). After NGI receives proper authorization from the Company to process 

a saliva sample, NGI extracts DNA from the sample and processes it using IIlumma genotyping 

technology that analyzes nearly 600,000 data points; the number will grow to approximately one 

million data points analyzed on 23andMe's recently announced new version of the genotyping chip 

used for processing. Samples are tracked between NGr and the Company and are authorized for 

processing through unique barcode identifiers assigned by the Company. After NGr completes the 

analysis, the collected data for each sample is encrypted using leading technologies to protect 

privacy, and sent electronically via a secure Internet connection to 23andMe, which then uploads the 

data to the customer's individual account. 23andMe then notifies the customer that his or her data 

can be viewed. Customers use a Secure log-in identification and password at the Company's website 

to access the data, including reports and features developed by the Company. 

CONFIDENTIAL 
194 


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Response to October 26, 2010 letter request to Ashley Gould, General Counse~ 23andMe, Inc. 

November 30, 2010 

Page 4 

6. Please describe all measures used by your company to protect client privacy and client 

identity. In your response, please discuss sample and data storage before and after 

samples are processed, and data transfer between all involved parties (e.g. between 

client and your company, between your company and contractors, between your 

company and medical professionals). 

23andMe provides strong safeguards for customer privacy and confidentiality. The 

Company has invested in a sophisticated technical environment for the storage and security of 

customer data and has had the Company's security systems independently audited. Genetic data is 

stored securely and separately from personally identifiable information, such as name and credit card 

information. The Company's servers and data reside at a secure data center facility that requires 

biometric data to gain access to the physical space in which servers are housed. In addition, the 

Company's research team is not permitted access to the product database through policy and 

technical means. And, the Company's employee handbook prohibits the misuse of customer data 

and notes that such misuse is subject to discipline, up to and including termination. 

23andMe's website contains clear statements about customer privacy protections in two 

places - the Terms of Service (see Provision 8) as well as a separate "Privacy Statement" - both of 

which can be accessed through links on every page of the 23andMe website, including the home 

page. Both documents are also attached to this letter. In addition, the Company has consulted on 

privacy issues with leading experts in the field, including the Electronic Frontier Foundation, to 

adopt high standards for storing and safeguarding customer data. 

Before being sent to a customer, each sample vial is labeled by the Company with only a 

unique barcode, and the accompanying file authorizing processing includes each customer's sex and 

date of birth, as required under the Clinical Laboratory Improvement Amendments. This is the only 

personally identifiable information NGI receives about our customers, and only 23andMe possesses 

the information to match it with a customer name. 

After NGI processes a sample, as noted above, it encrypts a customer's genetic report and 

sends it electronically to 23andMe via a secure Internet connection. The report is then uploaded 

into the customer's account for the customer to see. Finally, the customer accesses his or her 

account through a personal identification and password. 

No individual customer information is ever disclosed to third parties without explicit 

customer consent, unless required by law. Customers have the right to decide if they would like to 

participate in research intended for peer-reviewed publication, and they do so through a consent 

form. In such instances, customer information is only provided on an aggregate basis and never on 

CONFIDENTIAL 
195 


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Response to October 26, 2010 letter request to Ashley Gould, General Counsel, 23andMe, Inc. 

November 30, 2010 

Page 5 

an individual level, unless the Company receives explicit customer consent. As a constant reminder 

to customers, 23andMe's Privacy Statement, consent document, and Terms of Service are all 

available for review via links on every page of the 23andMe website. 

* * * 

Because this letter might contain confidential or proprietary business information or records 

about the Company, we request that the Committee treat it as confidential, and we have marked it 

"CONFIDENTIAL" accordingly. In the event that the Committee intends to disclose any of this 

material in a public forum or to an agent, employee, or other person affiliated with any competitor, 

the Company requests that it be given advance notice of one week to permit it to address the issue 

with you. 

In addition, some material in this submission might contain material that would normally be 

subject to the attomey.client privilege or work product doctrine. While we believe it is important 

for the Committee to be aware of this specific information, its submission does not constitute any 

present or future intent to waive any rights or privileges of the Company with respect to this matter, 

including any applicable attomey·client privilege, work-product doctrine, or another privilege. The 

Company expressly reserves any applicable privileges to which it is entitled under the law. 

If you have any questions about this letter or the attachments, please contact me at (202) 

339-8523. 

Sincerely, 

Attachments 

cc: Hon. Diana DeGette 

CONFIDENTIAL 
196 


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Press Release - 23andMe Enlists Informed Medical Decisions to Make Independent Genet ... Page 1 of2 

about 23andMe 

Team 231lrulMe 

News 

Core Values 

PoIlc1Forum 

C«oorn!e Info 

"',' 

who we are 

Boaroof Director$ 

Etlit01lalAd\lis.ors 

Scieffiific Advisory Board 

news 

press release 

23andMe Enlists Informed Medical Decisions to Make Independent Genetie 

Counseling Servites A'\'ailable to Customers 

MOUNTAlN Vlio..'W, CA -Junr- 3, 2010 - :!.\slIdMc, Inc., a leading pcrsonaigenctics COInfllmy. hils e:ngagt'd 

Infonned MedIcal Decisions, 1m;, 1.1nlbnnedDNA). a naliol1wide network ofboard-certified 1-oenerics expertS, to 

offer independent genetic counseling scrviC\..'S to new slid existing Cllstomers of its Personal Genome Service '\"No 

"This new illitiative with InfonnedDNA Ulean.~ that 23andMe customers now have the option 10 tolk about their 

results. with a board-certified I,!enetic COUIl!>e!or who bas been specially trained in 23andMe's uniqtl~ reports and 

processes:' said Anne Wojcicki, 23sIIdMc Pn.'Sidenl and Co-FOtmder. 

''We chose to work With inronned!)NA because they are a ~jng national independent provider of genetic 

counseling servi(;eS." stated W~icic.kl "We wanted to ensure tllat the informat:lon our customers: receive IS 

completely objoctiw." 

23andMe customers interested in talking with a genetic C<llInselor from lllfonnedDNA <:an choose from twO 

levels of service. FOf"those WIth general questions related to their 23aru:lMe results, an informational Personal 

Genome Service (PGS} is available. Customers who want a counselor to condu<:t It ~ thorough review ofthcir 

family and rnedi<:al histories. and IlkIM: WJIUSC resulh show that they carry variants \\-1lh potentially seriolls 

implications, can c~ COOlpreheusi .... e ('iinicaJ Genetic;: Counselin~ Detetminin~ whether the Comprehensive 

Clinical Genetic C'OWlSeling option is oppropriote is based on national clinical guidelines for genelic colmseling 

referral. 

23andMe customers who choose IX! milize tile service~ oflnformcdDNA will connect With 11 genetic counselor by 

ph01Je.. Convenient appoinnnems arc available seven days a week and can be scheduled onlJlleurby calling" 

dedicated lon·tree pllOll<.' line. lnformcdDNA Patient Care Coordinators are availablc to a£siSI cU$l(!1ners in 

clloosing (he le\'d ofsen'ice thai is riglll f«them. All infonnation will be kept strictly coofidcntia!. A guide to 

the prici~ for 23andMe ,-1lS£omm who wish to Ulilize the genetic counseling ~1Ce:; is lisled on 

InfonnedDNA·s webSIte 

"Infunned Medical Decisions is pk'as-.'1I 1o \xl workil1g with 231l11dMe IQ expand 21C¢eSS 10 gelleli~ cXI)l!fts. 

especially for people who know (If or ;.uspet.. they may be al risk for hereditary disease. We sllitne 23andMe for 

offering customen: convenient access to our petie a>lmselors." said David Patrick Nixon, In!bnned Medical 

Decisions ('hicfExOOltiw Officer. 

AbontlJandMe 

TI~1e.. Inc. is a leadnlY pef:Stlllal genl.'1ics complUly dedicated to helping indiyiduals understand tltdr own 

genedc infonnation through DNA analysis leclinoJogil."$ and ~b-hased inlernctive tools. The company's Personal 

Genome Service"" cnable.~ indiVIduals to gatn deeper insights into their an<:e:itty and inherited lraili, The visioo 

for 23andJI..le is to personalize healthcare by makinl,! and supporting meanint.>ful disooveri~ lhrou{!:h genetic 

research, 23aruf,'Ae, Inc., was fouuded in 2006. and lhe oompany is advised by a group of r .. '1!()\\llcd experts in 11~ 

fieJds of human genetics, bioillformatics alKl cootpUter science.. Its investors include Gtnentech. Inc .. Google Inc. 

(NASDAQ: aOOG) and New Enterprise Associates. More infurmatiOll is available lit www23:mdme.com. 

InfonnedDNA includes lhe largesl indepeudent nerwork ofe:enetic counselors end is the \))11:,>"· national provider 

whose ~ices are.a \;o\'tll"e(! l1el.len! for most individuals with comroen.ial health insurance !ts pioneeri~ 

telephonic service dcJi\'er)-· modell"Clllov<.'3- barri ... "f"S to care (gwgraphy • UmlPlage. culhirw /lild diukal sp..'Ciaily) 

for pa!iQllts and has been rccoglliY.\.,(/ by the lns!itulC ofMedieine IlIld Surgeons Generals' N»hornli ('all 10 ACIWtI 

on Cancer for inllQvatlons and clinical excellence. 

Mtdia ContllCI1: 

https;//www.23andme.com/aboutlpress/20 1 006031 1113012010 
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Press Release - 23andMe Enlists Informed Medical Decisions to Make Independent Genet... Page 2 of 2 

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Ms} it.;. ::o.~$ :ZantlMe ac,d Thllo p;)rK!'";"ot')'slr;slltVle t,,,"lOc.,,)::.? i(1'!<l:;.Ji;; to Ad'i;;l<"'iCe: PUNI<'sons 01$<'1<1,(1 ReS03r& 

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https:llwww.23andme.comJaboutJpress/201 006031 J 113012010 
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Terms of Service - 23andMe Page J of8 

aboul23andMe 

Team23amfMe 

,-

ComV"",, 

PolJeyForum 

CorporatelnfQ 

J"'" 

who we are 

aootdofOlrectol'!/o 

Editorial Advi$t)!1i 

Sdentifu: AOviflO!)' Beard 

terms ot service 

• "'23llndMe~ means. 23andMt, Inc .. whose pl'\lidpW Piaw d busines$ is at 1390 SI'lorntI!rtI Wt/tJ, Mountam VIew, CA 94043. 

• "23andWe Reaetrd'I" means tcieotific research tMI230ndMe pMom'l6 with the intent to puO/I$h in a peer~ scilln:titlc joUrnal 

23MdW& Research only uses Genetic and SaIf..Reported lnfoonaion from users who Mvt gMm !:IOM$nt aceortIiI"!g to the appIieabIe 

Consent Document 23slcI\I\Ie ReMar¢h activities do not i~ R&~. 

• "R&D" meant resnreh and tftrvetopmtnl acIivibe$ ~ by 23andMe on userdata. These adivililH may Include, among oh:r 

things. iI'nproYIng our StrwIoo$ and/or ofteritlg new prodUCts. or $OMt8S to yoo: pertomling quaIlty contl'O! activities: concIucting data 

8rniIiy$l$1hI1 may leadtn and/or jnc:fude c:ommercia!!zaIion WIth a tI'Iird party, 

• "~"or ''ServIces means 23andMn products, liOftware, MfIIlcee.. and website {iOcfUClng but not!mttd to text. graphics, 

images, and other material and informatIOn} as aOO&SSed from time to lime by the user, ~ if !he use is In conneetionwfth an 

accountOl'nol 

• "Pfl'aonalb'lformaUon" is Infomlation that CJII'I be used to identity you. either slone or in combinatiOn ¥ritrl other tnfOrrnaUon. 23arIdMe 

CXlh<;t$ and .stores Ih& following types of Ptr$Qnallnfotmation: 

• "Regi$htiOn JnfortsmIon .. is the II'lformabon you Pfl'IIide abotA. yournefwncn regiIlleMg forandlorpurehasing our Servic:es 

(e.g. name, email, address, U$G(IO and pe!lswon1 and paymenl informalion). 

• "'Genetic InI'onnatfOn" is lnformatiOt'l regarding your~ (e.g. the As. n, ClI, and Gs af PMJruI« Ioe4ttions In your 

genome). generated Ihrough pnx:ening of your saliva by 23andMe or by it$ ccntrador$, *~ssora. and lIAIgnees: or 

o1tl8l'wl$e ~ by aodiorcontrlbuted «l23a/'ldMe, 

• "W-Reported lnfom'u!tlon" is atllnfon'nation about yourM!f, incIutIt'tg}'OlX disuse cont:fitiMI, othef he$l1tHHted 

If'1I'ofmatIOf\ peI'SI)naIlfaits. ett'lnicrty, tamByhtstDry, andolher/nform:atklnthityou eoI8rintostl!'Vey$, form6. orfeaturuwtlile 

si;ne<I in to your23andMe aa::ount. SeJr..Reported Il'lfoIlrnIIIonbl tndudecIln23andWe Rase.aren Only if fthat bun j~ for 

23end\Ne ResmIn::h use ontlwwebsiteand /fy¢U have lPYen consent as ~ In the appIIcabIt Cement Document, 

"'Ueer Content'" Is all information. data, ten. sortware, rnuslc, aucio.~, graphics. v\d$O. messages, wother msteriai$ 

-ClhtJrth&)Genetie!nfOtmaIklnandSelf.Report&dI~d\:lyuseraOf23andMeServicosandl.rBn8n'1lted. 

Whelh$rpubicly Of prWateIy. to or hough 23arn:1MfL 

• "Web ~ InfonDation"" is InfOrmation on hOw you U$8 the 23andMe~ ("g. browsef'type, 00meinS. j:lI!Q(t viaw$) 

eo!IeetQ(Ilhroughlogflles.cookies,am:J;vebbelK:onted'tnoiogy. . 

• '"At9f8D*'*' Genetic and s-If-Repomo InftH'mation" is GimeUe .end StIf-Rtport«1InfOlm8t:ion \hat hQ bIMn IIirippIKI of 

~Ir'IfCrmatlonMdeombinedWi!hdBtaftomaf"ltJl"nbarofolherusersSUl'fie.ierlttotninlmiahPOSslWltyOffD(pO&ino 

~infoImafionwMe!;liIIproyidlng:scientitie!lNidenc&. 

YourU$e012:te:ndMe'$.SeMce$(exetudlngany&erw:eSprow,iedby23andMeU'ld8ra&epaI'ate~IS~totheI&tTrlS0f1M 

Iep! ~ between you and 23andMe set forth in 1/le$e Terms QfSeNlCe (1'0$"). E)(()ept as specified heteln. these lOS apply 10 

anyUS&ofth$S«vices,inclucfingbi.ltnotijn"l!tedtoa)'ubmittIn98salMl~forONAexIt8efionand~b)uptoadi'og.dgItaI 

vert/On of your Genetic IIlfo!matIon and mteracIIflg with II: on lfMI23andMe \ll8b&ite, andfo( c} UfHlIting and using a free 23andMe account 

withOiJtprovkfing)'OVl'$8Iiva sempJetorGenebc Illfonnation.lnordGftouselt"Ml! ~CfJS. youmumfi~ agre.toU'leTOS. You may notU$& 

!he Serv\ce$lfyoudo notaceeptiheTOS You can accept !heTOS by(1)ctdUngtO~Ofagnt\!lto1heTOS. wh$\'e lhlIiIoptioni$rnade 

avsiabIe to you by 2~efof any SeMCe. or by (2) actuaUy uaing the SetYlces. In ttIi$ cue, you acKnowledge and ~ thal23andMe 

will iNal your use Of the &uvk:es 8$ 8¢CeptaMe of the TOS from that point ClflWat'ds. In addition. when using particlJar 23andMe Senolt4ts. 

you Shall be 5UtljeC1 to anyguklftlines or ruies apphcabIe 10 SUCh services: lhatmay be postoo from1JtTle to lime. AI! sutt! guideline$orrule$ 

arel"lel'ebyj~b)'.refereneelf'ltoth$TOS 23GndMealsomayofterQltleraeNleesfromlir'netolimethatate~dbydifferent 

lermsofservice . 

•. \l\tletheryou suJ)mI! yourown saliva samPle, a $Sliwa Mmplefor anyone for whom you have legal authority to I1191'ft, or~ 

prov!deyoUfown Genetic: !l"Iformation, you may nof usethe SerW;e$1VKf l1\8y not.acoept the T05 if(l}you nnototlBgal age 10 

form a bincIlrg contractw\1h 23aodMe. or (Z}you aII\l3 Pet$CIIlbalTSdfromreoelYlngthe5ervices under It!e laws OfIhe}uriBdictlon 1'1 

WhIch yew ate mJdeni «from wh/d'l you use th& Services. 

b. In addItlon 10 !he c:onditIons above. if you eot\trIbute or oIherwIse ptO\'Ide}'OUl" own Genetic Infon'na!ion. you muet be ~ (lS) 

yearn of age or okIerto agree to these TOS on behalf of yourself or those forwnom yOU tuwe legal eutI'Iority to agree 

c. If your 1M Of the Services includes Cl'eat!ng a 23WMe ac:comt. wIlhot.It IIUbmIttlng 8 S8liva sample orotherwise providing Gene!k 

Information, you must be !tlirt8en (13) years'3fegeorokleftousethe Se.rvk:e$ anda::cept h TOS. 

