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47–953 PDF 2009

S. HRG. 110–770 

ROUNDTABLE DISCUSSION: 

REGULATORY, SCIENTIFIC AND ETHICAL ISSUES 

RELATING TO GENETIC TESTING 

ROUNDTABLE DISCUSSION 

BEFORE THE

SPECIAL COMMITTEE ON AGING 

UNITED STATES SENATE 

ONE HUNDRED TENTH CONGRESS 

SECOND SESSION 

WASHINGTON, DC 

JUNE 12, 2008 

Serial No. 110–30 

Printed for the use of the Special Committee on Aging 

( 

Available via the World Wide Web: http://www.gpoaccess.gov/congress/index.html 

SPECIAL COMMITTEE ON AGING 

HERB KOHL, Wisconsin, Chairman 

RON WYDEN, Oregon 

BLANCHE L. LINCOLN, Arkansas 

EVAN BAYH, Indiana 

THOMAS R. CARPER, Delaware 

BILL NELSON, Florida 

HILLARY RODHAM CLINTON, New York 

KEN SALAZAR, Colorado 

ROBERT P. CASEY, Jr., Pennsylvania 

CLAIRE McCASKILL, Missouri 

SHELDON WHITEHOUSE, Rhode Island 

GORDON H. SMITH, Oregon 

RICHARD SHELBY, Alabama 

SUSAN COLLINS, Maine 

MEL MARTINEZ, Florida 

LARRY E. CRAIG, Idaho 

ELIZABETH DOLE, North Carolina 

NORM COLEMAN, Minnesota 

DAVID VITTER, Louisiana 

BOB CORKER, Tennessee 

ARLEN SPECTER, Pennsylvania 

DEBRA WHITMAN, Majority Staff Director 

CATHERINE FINLEY, Ranking Member Staff Director 

(II) 

C O N T E N T S 

Page 

Opening Statement of Senator Gordon H. Smith ................................................. 1 

PANEL OF WITNESSES

Statement of Linda Avey, Co-founder, 23andme .................................................. 3 

Statement of Thomas Hamilton, Director, Survey and Certification Group, 

Centers for Medicare and Medicaid Services ..................................................... 4 

Statement of Steven I. Gutman, M.D., Director, Office of in Vitro Diagnostic 

Device and Radiological Health, Food and Drug Administration .................... 5 

Statement of Kathy Hudson, Ph.D., Director, Genetics and Public Policy 

Center, Johns Hopkins University ..................................................................... 7 

Statement of Judy Yost, Director, Division of Laboratory Services and Clia 

Program, Centers for Medicare and Medicaid Services .................................... 7 

Statement of Elaine Lyon, Ph.D., Associate Professor of Pathology, University 

of Utah School of Medicine, and Medical Doctor, Molecular Genetics, Arup 

Laboratories .......................................................................................................... 8 

Statement of Matthew Daynard, Senior Attorney, Division of Advertising 

Practices, Bureau of Consumer Protection, Federal Trade Commission ......... 9 

Statement of W. Gregory Feero, M.D., Ph.D., Senior Advisor to the Director 

of Genomic Medicine, National Human Genome Research Institute, National Institute of Medicine ................................................................................. 12 

APPENDIX 

Written Comment Submitted by Elaine Lyon, PhD, Medical Director of Molecular Genetics ARUP Laboratories on Genetic Testing ...................................... 41 

(III) 

(1) 

ROUNDTABLE DISCUSSION: REGULATORY, 

SCIENTIFIC AND ETHICAL ISSUES RELATING TO GENETIC TESTING 

THURSDAY, JUNE 12, 2008 

U.S. SENATE

SPECIAL COMMITTEE ON AGING

Washington, DC. 

The Roundtable was Commenced at 2:16 P.M., in room G-11, 

Dirksen Senate Office Building, Hon. Gordon H. Smith, Ranking 

Member, presiding. 

Present: Senator Smith. 

Also Present: Christina M. Hinkle, Chief Investigative Counsel. 

OPENING STATEMENT OF SENATOR GORDON H. SMITH, 

RANKING MEMBER 

Senator SMITH. Welcome, everyone. We appreciate so much your 

coming to this very important roundtable. We want it to be somewhat informal, but make it helpful for this very important topic. 

It’s a topic that we had a hearing on in the Aging Committee 2 

years ago. It is obviously the issue of genetic testing and direct-toconsumer sales and the impact that that may have on consumers 

as they may or may not be exploited or misled or defrauded. 

My investigation in this area has revealed to me and to my staff 

questionable clinical practices of laboratories performing these 

tests, despite the fact that a number of these labs purportedly were 

CLIA-certified. While at that hearing we focused on a particular 

subset of DTC tests, the concerns raised at the hearing apply 

across the board to genetic testing and chiefly to these three areas: 

No. 1, do consumers have adequate assurances of the safety and 

accuracy and usefulness of genetic testing, be it the DTC or physician-ordered tests? 

No. 2, what protections exist for consumers’ DNA, genetic test results, and other sensitive information provided in the course of genetic testing, particularly in the DTC arena? 

No. 3, does CLIA provide adequate oversight standards for genetic testing laboratories? 

I have invited you all here as panelists today because from what 

I have seen there remains much work for regulators and for the 

Congress to do to protect consumers to ensure the privacy and confidentiality of personal genetic information. CMS has abandoned 

plans for a CLIA genetic testing specialty. To my knowledge, the 

FTC has done little to pursue enforcement actions, despite clear 

evidence of fraud in the marketplace. Confusion abounds regarding 

2 

the roles of CMS and FDA in regulating certain aspects of genetic 

tests, especially DTC tests. 

For 2 years I have been sounding the alarm, calling for more 

stringent oversight, a call that is echoed in the recent report from 

the Secretary’s Advisory Committee on Genetics, Health, and Society. In the 2 years since this committee’s 2006 hearing, genetic 

tests have continued to proliferate. According to genetest.org, there 

are now available genetic tests for over 1500 diseases. This proliferation continues to fuel concerns about the oversight of genetic 

testing and the protection of consumers’ health data. 

I’m hopeful that today’s panelists will address these and other 

issues relating to genetic testing. Since we have a lot of ground to 

cover in a short period of time, you’ll have to excuse me. I won’t 

be here for the entire roundtable. My staff will take over. I’ll be 

here for just as long as I possibly can, because this topic I think 

is very, very important and it’s a subject that is growing. 

Our panelists today include. Tom Hamilton and Judy Yost from 

the Centers for Medicare and Medicaid Services. Tom serves as Director of the Survey and Certification Group. Judy serves as Director for the Division of Laboratory Services and the CLIA program. 

Steve Gutman and Catherine Cook are here from the Food and 

Drug Administration. Steve serves as Director of the Office of In 

Vitro Diagnostic Device Evaluation and Safety in the Center for 

Devices and Radiological Health. Kate is the Acting Senior Associate Center Director of the Center for Devices and Radiological 

Health. 

Also we have Greg Feero, who serves as the Senior Advisor to 

the Director of Genomic Medicine at the National Human Genome 

Research Institute at NIH. 

Kathy Hudson is the Director of there Genetics and Public Policy 

Center at Johns Hopkins University. 

Elaine Lyon is here on behalf of the American Clinical Laboratory Association. She serves as an Associate Professor of Pathology 

at the University of Utah School of Medicine and is the Medical Director of Molecular Genetics for ARUP Laboratories. 

Finally, we have Linda Avey, Co-founder of direct-to-consumer 

testing company 23andMe. 

Thank you all for coming. I want you to be at home, relaxed. 

This is not an inquisition. This is a serious inquiry by the U.S. 

Senate to find out where we are and what this means, what this 

means to consumer protection, what this means to people’s privacy, 

and what holes there are in our regulatory system, to make sure 

that we’re doing right by the American people with this proliferating product. 

So why don’t we start. Any particular order here? 

Why don’t we start with—when we speak of regulatory gaps— 

and here we go to CMS—what seems to me is in some instances 

consumers are basically signing away their rights to their own 

DNA information, the test results and any scientific discoveries 

from research on their DNA. I understand that 23andMe require 

consumers to consent to the use of their DNA samples in unspecific 

research. 

3 

My question is what aspects of DTC testing are regulated, where 

are the holes, and what protections exist for consumers. I throw it 

open. Would you like to answer that one? 

STATEMENT OF LINDA AVEY, CO-FOUNDER, 23andME 

Ms. AVEY. The whole idea of research is something that we’re 

very interested in at 23andMe. We actually just launched a new extension of our platform that we call 23andWe, because what we’re 

hearing from our customers, who voluntarily sign up to be part of 

23andMe, is that they’re very interested in being active participants in research, which really doesn’t happen right now. When 

someone is presented with the opportunity to be a subject in a research project, they’re not necessarily given the option to have access to their own data that is generated. 

23andWe is an extension of that idea of being part of a research 

project, again very voluntarily. When people sign up for 23andMe, 

yes, we say that we’re going to do a limited amount of research 

with their genetic data. But until they give us additional information about their phenotype, we can’t do a study with them anyway. 

So it’s all voluntarily submitted. 

From what we’re hearing people are really eager to be part of research projects where they can actually have a voice. Just like we 

see with autism, there are still parents out there who believe that 

their child was affected potentially by their vaccines. Those are the 

kinds of things we want to open up and give parents and consumers and patients, cancer survivors, anyone who’s interested, the 

opportunity of being a participant in research. 

Senator SMITH. Do they know when they sign this over that it 

might go out more broadly as to them specifically? 

Ms. AVEY. One of the promises we make to each and every customer is that we will never sell an individual’s data. We will never 

do that or make it accessible. If they want to download their data 

and give it to a researcher, they can do that. That’s within their 

rights to do that. 

But our intention is to keep the information very secure and private within 23andMe, and then when outside researches approach 

us and propose queries of our database, our bioinformatics experts 

internally will do that query for them. But the data will never 

leave 23andMe, again unless a consumer says, ‘‘I want my data to 

go to my doctor or a researcher I know at UCLA who’s doing a 

study and I want to be part of it.’’ 

So they own that decisionmaking process. 

Senator SMITH. You feel like they have sufficient control over it, 

then? 

Ms. AVEY. Absolutely. That’s the whole design of the platform. 

Senator SMITH. Any of our regulators have a different opinion on 

that? [No response.] 

If you don’t that’s fine; that’s good news. 

At the 2006 hearing we heard testimony regarding companies 

providing DTC nutrigenetic tests that indicate various risk levels 

for developing cancer, Alzheimer’s disease, kidney disease, macular 

degeneration, rheumatoid arthritis, high blood pressure, and heart 

disease. In one instance a company even claimed to repair DNA, 

a claim that the company is still making as of this morning, even 

4 

though we heard testimony that this claim is scientifically unfounded. 

Tom and Steve, at the hearing you both expressed concerns 

about these health-related claims being made by these companies. 

Given that these companies, along with many new entrants into 

the market, are still in business and still making similar, if not 

identical, claims, you have to wonder how concerned the agencies 

are about consumer safety. Any response? 

STATEMENT OF THOMAS HAMILTON, DIRECTOR, SURVEY AND 

CERTIFICATION GROUP, CENTERS FOR MEDICARE AND 

MEDICAID SERVICES 

Mr. HAMILTON. I think when you look at direct-to-consumer testing it is extremely broad-ranging, and I count seven or eight dimensions. There’s the advertising and-or education, there’s the 

sales, the test ordering, the analytical validity—was the test accurately administered—clinical validity, and clinical utility, the interpretation of results, and then the communication of those results 

to consumers. 

With regard to any test that involves the analysis of human 

specimens for health care purposes, those would fall under CLIA 

and would be examined with regard particularly to the analytical 

validity. Whether or not they’ve engaged in false advertising on the 

front end transcends CLIA and I think that one of the things that 

is quite obvious about this all very challenging but very exciting 

field of ever-growing genetic testing is that it’s much larger than 

any of us. I think any one agency or entity that tries to address 

all the public policy issues here immediately confronts what our 

children may have learned as Miss Piggy’s fifth law. Never try to 

eat something that you cannot lift. No one agency has the heft to 

bring into solution, a solution to all of these issues. 

So that’s why I think the right tune here is not a solo, but a 

choir, if you will. If we can get all of our agencies and public-private partnerships to be a tune in harmony, a choir in harmony, 

then I think that would be ideal, and I think that’s why the 

groundbreaking hearing that you held, Senator Smith, was so important, and your continued leadership in this arena, because I 

think it takes someone such as yourself to bring everybody together 

to move this agenda forward. 

Senator SMITH. Do you know, Tom, in the last 2 years has there 

been any greater coordination between CMS, FDA, the FTC? 

They’re not at the table here, but we may have some FTC folks in 

the audience who can participate in the roundtable. 

Mr. HAMILTON. I think there definitely has, and we’ve been holding regular conference calls with CDC and the Food and Drug Administration and have been particularly working with the Centers 

for Disease Control. We’ve added a staff person at CMS, acting on 

one of the GAO’s recommendations, and she’s sitting behind me 

and that’s Penny Keller, specifically focusing on genetics, beefing 

up our capabilities to work in this area. She is working with the 

Centers for Disease Control on a best practices publication that 

will be coming out in their morbidity and mortality weekly report. 

