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47–006 2009

GENETIC NON-DISCRIMINATION 

HEARING 

BEFORE THE

SUBCOMMITTEE ON HEALTH 

OF THE

COMMITTEE ON WAYS AND MEANS 

U.S. HOUSE OF REPRESENTATIVES 

ONE HUNDRED TENTH CONGRESS 

FIRST SESSION 

MARCH 14, 2007 

Serial No. 110–22 

Printed for the use of the Committee on Ways and Means 

( 

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COMMITTEE ON WAYS AND MEANS 

CHARLES B. RANGEL, New York, Chairman 

FORTNEY PETE STARK, California 

SANDER M. LEVIN, Michigan 

JIM MCDERMOTT, Washington 

JOHN LEWIS, Georgia 

RICHARD E. NEAL, Massachusetts 

MICHAEL R. MCNULTY, New York 

JOHN S. TANNER, Tennessee 

XAVIER BECERRA, California 

LLOYD DOGGETT, Texas 

EARL POMEROY, North Dakota 

STEPHANIE TUBBS JONES, Ohio 

MIKE THOMPSON, California 

JOHN B. LARSON, Connecticut 

RAHM EMANUEL, Illinois 

EARL BLUMENAUER, Oregon 

RON KIND, Wisconsin 

BILL PASCRELL, JR., New Jersey 

SHELLEY BERKLEY, Nevada 

JOSEPH CROWLEY, New York 

CHRIS VAN HOLLEN, Maryland 

KENDRICK MEEK, Florida 

ALLYSON Y. SCHWARTZ, Pennsylvania 

ARTUR DAVIS, Alabama 

JIM MCCRERY, Louisiana 

WALLY HERGER, California 

DAVE CAMP, Michigan 

JIM RAMSTAD, Minnesota 

SAM JOHNSON, Texas 

PHIL ENGLISH, Pennsylvania 

JERRY WELLER, Illinois 

KENNY HULSHOF, Missouri 

RON LEWIS, Kentucky 

KEVIN BRADY, Texas 

THOMAS M. REYNOLDS, New York 

PAUL RYAN, Wisconsin 

ERIC CANTOR, Virginia 

JOHN LINDER, Georgia 

DEVIN NUNES, California 

PAT TIBERI, Ohio 

JON PORTER, Nevada 

JANICE MAYS, Chief Counsel and Staff Director 

BRETT LOPER, Minority Staff Director 

SUBCOMMITTEE ON HEALTH 

FORTNEY PETE STARK, California, Chairman 

LLOYD DOGGETT, Texas 

MIKE THOMPSON, California 

RAHM EMANUEL, Illinois 

XAVIER BECERRA, California 

EARL POMEROY, North Dakota 

STEPHANIE TUBBS JONES, Ohio 

RON KIND, Wisconsin 

DAVE CAMP, Michigan 

SAM JOHNSON, Texas 

JIM RAMSTAD, Minnesota 

PHIL ENGLISH, Pennsylvania 

KENNY HULSHOF, Missouri 

Pursuant to clause 2(e)(4) of Rule XI of the Rules of the House, public hearing records 

of the Committee on Ways and Means are also, published in electronic form. The printed 

hearing record remains the official version. Because electronic submissions are used to 

prepare both printed and electronic versions of the hearing record, the process of converting 

between various electronic formats may introduce unintentional errors or omissions. Such occurrences are inherent in the current publication process and should diminish as the process 

is further refined. 

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C O N T E N T S 

Page 

Advisory of March 7, 2007, announcing the hearing ............................................ 2 

WITNESSES 

Francis S. Collins, M.D., Ph.D., Director, National Human Genome Research 

Institute, National Institutes of Health, Bethesda, Maryland ......................... 5 

Karen Pollitz, Project Director, Georgetown University Health Policy Institute ........................................................................................................................ 28

Sharon Terry, M.A., President and Chief Executive Officer, Genetic Alliance .. 47 

David Escher, Former Employee of Burlington Northern Santa Fe Railroad, 

Reno, Nevada ........................................................................................................ 60 

William Corwin, M.D., Medical Director, Clinical Policy, Harvard Pilgrim 

Health Care, Worcester, Massachusetts, on behalf of America’s Health Insurance Plans ....................................................................................................... 68 

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(1) 

GENETIC NON-DISCRIMINATION 

WEDNESDAY, MARCH 14, 2007 

U.S. HOUSE OF REPRESENTATIVES, 

COMMITTEE ON WAYS AND MEANS, 

SUBCOMMITTEE ON HEALTH, 

Washington, DC. 

The Subcommittee met, pursuant to notice, at 2:13 p.m., in Room 

B318, Rayburn House Office Building, the Honorable Fortney Pete 

Stark (Chairman of the Subcommittee) presiding. 