4. DesctiptIonof the SefY!cu 

The~lnclude8CQ8$ltothe23andMepubltcwebsfteandpel'1Cl'lal~~inctuding:UlecoileetionandanalylQ:of'fOlJl 

sallvaS8mplttt.lT'lllW;9XpIidIly$tatedOll'lerwtM,flachnewfeaftJr&lhaI:~orenheooestheeurrentServieeshallbe$UbjeCtlothe 

TOS. You acMowtedge and agree ihBt the ServtceS.8lf& proWje(! ~AS·IS'" and ant ~ on the cwront stale orb art Ofgenelic ruean:h 

anc!toohnoIogyi!'lU5eby23sndMe.atIheIJm.otthepufChaseor\'iewir'lg.A$roseatCI'\~Sand~~Md~ 

evoI¥e,23endMeisCOflSlllntlyinnlMftjnglnonterlo~1hebestpouiblee~forltsusen Vw aclrnowtedgeandagnJ8 that the 

fbtm aoo NVJI1't of tnt S$I"\'iC$s whiCh 23andMe ~ may d1ange from time: 10 lime without poor nollce Ioyou. As pan oI'thIs eomtI"IU!I'\g 

innovGllon, you 8dln~ and agree that2:)anOMe may stop (pennanenly Ql'"temporar'ily) providing some Set'IIioea (or anyteatures 

https:J/www.23andme.com/about/tosi J 113012010 
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Terms of Service - 23andMe Page 2 of8 

at any tlroo 

account 2:3andMe assumes no respof'lS-ID1l!ly for jr.e use of $er¥!"es OUISH:$ tne le~ or jhls 1'OS or other appl,canle \e!mS. 

in order to us,; the Sef\'1ces. YOll must obtain illlemet acc.ass, either directly or :hrougn d!Mca that access we~based comen!, and pay Sri), 

S€MC:e fees aSSOCl<:lleo with SUcfl access You are $Oloe:!y responsIble lorpajllog w:::h fees inaddlhon you mLlSl proVldil all eQlllpment 

necessary to make SlXh Intenwt cnnnec!Jon. ncludmg a computer and mOdern or olher acceS5 devl(:e You are sQ)aly responSIble f¢r 

proVldmg such eqU!pIMflt You acknowledge and agree Iilal wMe 23andMe may noi o')rrenUy have set a fixed upper llm,l on tM numt>erOf 

transmisslonS)lou may sefid or receive through tl'le Services or onlne amount of 5tO!'a9¢ spa::.(l used fOf tne prOVISion of sry SeMce, sU<_"I 

fIXed uoper limits may be set by 23.;!ldM.e at any ~rne at 23andMe's dl$Cfetlon 

s.. rusks 1:Ind ConsklenUons RegardJng 2landMe ServiCes 

Onc;e you obtain yourG,mebc; Information, the knoWledge is h'l1!vocable, You should nOl assume that any mtormationwa rNly 00 able 

to proVld$ to you whether I10W or as gemme researc.'1 advances, WIU De welCO,'TI6 or p!)slllve You snou!O also understand tI'.at as rosearcl1 

advances, In orderi« yow 10 assess tM meafli[lg of your DNA In V19 ¢¢.."I1(!xt Qf sucll advances, ycu may nae<:! to otI!am fu~ !IeNlces 

from 22andf..m or from your phys'Clan Of Olherheatlh care provider 

You may learn lnfonnat\orl about :;ouf$eff that you do not &ntlC1POltl;e. This information may evoke strong emotions and has the potential 

to ant!( your!lfe ana wondview You may d,sccver lI'u,"1gs about youJ'S€!1 that trouble yow ana that you may nm n~ the ab~ity to contro' or 

The laboratory may not be able to proc:ess your !>lImpie, and the: laboratory process may result in e,rro/'$. The 13botatOl'y may not be 

able to process your sample It your salj\l3 does not CootSIf" a sufficient 'K11ume of DNA you do not prOl/lde enough saliva, or the res,Ults from 

pmcessi'lg de 1101 met!l our standards lor 3ccurncy If !he milia: pro~ss!:"I9 131:$ fe( atly 01 mese reasons. 2:1andMe Will fa;ll'OOOSs the same 

sa~e at no cnarge to the user. If the sectrlC at1empt lC pn:x;ess the same sample falls. 23andMe W)!l offer to send another kl! to l~ user 

purchase of the service, If tnt;> \.Iser opts to recelVll> ano!ilftf sampt~ colh1lcliol'1 k!t anc 23andMe's sttempiS \0 process the secorlC! sample are 

uflS~$ful, 23a'ldMe wiU no! send adduIOl',a; sample Colied!O!" kitS am1 Ihe \.Ise~ Mti be et111tied solely and e;<clU5tvely 10 a complete 

refund oj the amount paid to 23andMc. klss SnlppH'l1l and I'landfmg, provided the user shell noj reSubmit another sam~ through a future 

purchase 01 the seNlce, Ift.'u! lise' breacr,es this poliCY agreement and resubmits an0U'1ef' sample. throlJgll a M'Jra pvrchase of the ssm¢{! 

aM prccessirt9 i& 1'1.0.1 succe.s$f",l, 23andMe wi!' no! offer to reprocess \tl8 sample or provide the liser a refund. Even for processing t,'1at 

meets Ol,.lf high standards, 8 small, unknown fractto,,- of 1.l)@<.Iatagenerateddunnglhii! labOratory proce~s may be un-mtarpretabie or 

Incorrect {relooetJ to as "Errorsi AS this PO:;Slblil~1 !s know!"> II"! advan~, use"'> are 00.\ entitled to rolunds where these Errors occur 

You shol.l!-' Mt aUlrIge yOUf' health behaviors solely on the basis of Information from 23andMe. Make SUr\.l to discuss )lour Genetic 

InformatlOf\ wllil a ohysidan or otoo" hil'a-llh cart' provioor before yoo act upon the Ge~tC informatKln resuiling from 23andMe $elV<ces For 

moSl cammen diseases, the g€nes we know <;!bout are onfy responSIble for a sma~ jradlon of t'le nak There may be unknowTI gMes, 

an &levaled genehc risk for a partt:;:<Jlar "'sease or ccnaibQf1, it does oo! mean you wHi defmwvely deV'£ilOP tru'! disease or COndition 1(1 er'J'ler 

case, If you have concerns or ques~O'1$ about \'that you learn through 23aMMe. yOIl should contact your phys~la:" or oUler healtr> cam 

provider 

GeneUe res(t;1N~ Is not compretllmsh'll. V\!hile we me!JSU'e many hundreds of thousands 01 dala polrots from your o,"iA. only a small 

percentage of them are known to. be related to human Iral~ 01 Matti) oondlUons The research t::Or'1m\iMy i~ rapidly k:ammg more about 

genetics, <mel an llTIpor!anl mSSlOl"l of 23andMe is to corlduct and contrlbute 10 thiS rose-arc!; In additIOn IThlny l\':tlm!C groups are nm 

GMetie information you share 'llrith others eoui(J be used against your interest!:. You $houle: be careful about shanrlg your Genel!C 

!ntOfmatJOn with others In tt1e Mul"it, t;lIJS1MSSI:S or Insurance. companies may request Gene!!.::: Information Tile Gen.enc: ln1orma!loo 

Nondlscnmmat,on Act was s,Qned In\() law '1'1 lr;e U"'ie{) Stales m 2008. and SOma bu! ",,1 ,.11. states and Coun'll ... hav ... laws tl1al prolact 

II'\dlVlduais with regard to their Gene!!c !n!CJma!JOI1 You may want to COI'1sult ala\\''Yer 10 urxlerslalld the eX1e1'll 01 legal pro!ectiol1 01 your 

Gel1e~IC Infor.;;abon before yO~l share (, WI!h anybody 

Furthermore:, GeMijc In:fom'latn)f1 that you cIloose to share Witt) yo,;r phySICIan or other he'altl' care p'ov-.der may become pa!'\ of your 

med'ca! reroro and l"IfOugll that route De accesSlbte to Ol.'1ef nealth care prolli<!ers aM/or m~r.tIn("..e c.ompa:'lles m the future. ~nE'trc 

11'l10:malion that you share with tamily, Inends O~ employers /My he Uiied against your Interests Even II }'O!.! sh;o:re Ge'1ellc Inforrnat;QI"; mat 

nasnoor IImlleo meanmg tOtlay.lhiit mlom1a1iO\1 cO'Jldi'lave graatermeaning In U'l€ future as new dlscovel1cs are m!lde,.lfyou are 1151<;00 

by an !I1suranca company wnethsr you have !same<.! Ganet/c lr;fo,-maUoi" about health cOndiUO'1S a'ld you do no! dlsclose t"ll5- to them, th!S 

ma~b<lconooerearotJerraud 

23al1dMe $ervlc:es lire for research, :l1format!.:>nai, lind wu.;atJonal use oot)'. We do not provlde medicoti adv;c;~< The Genetic 

1l1fotmatl0l1 provided hy ;?SffndMe t~ fer re;;earc.'1. mformall.::oal, a"ld educatIOnal use on.ly. Th!s mean$ 1'#0 thmgs First, many oj the gel"lebc 

discolleries that we reporl Ma"", n{)t been c!micai!y val,dalei::!, and the technology we use, wh,ch is :he same tet;;1l'lOlcgy lJsed by the research 

commumf'{, 10 dille has not Ooeen WIdely used for d;nlcal testing, Secclf:l, In order to expand and 1'!cce!erale 1M understanding and practlcai 

apptlcation Of genetic knowledge ,n heallh care we !TWile all geMtyped users to pa'l'Clpale;n 2J.and'Ne Reswrch Parbc:pauon in stx:h 

rese!'l!'d11s voluntary and based upon afl IRS-apprO\le{! conse<:t document As a result 01 1M cwrrem $iate 01 genetic knowledge and 

ullderstandll'lg. our Services an! for research, !liformat:onaJ 8r1d educationa:, pUrpo$t$ Ol'uy, The Se~~'ce5 <II<! nollnlended to be used by !he 

customer fIX 3'1y dlagnosnc pYrpose and ar~ not a sutrst!r..rte for proleSSlM9J medica! ai:Mce YOiJ sl'Itdd aiways stlel<; tile advtce of your 

iT'Iltlgabon. Ot prlavan!lon of 

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tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 211 here 78125A.135

Terms of Service - 23andMe Page 30f8 

23anaMe does nOl 'nc.'>mmenC or endorse any speCIfic I::OlJrse of acl1on, resources, tests, physloa!' or other hea~h care DroV1~r&, d"UQs, 

tr<Ul09'Cl\, med,ca! devices Qr other products. procedures, OPU1J{)<1S or o\hef !<'lforma~on Iha! may tle mell!'O/'led on our websIte As exp!amed 

on ourwebSlte. 2:.\andMe befi1)I'ES that (a) gen$\i:.:s!s only pari of tN: plCtUre 01 any IrtOMClual'S Slale cfbe!ng. (0-) the slate 01 the 

underSlardm.g Of Genetic iniormatlOt'l is rapiClly SIIOhl1ng anct 011 any gIVen time we only comprehena par' of me p'cwre if,!~ role of 

genetICS anc (C) only a tf'all'led p.''lys!ciar'l or other health care provider can assess your cun-en\ state of hsalth or disease, takinQ: mlO 

account many factors. 1!'lCludmg In some casas you' genetics as wall as yout current symptoms, It any Reliance on any mformaimn provided 

by 23andMe, 23andMe employees other; ilppå 0fI our webSIte <:11 tM Imn[at,on 01 23anaMe, or other \IIS!to~ tooor website IS solely at 

yourownns't 

\fIIh:tle we are iloonsed In Callfcma <lS a cl!ruC<li iabOr'l'ltary, not atl junsdcllOi"lt requIre our Services to be subject to license- Tt".ere/ore. Wl! 

are not U,'IYersally hcensed oy aU slale, federai, Of international au\hontms for genetic loollng conducted for health aru:l oj'$"'ase·~latM 

purposes in addrhon there afe certam ju[iSdlctl0fl5 In which we 00 no! Ol'fer our Services because we do flO! halle requITed I'cen~es 

6, User Representatlomt 

B)' ~cessing 2.?aI1(!Me Swvices. yo... agroo to acl\nOWledge, and reprGsent as loll(Nu. 

a You unoorstaM that InfofITlationyou leam from Z3andMe 15 no! deSign!!!! lodlagr105e, pn;!lIenl, orlmal any condjtorr o· disease or to 

asoortall11hC Siaia at yout health and that you (msrstand thalltt1!l Z3andMe SS:NlceS an? Intended for research. InformatIOnaL a'ld 

edu~t'onal pU'iloses ot,ly You acknowle<ige lnat 23andMe crges you t10 seeK ttle <lOvlce 01 your phy~Clan or o!t\er l'Wallh cere 

prOVlOfl'r 'f yDW have que$llOns or cOI1~ms anslilg from your Genetic Informat>on 

b Ytx.! give permission (0 23dndMe. lIs cOI'llractafS, s,,~sors and ass'gnees te ~orm 9en<Jtyp11\9 sero,ces on the DNA extra~'Wd 

!'rom your saliva sample and to dlsclol\e tnt: results of analyses performe';! on your DNA 10 you ano (0 oL'>ers yOl) specifically aul:"lQrize 

c Voo represent that you:are e'ghteen (1B) yea's of age or Older If you are providmg a saliva sample or eccesslng yourGanebc 

Inlormation 

d You are gtJllranteelngthat;my sample you prOl/lOa is yOi,J' sahva, If roo are agreemg 10 these 70s C!'l behalf of a person fO!' wtlorn you 

have l$9al aulhom;.atlon. you are cormrmH'lg thai Iha sample provided Will ~ lhe saffij)1e of lhat per$Ofl 

e II you are a C\J$\ome~ oulSlde the U S providing a s.ahVil sampla )'ou confi:m tha! lhl& act 1$ 110\ sub)eC! 10 any export ban or restrtC~Ofl 

'nlheCQuntrylnwhlcl'1yourestdw 

f YOU ag~ that any saliva sample you prO\!1de- <lnd aJ) rosuJtmg data may be transle.'Ted am;:ilor processoo outSide the counl,ry!rl whid1 

9 You are warranltftg that yo" are "101 an 1r'lSJ.Jronce company O~ <l!"1 employer atlempllT"lQ to oOtarfl Iflforma\!oi1 aoout an insured person or 

h You are aware that some of the I!1formal!Ot)yo~' receIVe may prO'l(')i<EI strong emOll!lO 

You IOIke raspoflSlbliity fer aU poss.ible corrseqUlllnces resuilmg from yoor 5t1anng with others access to yoot Genellc Information an~ 

your$elf·Rept">'1.edlnform.atiofl 

l Yru oXlde1sta~dthal all your Persona: Informauon will be ~Iore{f 'r"l23ar"ldMe databaS€~!If\d WIll be processed in acW'dance wiV", \he 

23andMe Pnvscy Stalement 

k, \Na,vgrof?ropertyRlghts 

developed or 23andMe or liS collal'.lomtmg partners You sptx:lfioolly ur'.tIetstand thaI you WlI! (t()\ receive cOl'npensatian for any 

research or commercia! prc..:!ucts Ihat Include or reSl..(l from your Gene!,,, Information 01'" Se'f-Repo.1ed Inrormallon 

YOll .a:9re~ tt1at you have the auttlolit)', ur'lder the la'NS of the $tat~ or juriSdIction in whfCh you reside, tu provid~ these 

representlltiont<_ln case of breach of anyone 01" the$e representations 23andMe has l'rnl nQl"1t ttl suspend or terminate yOYt 

account and refuse any and al! cutTen! or future us(! of the Servltes (Qr any portion thereof) ano you witt defenQ and Indemnify 

2:3aMMe and its affili<l;le& against iltly HabUIt)!, eO$ts, or damages. a05mg out of the brecach Of tnt: representatlon, 

7, Acwunt Creation, Customer Account, Pus-worn, and SecIJnty Obhg.ations 

;r: c:onS'Cler3l1on 01 you~use of tt',e &:'rvlces, ynu <]~ to. !l:) P'"OViOO troJe accurate Cuffe"!! aM COO'lp\ele RSg"'slrat:on Imormalion abo~lt 

youmelt as. prompted by the SefVIce and (tI) mainta'l"I /'1m promptly update lhe Re;;IWa~on Intormation to. keep!t jf1JQ, aCt;urate, current 

aM co'1'lp!me If you prOVlt.l~ afly Reg<l;t(ation Informatlon that IS untrue inacc(.rate. not ~,m!!nl. o· mcomp!el~, or if 23andMe has a 

1\'!<l'W'tabie grouod 10 suspect thaI such ml¢l"rna!lon IS un\l'IJ9, ma:;,c.jrate. not curren: or Incomplete. 23al'ldMa has the ng'<l to s\.:spenO or 

termlnale your ac.;ownt and rel'use any a1d all CUfTento' futJre UM! or !he Serv:ce (or a'l)/ pon,or, ~hefeof) 

Afll.r you h.,v11 porCllased our SCMCC. you will creal!> '" password arID w.::::Co<.mt ce&<gnation You are roSDOC1$Jbt:e fO!" ma"l\<ll)1ing 1M" 

C(Y>1ide1\lilllity oj 1'";.-:: ptlSSwtlrd and acc.oun! !Inc! are: fully resp0l'lSlbie fer Elil activit,es thaI xo::ur under yOW P;lS$WOrr:! or account If you 

allOW ~"'H'{j parties to access 23andMe's wepsi!e throl.l9h ,"Our usemame and password. you WlG delMd ano Indemnify 23andMe and itS 

ai'f,lli'lleS against any \ia~ht~. costs, ordama5j{!s, ind<oldil"lg attomey teeS. a(lSl,.,goul o! cla,ms or SUIts 0.'1 such thIn! parties based upon or 

rela~ng to $uCh a(",(XlSS and use, yO\.) 31Jll;W to la) Immediately nOl;ty 23andMe of any unauthOnzeO use (If 'lour password or accounl or any 

ot!1erbreacnof !iel:'.u!lty. and Ib) ens.ure U1al yoo: e~l( from you" axount ilIt 1m; e'1d ofea:::h seSSIon 23andMe cannot and WII! oot 00 liaDle 

for any loSS or Ctlmag€ arisjr.g ffCll! yOu'- lalMe 10 comply with thi~ Sect'Of"! 

$. 23ilodMe PrhrilCY Statement;md Djl\closur~ of )nformlltlo'l 

In order!o uS(! the $e1"'.r.c:es you must first acknowledge and ag~e to the Pnvacy SllItemeni ·'au may not use-me Serv>ces if you do !"lOt 

<lCl;ept the Privacy Sta:emeru "0;.1 can ~n()Wi(>dge and agree 10 t.'"1e Pnvacy Slatemrn>t bj. :'.' Chclll'1g to accept 01" agree 10 me PrIvacy 

S\alernefl!, W!lere \t".!S opLon 's made avtlOlable to touby 23andMI)"lor any Sel\'lte, Of by (2) "'-twally vSlf"lg IMe Servlccs 

YOl; acknowledge aM agree !ha\ 23andMe has the Il9Ml to monitor any use of Its systems by !IS personnel at any tIme afld mamtam c.op:es 

dowmeJ)~n9 !k!th mOf\Jlonng Our Pnvac~ Statement sets joM me onl~ e:q:>eet;)tloos of prwacy an) mdnIi;J,/al shoul!! halle!<") terms of 

usege of Ina: 23anclMe Services. weDs!le or other sys\ems. ff you have given u>n~ent tor yOU' Genelic ln1a=alW,", and Self·Reponed 

lr1forma!IOO \0 l)e U&&C!I1 23srxlWl:! Researd1 as described in 11m applicabH~ CDfllWlfl( Doc'Umen;. we may Include you' mfo:matlon In thE! 

Aggregated Genetic InIOrTn;;lIOIl and Self-R€ported Informabon we dlSdc1>e 10 th!l1:l pal'Jes for l"e purpc;SEt of pubi1cahm IfI a peer-re<:Jewed 

sClenhfv:: jou;naL 23arldMe may also lliclude your infom1ation In Aggresate.:l Gen0tre 3n<! Sel!·f~eportf!{j Information d,sclosoo to t'1ird·party 

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Terms of Service - 23andMe Page 4 of8 

an~ a" Fe<"SOGilJ If<'ormatoor: to law enfOlcement agen:::le6 or o:he's If f",Qu,red 10 do SO by law or Ifllhe goOd faith oe:lft. 1M! Su~h 

pr€!:>e'rv,31I()11 cr dlsCios",re IS reasonably nm:essaty to. (a) comoly .... ,It". legal process (Sud) as a judICial pmceedlrtg, court oroer. or 

{ll} 

perSOo'laJ Sillefy o<23andMe., liS emPloyees, 11.$ users, Its cliGnts. aM the publiC j(') sue,'1 event we WIU not,fy yOl.l lhroughthe contact 

Information yo'.,.) M\-'€ prOVlded 10 us ,,., adVarn::e unless comg so '!\-'tll.ll(t violate the law or a coul1. order. Yn,1 v;'ldarsland that the :eCl'lliiC<'l1 

prccessmg aM transmisSion 0' lIle SeNJ<';% • .ndudl'l9 your Personal )nforma~o:\ may 1(1\'olve (a) transm'SSlOns over various networks, and 

(I:» changes to confOlTfl 8'1d adapt kJ Ject'1rN.:a! reQwel"'let1!S or c(.-.rmectmg networks Of armces "'mally, 23tlnOMe ma}\ I'" its 50le dlsc .... ehQl1 

reslrictattesstothe¥fflPSlleforanyreru.on 

Please reler (0 our PnI'i'lC, Statemerl1 to re...">d about dfl,W protectv..m related!O your mlorma\Joo See our CCmplete Pnvacy $tateme,'1: nere 

9,Umitedllcensf! 