We are working together with the Centers for Disease Control to 

make a recommendation to the Clinical Improvement Advisory 

5 

Committee at their September meeting to form a work group on 

proficiency testing to bring advances and more proficiency tests, to 

make them more available and put them into greater use. 

We are convening a work group, a convocation amongst the accrediting organizations in November to work on ways in which we 

can promote the availability and the use of proficiency tests. 

Those are a few examples of things coming together. I think Federal agencies are all pretty attentive to this now. 

Senator SMITH. The conference call you speak of, is that the 

inter-agency task force that we spoke of at the hearing, that there’s 

going to be an inter-agency task force to tackle this? 

Mr. HAMILTON. Well, there’s multiple inter-agency groups working on this. The proficiency testing would be not only inter-agency 

amongst the Federal agencies, but involving the accrediting organizations, someone from New York State since they are pretty advanced in this arena, and public-private organizations that can all 

collaborate to figure out the best ways to move the agenda forward. 

Senator SMITH. The best practices the thank you speak of and 

that we’re striving for—this is a legitimate field of medicine. I’m 

not suggesting that. What I am suggesting, though, with the proliferation of this category of direct sales to consumer, I wonder if 

there are best practices out there that are actually being followed. 

I wonder maybe, Steve, you’ve got a comment on that? 

STATEMENT OF STEVEN I. GUTMAN, M.D., DIRECTOR, OFFICE 

OF IN VITRO DIAGNOSTIC DEVICE EVALUATION AND SAFETY, CENTER FOR DEVICES AND RADIOLOGICAL HEALTH, 

FOOD AND DRUG ADMINISTRATION 

Dr. GUTMAN. Well, I think there are. I think that there are best 

practices that are general, so I think a lot of what’s in CLIA applies directly to the testing of genetics. But I think that the idea 

of the best practices is that there are enough nuances in this particular area that there needs to be perhaps some more specific 

guidelines or recommendations. 

I can speak to the interaction, not on a formal basis, but on an 

informal basis, and I can assure you there probably isn’t a week 

that goes by that there’s not some kind of informal or semi-formal 

interaction between our group and the CLIA group, either asking 

them for help in our premarket compliance program or offering 

them help in their inspection or compliance program. So there’s actually on an informal level, there is perhaps some outsiders might 

view it as a disturbing amount of communication and coordination. 

Senator SMITH. Is there a disturbing amount, Linda? [Laughter.] 

Ms. AVEY. We’re not disturbed. 

Senator SMITH. I’m curious, Linda. With your company, do you 

have a sense that the industry is developing with some best practices and standards that are designed to protect consumers from 

what they’re doing? 

Ms. AVEY. Yes, certainly we’re very engaged with all the agencies, I would say, as much as we can be, and open about what we’re 

doing and very open to the idea that we need new regulation. I 

think trying to fit this round peg, if you will, into the square hole 

of existing regulation is probably not a good fit. 

6 

But that said, we’re very open, and we applauded the hearings 

you had 2 years ago because we recognize, and I think coming from 

the scientific community, we saw what some of these other companies were doing and were appalled by that. We feel, very similarly, 

that this does need to be regulated in a very strong way. It’s just 

a matter of how can we do it and still allow the United States to 

be a leader in this field, because getting more genetic information 

and providing more people access to their genetics will move the 

field of personalized medicine forward, and if we block that we’re 

going to be stymied and stuck with the existing health care system 

that we have. 

Our overriding mission is to gather more data so that we can 

make these connections between people’s genetics and their health 

outcomes and translate the great research that’s going on into the 

clinic more readily. The SACGHS writeup really showed that 

there’s a gaping hole in this translational aspect, that we don’t 

really have a way to take the results that are now coming out in 

a flood from the research community of all these genetic associations and move them into clinical practice. How do we get those 

data into the clinics? If we don’t have a way to demonstrate clinical 

utility and validity, we’re never going to get there. 

That comes from having many, many people involved. We think 

the consumer has to be engaged in the process or it’s just never 

going to happen. 

Senator SMITH. Is yours a public company? I’m curious. 

Ms. AVEY. It’s a private company now. 

Senator SMITH. A private company. 

Ms. AVEY. We’re small. We’re a startup. 

Senator SMITH. If I were to own stock in your private company 

and I heard what you just said, that you were horrified about some 

of the new entrants into this field, how do you distinguish yourself 

from somebody selling snake oil versus somebody putting out a legitimate product? 

Ms. AVEY. The bottom line, it comes down to what the genetic 

associations are really—what’s out there, what do we know and 

what’s real, and what is not real, what’s been proven and what has 

not been proven. 

The research labs and our science team are working very closely 

together to say, look, this is all new, we don’t really know what this 

means yet. We need to start asking our customers. It looks like 

you’re at higher risk for type 2 diabetes based on your genes. Do 

you have type 2 diabetes or not? So that’s where we’re going to 

start putting out surveys to our customers to say, let’s start connecting the dots here. 

So we just see some of those other companies as putting their 

claims out way ahead of the science, where we don’t know yet, we 

have no idea what foods you should eat based on your genes. We 

just don’t know that yet. Some day maybe we will, but until we get 

there we’re going to be very true to the science and very responsible about that. 

Senator SMITH. So you would be welcoming the agencies’ efforts 

to try and formalize some of this so you can distinguish your company from some of the others that may just be selling a lot of prodVerDate Aug 31 2005 15:00 Mar 23, 2009 Jkt 000000 PO 00000 Frm 00010 Fmt 6633 Sfmt 6633 H:\DOCS\47953.TXT SAG PsN: JOYCE
7 

ucts to the injury of their customers or of creating false hopes in 

their work product? 

Ms. AVEY. Any claims about these data we think are really pretty premature. That’s why we put that out there that this is research data. We do feel like it’s best to engage with consumers 

through their own genetics because they get so much more interested and they really want to be educated when you’re talking 

about their own DNA, what they’re born with, what they’re going 

to die with, what does that mean for them. 

But we put it out there that we just really don’t know a lot yet. 

We keep saying, we need to do more research, we need to get more 

people involved. 

Senator SMITH. Kathy, I see you anxious to say something. 

STATEMENT OF KATHY HUDSON, PH.D., DIRECTOR, GENETICS 

AND PUBLIC POLICY CENTER, JOHNS HOPKINS UNIVERSITY 

Dr. HUDSON. Senator, you asked a very straightforward question 

at the beginning, which is, are consumers protected, are genetic 

tests safe? You asked that same question 2 years ago when you had 

your hearing and had the GAO investigation. I would argue that 

there have been no improvements in the oversight of laboratory 

quality, in the oversight of genetic tests themselves, and in the 

oversight of the claims made about those tests in the intervening 

2 years. 

There are conversations and working groups and meetings and 

conference calls, but we actually have not seen any actions. Despite 

your call for actions and continued attentiveness, which we appreciate, and the recommendations of now four expert secretarial-level 

advisory committees that there be changes in CMS, changes in 

FDA, changes in FTC, we actually haven’t seen so much as a notice 

of proposed rulemaking. 

So it’s great that the agencies are working together, and talking 

is really great, but action is even better. 

Senator SMITH. Any proposed rulemaking coming out of the advisory group? 

Ms. YOST. Definitely, yes. 

Senator SMITH. Go ahead, Judy. 

STATEMENT OF JUDY YOST, DIRECTOR, DIVISION OF LABORATORY SERVICES AND CLIA PROGRAM, CENTERS FOR MEDICARE AND MEDICAID SERVICES 

Ms. YOST. On proficiency testing requirements, but we’ve got to 

gather data, we’ve got to work with the experts in the field, we’ve 

got to determine a negative, and to identify which tests should 

have proficiency testing using scientific and technical expertise. So 

it’s going to take a little time, but the plan is definitely to propose 

new proficiency testing requirements, not only which tests are covered, but how they’re graded, how they’re monitored, how the PT 

providers are approved, and so forth. 

So the entire scope of proficiency testing is being reopened and 

reevaluated through our advisory committee process. 

Senator SMITH. Can you give us a sense of a time line? How 

much time do we need to gather all this information, all the data 

8 

that will make the difference to allow some rulemaking to go forward? 

Ms. YOST. Well, we’ve initiated a process starting in March and 

we have a plan to meet with the proficiency testing providers by 

November of this year. We’ve already gathered some preliminary 

data on the most frequently performed tests. We’re going to also 

look at tests that are clinically relevant and where proficiency testing materials might be available. We have a meeting scheduled 

with our accrediting organizations and with our advisory committee in September to develop a recommendation and to convene 

a committee to begin the deliberations on that process. 

So it will take some time on the front end, but the idea is that 

hopefully we will have a quality product then to be able to move 

forward with. 

Senator SMITH. Kathy, do you have a comment, or Steve? 

Dr. GUTMAN. Yes. You asked me the question about whether we 

thought we had authority over these tests at the hearing. Actually, 

there had been some ambiguity, so that was a well placed, well 

chosen question. I answered that we did. 

We haven’t made a lot of progress. I won’t pretend that we have. 

We have, however—we haven’t initiated rulemaking. We have initiated guidance to—again, we’re a risk-based organization, so we 

start with things that are the most worrisome to us. We’ve chosen 

a particular product line called in vitro diagnostic multi-variate 

index assays. That’s a mouthful, but what that is is—— 

Senator SMITH. Don’t ask me to repeat it. 

Dr. GUTMAN. What it is, you take a bunch of signals, you put 

them in a non-transparent black box or black blender, you grind 

them together and you come up with a magical score that’s somewhat not intuitive to the health care user. We thought that would 

be an interesting place to start in terms of changing that pattern 

in which we have applied enforcement discretion to these tests and 

deferred entirely to CLIA, to perhaps becoming partners in more 

active regulation. 

Senator SMITH. So would it help you to have Congress give you 

more statutory direction in this? 

Dr. GUTMAN. Yes. 

Senator SMITH. It would, OK. 

Yes, Elaine? 

STATEMENT OF ELAINE LYON, PH.D., ASSOCIATE PROFESSOR 

[CLINICAL] OF PATHOLOGY, UNIVERSITY OF UTAH SCHOOL 

OF MEDICINE, AND MEDICAL DIRECTOR, MOLECULAR GENETICS, ARUP LABORATORIES 

Dr. LYON. The issues we’re discussing here will be directing us 

in the laboratory community. We definitely have a stake in this. I 

want to discuss CMS’s comments on what is being done. I disagree 

with Kathy’s remark that nothing is being done because there is 

significant activity. 

We’ve been working with the CDC on a reporting initiative, how 

to communicate genetic information back to physicians. We’ve 

worked with the CDC in terms of getting reference materials for 

the validation of tests and for the proficiency testing. The CDC is 

9 

also going forward with a study looking at the clinical utility of 

these tests. 

So I believe in the genetics community and the laboratory community that there has been a lot of work moving forward to address some of the issues, to make testing better and safer for the 

public. 

Senator SMITH. I’d love to get the FTC up here too, if there’s anybody from the FTC here. 

Mr. DAYNARD. Do you mind if I stay here? 

Senator SMITH. That’s fine. 

One of the questions, along with the clinical practices and best 

practices, one of the other issues I’m concerned about is obviously 

privacy. Linda’s company says they only use it in a very limited 

way, with their permission. But what happens if somebody is selling the genetic information to somebody? 

STATEMENT OF MATTHEW DAYNARD, SENIOR ATTORNEY, DIVISION OF ADVERTISING PRACTICES, BUREAU OF CONSUMER PROTECTION, FEDERAL TRADE COMMISSION 

Mr. DAYNARD. Well, two points. I was going to answer the first 

question about our coordination with other agencies and what the 

FTC is doing. But we’re also very involved in privacy and security 

issues. That would be a serious problem. If there is a privacy policy 

that says, for example, ‘‘under no circumstances do we sell or rent 

or give away your protected health information,’’ and if in fact they 

did or in fact they didn’t have well-established security measures 

the FTC might take a very close look at it. 

On the claims issue—— 

Senator SMITH. You can see the damage that would be done to 

an individual if their genetic information was sold and it’s out 

there in the insurance market—— 

Mr. DAYNARD. Certainly. 

Senator SMITH [continuing]. They have some test, whether valid 

or not, that somehow says they have a predisposition to cancer. 

Mr. DAYNARD. Yes, absolutely. At the moment we don’t have evidence of that happening, but it may be happening. 

But what I’m looking at, and what we looked at very shortly 

after your hearing 2 years ago, was the claims issue. What we did 

quickly, in conjunction with the Food and Drug Administration and 

Steven Gutman’s staff and the staff at the CDC, was to issue a consumer alert warning them about issues that they should be aware 

of when they consider direct-to-consumer advertising. 

That we could do quickly. A law enforcement investigation can’t 

be done quite as quickly. But I can confirm that we have a couple 

of investigations in this area looking at the subject. 

Senator SMITH. So you’ve got all that you need? 

Mr. DAYNARD. Yes. I mean, the statute which declares that unfair and deceptive practices in or affecting commerce are illegal is 

pretty broad. We have done wonderful things with it, and I think 

we have jurisdiction in this area as well. 

Senator SMITH. You’re on the case. 

Mr. DAYNARD. Yes. 