[The advisory announcing the hearing follows:] 

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ADVISORY 

FROM THE COMMITTEE ON WAYS AND MEANS 

SUBCOMMITTEE ON HEALTH 

FOR IMMEDIATE RELEASE CONTACT: (202) 225–3943 

March 07, 2007 

HL–5 

Subcommittee on Health 

Chairman Stark Announces a Hearing on 

Genetic Non-Discrimination 

House Ways and Means Health Subcommittee Chairman Pete Stark (D–CA) announced today that the Subcommittee on Health will hold a hearing on genetic nondiscrimination. The hearing will take place at 2:00 p.m. on Wednesday, March 

14, 2007, in Room B–318, Rayburn House Office Building. 

In view of the limited time available to hear witnesses, oral testimony at this 

hearing will be from invited witnesses only. However, any individual or organization 

not scheduled for an oral appearance may submit a written statement for consideration by the Committee and for inclusion in the printed record of the hearing. 

BACKGROUND: 

One of the most significant scientific accomplishments in history has been sequencing the human genetic code—a breakthrough that is already transforming the 

battle against a broad range of medical conditions. As a result, scientists have identified genetic markers for a variety of chronic health conditions, increasing the potential for early treatment and prevention. Genetic tests provide information to diagnose conditions, guide treatment decisions and predict future risk of disease. 

Alongside these benefits reside concerns about how genetic testing might be used. 

This threat has deterred the public and the scientific community from taking full 

advantage of the important opportunities that genetic information affords. Of particular concern is the potential for discrimination. A number of institutions, including health and life insurance companies, health care providers, blood banks, adoption agencies, the military, and schools were reported to have engaged in genetic 

discrimination against asymptomatic individuals. 

The lack of a federal policy protecting genetic information has resulted in both 

actual and perceived acts of discrimination. It has also encouraged inconsistent legal 

responses to grievances associated with such discrimination. As the tax writing authority for the U.S. Congress, the Ways and Means Committee can enforce federal 

insurance laws that apply to ERISA plans, which provide health benefits to the vast 

majority of Americans. In addition, the Committee has jurisdiction over federal laws 

relating to Medigap policies. 

In announcing the hearing, Chairman Stark said, ‘‘No one should face discrimination in employment or be denied health insurance based on their 

genetic information. In order to ensure that genetic science reaches its full 

potential, patients need to trust that their information will be protected. 

Otherwise, people will rightly be reluctant to undergo genetic tests that 

could save lives.’’ 

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FOCUS OF THE HEARING: 

The hearing will focus on the need for a federal policy to protect genetic information and legislation to achieve this purpose, specifically, the Genetic Information 

Non Discrimination Act. 

DETAILS FOR SUBMISSION OF WRITTEN COMMENTS: 

Please Note: Any person(s) and/or organization(s) wishing to submit for the hearing record must follow the appropriate link on the hearing page of the Committee 

website and complete the informational forms. From the Committee homepage, 

http://waysandmeans.house.gov, select ‘‘110th Congress’’ from the menu entitled, 

‘‘Committee Hearings’’ (http://waysandmeans.house.gov/Hearings.asp?congress=18). 

Select the hearing for which you would like to submit, and click on the link entitled, 

‘‘Click here to provide a submission for the record.’’ Once you have followed the online instructions, completing all informational forms and clicking ‘‘submit’’ on the 

final page, an email will be sent to the address which you supply confirming your 

interest in providing a submission for the record. You MUST REPLY to the email 

and ATTACH your submission as a Word or WordPerfect document, in compliance 

with the formatting requirements listed below, by close of business Wednesday, 

March 28, 2007. Finally, please note that due to the change in House mail policy, 

the U.S. Capitol Police will refuse sealed-package deliveries to all House Office 

Buildings. For questions, or if you encounter technical problems, please call (202) 

225–1721. 

FORMATTING REQUIREMENTS: 

The Committee relies on electronic submissions for printing the official hearing 

record. As always, submissions will be included in the record according to the discretion of the Committee. The Committee will not alter the content of your submission, 

but we reserve the right to format it according to our guidelines. Any submission 

provided to the Committee by a witness, any supplementary materials submitted for 

the printed record, and any written comments in response to a request for written 

comments must conform to the guidelines listed below. Any submission or supplementary item not in compliance with these guidelines will not be printed, but will 

be maintained in the Committee files for review and use by the Committee. 

1. All submissions and supplementary materials must be provided in Word or WordPerfect 

format and MUST NOT exceed a total of 10 pages, including attachments. Witnesses and submitters are advised that the Committee relies on electronic submissions for printing the official 

hearing record. 

2. Copies of whole documents submitted as exhibit material will not be accepted for printing. 

Instead, exhibit material should be referenced and quoted or paraphrased. All exhibit material 

not meeting these specifications will be maintained in the Committee files for review and use 

by the Committee. 