You 1,lOVlcw!edge :hal all elser (ornem, wheU'Wr publici\< pOllled or pn,'a~ely tr<In:>mt~ed. tS !he s:ne respooslbili:y of the persw. from whj:;"') 

suei'> Us-er Conloo\ cmg,natec Th,s means \i'mt yoo, alid not Z3'l!loMe are entirely f('lspons/l),e ~'" aU User CQ:'ltS;'1j l~"t you upload, post, 

emal'.Notnerw:5oI.ltrarts,..,ltvllltneS~VIC€' 

YIJU acknowledge tha! ttle Ser"'lC€:'~ COfl!eflt p-esented to you as part O'! t!le Services wt>e\tlcr 0'1gl(lal23andMe S"'Mces content or 

spon$ori;!d content witlin the Servlces. is protected l.1y copynght aMdi;;lr otJ,et inleiJec!l;/)i properly ,1ghts thai are owned by 23a"'-1Me anl!ior 

the sponsors who provide thaI ccnll'iEi~ to 23aOOMe (or by other ~rnon5 Qr companies on the,r t>ehalf) 23andMe grai1t$ you 8 umillild 

wcer'lse 10 copy Me d,stritJule free of charge fur nOft<.OmmerclSi purpose$. or-Jy, any of the Services C{):';!ent wilh 1M exceptron ~f OOill~111 

ffO"l't 'MO's P<lrspectives~ m tl"'e "For Ille E>;pMS" ~(>chl1l of lhe webSIte anc any other CO<1!$nt mark!lll8S not Ill.ltiJect to trus Llml!ed License 

on the websAe, provldea you {Ij pro\lj(.le me ServlCes c"m,mt as 11 appsaro ofllhe 23an(lMe wens'le w'th no c'1a<1ges ,nc!udmg ow: not 

limited to presMHng selections wn,ell m'gnt tand 10 mSrt!pm~eN the substance at 1he Serv!l::es o::mlent, (Ii) indude the folloWing att'ibuHon 

0'1 the fust page of any mMffi1a:s you d,SlMute· tl :<3andMR Inc. 2008·2010, Ali nghls rsse,v'Iy.I, dislrlbu:ed pursuant to a liffilted iJcense 

'from 23andMe. (11<) agroo yo!.> have no n9hlle oller anyDniol else any funher nghl with resp£>C( to ttl,s SaMce$ content ASide lrom ihe 

LlIrnled LIcense pfOlnded 11'1 thiS parai,lraph.. you may not mo~f)r, rent. lease, ioon. sell, olstribute or {'.reate del'l.'ahve WOrKs wset:l on th;$ 

Services content (e~i"Ier In wtdc or ,I'; part) unles.s you i1ave De"" lIpecffical'y told that YOli IT1ay do 50 by 2:3andMe or by the owners of t.'1at 

C(mten: Iflasepao;;leagreemen.! 

10, Customer Con duet - Unlllwful and Prohibited Us" 

As a cendlbol') of I'tJut use ef (!)e Serv,oos. yoo warrant to 23anoMe that you W1i' nOlI.$!l tMe Sec-.1ces for any purpose that.s L.'n'awfu: Of 

proh'biteC Py Ihe:>e terms. ·::.:mdIIlOfls. ornotlces y~ rruJ,' rot use Ihe ServfCeSli'1 any lTliln'1er 1MI couJd damage, (::.sabie. O'Jert:lurden, Of 

Imp,.,; tr!6 Ser.llc;oE or Inter1elew'lh an~ C>ther party'S use and erljoymen! of tM Sev.ces 'Iou may not obtall"l 0( <.ltter:'1pt \ootl1i1!l'1 afly 

malenais or lnlO!t1'll'ltJM thr:;.ugl'1 any means not intenllOnall) maO!;! <Ivai/able or omVided for ~hl'Ougr: the SeNiCSs FI.JrtTu:'TI1ore you a~tee 

not to <.is!! Ll)e Serv;t'.<lslo (1)up!oao, post, email. or olhsrw,se t<ansm!t any malenai thaI ,$ der:;;gatol"i. defamatory. obscene, <')I' offenSI\le. 

rel'9lo<.r.> or po!i\'cai behets or other slaMo'~y proteaeO status, (2) Impersonat1!l any person or 

en:.:)', incl~ng. but not IlffilW;C to, OI())lOM sffiloate-:l WIti' 23<lndMe. or 11l:se!y stale or otherwise mlsrepresem your affiliation Wllh a person or 

arMy, (3) add your own h~,";:)eIS forge tleaEl8fS, o· otheN-'lse manIPUlate ,(!cntillers In order!o diSgUise the ongln o! any oomen! trl'lrlSmitted 

(l"ln:;ug,'1 tile $erJI::e. I") ·stal~." 0' otncrw,se harass another; (5) upload, post. emal:. Of OP'I&rw,Ul tra!'l~m'l any conten! thaI you co rtJ\ ha~ a 

Ilgm to transml( ur;\1er aoy law or w>aer contractual 0; fiduoary relallOll5rli?s (such as Wls,de mfO'rnatIOl'l, propnetwy and confidential 

'nfarmal.lol1 i,;,amed or disclosed as part if, empioyment (e:aliorts>ips or lV1d~r Il::Jndl$cK1sufe agteemeni5): (6) download a;ry llle posted by 

!In{)theru$t¥ (f."the $eNloe ttJili you know, Of reason1iltlly should know. caMO! tC;lalty be dlslnOu\ed In such manner: {7} uplOad. post email 

or o~herwlse t'Smmlt an} rornef'l! that mfnfl{¥;!S any patef1l tractemari<:, t"ode secret copyngh~, or oth€f propnetary righ1.5 ("Rlghts<) of 

~sm:lMc or any Oa1!~f P8l'1y. 18) harm rnnors I:" any way (9; adve'1lsc or or.~ to set! 0' buy ani' goods or s~r;es l(lr any bUSiness 

pu~))Osc. uniess such area spi)Coll(;alty allows 5uch messages. (iO; IP,.Jlo.aa, POSI emaH or olnerW'se tmnS!'!1i! $I'1y unsoliCited or 

vna,rthor.ze<l'l(lve'tisl'1g. prDmo!,anal materialS, -!lIfl~ mar," ·'Spatn.- "cna'l'lletWrs," -pyrame:: schemes" Of 8,'T<f olhertorm ()! sollcjlalio>\ 

excep! In :hostliireas thai art' des'9!'13led fO( Such purpose Wd only 10 the exte'1'l suc/1 content.s acilnOll<:ed by law. (11) up\oad_ post 

email.orothel.\Of!SeL..MSffirranymatena!tha!containss~<.I"evlruSE!$oranyo:tlercol...!putercode.filel>. Of programs designwlO mterf"J(::t, 

uestrey. or hmllt/1e II.:ncho..-,ai't)i fJ/ ani' ('.omplJ!er software or har<1wace O! lelllCOmmuflicallOnS B:q\liprnent, (12) interfere With or (1 srup! lhe 

Ser'lllC& Of servers I)" oe!worns COI"if,ecte<l to u-,e SefVjal, or !:1I$OPey any re(lU'remcnIS procedures, po!,cle5 or mgulat.on5 It networ\(!<. 

co;rme:cted lottie Ser\llCe. p31 V10fate !!lese Terms alServlce. any woo of CQI'ld<JCI oro\herguldehneswhlt::h may be app!i~able lor .my 

par/,CUlar "ron of the SC<'VlW c( 1,.,,,,,, Q.,.m commun;e«ted to Y"U hy ""yon", atf'II,,,ted wit') 2~ndM", or (VI) ml:enllofl<)!:y 0' urH"te'1.'Q"aUy 

VIOlate any appli::able local. s!me nat'onai. or inlemaooMllaw, or any regulaliCl"1s tllMng!he fi"lrce at law 

You acknowiedge and agree that you are soleI)! responsible IQr <ano that 23ar'ldMe has r.o tespon~Fb11lty to you ¢( to any tr"rd par'y lor) an-y 

txeat;ll of your Obligations "fi:ler t'1(l TOS a:-:d ior tt1e consequences. (lnCi.ldmg any 10:55 0; damage which 23andMe may suffer) ef any s ... ::h 

praaCl'l Ifl case of breach of Sl'Jy Dr.e of L'1ese agr~m1')n!$ :.'3arniMe ha~ Itte nght to SI)$pty,;d 0< ~e;-;Mm!e ywr accou.'"It and refuse a"Y an;J 

$1: Cl.>rrent Of h.lture use 01 the Se"",::;es (or sr.y pOitiol1 thefli'oJ) ana you wili delend an;;! 'm,h"r:mify 23ai1dMe <¥l!:! Its affiilates ag!l!flSl 8"ly 

liat>!lrty costs. ()( da.'nages aflslng oo~ of t ... e breac.h« the rop'%enlalion 

If y:J\J ~1::l1ate (he {e""[l'~., of thiS SeC1:0'1 andlQr ::'3;11I"ltlMe has a reasMab:e ground to Sl>5~eC! tI'.a' you have viola!ed the lellTls r:f this Se:;liCl:'l 

23a"i;tMe ~8S the "\11: to suspend Of termlnale your aCCCU"lt and 'efulI~ afly 1I."ld ali o;r,en! Of futlJre USB 01 tt~ Semce (or any ;:OO'1JOIl 

ther;;;of) 

11. Export Contro~ an~ Applicat;te Laws imd Resutatlons 

RecognU:'I):;j the global nature o· 11)(' lnttlf'lel you O!g(ee to ::J.lmply WI~'1 alllo:;a1 fUies legardWlg onlm.e condUcl aM a::ceptab!e content 

Speclf,cally, you agree ') that prclIKllng your &le IS not sUbJect 10 any expOi1 ban orres!rcl'on In the CCl,ln!!)t in ""h,t,") you res.fcle. 2) thal 

your sampl€ <Ind aata may be !r;;l(lsferred an&Of processed oU(31de the country In whicl1 yo" '!iSlde. and 3) tt'Jat you Will comply Wlt!l OIl! 

appfcable laws ~Qardlr'19 i."Ie trar·smlSSIM ollerJ1nlca! dBta exported trom the unl!e!.! States: 0; the country from whim yOll access 

23ancfMa'$Se:'l/i::;ecscrWfl€; 

12, Material POllted Through The- ServIce 

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Terms of Service - 23andMe Page 5 of8 

23andMe will not, at all times control any c~ the ;JWf Cement )Xl$1e\:! "Ia t'1e Serv,ce and, as. suer: does ntl! guaran!~ IMs w-.. wracy 

Integmy, O!'quaWyof such non·23andMe content Yow understand that by usmg t'll'l Servlee-~. ~OU may be exposed to CtIrltent that IS 

offensive, .miecenl, <>~ objectionable Undel110 CJ!'O.!msla~s wlil 23andM~ be looa m any way lor any 1'lO!'i-23andMe conooflL !f1C!l.Idlng. 

but not hmitect to, "Dy errws 0, omiSSIons In any sud'; conlent, or for any lo;;S or damage of 8f1y klo'ld mcur-ed as s resutt of me I.l$e of <\'I'IY 

such C{)nt!H1t postoo, ermMM or ot"erwl~e tranSl1\ltl1'ld \o'!;<l the $srv,ee.s 

Yw acKnowledge 1,'1a123andMe and Its dE15!gnees shall ha"e the right (hul 110t the obllgatJol'1} In therr sole discre\Jor, \0 pro·SCI'aeTI. reVISW, 

filler. rT)()cify, refu~e. or mOlfe any conlem lhat IS available vm the Sel'Vices Without hmiting tile lof09Oji'\g. 2'3andMe ana !t!> deSignees shaU 

have the nght \0 remove any content thai VIOlates the TOS or f!l d .. emM by 23endM~. In '\5 sale dl~t\On to be otherwIse objectK)nabie: 

You acknowledge and agree that yOU tll",St evah,J;H\!, aXl bear ali nS!(5 ass-ooated w,;h, the use of any content. ii"1dudmg any rehanc;e o,'1lhe 

accuracy, COmpJ(!!et"l6$S. or usefulness. 01 suct"i conlMI 

13. Material Provided til 23andMe. Your Proprietary Rights. 

User Content. 2Ja:ldMe does no> ci3l'l"l ownersnlp of the User Coman: you prt.>Vld~ 10 23andMe {IilCludJng feedbac~ and s<.IQgesllonsj or 

post. upi(")8.;i. inout, or submit to t'1e Service. Unless. othervlISe Specified you i"l3U!m coDynght an::! any other ngl11s you alrnady !""".oId over 

User Cement that )1Ou Ct"ll:ate atl(i submit, DOSI. or display on 01 through the SetV1ces Ho~ver by Mbmitling. POS'JI1g. Of ehsplaYl11g User 

Coment, you give 23andMe. Its aff>I<a!eo companliOlS, subhcensees (:nCludl'lg but no! l,ml\e<l to sublicensees w~,o ,,\lad themselves 0111'9 

limited lJoonse granled In SecllM 9 abO\le) ano Sl.ICOOSSM at":! a$!;.1gf"ls a perpstlJal ~'"l'E'\tOcaole. woi1Owlde. royaity"!ree. an{! OOf"l' 

tMt thiS jiC{!ttSa inCludes a fight for 23andMe \0 make such USer Content ava!l!lble 10 other compawel>, orgamzallo'1$., or individuals wlth 

whom 23andMe has re/1J.tlDnships, and In use S'..IC!1 User Comerl m COfli1ecllWl With the provb"10n or L~ote serV1CCS 

Vou understand that 23andMe. in periormiC!9 the required technical steps to pl"O'JtOO tile SBl"Vices to OI..I( users, may taj tnlnsmrt or distnbute 

your US9' Content (NIl' val10IJS public networns and In vanous ma{lla, and (b) make such changes to your content as all! necessary to 

conform and adapt mal CCn!(!nt to tim !echnlCa) reqUirements 01 cormectmg netwms, de\ll<;eS, st>IVH:es. Of med18. You acknowledge and 

agree t."!el this license sMa!; penni\ 233.'1dMe to lake Ihese eclEo11s You repr~sen\ and warrenl to 23anoMe thaI you have all the fight!> 

POWl!f. and authotl1' necessary to grant ~le above !io.wso 

Genetil;: CIIOdiOf' self.Reported Information. D,sciClsure of mtilV'dual·ievel Genehc and/or Self-Reporter:! lnfOfl"l'lat,on to lturd parnes v.~;; M1 

occur w:thowt expllci! (:onS!l";1t uflless reQUired by law. NOte th1l! 231lndMe cannol oontml any further OlSlrlCH.ffiOtl of GOf\l!!trc and/or Sel/-

Reponed in(nrmanon that you sl>.are publicly on the 23andMe websdo '{¢<J adlr.owled;e al1d agre-e thaI you are responsible ror protecting 

and enforemQ those ngots and that 23andMe has:"1o Clbltgahof\ Kl do so on yo",r oohalf 

Your saJ"la sample om::.e submitted to and analyzed by us, IS processed in an lITE,w-ersltla manner and caMO! be returned te you See our 

Wailrei' of Property Rights, AS StalO!"d above. you understarld tr.at by P'tlVldI'1g any sam~e. t1avlng your Genellc Informallon pr"cessed, 

ac::esslng you, GenetIC mlorna!lon. or prOVIding Self·Reported h"lfomiifhOl'l. you acqi.Jlfa no n9h\!!; in ar>y research or =~131 products 

that mey De deyelopeo: by 23andMe or ,ts collaborating ;:.artrlers You Spe~fj:;al~ l.mderstanO that y\Xl Will flO! receHte compensation for ilny 

ressarch or COmmel'Clal p-odU<"lS Il"1<ll mclude 0" result from your GenetIC l.'ifo~tlon at Sef,·Reportro Information 

14.!ndemr"llty 

If you haye $ubn,jled a sakI/a samplil or otherwise prl..MOed your rmn GenetiC Irltormatlon, yoo wm deiend aM h¢lC! Ilarmles.s 23andMe. !;S 

employees, contractors, successors and assigns from any Ilabli':y ansing OUI of the use or o,sclo$ure of any If'lIoonatiOn obtameo from 

genotyplng YOUt sa!wt! sample andlm analYZing your G~l"lehC InfoITl'l81,on. WhlC,1 IS (l,sclos!Kj to ~ou co!"'.l)lsteni With our Pn¥aq Stateme'lt or 

resuhs from any thlrO-part)' add-ons to \OoJs we proV'lde in i100Jt/Ol1, if you choos€'!O provide YO',)f Genehc arId/or Self·Reporteo InlCfm3!iOfl 

to !htrd part,es _ wheth"" 'nd''''oduals to whom )'OU rile'hl;;!t" acces~, w(..,m,ortalt'l or madv<lrt~mUy. or te thIrd p;;tmas IOf Glagoo:;l,C or other 

purpos,es·)'oo agree to defend and hold harmles.s 23anaMe. Its employees conl"3etors. S.U~€5S0:'S. and 8ss:gns from any and at! haci")· 

anslng from sue,,", disclosure 0' U5l; of your Genelic and/or Self·Reportee Ifl/OrrMtlCr'I 

15. No Resale of SeNice 

01l,ertMI"'I fl\.lrsuantlo the \arms of the I..H1MeC Ucetlse In Se:.-1io'1 9 of th,s TOS Of unless "ther.vlse agreed m a separate agreement 

between yow arn.l23ar()Me.YO'J agree no~ 10 (iISPi<Jy. dlStribWta.llc:ense. pariorm pUblISh. reproduce duplicate, copy. create der\\latve 

works trom modify. sell, rasell 1O:>:plo<\ tranSfer, or transmit fO( any commercia! purposes all or any ool1lon Of t!"le- ServICE!. use 01 tna 

Servicc,oraCOO$S10the $efVjC$ 

16. General PractiCes Re~rct;ng Use iii:"!::! $tof:llge 

YOI.l acknowle:::ge tha123andM€ may eSlllbltsh ge'lera1 practices. <lI"lG limits. concerning !.Is£< of th<! Se.-vores< Including wl\noullimi:atlol'l tl1e 

maximum n\lm~r of days ihat ::>erSOf\il! in/ormation and ServlC\l'S conlen! Wlll be rellMed by II"!!! Service, l.'lc m3XImum dIsk space thai will 

00 aHotled on 23arn1Me's seevers en 'lOt./! behalf, and the maximum number Of tomes (and the max,mum dura!,on 'Of y,·h.el'i) you may BcceSS 

lhe Serw.:es!I"! a giver. pcmx: 0: llme YOlJ acknOWIMge and agree tom! 23andMe hal> flO 'O!sponslb!ilty Of ilabi!l\y for the o€le!lon of or failure 

Ie store illrl)' massages. o~her oommoJ!"I!cahons. Of other content mainl<Med C' tf" .. nsm,~ed by me SeMC8S, Q!" for the loss o! Genetlc 

Inlo'l"natlOn due !o maitunc(,on Ol oestrt."C!Jon of data S!1fVS"S or other calastrophlc evenlS You fur!het acknowledge l1"la~ 23andMe reserves 

e"lflng.'1!toct"iangathese9enera'prnC\lcasandJimlts;nltssoladlsc.'"e~on. 