Ms. YOST. I’d also like to mention, because the impetus for your 

hearing last time was the four DTC laboratories that had been 

10 

identified by GAO. Since that time I’d like to mention that we have 

collected a series of at least eight or nine of them, so we have been 

very closely monitoring them, and in addition, as the ACLS statement indicates that those that we identified aren’t doing testing 

that falls under CLIA. Some are just marketing. All of them have 

very different various functions and they’re all organized very differently. Sometimes they’re interrelated. 

But that said, those that are actually performing testing that fall 

under CLIA have been required to obtain a CLIA certificate and 

obviously assessed as to their compliance status. So we have made 

a tremendous amount of progress, I would think, since then, and 

we continue to do so. Now that we have expertise and we are working much more closely with FDA, we have the ability to look at the 

types of tests that they are performing and verify their validity. 

Senator SMITH. The four labs we identified at the time, you’re on 

top of that? 

Ms. YOST. Yes. 

Ms. AVEY. I’d like to add to that, Senator Smith. This is something that we interacted with CMS on as well. When we first started, it was unclear whether or not CLIA was the right oversight for 

what we were doing, because we don’t really claim ourselves to be 

a specific clinical test. We look at 600,000 data points in your genome and then tell you what we know based on the research. So 

it’s not a test per se, but nevertheless we were notified by CMS. 

We were working with a very high quality laboratory, but it was 

not CLIA-certified. But after the interaction with CMS, we did 

switch to a CLIA-certified laboratory. Then we did tests back to see 

how well the data correlated. We ran the same people in the previous lab and then in the CLIA lab and got over 99.9 percent concordance between the two labs. So we felt very good about our previous lab, but now we’re working under CLIA oversight, which we 

do think is the right thing. 

Senator SMITH. I’ve got a question for you, Greg. But before I get 

to it, Kathy and Elaine, you disagree on a point, whether anything 

is being done or not. I wonder if we can explore that just a little 

more. 

Dr. HUDSON. I applaud the efforts that CMS has undertaken to 

identify what laboratories are offering these tests and to bring 

them into CLIA compliance. The problem is that CLIA, as it stands 

today, just isn’t enough. 

It’s great that they’re moving now toward proficiency testing requirements. The Secretary’s advisory committee made a very 

straightforward recommendation, which was that if a proficiency 

testing program exists, and you perform that test, you must participate in that program. Proficiency testing is like a pop quiz for a 

laboratory. You get a sample, you have to do the test for the disease, cystic fibrosis, sickle cell anemia, send the result back, and 

if you get it right you pass, and if you don’t get it right, authorities 

are alerted that you’re sub-optimal. 

That’s important. Getting the right answer is important, and 

knowing the meaning of that test result is important as well. 

I’m encouraged that CMS is moving in the right direction, but 

again, it’s been 10 years since the first recommendation for proficiency testing requirements. 

11 

In terms of the claims that are made about tests, I agree with 

Linda that the platform that she is you’re using is incredibly, incredibly reliable. But the information that’s made available about 

the tests is more uncertain. Let me give you an example. 

Robert Green, who’s a neurologist at Boston University, spoke at 

an event earlier this week. He has had his genome done, and he 

showed the results. He had his genome done—sort of like you get 

your hair done and your nails done, you get your genome done— 

at both 23andMe and a sister company, Navigenics. For his variations for heart disease one company said, ‘‘You have a heightened, 

greater than population risk for heart disease.’’ The other company 

said, ‘‘You have less-than-population risk.’’ So they gave absolutely 

contradictory information. It turns out that he had an incredible 

risk for heart disease because in fact he had a major cardiovascular 

event and a triple bypass. 

So if two companies testing the same variation’s give you two different answers, we’ve got a problem on our hands. 

The head of the genome office at CDC, Muin Khoury, recently 

published a paper in which he said there’s insufficient scientific 

evidence to conclude that genomic profiles are useful in measuring 

genetic risk for common diseases. 

Senator SMITH. This is the point of the hearing to begin with. 

The information that can come out of this is so explosive and can 

be interpreted so differently. My concern with direct-to-consumer 

sales, not that they can’t be made appropriate, but that they can 

be used in a very destructive way, and people will go get the wrong 

treatment when they ought to be getting the opposite treatment, 

and their information can be disseminated in the insurance market 

in a way that would make them uninsurable. 

That’s why this is an exciting new field in medicine and we need 

to pursue it, but we’ve got to have—time is of the essence to put 

up the kinds of standards and best practices and regulatory barriers so that we’re not leaving the consumer behind in this. 

Dr. LYON. There is room for improvement and I won’t deny that. 

I think that what we do as a CLIA-certified laboratory, we can 

really make improvements under CLIA and under CMS, and I 

don’t believe that there really needs to be additional regulation. 

However, there can be additional improvements. 

It is true that for these genome-wide associations, the science is 

just coming out with them and it may be not be strong enough 

right now for me to be able to interpret what the tests mean. That 

doesn’t mean we shouldn’t go forward with the science to get that 

understanding. 

On the other hand, a lot of new genetic testing is being thrown 

in with the mix which is really standard medical care. That needs 

to be differentiated. We design, perform and validate laboratory-developed tests. I brought some of our validations and can show you 

what we do as laboratories to validate these tests. 

As new issues come into play, which is really where we are— 

we’re on the verge of going from single gene disorders—such as we 

know the gene that causes cystic fibrosis; I know to look for 

mutations in this gene and for the most part I know how to interpret it—to looking for all of the genes that may cause some type 

12 

of lung disease. We need to go forward with that. There are definitely reasons to do so. 

But that shouldn’t be confused with what we are doing right now 

in the practice of genetic testing. 

Senator SMITH. Greg. 

STATEMENT OF W. GREGORY FEERO, M.D., PH.D., SENIOR ADVISOR TO THE DIRECTOR OF GENOMIC MEDICINE, NATIONAL HUMAN GENOME RESEARCH INSTITUTE, NATIONAL 

INSTITUTES OF MEDICINE 

Dr. FEERO. I’d just like to first make the comment, I think we 

all are sort of in a privileged position right now to be dealing with 

a wealth of information that we don’t exactly know what to do 

with. I’d say that what we have right now is a lot of data and 

somewhat less wisdom as to what we should actually do with that 

information. 

I think there are a couple of things that really need to be 

thought about. One is the science is evolving very, very rapidly, 

and I think the systems we have for dealing with that rapid evolution don’t—can’t really keep pace with that evolutionary process. 

Over the last few years, we’ve seen discoveries for literally hundreds of new genetic associations in I believe 40 common disorders. 

That pace is accelerating. 

It’s, I think, a natural outgrowth that various elements in industry would see potential advantage in working with that wealth of 

information. In many ways, some of those companies, the responsible ones, may be on the vanguard of figuring out how to exactly 

deal with that information at the end. 

There’s a really broad spectrum, of groups offering testing some 

that are clearly doing things that are very egregious. However, are 

folks on the other end of the spectrum that are doing diagnostic 

testing that’s well established. 

Then there’s this great grey zone in the middle that we don’t 

really have a good handle on how to deal with at this point in time. 

Simple questions like what defines a medical test are very difficult 

to answer when you start talking about these things. Do you draw 

the boundary at Ann’s asking questions about Ann’s ancestry? Do 

you draw the boundary when you start to talk about things like eye 

color or your muscle fiber types? Do you draw it at the boundary 

of predictive, potentially predictive genetic testing for late onset 

disorders? Clearly I think most people would agree that that’s 

where you start to think that, yes indeed, you’re on the medical 

end of the spectrum, But answering where that starts is I think a 

real challenge. 

We really need ways to be as nimble as possible as this area rolls 

out to deal with these topics. Which is a great challenge. The larger 

issue of measuring the utility of these types of tests is going to be 

critical as we move down the line, because we’ll have the opportunity to do many things in our health care system and it’ll be less 

clear as to the added value of each of those items. 

Right now I think we’re just sorting out what the pipeline looks 

like for this area as it moves forward for determining that utility. 

Senator SMITH. Greg, in February of this year there’s a company 

that started issuing, selling a genetic test to determine bipolar disVerDate Aug 31 2005 15:00 Mar 23, 2009 Jkt 000000 PO 00000 Frm 00016 Fmt 6633 Sfmt 6633 H:\DOCS\47953.TXT SAG PsN: JOYCE
13 

ease. Mental health is an issue that matters a lot to me and I’m 

trying to push it forward as a coequal part of health care. I understand you’re aware of this, that you’ve lent tacit approval to the 

company’s test. That’s what I’ve been told. 

Dr. FEERO. I would disagree. When that article came out, I have 

to say I was chagrined. I was even more chagrined when it came 

to me last night that that might potentially be on the discussion 

today. 

Senator SMITH. Can you genetically test for bipolar disorder? 

Dr. FEERO. Bipolar is a clinical diagnosis at this point in time. 

Senator SMITH. Not a genetically determined—— 

Dr. FEERO. Not a genetic—well now, it has a genetic component 

to its causality certainly. 

Senator SMITH. OK. 

Dr. FEERO. But it is not diagnosed using genetic testing—I was 

trying to make a fine point with the reporter in that case, that 

using a test in a totally predictive manner in an asymptomatic person is different than using a test in an individual who already has 

symptoms that make them more likely to have the disorder you’re 

talking about. So sort of the analogy might be to use a white blood 

cell count. In somebody who’s perfectly healthy interpret what an 

elevated white blood cell count means, is very different than in the 

use of somebody who has a fever and a cough which is productive 

of sputum. It means a very different thing when you see a high 

white cell count in that person. 

I think they didn’t quite get the distinction I was trying to make. 

Senator SMITH. Does it concern anybody that there’s a company 

out there selling genetic tests to determine bipolar disorder? 

Should that be done with a doctor or through the mail? 

Dr. FEERO. I would say that if you look at their site they’ve 

qualified it. But the question is do people understand the qualifications that they’ve put into it. That’s really the big question when 

I look at this type of thing, is will the consumer and the health 

care provider, frankly, be able to understand this area sufficiently 

to make a determination as to the value of the proposed application. 

Senator SMITH. Yes? 

Dr. LYON. When I heard this from Chris, I went to the Internet 

site to see if I could find out what was going on and what it was. 

In doing that, I needed to go back to the scientific literature and 

read to see what the science really was. 

There is a modest association, according to the published abstract. That does not mean that it’s ready for prime time. 

The unfortunate fact is that when I went to that web site I 

couldn’t get to the details of their test in order to make a judgment 

on whether it was actually good or not. 

Senator SMITH. Yes, Kathy? 

Dr. HUDSON. That actually raises a really important point about 

the transparency of information. So even if there’s not a heavy 

hand of regulation for these tests, we need to make sure that consumers and physicians and others have access to information about 

the scientific evidence on which you are basing your claims, so that 

we can all tell the truth to one another, at least know what the 

truth is. 

14 

Right now you can’t. It’s very difficult in many cases to know 

what’s the scientific evidence underlying the claims that a company 

is making in selling a particular test. 

Ms. AVEY. I want to go back to what Kathy said earlier about 

the seeming discontinuity between the heart disease predictive 

markers between the two companies, Navigenics and 23andMe. 

That is something that we are going to address. The good thing is 

both companies are very transparent about how we do these risk 

calculations. You can do these in very different ways. There are a 

lot of assumptions that we have to base it on, whether it’s average 

risk in a population, whether it’s lifetime risk. 

Again, we’re very clear about that, but that might be partly why 

Bob Green ended up with two different end points through these 

different services. 

So we’re meeting with Navigenics on the 17th of July to start 

working together to develop our own internal standard so that 

we’re not confusing people, and that we’re at least using some of 

the same criteria for how we come up with these risk assessments, 

if you can even call them that, because it’s based on research data. 

Senator SMITH. I have to—that buzzer you heard means I’ve got 

to go vote. Unfortunately, the leadership doesn’t check with me on 

my schedule when they schedule a vote. But that’s life in the Senate. 

I’m not doing anything today more important than this. This is 

really exciting stuff. It’s a whole new era that we’re in. But it can 

be dangerous. That’s why I’ve asked you to come together and to 

keep the focus on this, because we’re focused on it. If we need more 

legislation, if you need more authority to get this right, we’ll help 

you with that, because again it’s exciting, it can be troublesome too. 

We’ve got to get this right. The sooner we do it, the better off the 

American people will be and the better off health care will be. 

So with that, if you’ll excuse me, and with my apology for having 

to go answer this vote, I’ll turn it over to my staff. I thank you all 

for being here. You’ve added measurably to moving this forward in 

a constructive way and to the record of the U.S. Senate. So I thank 

you all for your time. 

Ms. HINKLE. Well, so we jumped right into the questioning and 

I’m wondering if now, an hour into it, we might be well served by 

backing out a bit and covering maybe some of the broader aspects 

of genetic testing, and then we’ll dive into a few technical and 

nitty-gritty bits. 

For the audience, there will be an opportunity for you to engage 

in some Q and A during the last 15 minutes or so of the roundtable. We’ve passed out some cards on your chairs. You can hand 

those to our staffer in the back there who’s waving her hand if you 

have questions. Or you can just feel free to come up to the middle 

here, where there was supposed to be a microphone, but isn’t unfortunately, and ask the question yourself, whatever you prefer. 

Let’s back out. Let’s take an overview of genetic testing. Anyone 

who wants to jump in and set the stage, just very succinctly tell 

us, where have we been with genetic testing, what advances have 

we seen over the past couple of years? Who’s really using genetic 

tests and in what capacity? 

15 

We know that patients, doctors, researchers, even law enforcement are using genetic testing. So maybe someone could just give 

us a quick overview? Anybody? Greg? 

Dr. FEERO. A quick overview of what defines a genetic test. I 

think there have been probably week-long arguments over what exactly defines a genetic test. Is a genetic test simply a molecular diagnostic assay that you might use to determine whether or not 

there is hepatitis virus present in someone’s serum? Or is it only 

testing for rare genetic disorders in the context of someone’s germ 

line? 

There aren’t clearcut answers for that. I would say that in the 

main, the vast majority of genetic testing with a fairly strict definition of what you mean occurs in the realm of relatively uncommon 

to rare diseases. For this type of testing there is much less question, I think in general, about the sort of systems that are in place 

to deal with the topic. 

What we’ve seen in the last few years is a profusion of sort of 

this new type of testing, which looks at variants across the genome 

that are merely associated with the disease, rather than necessarily causal, and then an attempt to use those variants in sort 

of a predictive prospective manner to inform people about various 

things, ranging from, as I mentioned, eye color and ancestry to 

whether or not they’re going to develop Alzheimer’s disease or cardiovascular disorders. 

I think the profusion of this sort of predictive testing with associations is really one that has brought this question to the fore. 

We’ve been waiting a very long time, I think, in the scientific and 

medical community to finally crack into the understanding of common chronic diseases that have a component of both genetics and 

environment contributing to their causality. We finally made that 

crack and—the rush is to try to use that information in a way 

that’s beneficial. 

Ms. HINKLE. I know that clearly one of the frequently cited concerns about genetic testing in the DTC arena is the absence of a 

qualified medical provider to help patients interpret the results. 

The American Medical Association is going to be voting on a resolution at its meeting again I guess restating and further enhancing, 

further expounding upon its opposition to DTC testing. 

I guess my question to you particularly as the provider at the 

table is, who is qualified to interpret these tests? What is a qualified medical professional? 

Dr. FEERO. I think that that is a question which is very dependent on the context and the type of test that you’re talking about. 

There clearly, even now with the more rare conditions, is a spectrum of who’s qualified to interpret what type of test. 

So for example, a general internist might be quite capable of interpreting a test for clotting abnormality in the form of Factor V 

Leiden. It’s a relatively straightforward test. Internists and family 

physicians order these quite frequently. However, I would say that 

the average internist at this point in time is probably not adequately trained to fully interpret a complex result from a BRCA– 

1 or BRCA–2 testing. In that case, it would be best handled by 

someone who has formal genetics training in the form of a medical 

geneticist or a genetic counselor or a nurse geneticist. 

16 

Ms. HINKLE. Do most patients have access to that level of care? 

Dr. FEERO. There is a great disparity, I think, right now in the 

current genetics community between the sort of profusion of new 

types of tests that will need to be dealt with and the actual amount 

of manpower that’s present to deal with the information as it 

comes out. Hopefully I’m not misquoting this, but this year in the 

match in the United States, which is the process by which medical 

students select their residency, the statistics for those people 

matching in medical genetics, suggested that there was one U.S. 

medical graduate that matched for medical genetics. 

Ms. HINKLE. One? 

Dr. FEERO. Yes. So there’s clearly a big manpower issue. 

For example, I was in a talk earlier today where a family physician was presenting some data from a survey that they did that 

showed that 11 percent of family physicians that they surveyed reported that their patients had to drive over 2 hours to get to the 

nearest medical genetics professional. So there’s a great disparity. 

Dr. LYON. We have realized that what used to be ordered by geneticists is now being ordered by other physicians, and because of 

that it’s very important to communicate well what the results 

mean. So a laboratory’s role is not just to give a result, but we do 

need to give an interpretation of what that result means. 

One of the programs that I’ve worked with at the CDC is their 

reporting initiative to get the information so it is understood by a 

general practitioner or a family practice physician. 

Ms. HINKLE. So let’s say I go on line, as I have here to 23andMe, 

and this is just their demo site here, so this isn’t any real health 

results. But I get a whole profile like this. Let’s pick something at 

random. I ordered it here on the web page by what 23andMe has 

listed as the most established research for. How about restless leg 

syndrome. So I’m going to learn some genetic information. 

As I’m logging in, tell me. So I go on line, I get these test results. 

To whom do I take them if I want assistance in understanding 

what these results mean? 

Ms. AVEY. We actually have some information now back from our 

customer base, because we launched in November and we have 

thousands of people who have signed up and who are now using 

our service. We take all of their questions. Most of the questions 

are about ancestry, or ‘‘I forgot how to log in,’’ or ‘‘I don’t know how 

to get to my data.’’ It’s been more about the use of the web site. 

We have to get better and better at how we direct people on how 

they go through the service so they get the information they’re 

looking for. We have found that people are not really asking questions like ‘‘What do I do with these data, who do I go to talk to? 

But we’re following this closely. 

In the mean time, we’re aligned with other companies in this 

space, and we agree that this information is going to start getting 

into the hands of a lot of people, and the medical community, especially the medical genetics community, will not be prepared to really catch this on the other side if a lot of people are having questions. 

So we’re having webcasts with the Genetic Counseling Society. 

We’re reaching out to physicians. We’re working with NCHPEC, 

we’re talking to Muin Khoury at CDC. We think we have to do this 

17 

in a very broad way and a very scalable way, because if we just 

have a few people who are educated about this information it won’t 

be a system capable of handling the load of people who might start 

having questions. 

We try to pack a lot of information about the fact that most of 

the diseases you see are not just genetically determined; there’s a 

big environmental component. So for type 2 diabetes we put that 

out there. It’s only about a 25 percent genetic disease. Your environment plays a much bigger role. 

So once people read through that information, a lot of times they 

say, OK, it is what it is, but they may not have increased risk for 

a lot of the diseases, because I think a lot of our customers are, 

luckily, very healthy. Then they go and they look at their ancestry 

information and that’s where they start having the questions, because it’s something that they’ve never seen before and it’s not 

something they’ve really thought about before. 

Ms. HINKLE. Linda, earlier in speaking with Senator Smith and 

actually in our earlier conversation as well, you certainly distinguished what you offer from the nutrigenetic tests that were the 

focus of the hearing 2 years ago. While I think certainly maybe the 

type of testing or the labeling of the testing is the same, I also find 

many things in common with the results that you offer. That is, 

though, much like on those web sites, you disclaim making any sort 

of diagnostic services and that this is strictly for educational purposes, as a consumer when I read something that is telling me 

what type of odds I have of getting a condition, and as we see up 

here, an odds calculator, when that’s telling me increased risk, decreased risk, that to me sounds like a health diagnosis. 

This was exactly the same question that we posed to the FDA 

and CMS with respect to the nutrigenetic testing and whether or 

not these really were the type of health care claims that would fall 

within the ambit of your jurisdiction. So are these types of results 

to you really different than the nutrigenetic tests? Is there really 

a distinction there? I guess where do we draw the line in genetic 

testing, where one type of genetic test falls under a different type 

of regulation, or the laboratory would? 

Dr. GUTMAN. Well, actually I would probably—I do think Greg is 

right, it’s nuanced when you start moving toward whether you like 

particular apples or vegetables or where your grandfather might be 

from. I don’t think it’s so nuanced when you say, well, whether it’s 

a definite possibility, a reasonable possibility, a possible possibility. 

Are you starting to associate—from FDA’s—I’m not a lawyer, but 

from FDA’s perspective, it seems to me the definition is pretty 

clear. We have a very broad interpretation of ‘‘diagnostic.’’ So that’s 

clearly a health claim. You can put for informational purposes, you 

can put not for real use, this is pretend. You can’t duck it. It’s the 

old thing, if you quack and you have a beak and you waddle, you’re 

probably a duck; you’re probably not a horse. 

Ms. HINKLE. So these look like diagnostic claims? 

Dr. GUTMAN. Yes. But it begs the issue. I think it’s an incredibly 

complex issue. I think the fact that we at FDA haven’t moved faster or that others haven’t moved faster or, you know, we’ve only got 

the SACGHS report for 8 weeks. To reinforce, as Kathy pointed 

18 

out, it’s not exactly a fundamentally new construct that suddenly 

popped up. 

Actually, what was striking about the SACGHS report from my 

perspective is, one, it did reinforce what had been said before at 

least a couple of times. Then it opened this incredible door that 

somebody finally figured out that the utility was actually important. I feel sorry for whoever gets stuck with that. 

From the agency’s standpoint, while we’re from the government 

and we’re here to help, it is a big task, so we would be careful 

about what we wish for. I remember saying that at SACGHS as 

they struggled over whether to put FDA in or not, is that we’re not 

terribly worried about job security right now, we’re not sitting 

around. But we do think—I do think; I shouldn’t represent the 

agency in this comment—that there is some value to independent 

review, whether FDA does it, whether CMS does it, whether it 

turns over and 23andMe becomes an accrediting agency for ACLA. 

There is some value to independent, financially independent, intellectually independent, absolutely agnostic in terms of technology 

and claims—there is some value that somebody might want to step 

in here and look at independent review. 

I think that’s hidden in the 200 pages of the SACGHS report— 

not that well hidden, it’s actually kind of obvious. So I personally 

think that’s a good idea. I don’t know who should do it, but that’s 

a good idea. 

I think on the issue of confusion—I thought the point was 

made—certainly I do think the average doctor is having trouble figuring out what a pro-time means, much less what a new genomic 

marker for brain cancer or Alzheimer’s disease or bipolar disease, 

which I think is absolutely a medical claim that’s very confusing. 

I can’t imagine a direct-to-consumer patient actually sorting 

through that and starting to self-diagnose bipolar disease. That’s 

just absolutely frightening. 

I think doctors have problems, maybe even the genetic counselors. When you take the brand-new cutting edge molecular signatures that have no literature, are brand-new, or literature from a 

single source, they’re going to have trouble. I think that speaks to 

Kathy’s request for transparency and that the leitmotif both among 

people who swear at FDA, or swear by FDA, is that nobody seems 

to speak against the idea of more disclosure, of having transparency, of having registries. Nobody says who’ll fund it, whether 

it will be mandatory or voluntary, who will administer it, how do 

you assure financial and intellectual independence, how do you 

communicate the results. 

So there are some niceties that haven’t been addressed, but nobody seems to speak against that. The more you can get information out there, then the more likelihood that, whether they be a 

Ph.D. from Harvard in genetics or my mother-in-law, that they 

might have some chance at least of reading and getting a straight 

answer on whether there were three samples or 3,000 in the 

credentialing of the test, whether the test was established using 

well-established goals, standards, and brilliant literature that map 

a course or using an article in the ‘‘Gutman Journal of Unusual Results.’’ 

So I think that—— 

19 

Ms. HINKLE. We’ll get a subscription to that. 

Dr. GUTMAN [continuing]. It’s a timely topic to bring up and we 

from the FDA, from the government, we are interested in understanding how we can help and not hurt. 

Ms. HINKLE. We’ve talked a lot about the genetic tests that we 

sort of have a sense are not appropriate for direct-to-consumer 

use—I guess I would ask you what genetic tests are appropriate for 

direct-to-consumer use right now? Or are there any? 

Dr. HUDSON. Can I respond? 

Ms. HINKLE. Oh, absolutely, Kathy. 

Dr. HUDSON. I think ultimately there’s going to be a large number of tests that will be appropriate for consumers to access, and 

there may be some now. If there was a test that could tell me 

which over-the-counter medicine would work best for me, why do 

I need to have a doctor order a test to tell which over-the-counter 

drug to use? 

Ms. HINKLE. We’ll come back to pharmacogenetics and 

pharmacogenomics in a bit. 

Dr. HUDSON. So I think that the tests that we need to worry 

most about in terms of direct-to-consumer access are those tests 

that are high risk. We can talk about what risk really means. I 

think high risk means when you’re going to make an important 

health-related decision based on the result of that test. 

So if you’re going to go to the gym a few more times, who cares? 

If you’re going to start buying more Q-tips because you have sticky 

earwax and not dry earwax, who cares? But if you’re going to make 

important health-related decisions based on that test, then I think 

that sort of moves it over to a more important category. It would 

be impossible, and will become even more impossible, for Judy and 

Tom and Steve and Kate to oversee all tests. There were 40 associations last year, or we’re up to 40 validated? So this is going to 

become a tsunami that’s going to drown these guys. So they have 

to be able to be selective about what’s important. I think what’s important is what’s important to the consumer and the consumer’s 

health. 

Ms. HINKLE. Yes? 

Dr. FEERO. A quick point. I’m a little reluctant, I think, to paint 

the types of associations you see up there in the same category as 

things that went on in the past with nutrigenomics, because to 

some extent the fundamental scientific underpinning of the actual 

association is actually very sound now. The science—— 

Ms. Hinkle. In just 2 years it’s evolved? 

Dr. FEERO. It’s evolved considerably. So these associations are 

quite robust. The difficulty is that they provide relatively meager 

predictive capabilities. So any one marker, for example, associated 

with, say, type 2 diabetes, may elevate your risk only by 1.2 or 1.4- 

fold. 

Ms. Hinkle. Don’t you think that’s why most people are getting 

these tests, though, because they want to know, am I going to get 

cancer, am I going to get Alzheimer’s? 