17. ModificatJonstc$ervlce 

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23i'l'ldMtl rCSCI\lI,)£ the ngni $I ai'll' limli:' and from lime Ie j~ 10 moo,!)! Y discontinue. temoorarily or permaoo:'1t:y. tile SeMC('!S (or any pall 

l~ereof} Wltl! 00 "",Inout notice You aClmnwledge ii'l':d agree that 23an(!Me $!1$11 nOl !)e Hable :0 you IX to any Ih,rd part)' lot :any mO:lllicallOft 

su:.-pensJOc,.ord,gcO(l11(luan:::.eO'!he5erYiCE$ 

T'w Sortwllre Ina' ym..! use m8y !rorr. In:e 10 Nne au\o'-',a!'ca1fy oowr:load and Irlslail updates from 23.al"JdMe Trwsc updales arB des;gned lc 

Improve en;lan~, and lurther jevelo? Ihe Se;'VIces <1:;0' may lake l!":e fc;m of bug r;l(es. enhancrn.l functions, new sol'tw-arw modules "FlO 

completely new vel'Slons YOIl agree to rece1ve SUCh vl'lOates (and perm,! 23aN::lM~ to d9flver t'Wse:o yo .. ) as part of your use Cll'"e 

ServiCes 

¥x acxr:c....lt>cge !hal i'3and~e may offer d.f(~lHII'I: 0' aoclk>nal ,ec,"m::)/09',es to coliecl an!1lw If'It€'fPtel Gene\Jc in!ormat;on 1'\ ttl!':' fU!iJ!J" and 

thai 'Jour 'nl~ja: {:><J,cr.ase of :'J'le Se'V1ce ooes 'lot tmmle yOJ.: to <Jr')Y "'ffenm: Of additlonai techr.olO{jH;!s fo' coilec\lo', 'Or ,nlerp'1l1a\lcf' if, you' 

Ge"l<'lilC il'ltorl'rHliH)f1 WllhOUl fee, and Ina! yow Wlll !,,,,w 10 pay addlhonal fees!t1 order to have 'jour GenetIC i)1formalJor'j coHeclect. processed. 

aotllor mterprtllej WS!"lg any ;utu<-e 0' ad1,bon;'l1 t9cnn(llDgICS 

1$. ierminabon 

if yC',) wal)! 10 leIT!11nate your legal agreerneflt wnh 23amfME\ you may do so by no~fyjng 23landMe 31 an~ time H'l Wfl\lng wh1Ct: wal' enta,1 

closmg your a<;:COU!'lts for ali of 1:"1e Servlce-s HH)( you use I(OUf!jOUce should be senl, 1'1 Wtlj,r.g, to 23andMe's address, W'1Jch ,s setout;;] 

!tlet:egIOr'll"goi the TQS 

23a.'KIM~ may at im} b;'\"!l!O 11!rmmale lIS legal agcee.'l"!e'l! With yo" i.al'1c in OO-"!lIrlCllDl'1 t~rewlt'l your pas:o .... oro an:::' a=unt($}) II {' ~ you 

ha~ breac.f)e::f ;;lny pf".);'!s!on o! Ine ros ior have acted 111 manner which shows that you d:J n~t Intend to, or a~ "nabla to comply w,tt1, me 

provisions of t~ TOS;. (2:) 23andMe '5 roquired to de so by law {for e;o;ample. where til", Clr-OVl$IOn Oi tnt!' ServlCe$ to yot: !$, 0( becomes, 

unlawf,li). P: ttle partrll;!{ w,:h wh0'l'123anOMe at'ferad iM Services to you has lemlL''!"lec its relationship w!lh 2JandMe Of cea!\e>!:: tc o.'Ier 

the Sef'.Jices tc yD-U. (4) Z:mndMe IS \rn(lSlt,e\i'\!ng to (lQ iDFlger pt'O\l1omg t'le Sel'VI~$10 '-'Sats 10 1M!? country or slate In 'N"Hen you roSlde or 

feam wil,ch yo;; use tM .. SeoNIC8J; or (5~ tt1~ pr005!(l": a'I'le 5etrvte!> (0 yOlo> by 23ard~J,e 'S. In Z3anctMe ~ ODlnrOi'l oolol1ger ::.ommerc:aHy 

VIable 

,4."1,! SUSpeC1M 1ml"Kh~an!. abus,ye, Of illegal aClwUy tnat may De gl{lWflds lor tem1ln;>\lon Of YOi.lr \.ISe if, me Sel\l>C€s may De refeired t,'» 

appmpnate )<IY>' eniUrce<nem 3Wt1onMlS You aCkMwlc:oge and agree t'1a! 23andMe shall no: he l,atl1e to yOi.! or any t.'1lrd party to· (in'! 

tBm'Hnahonofyo..,.racce:sstolheSeI"ViCes 

VI'M!'! tM rO$ enroe to an end, all or the legal nghB, obligati-.:ms. and habiiilie$1!ta! yow and ::JilrldMe have oene!!ted lwm. been scJb)ect 10 

(or wh~h h<lve accrt.:ad OV{lf lim!,> while the TOS have OOM In fo'cu) <x whIch are expressed 10 conttnue !ndefifllteljl, shall 00 Wl3ffe<:loo by 

tilis cessaliM, and It:e provmlo".s of sections 1 {Def,nI(POc'1S}, 2.(P.creplilT1{;e of Termsj: :) (PrereqUiSiteS). 4.(Ocsct.plJorl of tnc $e<V1ces), 5. 

(R,sks and Cor:s,dernhons ~ega"dl"19 23<'1ndMe Sel'\.~ces) e (Rer>reserl\aUCf)s) 7 (A~ul1l e'eal!Orl, Customer ACCOUrlt Password-am:! 

Se<:unty Obligat,ons) 8. (23a'XlMe Pnvacy Statemer:tj, 10 (CUSlo:ner C¢n(/uct· ,J"1la",1\Jj anc Prollitl!(ed Use). 11 (Exoort Corwol and 

Appi!C$le La.v$ aM Regu!atIO-"'lS) 12 (Materia' Posled through tM Sl¥l'Ice), 13.(MaIE!m:lI DroVH:!ed 10 23anaMe - Yo..,r Propnetary Rights), 

14 (:rdemnrty); ;~ !No resale of SeNlceS),18 {Terr.l'l'lallO":}. lS.(SufI'IVal of Terrns), 2".J {O;:al!r)gs Wlth !n19ffl".;!t:on Providers arw UslOC 

Rasol1fC/(lS). 2~.(f4ypm'nks ilf)C 131l:f!:JMe Webs'te), 22. (23an('IMe ProP'lat&y >;:lgr,ts\ Z3 (DISCLAIMER Of WAq~ANnES): 24 

{lJMiTATION OF '..iABILiTY\, 25 ,:Now;el 2;.{Vlol~or or S"'$p12cl1'd VIOM,O-"\ of TOS). and 2a (Mlscenane~u$) 5~ali com'n~ 10 apo'} 10 

suS.nghtfl ob11g<lttO'1S <lrld!,acdlH€5IfKlellr!1le1y 

YOU" C>:)rrellpond,mce 01 O<.lsr.less deaill'lgs w,t'1·0r NrttClpatlQrl ('l promc\lQrlS of.,nftXm<ltron pr'tIVlders. vendors. a~or reSOl)ro$! found on 

or 1h~'1 ~~" Service In<:iLld''"-J payment and delivery of relatec goods 0< sen;;ces. and :;tOy other terms, coodwO!':s. W81Tl:>tllies. ,); 

-ep'lS'senta:,,:::>ns a:;,socJaWd "'.Ii' $UC~' oeahngs, ar{l ~0Je]~ be~w, rO'!; ano sue." ,;)1crmalu;>n provioor Of resCc.,r~ You acknCW~dgB a'>d 

agree tr,at 23an:lMe shall "ot be fflsp:rns,ble or I,abl& for any loss or di.W!'(lge of any sort mcurre<:J 111> th!'! result 01 (1'1.'1 S'-len dealingS or as 

t.'lelUsuli<JIth&pre5,,~~ofS"C'-j»iC'i11atiOl'lpro\l1jerorre$ourcesOfllheSer\Ilce 

21. H)'perlinks aod lhe 2lllntlMe Website 

Tre Se'\llce prolllde3, and lIwd partlQ5, may p!'Oy,(j€, !Inks!::; Cl.,'ler !\'t~s and resources. on me IflIi?:met 8ecaus.& 2:Js'ldMs has rY.) t.on~'O· 

cv,..r sv<;;... M"", <It'd f"~OW"'''''$ yeu acknowledge a",d .ageee that ;23andN<<1 '$ '1Cl respans'bl", ror t~e 11lVR,lab,I,'Y of suo::h external s,tes 0' 

8ny damage- (}r J::;S$ caused or al.eged to be caused ~ or jr co,"nec~oo W,ltl use Of or re"l'll1C<' on any Stich eol'llenl goods. or e,erv'c.cs 

available if! o· In'''ugl1 <lOy sw:;il h~peri""k,!:l'Cl s,te Q!" resou'ce 

You aCl(rlowIW!;j1l) <lnd agree !I<al ;:-J~dM~ (or t3an<.l~,\e's licensors, :;IS appj'cable) tM'n ali legal ng'1t, litle, ana rnte'eSlifl and Ie the 

Services, 'rlell .• eMg ar;y m:i!I'cctUi!l property ogh!$ which SUDsISt ill the Scrwoos (whalhs! t-ose nghts happen Ie pe r!?9lstered 0, not <Yl(j 

W:1e'e\ler m!he w;y;(l ll'l-:>Sltl nghlS ma,' exist) You f .. II'1her acknow!",~e t~.<'l1 me Servl>:ct rn<'ly cents,r, m!ormatlC~ wh,eh IS desjg'1<\!l,"j 

co:1fide"l!la! by 23?nclMr; a"":;: 1'.a\ ~~ soh,,11 not Jj sClos1? $'-"f" mflnnallOI) ""dlx>w! 23andMe spoor wntlerl t;J.'<ser:l 

You furt"€' aC";:<0Wlecge and agree that the SerYlce:; and a"y nec£!ss<lT'1 software used In conf1acl,on with the $er..ices ~"Softw$fe"l contai'1 

proonlllary and corof,(!e.-;:,aI11/0rm<ltOf\ th"a! IS pro!ected 0)' applicable Intei!cclua! properw ana olM, laws You further aci,now~dg~ a'1o 

ag"ee !hat !i1kYrni'Mm presemEXl 1<1 yO\J lhrnugh ltw Se.'VIccs O~ spoosors:s P'Otet!Cd by oopyngnts. ltademl'!li<.s. serVoce meoil:s, paten~s. Of 

olher propnela') n-gh(s ".-1::J laws Except <IS &tpreSSly a"t,')onzed by 23.a;Jt!Me )'0;; agrl.'e"lOt to-and 110110 peITl1ll anyone "Ise lo-mo::Jr'y 

rerlt. lease, loan. 51>11. dls1r't):.lle or coeate nen"3t<ve W'Jr1<S or. reverse engmeer decomp,le or ct"lerW!$e anemet ~c e~!racl the sou'ce :;::.de 

Of t"leServ,ccs (')" Software Of aoy P3rt thC<BO!,!fl who>e Of i;j part SottwOlte ,f al1y. ~":-<l: 15 mooe aW.iI!aDle tc t1Oo1i"lload from the SerJlce~ 

llXCb(l1r19 software that may be made available by end-users tl1roUdh th€ SerVICBS. ,S 1M copyng~)ted work of 23andMe and/or Its s;"po:'ccs 

YOl;" use 0' t"e $oftwe,e 1S OOlfflmm! by L".e terrN, or tne end US$'" h:erse a;:reement d <my. wtuch accompames Of '5 incluOed 'Hlth lhe 

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Terms of Service - 23andMe Page 7 of8 

Software ("License Agr<ref1'lf!nl"i. You rnay rlOlIrn;\all or uw any Son-""sre that lS a~mpan!ed 01 or mcl,,,,des .. L,cars$£ Agreemeru unless 

you flr:>1 agree 10 the: Licel'lSG Ag~me."1t rorms 

23a!1dMe, inc, 2&\ndMe. IlJ'l\l other 2$3naMe logas and prodl.lc! IlnO S€tvlt:e I'\£!.mes are trlldemal'l<:s of 23andMe <Ind these m;;t!l<r. logeHwr 

WitI'> any O~'lef 23BndMe traoe namas, service marks, logOS. d{)m~t. ni1lffies <InC! other dis!irlC!ille orand features.are tM "2:~ndMe Marks" 

U:'lfe.ss you have agree<:! otherwiw In wntmg wIth 23andMe. othar than through 1:"1(> Ur:111ed UcerlSC In Sec'dOn 9. not'm'lQ If: t!'le ros gNeS 

~o ... a ng!)! to use ;;iny 23alldMe Ma;i(s a'Kiyov <.ig'ee net to dl$play, ::yuse 1'1 flt1l' manner. 23endMgMarks 

YOu agree Iroat Y'>U shall not ml'!'lOVI'l. Clbscum. or aller ant oropnetary rights notices i1rlClucmg copyngtll aM track mal1> notices) lhat may 

be affixed to Of contamed w,thln t,'le ServiceS 

Unless you have been expressly authorized!o ~o so in wl'ltlng by 23andMe., you a~(!t' mal in uSing tha Services, you w~1 net use any trade 

ma;1(, $(!!V1ce ma:*., lr""de name, logo of arYj' company or org,!n'Ullton m a way ~'1at IS 11\.:e!y Of Ifllerldea to cause com'lSlOn SbOUlI!W owner 

Of au\honzed use' of .wen maffis, names, or lOgoS 

For any Soitware not aCCo."1pll!'\io)(l by u license A9f&ement 23,andMe gr<;lnls you a persona!. oon-!ransferat,!e, and .1or..e:.:dusive 1l9hl and 

lICense, to use the ObJed code aflt! Sottwwe-Orl a stngle computer ym.; may not (ana may nol aUow any li1lrC pa~ to} copy, mool~Y_ create 

a dMva!lvtl WQ!')I: of. re"Eln;t.l engmeer, reverse assemb!e. Of OlherwlS!) attempt to discover any source C<.Xle, seli, assign, subhcense. grant a 

security interesl in, or ot'1eIWISe transfer any ligNin the Software unless :!"lfS IS e~ress!y pe(tl1'tted or reQUlr~d by law. or <.:nJe~~$ yo" have 

"""M'. ,,.',,,,,, ThiS license IS for the sole P!.Jrpo$eo d. enabi!ng you to use and enJo} the 

mcludw.g (WltholJt ~mIUlllon) lor 'he P!,H'PCM'! of obtainmg unauthorized accass 

Ii) the Serw;;e. YOu agroe \'lo! to access the ServICe by allY means other than through the m\eneca ([,at is po'O\llQl;lO Dy Z;!andMe lor use m 

8cceS:l,11".glheSeMce Arly rights notexprossly grnnts() herBt('; areres»Jved 

23,OIS(;iaimerofW-ItfTantles 

YOU EXPRESSLY ACKNOVIlLEDGE AND AGREE THAT (1) YOUR USE OF THE SERVICES ARE AT YOUR SOLE RiSK. iKE 

SERVICES ARE PROVIDED ON AN ~AS is'' AND-AS AVAILABLE" S4SiS 23ANDME EXPRESSLY D!SClAIMS JI.LL WARRANTIES OF 

ANY "iND, 'AlHETHER EXPRESS OR !MPlIED.INCLUDiNG. aur NOT LIMITED TO THE JMPLlEDWARRANTIES OF 

MERCHANTABiLiTY, FITNESS FOR A PARTiCULAR DU;;;POSE. A.NO NON.INFRINGEMENT (2) 23ANDME MAKES NO WARRANTY 

BE ACCURATE OR RELIASLE. (d) THE QUALITY OF t"NY PRQ:JUCTS. SERVlCES. !NFORMA7fON, OR aTf1ER MATERIAL 

PURCHASED OR OBTAINED BY YOU TMROlJGH THE SERVlCES VVllL MEET YOUR SX:PECTATIQN$ANO (e) ANY ERRORS IN THE 

SOFTWARE Wll BE CORRECTED (3.) ANY MATERiAL DOV\'NLOAOED OR OTHERY\1$E 08TAi!-JED THROUGH Trlt;: USE OF THE 

SERVICES IS X>NE AT YOUR OWN D,SC~ET!ON AND RlSl( AND THAT YOU '<\~u. BE SOL ELY RESPONSIBLE FOR ANY DAMAGE 

TO YOuR COMPUTER SYSTEM OR LOSS OF OATA THAT RESULTS FROM THE DOWNLOA.D Of ANY SUCK MATERiAL (4) NO 

"OVICf OR !NFORMAT!ON, 'M-lETHER ORAL OR VllRl7TEN, OBTAlNED BY YOU FROM 23l,NDME OR THROUGH OR fROM THE 

SERVICES SHALL CRE/<. TE ANY WARRANTY NOT EXPRESSLY STATED IN THE TOS. (S) YOl) SHOULD At IA'AYS USE CAUTION 

WriEN GIVlNG OUT ANY PERSONA.lL Y IDEN'fJFYING INFORMAllQN A.SOlJT YOURSELF OR THOSE FO" \'\'rlOM YOt; HAVE 

;..EGAL AUTHORITY 23t..NDME DOES NOl CONTROL OR ENDORSE ANY ACTiONS RESULTING FROM YOUS;: PARTIGIPA TION !N 

THE SERVICES AND, THEREFORE. 23ANDME SPECiF'CALl Y DISCLA1MS A(I.;Y L;AS1UTY wm·! REGARD TO AN'r ACTIONS 

RESULTiNG FROM YOUR PARTICIPATION iN THE SERVlCES 

24. Limllat[:)n ofU;;.Olllty 

'h1THiN THE liMITS ALLOWED 8Y APPL!CABLE LAv\'S YOU Ex:PRESSL Y ACKNOV',\.EOOE ANO AGREE THAT 23ANO!lE SHALl 

NOT BE UA8lE FOR ANY DIRECT.INDlRECT, INCIDENTAL SPE'C!AL. CONSEOl.'€NTIAL. OR EXEMPLA.RY DAMAGES. H\'CLUDING 

BUT NOT LIMITED TO, DAMAGES FOR LOSS OF PROFITS. GOOD\t.1LL. USE DATA OR OTHER INTANGIBLE LOSSES (EVEN IF 

23ANDrlE Ht,S BEEN A.DVlSED OFTliE POSSI8111TY OF SUCH DAMAGES) RESULTING FROM' {a) THE USE OR THE INA8IUT>' TO 

USE THE SERVICES: (O) ANY ACTION YOU T"KE BASED ON THE INFORMATION YOU ~ECEIVE IN TrlROUG!-I OR FROM THE 

SERVICES. (v) YOuR: FAH.UR£ TO KEEP YOUR: PA$S\o\CR::: OR ACCOUNT !JETAILS SECt:RE AND CONFIDENTIAl.. (0) THE COST 

OF PROCUREMENT OF SUBSTfTUTE GOODS AND SERVICES RESUL Tl~~G FROM ANY GOODS. DATA, INFORllATION. OR 

SERVICES PURC"lASEDOR OBTAINED OR MESS4Gf.S RECf::1VED OR TRPNSACTIONS ENTERE::> IN10THR-::>~J(~H OR FROM THE 

-:-Y!RD PA1'l'TY ON T'iE SERVICES 

2S.Notic(! 