Dr. FEERO. The difficulty is in how do we interpret and utilize 

those very small risk increases. There may come a time ultimately 

where we have, say, 40 markers identified, we know how to assemble them into a panel, we know how to compare that to the enviVerDate Aug 31 2005 15:00 Mar 23, 2009 Jkt 000000 PO 00000 Frm 00023 Fmt 6633 Sfmt 6633 H:\DOCS\47953.TXT SAG PsN: JOYCE
20 

ronment the individual’s in, and we can give them an accurate risk 

prediction based on that. 

But we’re very early on in sorting out what to do with those bits 

of information. But that doesn’t mean that ultimately there may 

not be utility in this. We’re just so early on. 

Ms. AVEY. Again going back to my earlier comment, what we see 

lacking right now is the ability to translate this tsunami into something clinically relevant and clinically useful. That’s really the role 

we see ourselves playing. If you go back to the list of all 70 different traits that we’re showing, we have now the little icon for 

surveys that we have along these disease lines. So what we’re 

going to start doing is asking our customers to give us information 

back, answering questions such as ‘‘Do you have type 2 diabetes?’’ 

My brother-in-law has type 2 diabetes, but he wouldn’t know it 

from his risk profile through his genes. It likely means his environment has had the most impact on his getting the disease. So he 

looks at this and he feels empowered to say, no, these genes, even 

though I have the disease, don’t look like they light up in me. So 

that means either we don’t know enough about the genetics of this 

or I’ve got the environmental gun loaded and pointed at me and I 

have to do as much as I can to change my environment. It’s not 

a genetic thing for me personally. 

So it’s about gathering up all this other information and empowering our customers to tell us and have them be active participants 

in the continuation of these studies, rather than having it go on in 

the research community and the Science and the Nature papers 

come out and the scientific community reads all of that, the New 

York Times picks it up, maybe sometimes the Wall Street Journal 

writes about these studies, and people think, ‘‘Well, what does this 

mean for me? I want to know what this means for me personally?’’ 

That’s the sentiment that we’re hoping will help drive additional 

studies and get more people involved directly. 

Ms. HINKLE. It’s interesting you picked type 2 diabetes. If I recall 

correctly, maybe just a week or so prior to the 2006 hearing NIH 

had issued a press release regarding genetic testing and type 2 diabetes and, although they acknowledged some of the predictive testing computers, they actually discouraged consumers from undergoing routine testing, genetic testing for diabetes. 

Has the science evolved on that particular condition enough in 

order to make routine genetic testing now more sensible? 

Dr. FEERO. You didn’t ask me directly the question would I subscribe to one of these services at this point. 

Ms. Hinkle. I was going to actually ask everyone if anyone at 

this table had undergone genetic testing, if anyone wanted to actually share. 

Dr. FEERO. So if a patient came to me right now and asked me 

this question in my office, what I would say is that there is great 

promise in this area in general, but we are at a time that’s too premature to fully utilize this information. We’re really in a discovery 

phase, and that if you are looking to use this to change your health 

care at this point in time, it’s probably not appropriate. 

Ms. Hinkle. Then I’ll ask you in public now, so hopefully you 

won’t feel too put on the spot. The question I asked to you when 

we chatted on the phone is. Why should consumers spend $1,000 

21 

on your test if you yourself admit that the scientific claims are a 

little premature at this point? It seems like you guys get a good 

deal out of it. You get lots of DNA for research purposes, and even 

the disclosures on your web site basically say that your DNA sample is ours once you give it over, that you guys claim ownership in 

the spit sample that I sent in to you, and I think that that’s probably something that most consumers maybe don’t realize. 

I mean, let’s face it. How many people in the room read the fine 

boilerplate? I’m an attorney and I don’t half the time, shame on 

me. But I did actually sit down and read all the disclosures on your 

web page and I have to tell you, at this point in time I wouldn’t 

be prepared to submit a DNA sample to you because I’d be very 

nervous about the research that was being done on it. 

So assuage my concerns. Tell me why my DNA is in good hands 

when I turn it over to you? 

Ms. AVEY. Well, the first thing is that you don’t have to participate in extended research. 

Ms. Hinkle. Any research? 

Ms. AVEY. The research requires us to collect additional information from you. If you never fill out a survey, we’re not going to be 

able to have you be part of the studies that we conduct, because 

we need the phenotypic information. We need to know whether or 

not you’ve had breast cancer or if you’ve been diagnosed with autism. 

That’s the information that we will use and that will be voluntarily submitted by customers who are very interested in participating in the research projects. 

Similar to how you see people signing up for the Susan G. 

Komen walks people who have a family member, co-worker or a 

friend who has breast cancer are wanting to do these things. So 

when we talk to people that say, yeah, I don’t have breast cancer, 

but my sister did, and if I’m a healthy control for a study that I 

could be part of, sign me up. 

So it’s really more when someone has a disease and they’re very 

interested in sharing that information. That’s partly who we’re seeing signing up for our service, because they get the message that 

not only do you get this preliminary view of what’s going on in the 

research community, you will be able to be enrolled in these 

projects, in these studies. 

But hey, if you’re healthy and your life’s going along great, this 

probably isn’t for you. It’s completely voluntary. So we say that 

right off the bat, that this isn’t for everybody. 

Ms. HINKLE. So I spit in the cup, I send the sample off to the 

lab, and the sample’s destroyed? 

Ms. AVEY. At this point, yes. All we do is we extract the DNA 

out enough to do the genotyping and then we discard the sample. 

Ms. HINKLE. The results or the data from that, if I don’t want 

you to ever use it for anything other than just returning the results 

to me, it will never be data banked, you’ll never use it for any further analysis or research, even if it’s anonymized and in the aggregate? 

Ms. AVEY. If you choose, you can get your initial snapshot. So 

you could go in, sign in to 23andMe, print out all of the information 

that we have on the web site that’s pertinent to your data, and 

22 

then you can download your data. You can take your whole data 

set, and then you can come to us and say, delete my file, and we’ll 

delete it. 

So you have that choice. If you don’t want to get the continual 

updates—every month we have more and more information coming 

out. So what we’re finding is our customers are saying, give us 

more, we want more information, what about that study that came 

out about ‘‘such and such’’ that’s why we added the other category 

of preliminary research, because things do end up in the New York 

Times and then our customers say, well, why didn’t you guys cover 

that one? 

There was one study that came out about how well you learn 

from your errors. It was in a major journal. But we didn’t think 

that was appropriate because it was a very small sample size and 

we thought the study was way, way, way too preliminary; not bad 

or good, just not enough information yet. But because of that we 

put it in our preliminary research category and we put one star on 

it. So we have a way now to categorize what’s preliminary. Maybe 

a study will prove the test of time. Maybe we will actually find 

genes for whether or not you can learn from your mistakes. But we 

don’t want to be the judge to what our customers are interested in 

learning. But we just have to put the right caveats around the 

data. 

Ms. HINKLE. Let me ask you a question a bit about maybe sort 

of the future of genetic testing. I posed this question to many of 

you already. Are we looking at a scenario where some day, perhaps 

even soon, we’ll be having genetic tests sitting on the shelf next to, 

say, pregnancy tests or diabetes testing strips? Where are we headed for genetic testing? 

Or maybe I’m going to get the perfect genetic match in my love 

life, so I should invest quickly and establish a genetic sort of dating 

service. Danny and I, actually that’s going to be our million dollar 

idea, so nobody steal it from us. Well, there you go. Someone already scooped me. 

What do you guys think? Thomas, you’ve been terribly quiet 

today. I’ll put you on the spot. 

Mr. HAMILTON. Well, I don’t think you want the government 

making predictions about the future. 

Ms. HINKLE. Everyone’s on the edge of their seat waiting for you 

to speak, the great oracle. Come on. 

Mr. HAMILTON. You were asking if we had ordered tests. I 

haven’t personally, but I probably will order the Alzheimer’s test 

because on one side of my ancestry it’s not just rampant Alzheimer’s, but Irish Alzheimer’s. 

That’s when you forget everyone you know except those against 

whom you hold a grudge. [Laughter.] 

I just haven’t seen this particular phenotypical variant show up 

in the questionnaires. But when it does, let me know. 

Ms. HINKLE. Maybe we can get some grant funding for that research for you, Tom. 

Maybe we’ll chat a moment about some ownership issues, since 

I grilled you so mercilessly on the DNA samples. Who should have 

rights to the DNA material when I do actually either provide my— 

when I provide a blood test or saliva or a cheek swab, be it a physiVerDate Aug 31 2005 15:00 Mar 23, 2009 Jkt 000000 PO 00000 Frm 00026 Fmt 6633 Sfmt 6633 H:\DOCS\47953.TXT SAG PsN: JOYCE
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cian-ordered test or a direct-to-consumer test? Who owns that 

DNA? Who should own it? What good use should we be able to 

make of it as clinicians, as researchers? 

I have a rare health condition and there could be great medical 

cures developed from my DNA. Do I have the right to say no? Does 

the government have the right to come take it from me? What are 

we looking at as far as the future there? 

Dr. LYON. I can talk about what we are doing right now. With 

the samples that come in, the residual samples that we have are 

very important for us as we continue to validate and continue to 

work for new tests coming on. There is a way for anybody who 

sends their sample in to us to opt out of using their sample for validation and education purposes. 

There needs to be a distinction between research and what the 

laboratories need to do to keep tests validated. So we make the assumption that we can use that DNA unless we are asked to discard 

it. If we are asked to discard it, we do so. 

If we want to do research on it, we work with an internal review 

board, the IRB. We need to go through the entire IRB process, 

which includes the informed consent and the understanding of the 

study. So we have this dual process. One is to be able to keep our 

tests validated in the clinical laboratory—those are anonymous and 

we cannot go back and link any new information or finding to the 

patient—or research, where we go under a research protocol which 

does ensure confidentiality and ensures what the internal review 

boards require. 

Ms. HINKLE. Yes? 

Dr. HUDSON. Elaine raises a really important point and it’s interesting, because I suspect that your laboratory is governed by the 

privacy provisions of HIPPA because you probably bill electronically. So while people can criticize the privacy regs under HIPAA, 

they do govern the more traditional genetic tests. 

I don’t believe that HIPPA covers many of the direct-to-consumer 

companies. So there’s the issue then of what assurances of privacy 

protections do you have, and how do they compare to HIPAA, and 

should we expand HIPPA to follow the information and not the entity? So that’s one issue. 

The second issue is that there are a set of accepted norms of the 

ethics governing research in terms of whether a research participant is informed and understands what they’re getting into, whether or not somebody other than the researcher is looking out for the 

research participants’ interests and making sure that the benefits 

outweigh the harms, etcetera, etcetera. 

But if I read the regulations right, these ethics regulation also 

don’t apply to pic genetic testing companies, although you could 

voluntarily comply with those research regulations. 

So we have this interesting situation where we have sets of entities that are subject to ethics standards, and sets of entities that 

aren’t subjected to those standards. In some cases people are opting 

to meet the higher standard, but some are opting not to. 

Ms. HINKLE. From our regulator’s perspective? 

Mr. HAMILTON. This isn’t really a CMS question—— 

Ms. HINKLE. Right. 

24 

Mr. HAMILTON. But we do a great deal of health care purchasing 

and we do want managed care entities, health care providers, to 

compete in the domains of good quality, efficiency of services, effectiveness of services, not to be competing to get unfair advantage to 

do favorable selection, to use genetic information in a way to gain 

market share by cherrypicking. 

So we think that the protections in this area are quite important. 

That means the protections that are put in place amongst the providers of genetic information, because there will always be some 

health care provider out there trying to get—no matter how strong 

the laws are, there will always be some provider trying to access 

some indication about potential consumers so that they can get 

market share. We want them to get market share if they’re providing good services, but not through the use of genetic information. 

Ms. HINKLE. Well, since you’re at the mike and talking about finances, maybe you can talk about the converse of that, reimbursement for genetic testing. What is CMS’s policy right now, particularly under Medicare, for reimbursement for genetic tests? 

Mr. HAMILTON. I’ll have to beg off on that question since I represent the quality assurance side of Medicare, but not the payment 

side. 

Ms. HINKLE. Judy. 

Ms. YOST. I’m sorry, I don’t know. 

Ms. HINKLE. That’s all right. 

Anybody at the table have some background or expertise on that? 

[No response.] 

Everybody just looks at you, Kathy, as the default. 

Dr. HUDSON. That’s one area we haven’t spent a lot of time on 

yet, although let me make one quick comment. There is an important piece that’s been not really talked about here, which is the 

translation into clinical practice and the need to collect enough evidence. There’s a weird imbalance right now where we have tests 

for 1500 diseases, and then a zillion variations that we can look at, 

but a tiny, tiny number of health professional guidelines. 

What the health care professionals say is that they need evidence, and they need somebody to look at that evidence, and weigh 

that evidence and then give it to them so they can develop guidelines. There is a CDC-funded effort under way to do that, where 

they are carefully looking at genetic tests and then doing the evidence reviews, drawing conclusions, and making recommendations. 

Hopefully, health care provider organizations will be able to pick 

up that evidence base, translate it into guidelines, and get it into 

the hands of health care professionals, so they’ll know what tests 

are good tests and where the evidence base is strong and what 

tests are a shrug. At the end of the day it’s going to be the useful 

tests that really benefit. 