NollGes to you may be mooe via either .er'\3il or tegular mal!. 23aooMe rI1Jy also. pfOVliJC nO!IC-eS ol chtlflJe5 to the TOS or other lr.a!lers by 

d'o:pltlylflg nollcas (11 hn~$ 10 rlDtlCC$ to you generally Or'l or !hxugn the Sa-vICli* 

OfflOl.li nonces related to thiS TOS must be sellt!o us at 23andMe he 

ATTN General Counsel 

1390 Shorebird Way 

Mountain View. CA 940113 

26. Changes. to lht' Terms CIt Service 

na!)jl'\e 11'"."'Y make changes to the TOS from tJme 10 time \"mei'l lt1ese c"F.(l.<'lgtls are madl!!, 23andMe wi!! make", rn:I\v ropy or t!'le ros 

ava~able ol1;is webSite and any ,ew edctlUoCiallerrns \'>111 be made aval!able 10 you from WI!l1II'l {)~ tlvough. tf\e affe;cjQd S(.~-v(ces 

You 8ckOi7w'eo-;)e 3M ag-o;e that If you US€ the Servlces after Vw Mtc QnwhlCfl\he ~OS mille ch1J"lged. 2Z1anoMewiU Ireat your use as 

acceptanceoJttiewp:jal!;!dTOS 

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Terms of Service 23andMe Page 8 of8 

21. VrolltlOO or Suspected Vlolallol'l 0' T~rm$ of Service 

If you 1/lofafe the tel'F.1S of loose TOS al'ldlClr 73andMe has a reasonable ground iO suspect that you have Violated the \mrns of Ih!!se 70S, 

:t!3ai'ldMe has Ihc 1911\ te swsoenc or lerrrur.ate your accolJnf and rcluse any and all currant or fl.ltura- use oilhe' Set'\<"lGes (or any portJon 

thereof) 

2t!.MIscetlll."lI!'OUS 

a. Entl'e Agreement. The lOS COflSliMe the entire agreement oot\>o'een you and 13andMe and govem your use of !hE' Se!Vlces, 

swpewxtmg ai''!}' pnor agrol.\mo!1ls betwecl'! YOll and 23anqMe O·'"l thiS subject You also may be subject 10 acklltlooai terms and 

COI10monS lMl ma~ apply when you use affiliate S6fVicas, \hJrl:j·pa'ly cunlem, or third-party software 

b App1!cable law;h1d arbitration. Except for any dsputss relating 10 IOteRectual property nghts. o01lgatlOns. or any infnngemen\ Claims, 

any d'sputes willl 2:.\3ndMe ansi:'!9 out of or te!a!lrig to!"Ie AgreemMI ("O;sputl!s") shall be governed by California lOll .... re;ardless ot 

yovr CQlJi1ti) of oog10 or where you .access 23andl,le, and notwithslandmg of any confuds of iaw prindples amj \he UmIGt! Na~OI'\S 

Co.'1veriticm for IN! lnlernatiOMd S~e of Goods. Any D,sputes shall tJ.£! fCSOI~lld by final and bloomg artlitratlon under ttle rules and 

ausptClls o{ the A:ne;1::an A.rtlltrallOO Assoasllo!\ 10 txl i1eld In San "'ranClS;:;C Callfoffi13. m Enghsh, "'"11M a w:1\:ten daclSlOr· stab""", 

legal re"son~'1g Issued oy L"Ie arb!!ralor(s) at either parl~'s ~QUP'S! Md WItt'> ar1:ll1ra'JCI:"1 costs and reas:mabl" dooJmenied altorneys' 

COS-IS of bolh parties 10 b<o borne by tM party that uJlJmately loses EIL'"Ier party may obtain In)U"lc!ive raha! i~hmiriary or perr<l3nenlj 

an~ orUt!!i"S to eompe: arbitration or enforCE! artJi~-al awards In any cotr."1 Of competent Jurisdie-Jon. 

c Wil; ... ~r. T.')e fail"Jre of 23andMe:o $X9fQse or enforce an)' n;lr,t or prOVISion oj 1M lOS SMli not constitule a waj~r of suet> nght or 

proviSIon Jf any prO\'SlOn of lhe TOS IS founc by a court of competent JoosdJcllon to 00 inValid. the- parties ne>lert.'"Ieless agree k'lal me 

C(.Iur. Sohaulel ende&\Ior to 9'va effect te!he parnes' interdio!l$ a~ re-Oected Il1 tne pl"CJ\.<jsion, and 1M other prOVISIOns of ttl6 TOS fllmall1 

mfUi!fDrr...eandeffec1 

d. Term for cause of action. You agr0e !hiiltregardiess of any statule or law \0 the contrnry, any claim Ofcaustl of actio..., arismg out of 

Of ttliatoo to use oi the SaMC8s or !he TOS mlJSt be tHed w1thi!'! one (1) year after such Clilim or cause of Ilc.\!on arose Of!)e: forever 

wm" e Admlssihl!ity of printed version. A p:"inted version of mis agreement and of any notlCS giVen in etectroruc form sr,all be admlsSlble!n 

Judicial or admmJslra!i~ pfOCi1ledlngs based upon or relating 10 trl!$ agreement to t.'le same exlenl arn::l sul.ljecl to the '!>ame ;;;ondl:,ons 

as other Puslnes.s documents and records onglO/illly generated anO" malr'l18,ned '11 printed form 

f. Section titles. The secUOlllil<es In the TOS are fOl" con~emence oJ"~y and t"liIve no legal or comractual effect 

g Severability CI!U5e. !f any ronion of these TOS IS fOund 10 t>e unenlor:::eable. lhe remaining portion wilt rcmam In 11,j11 klrce (lnd 

effec\ 

'l. Amendments. 'l-';e reserve 1M rigtlt \0 modify. supplement or r(!~lace the terms 01 the A:;lrnemet11, effectIVe upor postng al 

www.nar.dMccomornob"'ylngyQl.lotherwlse If you do rot wan! 10 agree 10 c'1anges 10 illa: Ag~n!, yow can termli1ste me 

Agreement al an)' lime per $ee.hon 18 (Termmatlon) 

i Assignment; You may not aSSlgn oroele-gate any r,ghl:S 0' obligal,ons linde' lI'Ie Agraemeffi Any purpoi"teU ass:g;·lmefl! eM 

delegation shaH be meffectlve. We may freely assign Of cje'e.gate ali ngNs aM oblIgations under the Agre-emenl. fully or par'Jalfy 

wJthou! notICe to you We may also suDsi<lute. h)' w"t#i of unil<llela! roval!OI""!, effectl\le l4lon nollce: to you, 23andMe for any l/"vru party 

that 8$$",mes our nghts and obflgations under If'll$ Agrsemen: 

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tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 217 here 78125A.141

Privacy Statement - 23andMe Page 1 of5 

about 23andMe 

100m 23anClMe 

New, 

Core 'liah.le!; 

f'akCyFOf\.!m 

eorporattlnfO 

-

who we are 

_01"""""" 

EdltortalAdviM"s 

SeientffieA<:MsoiyBoan! 

login 

privacy statement 

Summary 

• 238~~ your ptMIcy.23andM$OOet-no{ sell, ieBH, or reotyour~ Pen>onaIlI"IfOrmationwllhoutexpilat 

• We """"" are commitll9(! to prtIIIic!inQ a oocwe, U$8f.a.mtrolled enl!ironment for OIJ( $ftN;ces. 

• This summary provlde$l'IIghlights afourfull PtwacySIa!ement andapp!its to 23i!ndMe's eclleclionancl handling of your PelsotIel 

!nfOtmSbon We eneoumge you tQ read 1M U! Statement 

DefWUon$ 

• a2.3arnl'Me" mean$ 23andM$, mc., wh:ose principal pIe¢C! d buStneS$ is .1390 ShorabII"d way, MounIein VII1JW, CA94043. 

• "23andWe Rneard'J" me8I"I$ tldentmc I'tIS&8It:tl thaf 23andMe performs wilI'Ilhe intent to p!J:!Ush in a peer~~ iM:!entkj'OUmal. 

23arn!\'\I8 R3SMrCh only IJ$8$ Gene\i(; and ~ Inlom'llllJon frOm usm. who have: giv&n COtt$MI acam!Ing to the appIicstII$ 

COf\$$I'\l DoeUl"J1firt ZiandWe ~ actMt!es dO Ml IndlXie RSO 

• "R&D" means ~ and devel:opmenI act!Wi$S pet100ned by 2SaI'IdMe on user data These actMtieS may 1neIUCIe. BImOI'I9 otl'llJl' 

!hirIg$.irtlpto\fingOlJfService:&arn.1/o(otf$Mgf'IBW~$otServlcestoyou;perfotmingqualit:yCQ!ltrola<::Wltles;COI'IductItlg4ata 

8natysislhatmay/eadtoanatorlnClude~izalicnwiUl8th!r<lparty 

• "'SetYiu" 0( "S¢rriCes'"l'Il'&am238l1dMfi&pAXIUCIs. software. ~ andwebsite as aeces.sed from time totime byltle ut$, 

l'egatdte$$ If the use \a II"! CMnectiOrl with an aecount Of not 

WhICt'l ~j lntortnltionwe CoIff1d: 

"Persona! Inforrnatton" i$ infOn'n8l.ion that CIilI'l be used to i<Itn!i1y )'QU, elIher alOM or itt oomblnaUon WIlt! other in1'ormatiofL 23arn:1Me 

colledl$ and storeslhe ~IYPSS of PenronaIltlfonIwUon (500 Tetmsof Service for aM!li5tofrelateddeflflitions}: 

• "Regtstr.tJon Infommk»1" is the Infolmatlon you pnwideabout yourseI:I wt'M!tn ~stering fo;and/or pun::hast'Ig our $e!Vlee$ {&·Il 

name. email, tKkhss, UHf ID and paUWOl'l:!. 8I'Id payment inkImIalionl 

• "Genette InfomuttlOl1ft is infon'l'Iation regarding your genotype {e.\} the As, T$. Cs, and G& II! P"rtlGUIar~ In yourgenome), 

getl$fatedthrtlughpfCC8Salngofyoursallwby23andMeO(byi!$~, 51.lCCe$5QI'S.anaS$Sigtlee!l;0(~proce$N<lby 

al'ltllor contribtlted to 23andMe, 

• "SeIf·Reported InformatlOn"l$ all infOtmatiotl aboutyOUtSelf, !nciudingyour~OOndlkms, other~ intOtTnatiOn, 

persona! lraits, ethnldty, family MIstory. andOlherinft:mnation that you mter into surveys. fon'n5, orftlaturas wNIe Signed In to 'f/JI.Jr 

23arl1:Me account SeU-Repor\ed InfOrmation 1$ incIlJ(!ed In 23er'1dWe R~ only if It has been il'ldijQltad l'or 23andVVe Research 

use on the website ana iryou have Qivt)1l COI'l$enl-ll$ ~ in the applicable ConMnt Oocumeot, 

• "User Content" Is aU il'\fonnatiOn data text...soI'tware, music, aucw. photographs, graphie$. video, messages, orothetmaterialS· 

olfIfJrthan Genetlc!!'Itotrne1ion and Setf~Reported InfOl'l1Wtion· gtI/1&l'at$d by U$etS of23andM1l) Services amf 1mr'lSI\'lil1Bd. wt1ett'Ief 

publ!dy Of prlwtety, 10 Oftl'tfough 23$ndMe. 

• "Web Behavior !nfOnnation" is infOrmaoon on hoWytru use lhe 23andMe website (e.g. bftJwMr type. domains, page yjsw$) coIltCled 

Ulroughlog filM. ooakles, andwebbNcon technOlogy. 

HowW8 use Your fnformat/l)n 

• 23andMe coJIecb Personal ItIformallon ftom you for 8. purposu ~ to ensutfiI the regular ope.raOOn of yotIl" aceount and/or 

availability of our $eNw. The$elncludel amQl\g otherthlngs. ~og you with M$(tI'Vlcm; in'IproVjng our SeMces amtIorOf'fMng 

new producbl or $0fVlces to you: pertormIng quality o,mtrol actMbGl: QI:m\1Uctlng ottwR&O; and, upon yOW' ~tion eonduding 

23an:1\I\Ie ResearCh on Qj$tlD!$. traits. and other conditions 

• We use ReglSll1Ition In'Iofrnatk)ntoenab!eyour~. infmmyouwh$nyourGen81.iClnforrnaliOn IS a~t-O you. ptO'i'We you 

Wlltl CUSl¢met~, manage our SeMces, and authenlk:m yciI.I(wt:bSJte 1liS«S and 1.I&4'IQe. We may $ISO use this information to 

offer yo ... OlherprtXltJdS orMI'YIC$$ or to Invlteyoo topartleipate ftl $pt!IO'ltc l1IaflIiIreh projects 

• VYe m;lly disclose to tI'IittI parUe$, $/\dfOr use in our SeMces, "A~ Genetlc.nd Self-Reported Infommtioo", whiet1 m 

Gooetit; and SQif-Reported InformifliOnthathaS been sll'lppad Of Regslr.lllion Information and ~withd:ata from anumtlefot 

other users sufficieI'It to mioirnl%e tnepOllBlbility-01&XpoWngincli"'d~lnfQrmabon whif* stKIpm~ 5Cien!ifieevi<fetlee. fry-au 

haYe wven -eorment fOf your Genotl¢ and SeI1-Reponed InfoonaUon 10 be um in 23ar\dV!Ie Re&eaM as desCribed in !he uppIicabte 

Consant Docl.ImeoI, we may lndU'le tuef'1 inttrmatlon in ~ Genetic and SeIf-Reported itlformattoo In\etlded to be publiShed 

In petIIr.(lW.ewed sCi«l!!fic journals, ffyou do not g~ o;:o!'I$eI1! for yovr GenetIC and $QIf~ InftlmIiMiOn to be used m23andWe 

R~ we may sliU use yourGenetk; andIor Seff-Reponed InformstJon 10t R&D purpo$h $5 deScfibed aboVe, wNeh may ittdude 

Qlsdol&uro at Aggregale<I GamI~ and Se#-Reported Information to jtm"d.party non-pro\'It and.Ior COIl1!!'IeItial m&afCh partners wtlo wHf 

OOI.pubIIstl!halintormationitlapeer.fe\olewedselentil'lcjoumaJ 

• VIle will never rete_e yourindlYiOua/.l$V8! Geneticand/Qr $elf-RQjXlrtiKIlnformaUon to a!hiro party without asking for and ~ 

yovrexpho!CQrI58fl:I:l.odoto,.un/tS$~t\'yit)W. 

• We U${! web Behalrior infOm'Ia:liOn totnu:k:and: monitoraggregatel>U\i6 ofO\l!"~e, ferRaO, kif quality control, 10 impn;weour 

$ervices.andforto~ad....n!$ingforoutprodW:blancl$$N!(;$S 

• ~ give yOU the abi~ty to mare your Gene'.iC Infommtion with 0\he1" 23andMe customers through '$I'larIf1g ftlll.W'es 

• WeW1MI101cfrsCloMyour~~!nlormaliootOanyihll'tfparty.e:JtCeptmdeflhefo!lowing~ 

PiW1tl&l'S or~ pn::MdI!r${e.g. OU"contl'ad:edgenotypil'lglebofeloty orcreditcardprQCe$SQfS}!J$eanQlo(skntM 

~ m orderto/ll'OVld& you with 23andMe'$ SeNlees 

We ale requireclto do so by law (_the leCl.ion beloW IitIOO "Inf0fm8tion ~ R>!quited By Law"} 

You haw proW:led ~1 cortM1'rt bt us to do SO. 

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tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 218 here 78125A.142

Privacy Statement - 23andMe Page 2 of5 

• CCfltnbubon of PerSOOl'lII111~!D'l Ol!1IU lhan R&g,stral,on inlorm?I!Ofj 15 v01Ul'1ta')' a'ld perm;ssian-oase-d 

Vlihdner to 0;}1;'(' consent fur 23andMe to U$e y=>.ir Genet'c arY.1 Self-Reponed lnformattotl f¢{ ~3anct'M! Resear-.h '$ lJoiunla'Y 

• PjtJvlrlmg SeIP'.eporteo Information l'Wtlv,.}l'I SUf\<e,,'s. forms. or :eah.lf\"lS Iroj'C9ted tor 23al"'dWe ResearCh US'll I~ voll!rllary 

• "'1 your wtlttert '"eq>.lest "Ie ""Ill CIOSO your a~"l As a n.l:;ull, ali Gene/,e InformatfOl'1 will be remoIJef.I from the aCCOlJ'1t <!\t'ld \",;1 no 

i!)llger De iI(,>Cess,tle 231:1NfJ'Jle wlfi (lot use your Genebc ImoC'l'iallol" WI research taking pia<;:>;) starong ~'litty (30) cays al'ter acccur;\ 

closure '/IJe carmot ,etnol<1it Gen!;l"bc irf,c·'ma\lon mat has Pre<JIOUS1y been used lor p!.IchShed researc!'l or shared with eKtemal 

~ollaborators oefor(> accot.nt closure. (See ~'"ie se{."l,Otl Ot!iow trtlQd "'AC(,XlUO\ Ciosur" ard CorrectlOO oj Pe~onai informa\lor"') 

Add,ti<)na:lnfOfITlillti;:m 

• V.Je encDuraJe you to read 231'lI1dMe'~ fwH Pnvacy S:alement 

How to Contact U.s 

PrilJacyAd,1N)iSIfSlot 

23andMe,Inc 

1390ShotePlrct'J'vay 

Mocm!!l:Ir1 ViI",w,CA 94043 

Full Prl:vllcy$tale:rcnt 

23andMa Respects Your Prlvacy 

T!l!S P!'I'I3Cy S!alem~ is Irrt1'l"ld1.'d jQ nalte )'0>.1 aware of ~ we handie YO";' Persona! fnfor.'f\aWfi 'We are ~mm'tted to proilKing yOLi a 

1;e::..II(; ulll'V-tAJr1!loijed en.1Iunmen: for!tw use 01 our Ssnm;:es. .lJ,,' \ha tame :ime, yOu shar1'l resp:>(1$lbiii\)' lor m<lmlainmg prnt<lC)' <InC:: 

forex¥rlpJc, Dy keeping your password sewfS 

We enc-Ou"<lge ~ou to laffllllsri:::& '{ourser! ... ,\11 O'Jr Pnllacy Sta!eMer".t Ouf Coosen! r orm and Terms of Service e)(p;alf\ (r,at by os,ng our 

wens:!e a'"itl ~lgnmg up lor OU' service, you are aJk:,wlng us 10 prOC€'$$-your persona! Infctl1".ation acCOflj)ng 1<> !"<e prOlilSions se! !Olih !fl 

in ll)e CO:..ffil!): of yOu! relations"'ll~ with 23am.!Me. we collect several types m Pers:mar iflkFm~O() Pe:-st>nai Informauon IS !(lformal,M lhiJl 

COwid De USIX! to loentily you. eJ\oor alone Ot m comtw"l8t/o(1 w:lr. ether H'Jfo<m1l1mn. We coll€!d sucl11n/tlrmal,on irorr yOu wheT' 'fClli 

pun:.'>ase OWf S!!Nlces. cre!l:le a perl\onai a=Ul1l. coJYlple\e surveys arK! jorrns. andfcr whMl you corr.mui1;c;3te with:;s o~ requesl 

Persona! Iroon"rJil.tlofl colKlcte<l orlilne COl" be corllbir1ed MIl; Parso'!a! ]nfo:ma\ior; C¢~eC1eo: ONIt!".!) We collect fi¥!r 

pnmary types of Persona! InfOlffia\icn thwugh out Se'Vl~e ar"ld web-Me 

1 "Registration IntormalJon" I~ i'1fo:mannn tna~ we coHect from you when yow pur..nase 0' SIgn up for owr Services EKi.lm~es oj SI~Cli 

JryTOrmatlO!l :nclude l'ourr;ame. credit card ",formauon, biilmg arlC &hloplng wdros.!>es., and contact mform"UOrl. such as s:nM addwss 