Dr. FEERO. I would extend that point, that the EGAPP process 

is a very valuable process for reviewing evidence, but you actually 

have to have evidence to review. Developing the sort of 

translational evidence that’s needed is going to be a challenging 

and costly endeavor, and will be a moving target. That’s what I 

was trying to refer to previously. This concept of developing a pipeVerDate Aug 31 2005 15:00 Mar 23, 2009 Jkt 000000 PO 00000 Frm 00028 Fmt 6633 Sfmt 6633 H:\DOCS\47953.TXT SAG PsN: JOYCE
25 

line in this area to figure out how to develop that evidence in a cost 

effective way is a major challenge, I think, moving forward. 

Ms. AVEY. That’s something that I can’t expect that the government would take on solely. That’s where I think the public-private 

partnerships are really going to make a huge difference, and that’s 

exactly the role we want to be playing with our partners, with the 

technology providers, with the labs that have CLIA oversight. 

So I think all the pieces are in place and then it’s just a matter 

of us working together and not halting something that could be 

very positive for health care. 

Then I just wanted to mention, going back to the privacy issue, 

we are a for-profit company and we would not have a business 

model if we did not protect the privacy of our customers. We know 

that. That’s a fundamental thing and an element of this company. 

So protecting that privacy is, of penultimate importance to us. 

So we do that, but we also give our customers the option of sharing their data. If they want to download it and give it to a researcher at their favorite institution to do studies, they can do that. 

But we would say that we are even beyond HIPPA compliance 

without the unintended consequences of HIPPA which we hear 

about all the time from physicians, who say they can’t look at the 

same medical record in their office that they can see at the hospital, and it really hinders their ability to take care of their own 

patients. 

So we don’t think HIPPA is perfect, but, that said, we totally believe in the privacy of this information. When you see what UCSF 

did when they sold the record of 6,000 patients recently—it was in 

the papers everywhere. HIPPA does not prevent those types of 

things from happening. 

Ms. HINKLE. What resources currently are available to consumer 

or perhaps even medical providers who have patients coming in either wanting genetic testing or wanting help in interpreting genetic 

tests? Where are the resources? Do the agencies have information 

on their web sites that’s digestible? A third party, or is there a hole 

there right now as far as public education? 

Dr. FEERO. A number of years ago NHGRI, in collaboration with 

a number of other entities, created or helped to create an organization called the National Coalition for Health Professions Education 

in Genetics, to try to begin to create an infrastructure for delivering information on genetics to the health professional community. 

That organization has been working diligently with a number of 

groups, most recently physician’s assistants, prior to that in the 

nursing organizations, to try to deliver the information. 

There are a wide variety of efforts on various web sites that are 

funded by the government at least. A good example is Gene Tests 

and Gene Clinics that provide information for the less common disorders. 

Ms. HINKLE. I have to say, I don’t find that a particularly helpful 

web site from a consumer’s perspective. 

Dr. FEERO. It’s not designed for consumers. It’s designed for the 

health professional. 

At this point in time, the resources that are available in the public space to help with the interpretation of these association studies 

are much more scarce. In fact, the NIH is working on this right 

26 

now. There’s a trans-NIH communications group on the genetics of 

common chronic disease, that is working to formulate a response 

to that sort of vacuum of publicly available information on this 

topic. 

But it’s clearly something that I think a number of different 

agencies, the CDC included, have their eye on. 

Ms. AVEY. Just to mention that we’re in discussions with them 

as well, because if we’re already aggregating this information and 

creating our own tools, we’re happy to share those and work with 

NCHPG directly if that makes sense, if the information we’re providing is something that they’re also interested in. 

Ms. HINKLE. Kathy, you offered your perspective much earlier in 

our conversation that there has been a real lack of progress with 

respect to genetic testing oversight. Of course, not everyone at the 

table shares that opinion. So I guess my question to you is, what 

particular progress would you like to have seen the agencies be undertaking at this point? What would you really like to say this 

must be your top priority over the next 1, 2 years in order to ensure adequate consumer protections? 

Dr. HUDSON. I appreciate you pulling this roundtable together 

because I learned a lot from my fellow panelists. I was stunned to 

hear Steve say that he welcomes new authority, and that’ll be interesting to follow up on, exactly what authority is he welcoming. 

Ms. HINKLE. I was going to ask in a moment what authorities 

he would like from Congress and we’re just going to get that written up. 

Dr. HUDSON. I’m excited about the efforts that CMS is making 

in terms of moving forward with proficiency testing, despite their 

lengthy rejection of our petition requesting proficiency testing last 

year. So I think we need to move quickly on proficiency testing. I 

don’t think it’s that difficult. I don’t think it should take that long. 

My colleague Gail Javitt put together a notice of proposed rulemaking to implement the Secretary’s committee’s recommendation 

and it took her about 4 hours in her office alone. Of course, she’s 

extraordinary, but it’s not that hard. 

The most important thing second to proficiency testing is creating a genetic testing registry and creating that transparency. Nobody’s against it. Yes, the details are hard. It absolutely must be 

mandatory. It absolutely must be at an agency that has proven 

informatics and genetics sophistication. But I think that that could 

move forward quickly and help a lot. 

Ms. HINKLE. Where should that be housed? 

Dr. HUDSON. I personally believe it should be either housed at 

FDA or NIH, because both have a track record of success in making information instantly publicly available and easily searchable. 

CMS, sadly—and I understand their resource constraints—2 years 

ago Tom testified that you could find out the CLIA certification status of labs on their web site. I checked yesterday and still can’t. 

So I think—— 

Ms. YOST. It’s coming. 

Dr. HUDSON. It’s coming. It’s coming. 

Ms. YOST. It’s almost there. I saw it yesterday. It’s almost there. 

Ms. HINKLE. So it’s not online? 

Ms. YOST. It’s almost there. 

27 

Mr. HAMILTON. It’s almost there. The wheels of government 

grind finely but slowly. 

Dr. HUDSON. At different rates in different agencies. 

Ms. HINKLE. So we’re not quite there yet. 

Mr. HAMILTON. In contrast to Gail’s 4 hour piece, we worked for 

a year to get permission to get exceptions to our hiring freeze and 

a year to fill the position. So government—the Federal Government 

is purposely designed with the famous checks and balances. But 

notwithstanding, we’re making slow progress. I think we had the 

web site ready to go and then—— 

Ms. YOST. For like a day. 

Mr. HAMILTON. For that cameo time. Then the directives came 

down to make it all 50 compliant, which it should be, of course. But 

if you’ve ever had the pleasure of trying to make a large enterprise 

50 compliant so that individuals who are blind can read it——I 

don’t use charts. That’s all I can say. At any rate—— 

Ms. HINKLE. So could we anticipate that this year some time? 

Ms. YOST. I’m saying weeks. 

Mr. HAMILTON. Kathy is right in so many ways. We support the 

registry idea and it ought to be within an agency—— 

Ms. HINKLE. So long as somebody else houses it. 

Mr. HAMILTON. If we were good at it, we’d jump at the chance, 

frankly. 

Ms. HINKLE. Well, Steve, Greg, here’s your opportunity to take 

up the mantle and go to bat at your respective agencies. So who 

wants it? 

Dr. FEERO. That’s above my pay grade. [Laughter.] 

Ms. HINKLE. Show some initiative. Get that promotion you’ve 

been bucking for. 

Dr. FEERO. I don’t think that’s what I’d get. 

Ms. HINKLE. Is FDA well equipped to handle a registry like that? 

Dr. GUTMAN. Well, as I said before, we’re from the government 

and we’re here to help. So we’re always anxious to do what’s appropriate. I think when I was talking about authority it might be really not so much authority, because I believe we have the authority. 

I think Congress could perhaps express some interest in direction. 

If you look at the SACGHS report, it’s a very complex report. It offers more than one path to Rome. So a path to Rome could be more 

reliant on CMS, it could be more reliant on FDA, it could be more 

reliant on a public-private partnership, or it could be reliant on 

other out-of-the-box thinking, all of which might fall within existing authority. 

It would be a matter of how you emphasize that authority. So I 

think that there might be a role for, after a factfinding by Senator 

Smith or by anyone in the Congress, to express advice and interest. 

There are no easy answers here. These are very complex problems. 

I think what Thomas said at the beginning is that really, in order 

to do it right it really does require the involvement of multiple 

stakeholders, not just FDA, not just CMS. 

I think the idea of a public-private partnership has to be carefully thought out and carefully orchestrated, but it is probably necessary. 

Ms. HINKLE. Judy, I’ll put you on the spot for a second, since I 

know you frequently speak in public about the CLIA genetic testing 

28 

specialty and PT. So I think everyone in the room is very familiar 

with the agency’s history in abandoning the genetic testing specialty. So can you tell us a bit more about your plans for PT, because even just as recently as this December when my boss met 

with Administrator Weems and questioned him as far as the agency’s plans for enhancing oversight over genetic testing, I would say 

we got what was a less than specific response about the agency’s 

enthusiasm toward mandating proficiency testing for genetic tests. 

Maybe you could just—— 

Ms. YOST. Well, actually there’s a very simple answer. You don’t 

need a specialty in order to change the proficiency testing requirements. So we feel it gives us actually an easier way to proceed to 

use the existing infrastructure to develop proficiency testing, because currently it depends on how you define a genetic test and, 

as you heard, no one has the same definition, no two people. 

But even so, that said, the genetic tests that could be potentially 

genetic tests if you define them that way are interspersed among 

all the current specialties now. So we just envision that that would 

just continue, with the change that we would make. So it makes 

that part of the process a lot more simple. 

As we progressed through the discussions with the SACGHS 

oversight review and thought about what the options were and 

what were the things that were most important and what were the 

things that we could do and could not do, and what were things 

better done through other vehicles, we felt that PT was something 

that not only for genetic testing but overall the regulations needed 

to be updated, because they hadn’t been done since 1992. 

So that has become our priority, that’s next if we can ever get 

the cytology PT out. We are well under way with a plan and players in order to accomplish that. 

With regard to some of the other concerns about CLIA, I know 

there’s discussion about personnel and quality control and some 

other areas. We feel that there are probably ways that we can accomplish that through use of professional guidance and incorporating it into our guidance documents and still get there from 

here. 

We’ve found in the past, because we have experience in that, in 

doing that, that once you start to put a professional standard, as 

long as it’s within the scope of our authority, into our guidance, 

people tend to follow it because it’s an easy route to compliance, 

and then it standardizes the standard of practice as well. It becomes the standard of practice. 

We saw it in microbiology with cut points for susceptibilities and 

using a consensus standard, and it has worked extremely well. 

Ms. HINKLE. So you’re confident that if you issue those as sort 

of sub-regulatory guidance that you’re still going to have adequate 

enforcement authority or there’s just going to be adequate enough 

compliance, that you’re not going to have to worry about bringing 

down the stick against people? 

Ms. YOST. You would always have outliers. There will always be 

an aberration. There will either be circumstances or individuals 

who either willfully or unknowingly will not be in compliance. 

That’s a fact of our lives on a daily basis. So you can never say 

never. But we believe that for the most part it does become——beVerDate Aug 31 2005 15:00 Mar 23, 2009 Jkt 000000 PO 00000 Frm 00032 Fmt 6633 Sfmt 6633 H:\DOCS\47953.TXT SAG PsN: JOYCE
29 

cause in many of these cases too we’re talking about competition. 

So the idea is that if you’re in compliance you can use that as 

added value to your services to be able to work in the marketplace 

as well. 

Ms. HINKLE. Is there anything you can share as far as specifics 

about this guidance or when we might look for that to be issued? 

Ms. YOST. I think again this is an area where we have to—there 

is a lot of material currently available that a number of the professional organizations have already developed. It’s a matter of vetting that information, working with the experts in the field to provide us perhaps some additional guidance with their expertise. 

Ms. HINKLE. Wouldn’t most of that work have already been done, 

though, with the 6 years that you spent laboring on the CLIA genetic testing specialty? I mean, how much more up to speed does 

CMS really need to get at this point? 

Ms. YOST. Well, I’m not talking about up to speed. I think we 

have to decide what we really want and what are the most important things. I don’t think we can do it all yet tomorrow. But clearly 

we’ve agreed that proficiency testing is important. We have the 

work that’s been done with CDC on the best laboratory practices 

document that will be published next year. 

In addition, I believe we should work with partners. Rather than 

we being the selectors as the Federal Government, I think we need 

to have private entities provide additional advice to us to—— 

Ms. HINKLE. Well, Kathy and—they’ve been very free with their 

advice. 

Ms. YOST. The invitation’s been open for 2 years. We’ve asked— 

we don’t claim to be the be-all, end-all. So we want to have folks 

buy into whatever it is that we select to use, rather than send— 

picking something and then have people not happy. So it’s better, 

again, to work on the front end rather than the back end. 

Mr. HAMILTON. Well, if we can think about this strategically, 

we’ve got 1500 genetic tests. 

Ms. HINKLE. The number increasing every day. 

Mr. HAMILTON. Expanding every day. How many proficiency 

tests do we have? 50, 60, 70? The number of tests is growing faster 

than the proficiency tests. So we will always have this enormous 

gap. 

Into that gap come two things. One is alternative quality control, 

alternative assessment, that needs to be pretty robust and needs 

to be adequately enforced. That’s our piece under CLIA, to make 

sure that it is. There are current requirements that apply when a 

proficient test is not being used, that the laboratory twice a year 

verify. So that needs to continue to be applied and made as robust 

as we possibly can. 

With regard to the proficiency tests themselves, we need an adequate strategy. These things do not just magically appear. We had 

a 17-year history trying to get national proficiency tests for 

cytotechnology. That’s a very long saga, but in 2005, 17 years after 

CLIA was passed, we finally got national proficiency testing there. 

So what we really need for proficiency testing is a real strategy. 

Instead of thinking about this as an all or nothing, either proficiency testing exists or it doesn’t, if we think about it perhaps as 

a ramp, where you start in sequence with the education, then with 

30 

possibly quasi-volunteer, quasi-voluntary participation, and then 

ultimately the legally mandated national participation. 

That’s why in that sequence we want to work with particularly 

the accrediting organizations and the professional societies, both of 

which do a great deal of work on the educational side of things. But 

on the accrediting organizations, they have the ability to require 

their members to do proficiency testing where they make the proficiency tests available. So on the one hand, that’s short of a universal government mandate, and it’s voluntary for an organization 

to decide whether or not to be accredited. But having made that 

voluntary decision, the accrediting organizations can make the participation in PT mandatory. 

So that’s a step up from just education. From that ramping up 

it’s a shorter step to us either doing sub-regulatory guidance, which 

is just short of a full mandate. We can make it a full mandate by 

changing the regulation and adding these various analytes to the 

regulation. So Ithink that’s the strategy. That’s why Judy’s got 

planned a November meeting with the accrediting organizations, to 

really focus on this, and we want that CLIA work group. 

Ms. HINKLE. Why wait until then? 

Mr. HAMILTON. Excuse me? 

Ms. HINKLE. Why wait until then? 

Kathy, I’m sure you have some thoughts on this. My question to 

you is, Steve indicated earlier that some direction from Congress 

might be welcome or needed. Do you guys need a little help from 

Congress, some direction here steering the ship in this respect? 

You know, people are just chomping at the bit. They’re just waiting 

for CMS to do something. Clearly you heard my boss express his 

frustrations at the very glacial pace at which CMS seems to be 

moving here. 

So there’s certainly some frustration, I think, about the stakeholder community as well as on the Hill, just kind of waiting for 

CMS to do something. 

Mr. HAMILTON. Again, look at the nature of the proficiency tests. 

We do not have a group of sallow scientists hidden in the basement 

concocting proficiency tests. These come from the professional community. So we want to work with the professional community to 

develop those. 

Now, which comes first, a mandate for proficiency testing or the 

proficiency test itself? 

Ms. HINKLE. Well, you know if CMS required proficiency testing 

there’d be plenty of people willing to provide proficiency testing to 

capitalize on all the people now who have to undergo that testing. 

It’s the whole ‘‘build it and they will come’’ philosophy that we 

talked about. 

Ms. YOST. That is very marketplace-driven, too. The proficiency 

testing providers currently will not develop the PT material if in 

fact they don’t have a market to sell it in. So that you can see that 

by the difference of—— 

Ms. HINKLE. But if they know CMS is going to require it, 

then—— 

Mr. HAMILTON. Well, you asked what Congress could do. If Congress provided up-front funding and said don’t worry about any 

31 

marketplace uncertainty, here’s reimbursement, the marketplace is 

guaranteed. 

Ms. HINKLE. I’ve got 20 dollars in my wallet over here. We’ll 

start with that. 

Mr. HAMILTON. I’ll match you and—— 

Ms. HINKLE. Yes, right, matching funds. 

Yes, Elaine? 

Dr. LYON. Can I comment with that? As Mr. Hamilton has said, 

what CLIA requires is to demonstrate the accuracy of your tests. 

When there are proficiency programs available that we can be a 

part of, we are a part of it. Some of the tests we do are not in those 

proficiency programs. However, that doesn’t eliminate the lab’s responsibility for doing proficiency testing. 

We will then get with other laboratories doing the same test. We 

will work together. We will exchange samples. We have these set 

up to be able to do. 

If that doesn’t work, we still have the responsibility to make sure 

they are accurate, and we do it by what we call an internal proficiency. So one cannot say that the proficiency testing isn’t being 

done; it is being done. For some tests, it may not be under a formal 

program right now. 

Would we be in favor of expanding that program? Yes, because 

it makes it easier for us. We don’t have to find another laboratory 

to work with. But the proficiency testing is being done. The requirements from CLIA to show that your test is analytically accurate is being met for every test that we do in our laboratory. 

Ms. YOST. That’s a requirement, that’s a regulatory requirement 

currently in place that we very closely monitor because, interestingly enough, it’s one of the most frequent findings we have on surveys. So that obviously means we’re actually looking at it. 

The thing to remember here, though, as folks are losing perspective, is everything’s hanging on proficiency testing. CLIA is a package deal. CLIA has quality control. That means every day you do 

a test you have to check to see that it has worked before you report 

any results, and you have to have qualified people, you have to 

have trained people. You have to check their competency on an annual basis. You have to have a quality monitoring program in place 

that you monitor every test and every system in place in your laboratory to ensure that your test results are accurate, that they’re 

reliable, and they get to the person who’s going to use them reliably, and confidentially, by the way. 

So those other requirements, as well as having recordkeeping requirements for every step of the testing process, so that if somebody needed to go back and check to see what happened from the 

time the specimen was collected through the analysis until the result is reported, you could track that test. All of that is part of 

CLIA and, together with proficiency testing or alternative assessment, as this is called, that is what makes an accurate result. 

You have to really look at the whole picture and not just focus 

on one requirement. Yes, it’s a lovely measure of outcome, it’s a 

lovely measure of test accuracy. But frankly, you don’t get PT results until 3 months after you reported that patient’s result. What 

good does that do you? You’ve got to know on a daily basis that 

your test is working. 

32 

Ms. HINKLE. I appreciate you making that point. I think that’s 

a point well made. I think we could probably spend the entire 2 

hours together talking about proficiency testing, but it would be incredibly remiss of me not to talk about a couple of the SACGHS 

task force report recommendations. I see that Tom has brought his 

trusty copy there. 

Instead of me sort of picking through various recommendations, 

I think people would probably be much more interested to sort of 

hear what your perspectives were on the report recommendations. 

Was there anything that surprised you by being included or not included? Is there anything from the agencies’ perspectives you think 

particularly feasible—I know you’ve already talked about PT—particularly feasible to implement or just completely, can’t do it, that’s 

crazy talk? 

Anyone jump in. I know you touched on a couple points as well, 

so anyone just jump in. [No response.] 

All right, we’ll go around the table. Kate, you’ve been very quiet 

today. How about you? Give you a chance to get on record and 

some camera time. 

Ms. COOK. I’m actually here to carry Steve’s bag. 

Dr. GUTMAN. Well, I will reiterate what I said before. Actually, 

I’ll be more personal than perhaps I should, because it was an incredible report, so I’m just in awe that they had 30 people who 

worked, beat their time line, argued over every word and paragraph and sentence, and came out with something that was reasonably intelligible. So I’m extraordinarily impressed. 

Ms. HINKLE. That’s credit where credit is due. 

Kathy, you were on that. 

Dr. HUDSON. Yes. Steve was there as well. 

Dr. GUTMAN. Yes. I wasn’t trying to praise myself. 

I was actually quite peripheral. 

There were a couple of things that amazed me. It amazed me 

that after the report was written when you looked at the press it 

was as though there was only one paragraph in the report and that 

was the paragraph describing FDA. So I found that disheartening, 

that we are so fearsome. You could have had that written in one 

afternoon. You didn’t need the whole report. So you look at the 

press and it just completely missed the point. 

The report was rich in that it actually wasn’t just the FDA issue. 

It was the education, the reimbursement. The only thing that 

was—everything was reiterating from—you got a snapshot, but I 

think if you want to look at the big problem, the whole field hasn’t 

quite addressed maybe all of these complex issues, education, reimbursement, analytical validity, clinical validity. 

The new one in town—I don’t remember, but I certainly don’t remember it in the SACGHS report; it wasn’t in the tax report for 

genetic testing—was this notion it is 2008, so we’re a little bit further along than we were even 8 years ago. People are worried 

about evidence base of medicine and they are worried about value 

base of tests. How could they not when 16 percent of health care 

dollars are being spent on—16 percent of GNP’s spent on health 

care and it looks like in my lifetime it will be 20 percent and my 

kids will be paying 25 or 35 percent. We’re a very rich country. I 

don’t think we’re that rich. 

33 

So I think the epiphany in the report was that it’s not just FDA, 

it’s not just CLIA. There’s a problem here. AARP’s trying to work 

on the problem. Blue Cross-Blue Shield technology evaluation center is trying to work on the problem. But you’ve got to figure out 

a problem. Do we actually have money to spend on these tests? 

Which tests should we be spending the money on? How should we 

be deploying them and how should we be making sure that they 

are improving the quality of performance? 

So it’s a rich report. I hope everyone in the community doesn’t 

shelve it. I hope that—they can agree with it, they can disagree 

with it, but I hope they respond to it and it stimulates. It’s worth 

not being ignored and not being shelved. 

Mr. HAMILTON. I was not in the group, so I can be completely fulsome. It is an awesome, awesome report. Congratulations, Kathy, 

Steve, and Chairman Toich, and before him Reed Tucker, and everyone who participated. It created a forum to bring very disparate 

points of view together to fashion a very constructive set of recommendations that do make it very clear that this is going to take 

all of us working clearly together and for quite some time to make 

progress. 

But it’s an optimistic report because I think it charts a pathway. 

We can all have our particular viewpoints about what the solution 

or a technique might be, but I think the report keeps the vision before us of, regardless of the approach, here’s the destination. So 

that’s why I am carrying it around. I think it ought to be required 

reading. 

Ms. HINKLE. They should have that in the pocket size, like the 

Constitution that the members carry. 

Judy, what was your take-away from the report? 

Ms. YOST. It was actually—— 

Ms. HINKLE. By the way, I’m assuming that you’ve all read it 

from cover to cover. 

Ms. YOST. It was actually a very enlightening experience to work 

with such wonderful people. Truly I learned, I learned as much as 

I complained. So I did find it highly valuable. Clearly we are doing 

our very best to look at those things that we can accomplish within 

the scope of our authority and to work through them. We’ve begun 

in a number of different areas. They’re already under way. 

We’ll do our best. But again, it is pretty awesome because it 

shows you a full picture of what’s happening. It’s not just isolated 

to one aspect of genetic testing because it’s a continuum, it truly 

is. So it was an honor to be able to work on it. 

Again, I always learn more than I give. So it’s always worthwhile 

time. 

Ms. HINKLE. Kathy. 

Dr. HUDSON. I already shared my top priorities. The one area 

that didn’t get addressed—and a lot got addressed by this committee but the one area that I think may have gotten less attention 

than it should have was how we need to move nimbly to get information into drug labels about diagnostics. This is already saving 

lives. There’s a genetic test that can tell if a person will suffer severe reaction if they take a particular antiviral for HIV and it’s not 

yet, as I understand it, on the drug label. So how can you move 

34 

really fast? How can we move really fast so that we can get the 

benefits as fast as possible? 

Dr. GUTMAN. Yes, I do want to respond to that, because the agency is cognizant of that and we think that a policy statement we 

need to clarify is that when you do have a—when you do have a 

diagnostic and a drug linked so tightly that the selection of the 

drug or the avoidance of selection of the drug is related to use of 

the diagnostic, we at least in my neck of the woods would say that 

the drug becomes a slave to the diagnostic, so that the cross-labeling becomes critical, that cross-labeling has to be based on data. In 

fact, Dr. Woodcock has been fairly explicit in suggesting that those 

tests do require pre-market review if they’re going to make drug 

decisions. 

We have a very colorful, inconsistent past history. I suspect the 

transitional period will be rocky, but I do think we are going to 

move in the direction of having higher expectation when you have 

a really tight link. When you have a weaker link, then I think— 

I still think we ought to be looking at that policy, but I don’t think 

it’s as compelling. 

Ms. HINKLE. Elaine. 

Dr. LYON. What I saw in this report was, first, they still couldn’t 

define a genetic test. It makes it very hard for us to move forward 

if genetic testing is defined so broadly that it goes into every aspect 

of medicine. 

Then the question that they had brought up is whether there is 

an exceptionalism about genetic testing that is different than the 

rest of medicine. I don’t think that there is a complete agreement 

with that, either. I think overall the tone was that there is not an 

exceptionalism, that genetic testing does fall into the realm of other 

types of clinical laboratory testing. 

Those were the two ideas that need to be clarified for us to really 

move forward. 

Ms. HINKLE. Greg. 

Dr. FEERO. So first, going back to my comment about being above 

my pay grade, what is not above my pay grade to say in NHGRI 

is that we are very supportive of the idea of a registry and think 

that there is great potential value in that. 

Particularly with regard to this report, I think that the introduction of the concept of utility as part of that registry is something 

that is very valuable. Clearly, genomic applications span the health 

care system. They’re coming out at a tremendous pace and, as 

much as any technology, they have great promise for improving the 

health of the general population. But they also have a cost associated with them and I think we have to be cognizant of that as we 

move forward. 