2 ··Genetic Information" cons!sls of your goaf)otype. e.g the Ali. Ts, Cs a-.d Gli a: pa'1lcui<y local,ons If) your gen=e Gen~lC 

111lom-.ahon ,s gener",l!ed whefl yow pi.lrchase Z3ar1dM,,'s Serv,C!lt aM you~ sailWi sample 1$ analyzed and processed Of ~ou o:ht):I\'fis.e 

COr"M1Duls or a=ss your Genetic lrf,mm8tlol"l through o:r Services Our inst"1J"::tUYlS for s;1)'"11p;e COlleC'\IOI) and st<oprnent C!ea;ly feql.llre 

at t"le laboratory wIn remove and tl!$card i'.Ir>y iOer"lI(fYlng 'f1klrmatic}r1 [e.g 

pecsonrJe' rncewe !'>e samples fur genol~ili(lg Rece'illng perSDnnm do not perfo-m testing end testing pe'sonnel only l'.::lnc)le S<!r.'Iples 

la::-e!ed With the wmque barCODe Unless y.;w c,')oose 10 Sloce yo.;r Satl1p!e!li the bloDa~ ONA aM saiw<I sa'1".p!es l'!~(, Cie'$lroye<1 a11.er 

I"lcr.nat'o" IS stored Sfr<:Ufeiy 0.'1 <Xlr ~erven •. In" f<lwrirtcry aiso stores YDur Genetlc htO'mlill1= W labeled only ""tn <l sample 

barcode The !atxxatory co ... ,;ju(::ting DN;!. ex!rac\IOI' 8'1d analysis doe$l'\oI. hall€: acc(!ss iO you .. r101me. O\!)C( Regfstretron Information 

0: i3n~ olMr fOe,scM, ImotlTlauon Q'(cept yovr sex WId dale 01 tl,:'t>1 or age. as requH13d byCUA 

3 ··Sell·Reoonea ;nfontl!lionO> I('".eludes InformahOf'") you ;::ro~.dc tC U~. nctudolg but nOlNlll!ed \C ilfo·rnil:io" EOOL.il your dlseilS~ 

CO!\dl!IG'1S (e. 9 ;y~ 2 Diabeles). other he.a!\h.re~ated in/ormation (e 9 puLse ra:!e choles12ro: levels v'sua: :lCV1ty). persona, t"aits 

\$ 9 eye coler, height). I'Ifhnlclty. a@otfarrulyNs\ory,:e g sJrrnlOf, -forrnaUon abo.Jl famlly rr;s:nb$rsj we cc>ifect :hlS w!ormatlon IrOM 

you it and wnc,..· you enler il1e 1"!orm<a~Ofl ;n\o su<veys (orms, OC Jealures w!l.le slgnee! ", lo your acCOllflt Se~S<.ePOflec: lnformato<\.s 

11"Ic!,I11e;J m ?3<'lt1dVve ;(E'Seetr....h oniy If it h25 bee" ,<Y.:i!caleo for 23ar)l1V'.'% Research uS(> Oil the wetw\e ane if you have give" CGn$"m 

4 "Us¢r Cor;tef1:" :$ ali mformation o!/Wf Ihan Gel"ie~c :ntotMaLOfl Of Self-Reported In:O:ma(,on genem!ed b~ user.;. ot 23andMe 

Services and IUII1Smrtled, whel~r p\JcllC!y Of pi1l1altlly 1023aMMe USe' Content <flay inCitJde ct;,l!ll. text. soHware, mUSIC. a<.!diO. 

pMlographs, grap!";C$, video. mes.sages_ OfOlher ffiflter-.aIS For 1l:)(8r.1p1e User Content Includes. POS!5 made 10 !M 22an-:Me 

cOO\t."!l.mity for ... ms Of amaHs to CI.!$1omer S,Jppon' User (onlOO: doo$ f1CIi mclu1e -:;;:,netlC Ihf{)lTf\aho." or S,W.Repotied r'1fc'ma~ 

5 "Web Setunnof Imormatlo!"f' IS mf(}lTr.:.lllOn on how yo.! .;se the 2:)anClMe webSite Ie g hrowser !yp", dO"r,i}'fJS page ",<!wsj COliected 

(ttrc;;gh log files. ('".oo~ies, erK! web be"corl t~:::hnojogy 

We \.ise yO\¥ Re9'$'r<wGl'llnlorrnaNm to aumenlr.,ffie your websile >lISI1S arm 1I5Sge. 10 enable yo;;t purchase: (0 ccmmt!rK.<'I~e WI!" you 

g!m;J{ IT1ir.:cmahon. sennces, and pr:JduCls thaI yO\, have "t';("juested, at.c:o fT18l'lage <,no lnp!"OlI" o"r webs!le sof:ware and Se'_lces We 

mal' ws:) use L>Jls !r;f;onnshOfl to offer you $e"IlU)$ af\lj p;':.ldwcts t'13\ r;.ay be of ,n1e'esllo 10u or m'll!8 yO() to pa:"tIClp$,le·1': "peeinc reseax'1 

https://www.23andme.com/about/privacy/ 11/3012010 
208 


tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 219 here 78125A.143

Privacy Statement - 23andMe Page 3 of5 

prc)e:::'s iA'e gNe you the Op::mnurlll)' 10 opt out of cpt,onl!l, ;0mrrr"n,;.a:K'1~ ""th(;>r lhrcugh our Servn:;e or by ccnto;lC:!>1g ow. ~vil;;y 

At1n!"ustraTo'a'p"~acy@23anOmecor:-l 

We use yOU! G~nelic <!-1D S"IP'Ie;:rort6o lnformallon tv prOVide you w,lh 23anctM:s Sstvic,es CUS!OtnIZe 1t1e user expe'1B'1;:.e. anc enhance 

Ol)T features IF ytlLl allow snanng Gcne~-c aM Self·.Reponect InlormatiOn may 00 -d:t:'>l8jled in elMr users' :-occourrts Sel!·Repo:1ed 

tnfcrmstlofl 1$ UW;;l to custoffilza your user experience. for exsmDle. 01 adjusting (€PC!<1$ or genetic ns~ 10 ac.c:ownl !or your reponed 

t>e'1a~,Ol1' or ('I'Y,(C>.'lmerltat eXpo!,>I.ln:?5 

It and O'liy If you. halle give'1 consent 10 Pil'ltlclpal", 1.'1 23aml\."k Reseal'O~) as descnbed in me applicable c.."<'lsem DOClJl"1'e,,~ Wf: l"1"y 

ndude your Genetic l~formauon and SeM·t\ep'Jf\cO li1forln8NYI n'l:jlc:ated jo~ 2lafldW!l Reseerch use m Aggregaled Ge'leb:: .(Iqj $et(_ 

RIlp¢rleC :"IQ.tmBflOn disClosed to Ihm:! parties lor the pu<pose of ;:!lltlhcaltOr1lr d pear·r$lIlewed SOer\!r!lc journal 23<lrl~W" R-esear.::h IS 

Imet,!jed e, MV<lnce ge<18i:c kr}')wJe<fge alld :0 crel>!e com-'\!"~lal,U.l or 1,!;'IOenal:.e aClivi!l9S (":;)ward me practJcat a:mk:atlo.1s 01 ItN' 

iearOllngto 'J)0,'n,o'CHl.,r:entofhe.althcare 

If yoo do not ~''e yQ<J1 con~an~ 10 p.ll!1IClpatt'- in 23a",,"'VVe Rese"rc;t\. 23andlf,e nay sill, \!'~e yOU" GaneHC ar'ld $l>Il'-RePQrle<:l I"iormauor f::r 

p"rposes s,,::h 11& qJa!:1y controi Of other R&C act'VltiCS. ::;e'le\;c and $elf·Reporl"''' kr'orma!Jon used for such pucpc>se5 ma} i:>€ l<1dlldea lr' 

.e.;;;re:}ll!e(l Ge:1e!,c a"ct Selr·RepoJ\vc Il)format'£l:1 c!sclos,ec Ie !t>lr(i·par1~ res.earch partners who wili not publish the 1.1Iorn-:<I~10fl m 3. peer· 

rl'.'Vlewed s,Jen!:f,;:.purrtai Researcp. partners may rnd<loe C011lINW;ral or nor;.pr~l <>rgaruz.a1!(>ns 1M! CO:1dUCI or SWporl swmtlf'c!med,~,aJ 

rese;l<cl~ 1;,- :::0;)0,,;;: o· S-.lpport me development 01 OnJgs or oe",~es 10 CtagMse, ~edrc(, or treat heaUh col'ldl~OI"~'l 

How We Use User CO.'1tlmt IInc Web Behavior lnlormatton 

Z3a'Y-IMe uses \.1,,81" Conlent to p,<1)1f.{jEl Our ServiceS and H'f'Ipro'<& ~he o~-erall user cl{penence For ~x:am~«<, posts made ~o the nllnQMe 

cOmmw"l!ly iOr'\.lms are publ;cly displayed 10 other ,"sers See Sectl<)'1 n ill the- Term, of SeN!~ lor a 10.:1' desc.'1plIOO Of fOlK righru. ,e:ah:1g to 

UserConten\ 

Web 8ehavlo' !olormaMn i$ ccll«:t\K! through klg files, cookies, anc: wet' be1lCOf1 lec:h"lology dun'll; a vlsl\ to th'" 233ndMe ",~bSlte Wab 

E\ehav,{l' j.1ftl-,.,.,a(Jon is ..;~eO to :mPfo\te our SeNlces and the <.'Jverai us~; expe,ence. 

log FHes. \'Vhen users VIS', oU"wsbslte, 23amlMe g31hers cert<!.r mlO"lT".ahon ButcmS!!c:a!ty BOd st0t8S I\.n log: lile5 Th.s mrorrn;;l!on 

i1(';!;;d€S ''ltemet PrOiOCO! (fP) ado-ess.t's, browser type, Internet Ser'""e :>rolilder, re!'io.'r1!1g!exrr pages, opC'f<:1flng System. dalemme stanp. 

ana c;,ctstreaf.") d~l!a (J e a j,s! cf pag~s 0<" URLs visi:ed). We U$e thl& mkm'lal;o.1, wh,e.'1 'S not <Jesigneclo I<!enl!'] l1'd1vldua! IJsers. to 

;!nal)'ze lraf'dS. :;!dml'llste[ H~ s:te, t~,. USf!r5' Mo .. e,rnents aowcln:::l the Site. ana galler demoQfaphlc int=a(,cn abollt cur user b<,_~e as a 

wl'>o!e V¥e may ,n seme Q;1c..mstanC;es. naM (0 ltlVleW" ::11£ a'l!oma\!<;a~.y ~Dliect!""j tlme II"l c.o?tltl!natlon Wltt;SPec.f<e Reg s:"3! 0:1 

nIDrmv~on:o J(Kmtrty allc l"(1;$o",a Issues for md1Vlc<ml USW5 

C~olllell ThlO 23a'1dMe w~DSite also uses cookies A ('~i€' is a small te~~ f,je 1ha~ is $1(}(ed on;; use"s computer whe>f1 you VI"i; our 

we~s!w or a:1f om!'r website thrOl.Jgh \lovr CCimputer. We "'so both SII%O(X' coo~!es 8:1d persls\enl cook,es tc maw 11 easc€r lor I'm, :0 

n<lvoga:e O.of Site, .mprove the se--•. :ul"l!y of your Pers~f',al !fl!Ofmal!on. enhOln::e the furn:lJond!liy of certain features, and lt71P'"OV!J p."!rfOl"na~ 

T',* cookllH~ We) employ are wscd to enable sec..JrO! ao.::eS$ to yO;,f "XOt"'! ""tiro you are S!gnecd in 10 yowr acco<Jtl; ar.o <lR (miy appl,:;able 

wI1Mm the C()n~(1eo. 01 our website 

A sesSion CODKle e::r,'llrt'-s ~.1 yr:N CiOf,~ YCiur v'OW""". A pet;.ls!e'l: coo;:;" r1!"'Yl<lI[1!i on )'oor han:! -dnv.e fur an e)'1!lnded penod 0: ;l!tle YO;J 

can ro:'lO"" ~"O'sl$!e,.,\ cooki$S by lonow:ng dffW;hv."IS pro ..... aec il' ,,(our ;n!em~t l:m;rwser's "help" flie howe"ecr i! ym: set your browser to 

celed ccok.J!!s yOwf .ab4Hy to uz!! our Sitl)< wd: be s.ignlf,car,Uy ~np(l;,re<'! In pa'1lcwar. yau wiil not be ablt' to aCCC$$ any par! of OUf Site t.'lat 

le>;WfCS a Sign"!;"'! SUCh as yotJr BCCOt..'fft 

Web Beacon!;.. A we-t beacon IS a Clear graphiC ·mage tna: ;$ ,Oi:t':J€C by your I\eb t>rowserwhen i1 accesses a websl:e 3'10 l!13;'e<;OrtlS a 

u~ .. S VlS!l!C "pal1lcul3' wet page 'vYe. Qr thlf(1 part'e$ thal wei(::x "s rna,· place Cooy.les ,and web beacons or. cut "",t:slte. p; our erruHs. 

3.10 ,"" oW' ¥h--ert1s.:men:s "HI' appear 01' other wetl~~es Qr Ir ema"S G.eMt by ct'<flrS mat me"uo", 01;' pr.:.d"ct'll an:: serv'ce$ ""tM o"r 

pefl'i"l.sscn. ';llC p,.>f))Ose of OU' web t>e;:K;Q('IS fs ~Q lil!Pport opers"£lr a' 0,1; wet's,!!:.' an." to off€' arotoNl! p,'OO(.'C~£ and ser<;,ces !hro\iJi'1 

ta:'geted a::lv~rtl$eMe,.,t:;. For e~a-nple. we may liS!'.' b-e;')COI'1S !o <:rele;r'lHw when soneon€ VlCWS a web ooge, CO'<.JI1: ,0' .... r:1aoy 'r1(h:dua:S 

"'5'\ O!.r ,vet;;SO!" atler c~>ci<!"G ~rtls€ments plaCIXi on ot"Ci webs,te:; 0" count !">OW many people have p ... -rcl1as,Old P'odUCls If:)Ill out 

web$,!i< a1:er ",ewm; at" acy-c<uwment we piaom Vvet beacons mal' $1S0 help us deler!'WtJe the ef'iect' .... -eness 01 <If> emaLI C.3moa>gn 

hecause tt-m lxla::;o,"J(j. can wunt t"e number Of uld~vldual$ who Op~fl fin email o· forward rll() Ol'"lom; INfi u~ \tl:s Wee 8eMVlo" In:o<mabOll 

Ie ceNer !l:IJ!or cur m",""kellng to yOtl MC may alsa l'se th,s :dorma'!f(;:O Ie> ~IIStomIZC6' contant 0.') our W(l\}s,t~, enable:\ Sl)opp!ng carte 01 

t1mduC! -esmn::h Thi<"fJ ps<tles Gilly colleCt 8nOr"lY'TlOOS '.Neb 8ehalrrof Infcl'mat;or) through!he U~ 0; web besc.ons alkNrl".g stat,~!L(,-8L 

analySIS reialln9 to tt~ performance Of Cll' ",<f~~$lng: 

J! you W'$\1 to o\$<lDle web bea::ot'S, it IS Xlss!!);e to preven: your browt,er from 10<10109 theft.. eltl1"v,;h !r,e,e:s not cuo·<!1"1!'y il stana'a;;j 

metllcdfurmr9~o 

!nformatiQ;,\Stl1m"9 

;'::.a"lt!Me gl~e5 yO\lI~ llb!i,:y t::l connect with other H1chVlcwa 5 W'~ h,JV(l 23andMe 080C0',ints through OUl" CC.'l'.'T1U(!jt~ fO'"Urt:S rel<lt·vc fj;'1Qng 

f"a:~:!i'S. anc o:~ler sl'.a'lng teatures FO' som~ features, OP!·o-..;IIS requ.'fcO to <lve,d !'lOt l;:.a~o1"\S 1(1 aOd,j,on yo:; '11ilY chOo$e 10 d,~:::cse, 

""'o:Jg"" O:her means :10\ aswci<rtec ,,,,It) 23anOMe any PIN:;of Yo.J( "'Cf$cnai 'ryormalJo,.-, to men:Js il.'1d1or fa""'t~ memoo's 9"0\.1100. of 

'llc'w:!Ja't, th.ro-party serv,Ol pr!wdel')., aoct¢rs o~ oth.,. hea!1" :.<l'~ p:'C>fess'O'),n, a·1dl:,Y ~ther ;'"'1dl':1O'-.lal:;. We r!:'cc~men() \.,,,~ yOl.l ma~e 

svch C'1o.ces C<l"El\lil~ 

"'eO$on,,1 ,!'l':xm:;'!l:::tn, O'\C~ lel~s.ed o' s)",ated. can be ¢'f,cwt\:o cy~an :;::3anctMe wli! have no respCflslb>hty or lmcth:y 1t'r "'lY 

::mseque ... cr.s ~M' m~ resui\ :OOC<'l~iSe you have rei!l811!J'C 0.1 Shared PC1"SOna:llnformatlcn wlth a lhiw party L,kew.~e, rf F..; ate reon)''); ill'S 

toe::;.!:Jse yo.: ,'1a",o:> ;lCCC'S$lc the P0tSOO8l lnfo.-ma:;n:> of a; 23a01dMe .:usto'-fler t:CrOil9h a mu't'-profl!e aCCotmL we ur~e you n <PCO:;lrize 

your les;xJr1s bL)'l~ !o protect IN> Pi"l'l21CY of (net pe.rs-o ., it·s 'n:<Jr1'\b€m ,'pen customers 10 share Personal li'1l'Olmal!o'l only w'~h people tlley 

<"OW arm tftl!.t U!.etS Witt'! mwt(L .. profl!e a,,cQIJ."lts Showld u~e :;:;mt!or, In ~etllll;; profile-l we! prw~y selmgs 

https:llwww.23andme.com/aboutlprivacy/ 11130/2010 
209 


tjames on DSK6SPTVN1PROD with HEARINGInsert offset folio 220 here 78125A.144

Privacy Statement - 23andMe Page 4 of5 

"s a ge,,<,:r,,: rule. 23ardMe wlil HO! orsoost' yO'Jr tnOt\ln::H;l31·le"~1 Ce:$Cc)3i ;nfOmW!IQ0 to any ltm"Q part!, except \j'loer the 1011ow,ng 

NC·.;'Tlstam:e~ 

• P<I!'\rlerscrservtcep,'1}Yloefs(eg """~,,pro","'rr 

;n (I(('ler to proVlde yOu wllh 23andMe'~ $I':"YIUJS 

• 2Sa"1dWe Resei!1:h. 23a'tdMe rnay o~~dcse Aggregated G~nel1C a"d Sel(·RepcrteC l!'!Iormat'orl mlended 10 be pubk,'1ed ,-,., >lee'-

re\7-!l"lad scler'lMic )0\.11':1:111 I;) rt:s!!arch CO',$OiYWICrs or AS a <"e$UI! ':/ p,-,i:li'~Mn YOt! may 9IVeM',(!1rxxd CCFlSt!nt 10; jO,Jl data to tie 

b'Tl~ h,"",,(!\J$f, W6 ~rno1 wrti.:.'lr-'W ir:lorm!'!ttor' tl);?l '";;IS p1(~"IOUSI,' been ,JS!:ld je;( p;bhshed retse.:arcr- or S~lare:.; W1:h e:o:!em"l 

c,)!IBtornlorsp-1crtoyo:.;r r&.'UBst to Wlll)jr3W cons.erll 

• Ccnlact Infc.m'laU"1t- 23andMe will ask for 8ne req",'e yo",r a\;pi'c,~ C::H1sent ~o Q:iow p:artr\erorga:1:l':2to!'5 direct (leees:;. lei yOU" 

Re9,shhonlmwMat:o" 

ti'R'S':' CQm'"1e~al paMer'S wit"mul your .:.xplicll consent 23<lndMe may \ndude your GenetIC and/or Self.Reported 'marmat/ott tn 

Aggregale:! Genetic and Setf·Repot1ed in1orn11lh::m dtsc'(l$SO :0 U"tese COmlf'NC!a! partne:s elien ,f fOil have n01 gi~et1 ccn$e~l foe your 

0f11elobe u:;ed In 23srrd\Ne R!;!£earch 

!ni(;rmatlon Disclosure Required By liiiW 

UndpT (;.eft'M c(C.Jmslances Pu'1SOf\,it information 11';<\\'1 be SUn!~( to GtSCIOSUI'1l pursuant ~o Joo;e;ai or ct~,e!' 9(Wernmen~ S!J~C>Yla<;, 

\\-arran:$, 0" (lrCGI'S YOu acknclI'Mdgll am:: ilgree (nat 23andi.!B IS !Tee it) ptese!'W) and disc;ose any and ell Pe"w1'1a! m;O'1"<at,on 10 law 

'l1ay owe pu;suam to e1.tll~11lnc t>ther professiOnal ~.Ji<ts, 'aw~, am)' reClU:atlOns. i()) Cr'lh::.'c.e tile 23anaMe 70S. ~(;) ",,-s::xnd:o ~ia""s :ha! 

any co~te'1! v!ol<tlas the ngl'llS or ltHrd par'~es, Of (0; protect IiH, ng'1ts, property. or pe'l\.Ma sP.!ety cl23andMe ,Is enployee$ '\$ 1..;sers !IS 

C<,l;Dts a~lO me pclD~C i~\ ~.JC..'" eve-'ll we WI\; 0:-':')' yo..; \l"·O.lg" in" C0n\ad If\f,:mnatoo you ",ave prOV;ded Ie \J\). rt'l advance 1.i11~SB GOI"!;): so 

wOuIOv:ctate\helav. cvacouno't!ar 

LInked We!n;nes 

23artdMe ;:;ro"'de~ klks !C t'1ird-parry websit~\). opermect:Jy Oi1'l,m;latrons 1');:;< affiil,Uad wilh 2J.andMe 23andMe d~s =~ o<sClo$e y:JLiC 

Perso'"la: Info~MaIlOt' Ie organ=l:ons opera1Jnglml<.eC tt>lrd·pa"y w\'b$ll~s. 23-andMe does not '!:'\IIe\'< 01 ent!o;se and '$ 1'101 res;r..:>f1Stbte tor, 

the pOllaey pra::;\ices of these organttal1D(1$ We encourage you to read \r1<O p!1V.OlCy $lalenenls Of "ach and every wf'bsiK: \tJal yw \1\$(\ 

PrWSCy $tal/lr<'{!f'lt applies solely 10 «1formavof'l colte~tej by 23smiMe 

It yoo no 1(,"'9"; WI&h 10 parl;,elpi31S If' our Serwces. you rrtily clo$e your il~!'\t by s.end'og a re<;uest (0 Customer Suppon;:\\ 

r>et;l~2Jaflct;'I'e com VIr'hoo clOSing an ~CCO\)1'11. WEi remov& all GaneJ;e :oloo'natu')(> W,\"lh your account (or proFile) w'~n Uwty ;3D) days of 

our 1t:Celpj ot your raquem. A5- slal€tct m t.'l~ aPDilCllD!e COi1Sen: Docur1~r.t ha,.,.e~e! Ge·'l\t\Jc imormaj,on andiOI Self-Repone~ 11~o"?;at!On 

10::.<1' 12-.\ and:rle rna;' re~,r. backup c!lfXe~ lor \') j,mrte: PHI::!" O· HI¥.' ptJtsuam to o>.!r oilla p,,:;:e;:l;on pollc.es. I:"; i:lOdlllGn, ''''9 ~:at<'1 Iim't6c 

"l:e';!""";!t:::n'nfOfT')3\lonreltlleC!:J),c.urcroe:!'),r.;Oi)!e; .. -.a'''e o.;nttlCl,anolransa-:;l;on::a:3)lc:acCOl..ot,\;ngGl\-:!comph<l;)(;kp,,;fjX\se5 

It your Pe'5P~al \r;!Ormat!Or, changes. yo" may CDrTeC; 0.- uodale yl),)1 R,H,)!SWollion I~!ornallo'l via YO-oJr Acccum S{':~lH";S page. "0" "lay 

alsc ccrrec1 or <e5~t Selj.Reoorte(1lnfo~ma1!or cntlOlreo lntr; ;; S";I'V~ 10'1'11, or feature IncbcaH;d ror 23axWe ResHi:!rcr u&e by e-ma,)·ng a 

request tt' C\;s!or"lfH S"ppm1 a\ help@23anome.ccm and ,rK:l\t;lng t'"le '1a""e of the Ilopeoiic $<)"I<'y. IDffi'\ 

Cniloren's?nvacy 

23.aMMe- is GOMMllt(!d Ie prot!l<!~ng the prw:;!cy 01 childr¢t'I a~ we!1 a'S ac\A!. t,>!either 7:m"dMe ntlr ~r1y 01 ils SWV1ces are de~,g'1(K! or 

mtended \0 atlsae! d1ddren under the 3(JB 01 13 A parent or guwj'art however, may collect a sanv .. sample from. creale an ~t fer, end 

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Navigenics" 

The Honorable Henry A. Waxman 

Chainnan, Committee on Energy and Commerce 

U.S. House of Representatives 

2125 Rayburn House Office Building 

Washington, D.C. 20515-6115 

November 8, 20 10 

Dear Chainnan Waxman: 

Thank you for your letter dated October 26, 2010, forwarding written questions for the record 

submitted by a Member of the Committee. Enclosed please find Navigenics' responses to those questions. 

Navigenics has sought to cooperate fully with the Committee's investigation. It welcomes the 

opportunity to provide any further infonnation should the Committee require it. 

Very truly yours, 

Vance K. Vanier, M.D. 

Chief Executive Officer 

Navigenics, Inc. 

Phone: 650.585.7707 

Email: vance.vanier@navigenics.com 

Enclosure 

lOmE "ii!!sdaltlHlvd, Suim 550,fm;tar City, CA 944G4 

www.[1Bvig2:1;~;;.[;(1m,l (86B) ~2f·j585 / +j (ESO) 5B5-7743 
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The Honorable Diana DeGette 

1. What gaps do you believe exist in genetic privacy law? What recommendations do you have 

for addressing these gaps? 

The Genetic Information Nondiscrimination Act of 2008 (GINA, Pub.L. 110-233), 

provides sUbstantial protections for genetic information. For example, health insurers 

cannot use genetic test results to deny medical coverage or set the price for health 

insurance. Insurers also cannot ask or require employees to take a genetic test. These 

rules cover health insurance plans of all sizes and types, including group health 

insurance, employer-run and government-run plans, and individual policies. 

GINA also prohibits employers from using genetic test results to make hiring and salary 

decisions or set other job-related policies. Moreover, employers cannot require 

employees to take a genetic test as part of starting or performing a job, except in very 

limited circumstances to protect worker safety. 

Despite establishing these critical protections, GINA also has some noteworthy 

limitations. GINA's protections do not apply to other types of health-related insurance, 

such as life insurance or long-term care coverage. In addition, GINA only safeguards 

genetic testing and genetic information. GINA does not apply to a person who has been 

clinically diagnosed with a genetic disease. Other federal protections, however, may 

apply in that situation, including those lifting restrictions on health coverage for 

individuals with pre-existing conditions under the recently enacted Affordable Care Act 

(Pub. L. 111-148). 

We encourage congressional leaders to extend GINA provisions to life insurance and 

long-term care insurance and to include those patients with a clinically diagnosed, or 

"manifested" disease. 

2. Who should develop standards (e.g. biomarker standards, risk algorithm standards) or other 

relevant criteria for genetic tests and how shou Id they be vetted? 

We believe the National Institutes of Health (NIH) would be the best developer and 

overseer of genetic testing standards, in conjunction with ongoing Federal regulation of 

lab services under the Clinical Laboratory Improvement Amendments (CLlA) and the 

continued, active participation of professional specialty medical societies. We 

recommend that Congress encourage the NIH to establish a set of recognized scientific 

criteria and convene panels of external experts to review and validate markers based on 

such criteria. In addition, we believe NIH should establish a separate panel to address 

questions about related new technologies, potentially under a federal interagency 

mechanism as envisioned in legislation recently proposed by Congresswoman Eshoo 

and Congressman Kennedy and previously proposed by President Obama, the 

Genomics and Personalized Medicine Act of 2010. 
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3. Should a minimum scientific evidence requirement be met before a claim or risk assessment 

is made in a direct-to-consumer genetic test? 

Yes, there should be minimum scientific criteria as well as testing standards that serve 

as the basis for any claim in genetic testing. There should also be a requirement that all 

testing markers and methodologies be transparent to physicians and patients. We 

believe it is important to note that all of Navigenics' testing is performed in our own 

CLiA-certified laboratory which has strict quality control procedures and lab methods to 

maintain the integrity of all of our samples. Our laboratory methods, as required by 

CLlA, undergo extensive laboratory validation to ensure that they are accurate and 

reproducible. 

In furtherance of the goal of minimum testing standards, we have developed our own 

scientific and clinical criteria for validating markers, which includes the requirement that 

the association between the genetic marker and the condition must have been 

published in a top-tier, peer-reviewed journal and replicated at least once. It is then 

reviewed by our team of Ph.D. geneticists for accuracy and validity against a set of 

transparent criteria. Our clinical team then determines the "actionability" level for each 

condition or drug-gene interaction, since the goal of our service is to prevent or delay 

onset of conditions and to use medications more effectively. 

4. Describe in detail what genetic counseling services are available to potential and current 

members of your company. Please include information regarding the type of counseling 

provided. the training and credentials of your genetic counselors. time of availability and 

duration of genetic counseling. and all costs associated with receiving genetic counseling, 

including one-time and ongoing counseling. 

Navigenics is the only company that has a team of board-certified Genetic Counselors 

on staff who routinely counsel physicians and patients in order to ensure that they 

understand genetic information. Our Genetic Counselors are trained healthcare 

professionals who specialize in personal genomics, and their work has made them 

leaders in their field as they educate physicians and other providers to allow them to 

integrate personalized genetic analysis into healthcare programs. Our Genetic 

Counselors are also board-certified professionals, having completed two-year Masters 

Degree programs, and adhere to a code of ethics that includes maintaining the highest 

levels of privacy and confidentiality. 

Currently, unlimited genetic counseling is included in the cost of the Navigenics Health 

compass. They offer counseling via telephone only. 

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5. Please describe in detail the process by which a client of your company receives a genetic 

evaluation. Include all steps that take place, from the point a client or physician solicits 

information about a genetic test to the point when a genetic report is received. 

Following is a brief description of the process that a potential client undergoes to 

receive a report from Navigenics: 

1) To request a Navigenics test, members must sign up through a physician or 

corporate wellness program. Members cannot visit the Navigenics website and 

order a test directly. Nor does Navigenics market its tests through a third-party 

retailer. 

2) Once Navigenics has received a valid application to participate in its program, we 

send a saliva collection kit to the enrolled participant by mail. The kit includes 

detailed instructions, a saliva collection vial and materials for shipping the vial to 

our laboratory for testing. Members send their samples back to our CLiA-certified 

laboratory in the envelope provided. 

3) Our CLiA-certified laboratory analyzes the saliva sample to identify risk markers. 

Navigenics then analyzes each individual's genetic risk for certain health 

conditions and medication reactions. This process typically takes approximately 

two to three weeks. 

4) We notify members via email when the results of their genetic analyses are 

ready. In this email, members are provided with information on the availability of 

Genetic Counselors to clarify the test results and discuss any questions the 

member may have. Members can then log onto their secure online account and 

review a comprehensive report of results. If the customer has signed up through 

a physician, their results may be delivered directly to the physiCian, who will 

contact them to review the results. 

5) As noted above, Navigentics' Genetic Counselors are available to explain genetic 

reports to each member and answer any ongoing questions. Our Genetic 

Counselors are also available to work with the member and his/her doctor to help 

them understand the member's genetic information as they develop personalized 

health strategies. Our Genetic Counselors are also available at any stage in the 

testing process-even before the member has decided to purchase Navigenics' 

services - to discuss any questions or concerns. 

6) We continue to update risk reports as new markers are identified and validated, 

notifying members of new predispositions or drug-gene interactions, for as long 

as they subscribe to Navigenics' service. 

6. Please describe all measures used by your company to protect client privacy and client 

identity. In your response, please discuss sample and data storage before and after samples 

arc processed. and data transfer between all involved parties (e.g. between client and your 

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company. between your company and contractors. between your company and medical 

professionals). 

Privacy has always been a hallmark of the Navigenics service. We have a very strong 

privacy policy that explains how we collect and use the information that our members 

provide to us. Set forth below are the key components of our privacy policy, including 

provisions addressing sample and data storage before and after samples are 

processed, and data transfer between all involved parties: 

Collection and use of information 

Navigenics collects a variety of information regarding use of our website and services, 

including personally identifiable information. The "personally identifiable information" 

addressed by this policy refers to the following: 

"Account Information" means the information that members or physicians provide 

to us when creating or updating Navigenics account, or purchasing our services, 

that can be used to uniquely identify each customer, such as name, telephone 

number, email address, billing/shipping address or credit card number. 

"Genetic Data" means the genotyping results that we generate for each customer 

or physician through our services (namely, the set of A's, G's, Ts and C's at 

particular locations in the genome) but only to the extent such results, by 

themselves or when linked to other personally identifiable information, are sufficient 

to uniquely identify each customer. 

"Phenotype Information" means gender, birth date and, optionally, other personal 

information about each customer that he/she or a physician may voluntarily provide 

to Navigenics, which may include ethnicity/ancestry, the geographic regions where 

ancestors lived, any diseases or other health conditions that run in a customer's 

family, and personal traits such as height and weight. 

We collect and use personally identifiable information to authenticate each customer's 

use of our website and services, to process purchase transactions, to provide the 

services our members or their physicians have requested, to communicate with 

members or their physicians, and to send customer or their physician's relevant 

information and materials. However, Navigenics will not, without the customer's 

consent, disclose or share personally identifiable information with third parties except 

as required to provide the services as requested by the customer, in the event 

Navigenics is acquired by or merges into another company, or as otherwise required by 

applicable law. We limit access to personally identifiable information to appropriate 

Navigenics personnel on a need-to-know basis. 

Research 

Navigenics believes in providing the highest quality service available and helping 

further scientific and medical research. To that end, we may analyze our members' 

genetic data and associated phenotype information on an aggregated basis and delinked from any member account information, to: 

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Improve the quality and features of our website and services 

Provide our members with new and more accurate analysis of genetic data 

Discover or validate associations between certain genetic variations and certain 

health conditions or traits, as well as other insights regarding human health 

Publish our findings and insights without disclosing Genetic Data in a quantity 

sufficient to uniquely identify the customer, and without otherwise disclosing the 

customer's identity 

We may also give each member the opportunity to contribute his/her genetic 

information to science. If a member elects to contribute his/her genetic information to 

science through the Navigenics service, he/she allows us to share Genetic Data and 

Phenotype Information (de-linked from Account Information) with not-for-profit 

organizations who perform genetic or medical research, and he/she allows such notfor-profit organizations to separately or jointly publish study results that include Genetic 

Data and Phenotype Information (but not Account Information), in peer-reviewed 

scientific and medical journals and otherwise, and to deposit such data and information 

into public data repositories or otherwise make them publicly available to the extent 

required by such journals. 

If a member elects not to contribute his/her genetic information to science through the 

Navigenics service, we will not share their Genetic Data or Phenotype Information with 

such organizations. 

Finally, Navigenics will never sell a member's personal genetic information to any third 

parties. 

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November 15, 2010 

Earley Green 

Chief Clerk 

Dear Mr. Green, 

Below please see Pathway Genomics' responses to the questions submitted by 

Congresswoman Diana DeGette in a follow-up to our appearance before the 

Subcommittee on Oversight and Investigations on July 22, 2010 for the hearlng on 

"Direct-ta-Consumer Genetic Testing and the Consequences to the Public Health." 

If there are any further questions, please do not hesitate to contact me (858-771-

0523). or Ed MaeBean (858-692-6242). 

Sincerely, 

K. David Becker, PhD 

Chief Scientific Officer 

Pathway Genomlcs Corporation 

4045 Sorrento Valley Blvd. 

San Diego, CA 92121 
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Ql. What gaps do you believe exist in genetic privacy law? What recommendations 

do you have for addressing these gaps? 

A. As you know, the federal Genetic Information Nondiscrimination Act of 2008 

(GINA) prevents health insurers from using genetic information to deny health 

coverage or establish the cost of health insurance. GINA also prohibits employers 

from using genetic information when making employment-related decisions. However 

currently only a minority of states prohibits genetic discrimination by either life, 

disability and/or long-term care insurers. Pathway describes this risk in "A Patient's 

Brochure on Comprehensive Genotype Testing," which is a supplement to our 

patient's Informed Consent. 

Thirty-nine (39) states have genetic privacy laws that provide special legal 

protections for genetic information beyond the protections provided for other types 

of health information. As you know, state laws preempt the Health Insurance 

Portability and Accountability Act (HIPAA) and the Health Information Technology for 

Economic and Clinical Health (HITECH) Act. The complexity of complying with 

varying state laws creates a burden on small- to medium-sized regional and national 

companies and introduces the risk of non-compliance when one or more states have 

requirements that may be different from the majority of states. 

While it makes sense to regulate many things at the state level, genetic information 

should not be more, or less, sensitive depending upon the state. Regulating the 

privacy and security of genetic information at the federal level, with no state 

preemption, would provide a simpler regulatory scheme and better assure 

compliance. A single regulatory level playing field would also ultimately better serve 

all stakeholders, including consumers. 

The National Conference of State Legislatures (NCSL) website demonstrates the gaps 

that exist in these laws. 

Genetic Privacy Laws - Updated January 2008: 

http://www .ncsl.org/default.aspx?tabid= 14287 

Genetics and Life, Disability and Long-term Care Insurance -

Updated January 2008: 

http://www . ncsl. org/default. aspx?tabid = 14283 

However, regardless of the regulatory structure that is in place, Pathway continues 

to remain committed to full compliance with all applicable laws and regulations at the 

local, state and federal levels. 

Q2. Who should develop standards (e.g. biomarker standards, risk algorithm 

standards) or other relevant criteria for genetiC tests and how should they be 

vetted? 

A. Standards will need to be different for different types of genetiC information. 

Each area of genetiCS, or intended use, poses specific challenges that require 

individualized approaches to ensure that safe and effective information is available to 

clinicians and to the public. Standards development should incorporate as many of 

the stakeholders as pOSSible, including representatives of the public, patient 
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advocacy groups, personal genomics and diagnostics industry leaders, genetics 

experts and the regulatory agencies. 

Such a group could be coordinated through the NIH, or other organizations, such as 

the Biotechnology Industry Organization (BIO) or the Personalized Medicine Coalition 

(PMC). The goal of the group should be to produce a balanced set of standards that 

provides for public safety and allows access to significant scientific findings through 

responsible reporting, innovative methods, the flexibility to adapt to rapidly evolving 

information and provide public education. 