I guess my overall comment, and perhaps this is because I 

haven’t been in government quite long enough to understand this, 

it is a report, and that ultimately a report is only good as its implementation and how people’s toes are held to the fire over time for 

its a product. That would be my comment, that I think it is an excellent report; the proof will be in the pudding. 

Ms. AVEY. For us, we broke it up into chunks and everybody got 

assigned their reading, and then we came together and had a meeting about it, which was great. Our scientists all reported back what 

35 

they got out of the section they read. I think at the end of it we 

all thought this is such a huge opportunity for 23andMe to be involved, to be part of this public/private partnership with all the different agencies, because it was very clear that genetics education 

is really lacking for the medical community and for lay people. If 

that’s a role that we can play, we’re very excited about that. That’s 

really one of the missions of the company, is to just get genetics 

out into the mainstream. 

But it was very clear that, even on testing that isn’t genetic, 

there’s still a huge disconnect between what comes out of a testing 

lab and what a doctor is able to report back to their patient. So 

it’s not just us—I don’t think we’ve created this problem by coming 

out and creating this new industry. I think it existed before we 

came along. But certainly as far as genetics goes, that’s where 

we’re going to be focusing and we’re very excited about the educational opportunities. 

Ms. HINKLE. Since I promised everyone in the audience an opportunity for Q and A, is there anyone in the audience who has any 

questions for any of the panelists? 

Ms. FOMOUS. My name is Cathy Fomous. I thank you for all the 

wonderful things that you said about the report. I really appreciate 

it and I will bring it back to the staff. 

My question is for Linda, because I know the least about what 

your company does. You have mentioned a few times during the 

conversation today that you are very enthusiastic about doing research with the database that you have and the voluntary nature 

of the additional information. My question is, do you think that 

you’ll voluntarily follow guidelines for human subjects research 

protection, such as an informed consent process? 

Ms. AVEY. Absolutely. This is something that’s coming up a lot 

in our discussions with researchers and with other organizations 

about the stifling stranglehold IRBs have over the research process. 

We have a consent form and we’ve met with a commercial IRB to 

have them kind of bless it. Because we break the paradigm, we 

don’t know what questions we’re going to ask yet. Frankly, coming 

from Perlegen and Affymetrics and Applied Biosystems and working with researchers over the last 25 years, I can tell you that the 

current research paradigm requires that you know what questions 

you’re going to ask in advance most of the time, other than things 

like the Framingham study, where it’s prospective and you learn 

information over time that you might not have even thought to ask 

in a study. 

So we’re very open-ended in that we don’t know what questions 

we’re going to ask and we don’t know even what information we’re 

going to find. So the IRB scratched their head like, ‘‘This doesn’t 

fit our mold.’’ You have to be able to say what is the end point of 

your protocol and what is your protocol. 

So for us it’s frustrating. They’ve been very honest to say, this 

just doesn’t work the way we review protocols. What was interesting to me, though, is at the end of the meeting one of the people 

on the executive team of this IRB came up to us and said, ‘‘I have 

a daughter with a genetic disease and she’s going to love what 

you’re doing.’’ 

36 

So we really need to work together with the IRBs, I think, as 

well to see how do we do this, how can we make these non-protocols, if you will, fit into an IRB paradigm. 

Ms. HINKLE. Any other questions from the audience? 

Mr. DAYNARD. I may be biased, but since I have all the experts 

here and we’re talking about this, Greg, I think you mentioned that 

the associations seemed to be robust over the last few years depending upon the polymorphism you’re looking at. Linda, you said 

that you may not disagree about the associations, but you still can’t 

tell people what to eat. I think what we may be seeing in terms 

of claims with some of these companies is the claim that having a 

susceptibility and gaining information about your genotype and 

maybe even getting recommendations about lifestyle and diet 

changes is going to impact your health outcome. 

What kind of evidence supporting the claim would you require if 

it’s not a clinical trial? 

Ms. AVEY. That’s where we want to work with the agencies to 

make those definitions. What does become information that has 

clinical utility? I think as a society we have to come to an agreement of how we get to those end points. I don’t think we have all 

the answers. I don’t think FDA has all the answers or CMS. But 

I think together we can come to some kind of conclusions, because 

doctors are going to need to know this. They’re going to have patients coming to them time and again with the reports and say, 

here, doc, what do I do? I don’t think we know what to say yet. 

That’s why we sound like a broken record. We keep going back 

to the fact that we need more data, and that’s really what the mission of 23andMe is to get many, many, many people, hundreds of 

thousands of people hopefully, involved answering the same questions, that we can then make those clinical connections and connect 

the dots. 

But we don’t know the numbers we’ll need for that. It depends 

on the condition, it depends on the genetic association. It’s really 

complicated. 

Mr. DAYNARD. Exactly. 

Ms. AVEY. But that doesn’t mean we shouldn’t do it. 

Mr. DAYNARD. What are respondents going to say to me when I 

present them with a draft consent agreement to comply with the 

Federal Trade Commission Act is, boy, this is complex, and we’re 

not quite there yet. We don’t know. Maybe these association studies are good enough. Then someone will say, well, even a strong association is not good enough because you don’t know that the recommendations are genotype-specific. But here’s the FTC that’s 

going to tell someone, you need this kind of evidence and you don’t 

have it; your association studies aren’t good enough if the claim is 

that this is going to impact your health outcome, not just that 

there’s an association. That may be right, and that’s a distinction 

that we’re continually trying to hone. 

Yes, we’d love to talk to you. 

Ms. HINKLE. Anyone else? 

Dr. FEERO. I would just add the comment that certainly that 

whole question is an active area that the NIH is looking at carefully, in conjunction with other groups. It is a huge challenge. It’s 

going to be dependent on the particular disease, the particular 

37 

markers, the particular invention you’re proposing. But that really 

is I think the $64,000 question for any registry that is going to use 

utility as one of the bars that you set. A, what is the bar; and B, 

who’s going to set it, is really going to be a challenge. 

Mr. DAYNARD. Well, I hope the FTC doesn’t become premature 

in this area, because the FTC very definitely, although it enforces 

the law against unfair and deceptive practices, it doesn’t want to 

chill an emerging science, and that’s our standard. It’s a rigorous 

standard, but it’s flexible. So either I see it the way it is or I make 

it up. Just kidding. 

Ms. HINKLE. Any additional questions from the audience? [No response.] 

I have received one question via email from John Rockoff with 

the Baltimore Sun and he was just curious to know about the volume of genetic testing. Does anyone here at the table know how 

many patients each year undergo genetic testing? [No response.] 

No one? 

Or how might we get that answer? Is that something that’s even 

really tracked or identifiable? 

Dr. FEERO. The fundamental problem is we haven’t defined exactly what we mean by ‘‘genetic tests.’’ So it’s very hard to count 

when you don’t know what you’re trying to count. 

Dr. LYON. One point that I could say is that most of the genetic 

testing that we do right now, is for the relatively common genetic 

diseases, the Factor V Leiden, the cystic fibrosis. I had the numbers pulled from our laboratory and about 70 percent of them in 

volume have FDA-cleared reagents to do them. 

Ms. HINKLE. Well, I promised you all that it would be about 2 

hours and in lieu of opening statements we would afford the panelists an opportunity to make closing remarks if you wish. So would 

anyone care to make any type of closing statement before we adjourn? 

Dr. LYON. I just wanted to emphasize that the knowledge that 

we’ve gained from the Human Genome Project has resulted in 

meaningful discoveries in our understanding of diseases and its 

care. I want to emphasize that genetic testing does have value. It 

has tremendous value to diagnose difficult and rare diseases. It has 

value in detecting people who are highly susceptible to disease before symptoms begin and hopefully that we can do something to intervene. With pharmacogenetics we are able to target the appropriate medication. 

Genetic tests are being regulated, as are all clinical laboratory 

tests. We appreciate CLIA’s stand to allow us to do laboratory-developed tests. I believe they are critical for many of these rare genetic diseases for which manufacturers will not making reagents 

and the laboratories are responsible to make sure that their tests 

are valid. We do participate in the proficiency testing and we follow 

the CLIA and professional standards. 

There are some guiding principles that I think that we should include. The tests do need to be developed based on medical knowledge and should be ordered by a knowledgeable health professional 

that can help in their use and interpretation. All laboratories performing these tests should be CLIA-certified for high complexity 

38 

testing; and that any exaggerated or unsubstantiated claims then 

could be investigated by the FTC. 

The innovation in molecular testing is extremely sensitive to regulation and reimbursement. Too much of the former and too little 

of the latter could prevent or delay the hoped-for medical advances. 

I believe that we can target the problems of marginally useful testing while allowing testing based on good science to accomplish its 

promise in diagnosing, treating, and preventing disease. 

Thank you. 

Ms. HINKLE. Anyone else? 

Ms. AVEY. I don’t have a formal response, but I just want to 

thank everyone for being invited. It’s been great to be here. It’s 

been really illuminating. We’re very excited about the future. We 

think the United States can play a big role in personalized medicine and can be a leader in this. I think we’ve fallen short in the 

last few years in things like stem cell research. I really think it’s 

time for us to step back up to the plate again. 

The great thing about the U.S. is, especially in California, we 

have a very diverse population. We’re already talking to places like 

the South Asian Heart Center. At a hospital in Sunnyvale they’re 

looking into why do Indian men who have vegetarian diets and 

take care of themselves, die of heart attacks? If we can do a study 

in the U.S., but that information can translate to India, we can 

start a global effort that could help other countries that may not 

have the same resources as the U.S. 

So we’re very interested in signing up a very diverse population 

of people and having them be enrolled in studies, because when 

you look at these gene journals that we have, there’s a drop-down 

menu that you have to select which population does it apply to, and 

a lot of times it’s just Caucasian. Research is done in a very Caucasian-centric way and we want to change that. We want to enroll 

people of all backgrounds. 

The other issue we have is that people are of mixed race and 

won’t know how research results apply to them—if they’re like 

Barack Obama and he’s looking at his results, does he pick Caucasian or African? He doesn’t know because we haven’t done studies 

in multi-ethnic people. 

So we’re very excited about the opportunity and we just hope by 

working with the regulatory agencies that things don’t get stifled, 

but that we do it in a very responsible way. 

Thanks. 

Ms. HINKLE. Yes? 

Ms. YOST. I just wanted to quickly say that the ‘‘I’’ in ‘‘CLIA’’ 

stands for ‘‘Improvement,’’ and so we realize that that goes for us 

too. We know that we can do better and we have intentions; and 

I think mostly just to extend again the offer to please work with 

us to help us get the things that you need to improve and enhance 

the oversight over genetic testing. 

Dr. GUTMAN. I’ll just reiterate the message that I conveyed at the 

very beginning. This is an area that we all have a role to play. We 

all have a responsibility, and sometimes when everyone has a responsibility that can sometimes be a recipe for no one. So I particularly appreciate the role of you, Chris, and Senator Smith in bringing us together and the SACGHS for performing the same function; 

39 

and to say the ‘‘I’’ in ‘‘CLIA’’ does not stand for ‘‘you.’’ We look at 

it as being ‘‘I’’ as well. So we want to be part of the solutions here. 

Thanks. 

Ms. HINKLE. FDA? 

Ms. COOK. We heard today about the fact that there isn’t an 

identified definition of genetic test. But I think that people can 

agree that there are some tests that clearly are. Even though the 

borders might not be clearly identified, there are some that are. 

Steve mentioned earlier that FDA has taken a risk-based approach in some of its regulatory efforts with regard to laboratorydeveloped tests. So I think it’s worth observing that here, and even 

though we may not have really the full definition of genetic tests, 

there are identified genetic tests, there are identified risks, and 

bearing those two things in mind, it might really help this effort 

move forward to address the most significant risks. 

Ms. HINKLE. Well, I would extend my thanks personally and certainly those of Senator Smith to everyone here. Senator Smith is 

very engaged in this issue. We had a difficult time getting him out 

of his seat. If you saw us frantically passing notes to him behind, 

it was like, the vote’s coming, you have a meeting, you’re missing 

your meeting, the vote’s coming. He did not want to leave. 

So clearly this topic is very engaging. As you know, it can be very 

difficult to engage the interest of a Senator. So I think that speaks 

to how just compelling this topic is and really how engaging you 

all are as panelists as well. 

I have to say I was a little surprised when I first sort of bounced 

this idea off of some of my colleagues here on the Hill. Everyone 

was quite skeptical about the concept of getting everybody together 

at a table. They were like, you’re never going to get the agencies 

to sit down with all these stakeholders and have a conversation 

and do a roundtable on this topic. I was completely surprised at 

that sentiment. 

Certainly you’re all very agreeable people, very well intentioned, 

very knowledgeable, and it is always such an education. Every time 

I have the true privilege of speaking with any one of you, you are 

all always very generous with your time with respect to staff and 

the members. This is the second time you’ve come before this committee and you’ve given up hours of your time today to share with 

us and the public, and we very much appreciate that. You have 

added immeasurably to the record today. 

For those of you who are interested, an archive of this will be 

webcast on the Aging Committee’s web site and a transcript will 

be available at some point in time, too. 

I look forward to following up with all of you, and thank you so 

much. 

With that, we are adjourned. Thank you. 

[Whereupon, at 4:25 p.m., the roundtable was adjourned.] 

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