Q3. Should a minimum scientific evidence requirement be met before a claim or risk 

assessment is made in a direct-to-consumer genetic test? 

A. The future of medicine is to empower patients with useful information that will 

improve personal engagement in health decisions. Emerging results suggest that 

personal genetic information can effect positive behavioral change that may lead to 

improved health. Further, providing personal genetic information is an opportunity to 

educate the public in the utility and limitations of this resource. 

Standards should be established and should be specific to the type of genetic 

information and the risk of the intended use. Some genetic information is of low risk, 

for example ancestry and nutritional information such as the genetics of lactose 

intolerance. In this case, claims should be supported by sufficient evidence of 

replication from independent studies. Other genetic tests could present significant 

risk of false positive/negative results, such as the type of cancer treatment to 

employ, and as such, the claims of the genetic test would require regulatory review. 

Regulators should be cautious to apply appropriate regulation that will protect the 

public, allow for innovation and adapt to the rapidly changing scientific environment. 

Simply producing a list of markers acceptable for personal genetic testing, although 

attractive in minimalism, may have far-reaching deleterious effects on innovation. If 

a genetic variation is to be used individually to imply risk, then the evidence 

supporting the intended use should be substantial, requiring that the findings be 

replicated by independent genetic studies. However, some biomarkers may have 

limited individual utility, yet could contribute significantly as part of a multiplexed 

test by capturing information about complex biological interactions. In such an 

instance, the test should be evaluated based on the risk to the patient and the claims 

about the overall results, not the individual markers per se. 

A mandatory genetic test registry should be established, requiring genetic testing 

companies to provide enough information to evaluate the evidence supporting the 

claims being made about the genotype-phenotype correlation. The registry could 

provide regulators with information necessary to thoroughly evaluate all tests and 

determine if the test would require further regulatory review; at the same time the 

registry could allow non-proprietary information to be publicly available for 

comparison of providers. Genetic tests should be required to demonstrate acceptable 

levels of support based upon standards of evidence, along with the risk of the test 

results to the patient and the claims being made about the results. All genetic testing 

laboratories should be required to be certified or accredited through the Clinical 

Laboratory Improvement Amendment (CLlA) and/or the College of American 

Pathologists (CAP). In this fashion, regulatory inspections could ensure participation 

in the test registry, allowing proper assessment of all genetic testing 
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Q4. Describe in detail what genetic counseling services are available to potential and 

current customers of your company. Please include information regarding the type 

of counseling provided, the training and credentials of your genetic counselors, time 

of availability and duration of genetic counseling, and all costs associated with 

receiving genetic counseling, including one-time and ongoing counseling. 

A. Pathway offers pre- and post-test genetic counseling to any individual who is 

interested in, or has taken, one of Pathway's genetic tests. All of Pathway's genetic 

counseling services are currently offered free of charge or obligation. 

In pre-test genetic counseling, one of our counselors will typically explain the 

process for genetic testing and the type of information that an individual might learn 

from genetic testing, and the limits of genetic testing. The genetic counselors will 

also attempt to answer any specific questions raised by the individual, including 

consent-related questions. 

The process for post-test genetic counseling has changed Since we suspended 

consumer-initiated testing, but we will explain both methods here since they seem 

relevant to your line of questioning. 

In the consumer-initiated model, post-test counseling was initiated in one of two 

ways. The first scenario would occur when a member of our clinical staff identified 

something in the report we believed to be important to discuss with the individual. 

The typical scenarios we identified for this action were the following: 

A pregnant woman, or an individual who reported their partner was pregnant 

An individual planning to have children and who was identified as a carrier of 

one, or more, recessive genetic diseases 

An individual who had reported a family history of a disease and the testing 

demonstrated an elevated genetic risk for that condition 

An individual who had reported they were using a medication and our test 

suggested a possibly atypical response, based on his or her genetic profile 

Our overriding concern in all these cases was that an individual might misuse this 

information to make an uninformed decision about his or her health. Unless there 

was an indication of something severe or an extremely risky situation, we notified 

the individual that one of our genetic counselors was available to review the test 

results with but did not require it prior to releasing their results. Additionally, we 

always encourage individuals to share the results with a personal physician before 

making any changes to his or her medical treatment or initiating any lifestyle 

changes. 

In our current medical model, the testing is requested by an individual's phYSician 

and the results, in the form of a detailed report, are returned to the physician. Our 

overriding concerns are the same; however, the process has been modified slightly. 

If there is information in our report that our clinical staff feels should be highlighted, 

we provide that information in a cover letter that is included with the paper copy of 

the report. Our genetic counselors are available to discuss the notations or any other 

aspect of the report with the ordering physician or, at the physician's request, 

directly with the patient. 

All of Pathway's genetic counselors are Board-certified or -eligible by the American 

Board of Genetic Counseling. Our genetic counseling is regularly available Monday 
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through Friday from 8:00am to 5:00pm, Pacific Standard Time. It is important to 

note that we will make exceptions to be available during non-standard hours to 

accommodate an individual's needs. Typically, a call with a genetic counselor lasts 

between 10 and 20 minutes, though it can vary significantly based on customer 

needs. As our customer base grows, we anticipate that we may need to expand our 

operating hours to be available for customers in different time zones. Additionally, 

we currently record all calls with genetic counselors, after we receive from all 

participants consent to discuss genetic information and to record the call. If a person 

declines to have the call recorded, we will still speak with him or her, but only after 

documenting the request not to record the call. 

Q5. Please describe in detail the process by which a client of your company receives 

a genetic evaluation. Include aI/ steps that take place, from the point a client or 

physician solicits information about a genetic test to the point when a genetic report 

is received. 

A. As with our response to the fourth question, we will discuss the process as it was 

when we offered consumer-initiated testing, as well as the process as it relates to 

our current medical model. The underlying tenets of accuracy and responsibility in 

testing are unchanged, but the processes are slightly different. 

In the consumer-initiated model, an individual would come to our website 

(www.pathway.com) and choose which reporting services they wanted. They could 

select the health test (including risk for health conditions, presence of any recessive 

carrier mutations, and likely responses to certain drugs), the genetiC ancestry test 

(an analysis of where their genetiC ancestors originated and migrated from 10,000 to 

150,000 years ago), or they could order both tests together. Once they had made 

their selection, they would provide payment information and complete the online 

checkout process. When we received their order, we would send them a collection 

kit, which includes a saliva collection vial and cap, a requisition form, instruction 

materials, a biohazard bag and prepaid shipping materials. The individual would 

typically receive the saliva collection kit within two to three days. The individual 

would provide his or her information on the requisition form, submit 2ml of saliva 

into the collection tube, screw on the cap to release the preservation fluid, place it in 

the bio-hazard bag and, using the pre-paid package, mail the sample back Pathway's 

ellA-certified lab. 

In our current medical model, the process has been modified to require an interested 

individual to contact his or her phYSician to order the desired test(s). Unfortunately, 

this can be a significant barrier as an individual may be required to schedule several 

appointments and take time off of from work to obtain the physician's order, have 

the physician collect the sample and review the results. In order to minimize any 

inconveniences, we have forms that can be downloaded from our website and allow 

the doctor to release the results directly to the patient. While we continue to make 

customer service and genetic counselors available for phone support, there is no 

question that the medical model creates some hurdles that can prevent many 

patients from accessing their genetic information. 

In both models, the individual would go online to www.pathway.com/activate and 

create their secure online account before mailing the saliva back, though we do allow 

for a paper-based option to collect the same information in the medical model. 

During this process, individuals provide a username and password, provide personal 

information (contact information along with date of birth, ethnicity, and gender), 
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before reviewing and agreeing to the consent, terms of service, and privacy 

statement. At that pOint, the user can voluntarily complete a health survey, which 

captures information about their environment and lifestyle, current health, and 

family history. 

For both models, we process the samples identically within the laboratory testing and 

review processes. When the sample is received in our lab, it first goes through an 

accessioning process where the sample is received and inspected. The accessioning 

team visually inspects the sample to make sure it contains a sufficient amount of 

specimen, that there are no signs of damage or other concerns, and that the 

personal data on the vial matches the personal data on the requisition form. 

Accessioning also checks the information on the requisition form to ensure that it 

matches the information provided during the activation process. If any of these 

steps fail, then the account is assigned to our customer service team to contact the 

customer to clarify information that does not match and, if necessary, request a new 

sample. 

The DNA is processed in our on-site CLlA-certified laboratory, and the results are 

processed through the bioinformatics pipeline to analyze the genotypic 

information. This procedure includes several quality assurance checks to ensure that 

the sample has been properly processed. The bioinformatics analysis pipeline 

generates the results for the report by calculating the risk categories of complex 

health conditions, the presence or absence or recessive genetiC mutations, and the 

expected drug response. The results, along with an individual's genotypic 

information, are loaded into our results delivery system and prepared for evaluation 

by our physicians and genetiC counselors. This group reviews every test and looks 

for any items of concern as described above, and decides if the results can be 

published or if a communication is required prior to publishing. 

In the consumer-driven model, the communications are accomplished directly with 

the individual being tested. In the medical model the communications are made only 

with the physician and, if specifically requested by the ordering phYSician, directly 

with the patient. 

Q6. Please describe all measures used by your company to protect client privacy 

and client identity. In your response, please discuss sample and data storage before 

and after samples are processed, and data transfer between all involved parties (e.g. 

between client and your company, between your company and contractors, between 

your company and medical professionals). 

A. Pathway takes its privacy and security responsibilities very seriously. 

PRIVACY: We will use the FTC's Fair Information Practices as a framework for our 

response related to privacy. 

Notice/Awareness: Pathway provides Summary and Full Privacy Statements 

(collectively the "Privacy Statement") that explain how information is collected, used, 

shared, and protected, and patient choices to limit sharing. The Privacy Statement is 

available via a prominent link in the footer of our website. 

Choice/Consent: Prior to laboratory testing, either the ordering personal physician or 

Pathway obtains patient consent, as determined by the process. Pathway presents a 

two page Informed Consent and a more detailed Brochure (collectively "Informed 

Consent") that explain the purpose, benefits, risks and limitations for the genetiC 
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report ordered, as well as how information is collected, used, shared, and protected, 

and patient choices to limit sharing. Pathway makes clear in its Informed Consent, 

Privacy Statement, and website that Pathway-authorized physicians and genetic 

counselors are available for pre-testing consent counseling, and provides a toll-free 

phone number to facilitate this. 

Access/Participation: The Privacy Statement explains to individuals who have an 

account how they can update or correct account information (such as email address, 

street address, or phone number) to ensure accuracy and completeness. In cases 

where the physician establishes a patient record and there is no customer account, 

the physician is responsible for keeping appropriate record information current. The 

Privacy Statement and Informed Consent explain how patients can request earlier 

DNA extract destruction and/or account deactivation. 

Integrity/Security: Pathway employs reasonable and appropriate administrative, 

physical, and technical security safeguards to protect patient personal information, 

which will be further explained below. The accuracy of information is explained in "A 

Patient's Brochure on Comprehensive Genotype Testing," as well as in all genetic 

results reports. 

Enforcement/Redress: The Privacy Statement explains that privacy-related 

complaints can be brought to the attention of Pathway's Chief Privacy Officer whose 

contact information is provided in the document. It further explains that any 

unresolved privacy complaints can be filed with the Secretary of the U.S. Department 

of Health and Human Services and/or the California Department of Health Services. 

IDENTITY: Pathway's customer service and genetic counseling personnel are 

privacy-trained and adhere to established procedures for verifying the identity of 

patients at the outset of a call. 

SECURITY: As mentioned above, we employ a comprehensive system of industryaccepted administrative, physical and technical controls to safeguard the privacy of 

and protect the information that we collect, use and store. 

All Pathway workforce members, including employees and independent contractors, 

who have access to personal information as a part of their regular responsibilities, 

are privacy and security-trained and sign a confidentiality agreement. 

Pathway employs roles-based-access-controls (RBAC) to limit: 

Physical access to the building, laboratory and data room; and 

Systems access to personal information is provided to only personnel who 

reasonably have a need to know this information to provide our services 

As an example, different roles, such as customer service representatives and 

physicians, have different and appropriate RBAC access levels to systems and 

information. We also maintain records of personnel logon access to systems and 

databases and we monitor and periodically review access to personal information. 

Administrative Safeguards 

Chief Privacy and Security Officer with lAPP's CIPP certification 

o lAPP = International Association of Privacy Professionals; 

CIPP =Certified Information Privacy Professional 
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Privacy and security-trained workforce members 

• Criminal background checks of workforce members 

• Confidentiality agreements for workforce members 

• HIPAA Security Policy and Procedures 

• Incident Response Policy and Procedures 

• Implementing more comprehensive ISO 27002 system of 

controls 

• Third party information security due diligence questionnaire 

• Third party contracts include information security provisions as 

appropriate or Business Associate Agreement as addendum 

• Roles-based-access-controls (RBAC) appropriately changed at 

termination or changes of status 

• Periodic review of personnel roster of physical and systems RBAC 

rights for accuracy 

Physical Safeguards - Pathway 

• Card reader RBAC controls for our building, laboratory, and data 

room 

• Motion-activated surveillance cameras 

• Visitor sign-in log and escorting when in facility 

• Locked paper shredding bin with scheduled pick-ups and 

shredding of paper documents containing personal information 

by a bonded NAID-certified company 

• SAS 70 Type II information security audit certified colo hosting 

service provider's facility 

Technical Safeguards - Pathway 

• Separate development, testing, and production environments 

• Data masked for engineers and QA testing personnel 

• Encrypts system backup drives to safeguard personal 

information archived off the network 

• Firewalls protect network; ports locked except those in active 

use 

• Virus and intrusion detection software prohibit unauthorized 

access to our systems 

• Secure Socket Layer ("SSL") encrypts personal data collected on 

web pages 

• 2S6-bit SSL encrypted e-commerce website 

PC! approved payment processor platform 

• All logs enabled and periodically monitored 

• Periodic system vulnerability scans 

• Systems access to personal data by others is limited to 

personnel on "need-to-know/use" basis using roles-basedaccess-controls 
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Strong authentication/password controls to control personnel 

and customer access to personal information 

End-point security controls 

Laptops containing personal information have encrypted 

folders/drives 

Flash/USB and CD Writer devices locked out on company 

desktop/laptop computers for laboratory personnel 

Passwords stored in encrypted manner 

Sample Processing and Data Storage 

After a physician orders testing, either the physician or patient will submit the 

patient's saliva specimen to Pathway. Depending upon the process, patient consent 

to genetic testing is obtained by either the ordering physician or by Pathway. After 

consent and upon receipt of the sample, Pathway will extract DNA from the saliva 

and conduct comprehensive genotype testing to analyze unique DNA sequences. 

Having our own on-site federal CLIA certified and California-licensed laboratory 

provides additional control over processing and security of saliva samples and DNA. 

Pathway employs a comprehensive system of laboratory controls that protects the 

security of samples and DNA. Our laboratory is secured by a card reader control 

system with motion-activated video surveillance cameras on all doors. Only 

authorized personnel are granted laboratory access privileges. Privacy-trained 

laboratory professionals process samples. 

Saliva samples are destroyed about 60 days after the testing process is completed 

and the results are finalized. DNA extracts are placed in our secure freezer for 

safekeeping with only a limited number of authorized personnel having access rights. 

The DNA is destroyed no more than one year from the most recently ordered report 

sample receipt date. All genotype information derived from the process is retained in 

our laboratory information management system, member site information, and 

backup systems ("information system"). 

Either the phYSician will establish a patient record or the patient will establish an 

online account, providing requested information about age, gender, and ethnicity. 

This information is required as it provides the information necessary for Pathway, the 

physician and/or a genetic counselor to interpret the patient's report results. The 

record or account information is used to administer Pathway's services provided to 

the physician and patient. Depending upon the process, either the physicians can log 

in and change patient record information or the patient can log into their account 

and change the appropriate information to ensure its accuracy. 

If a patient no longer desires to use our service, the patient can make a written 

request for Pathway to destroy his or her DNA extract at the next scheduled sample 

destruction date, which occurs about every Sixty (60) days. In addition, or 

alternatively, an individual can deactivate his or her account from our systems within 

ten (10) business days by contacting Pathway's Chief Privacy Officer as identified in 

the Contact Us section of the Privacy Statement. Not all personal information can be 

removed from our systems. We are required by law and standards of medical 

practice to preserve medical records, some contact information, and disclosure 

records for specified time periods. Aggregate information and information in logs 
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cannot be deleted. Information archived on data backup media also cannot be 

deleted, however it is protected by encryption. 

As disclosed in its Informed Consent and Privacy Statement, Pathway uses an 

internally assigned unique identification number, which will either not include patient 

name or contact information or will be encrypted for internal operations purposes to: 

Validate genetic information 

Improve the quality and accuracy of Pathway's genetic reports 

Develop new genetic reports and/or services, but not publish the results in 

scientific literature 

Promote the types of information that individuals may learn from our reports 

Improve the quality and features of our website and services 

Produce data for product approval or clearance by FDA or other regulatory 

authority or body 

We analyze and use aggregate information and online profile information (computer 

IP address and non-personal information) to track and monitor aggregate usage of 

our website, as well as to improve the quality and features of our website and 

services. We explain how cookies can be deleted in the Privacy Statement. 

Data Transfer between All Involved Parties 

Pathway treats its independent contractors as workforce members as permitted by 

HIPAA, which means we conduct a screening of their backgrounds, and they each 

sign a confidentiality agreement, are privacy and security trained, and are assigned 

appropriate RBAC privileges. 

Genetic testing results will be disclosed only to the ordering physician. Additionally, 

if the physician considers it appropriate and authorizes his or her patient to view the 

results, Pathway will release the report to the patient. It is important to note that 

Pathway will not release genetic report information to anyone else unless required 

by law. 

We may contact and give individuals the opportunity to opt-in or refuse before any 

personal information is shared for any secondary purpose outside Pathway's 

immediate control, including published scientific research. No name or account 

information is shared with a research collaborator without express consent of the 

individual. 

For individuals participating in an employee well ness program, Pathway provides the 

employer only aggregate information unlinked to name or account information. By 

contract, any reseller of our services must not collect personal information from 

patients without their consent. 

Pathway also uses other third parties, companies and individuals, to perform other 

functions on our behalf. Examples include fulfilling and authorizing orders, delivering 

packages and testing results, sending postal mail and email, removing repetitive 

information from customer lists, analyzing data, providing marketing assistance, 

providing search results and links (including paid listings and links), processing card 

payments, systems development and managed technology services, and providing 

customer service. These third parties may have access to, and use, certain personal 

information to needed to perform their functions our behalf. However these third 

parties may not retain, share, store or use it for any other purposes and must 

maintain strict confidentiality of this information. They will have no access to genetiC 
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information, other than the type of genetic report. All such third party service 

providers with access to personal information must agree to responsibly use such 

personal information in an authorized manner and to comply with all appropriate 

privacy laws and regulations. 

For its service providers and partners with regular access to personal information 

needed to provide their services, Pathway requires an agreement specifying that 

they provide appropriate security for such personal information. In addition to 

implementing appropriate security measures, these service providers and partners 

must have either an independent audit certifying privacy and information security 

compliance, or they must attest to being compliant to Pathway's information security 

due diligence questionnaire, and they must agree to only the authorized use of any 

personal information. We believe these requirements provide practical assurance 

that our service providers and partners will exercise reasonable and appropriate 

protection of patient personal information. 

o