3. All submissions must include a list of all clients, persons, and/or organizations on whose 

behalf the witness appears. A supplemental sheet must accompany each submission listing the 

name, company, address, telephone and fax numbers of each witness. 

Note: All Committee advisories and news releases are available on the World 

Wide Web at http://waysandmeans.house.gov. 

The Committee seeks to make its facilities accessible to persons with disabilities. 

If you are in need of special accommodations, please call 202–225–1721 or 202–226– 

3411 TTD/TTY in advance of the event (four business days notice is requested). 

Questions with regard to special accommodation needs in general (including availability of Committee materials in alternative formats) may be directed to the Committee as noted above. 

f 

Chairman STARK. We will begin the hearing, and Congressman 

Camp has been otherwise detained and probably went over for the 

vote. 

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I will start, and thank you for being here to discuss the potential 

for genetic science and the need to protect genetic information. 

We find that patients are reluctant to undergo genetic tests, unless they can be sure the results won’t be used against them, and 

I don’t blame them. Health insurers are in the business of not paying out money when they can avoid it, and so they have got an incentive to use whatever genetic information they can get to deny 

coverage or raise rates. 

Employers can also use this information in hiring decisions and 

one of our witnesses will describe his victimization in that area. 

We have got to ensure that patients and workers are protected 

against the discrimination so they can realize, as all of us should 

be able to realize, the benefits of genetic testing. 

We have been deliberating this policy for 12 years. We made 

some improvements in HIPAA and many states have enacted some 

protection since then. The laws vary greatly and we should have, 

I think, comprehensive protections. 

It appears we are close to realizing our goal to ban discrimination on the basis of genetic information and the Senate has passed 

similar bills. It is my understanding the administration supports 

the bill that is now moving through Congress. I look forward to 

working with my colleagues on this policy. 

Congressman Johnson has graciously offered to put Congressman 

Camp’s opening statement in the record. On the conclusion of that, 

we will hear from Dr. Collins, who is the director of the National 

Human Genome Research Institute at NIH in Bethesda. 

But if you will withhold, and Mr. Johnson, would you like to submit Mr. Camp’s remarks or put them in the record? It is up to you. 

Mr. JOHNSON. If you don’t mind, Mr. Chairman, I would just 

like to say that in his closing paragraph, he says, as this Committee considers the Genetic Information Nondiscrimination Act, I 

hope we will recognize that, with sufficient protection in place surrounding use of genetic information, the information can be used 

in positive ways that actually improve the lives of patients and we 

should not hinder these promising medical advances as we attempt 

to protect patients and employees. He thinks we can work together 

to do that. 

I would like to insert the whole thing in the record. 

Chairman STARK. Without objection, the opening statements 

will be in the record in their entirety. 

[The information follows:] 

I would like to thank all of the witnesses for testifying today about this important 

issue. 

I think we are all in agreement that individuals should not be discriminated 

against on the basis of their genetic information. Insurers should not be allowed to 

use genetic ‘‘markers’’ to deny insurance coverage or increase out-of-pocket costs, nor 

should employers be allowed to fire employees simply because they possess a gene 

that could lead to a particular disease later in life. 

However, the use of genetic information is not always harmful to patients. As 

we’ll hear later from Dr. Corwin, advances in medicine have allowed doctors to tailor treatments in accordance with an individual’s genetic information. Results from 

genetic tests allow physicians and other providers to better target preventive care 

and disease management techniques to those who need it most. 

For example, a patient that possesses a gene for a type of colorectal cancer would 

be recommended to receive more frequent cancer screenings. Knowing this, the 

health insurer would know to approve coverage for these additional screenings because the patient would be at a higher risk of developing colorectal cancer. Early 

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detection and treatment has been proven to produce significant savings and improve 

quality of life. 

As this Committee considers the Genetic Information Non-Discrimination Act, I 

am hopeful we will recognize that, with sufficient protections in place such data can 

to improve the lives of patients. These promising medical advances should not be 

hindered as we attempt to protect patients and employees. I am confident that we 

can both protect patient privacy and improve health care services. 

With that, Mr. Chairman, I yield back the balance of my time. 

Chairman STARK. Dr. Collins, why don’t you proceed in any 

manner you are comfortable? I want to just tell our guests that Dr. 

Collins may have to zip out of here to make a plane, and we will 

excuse him at any time he feels it’s necessary. 

Proceed. 

STATEMENT OF FRANCIS S. COLLINS, DIRECTOR, NATIONAL 

HUMAN GENOME RESEARCH INSTITUTE, NATIONAL INSTITUTES OF HEALTH 

Dr. COLLINS. Thank you, Mr. Chairman. Good afternoon. 

Yes, I am Francis Collins. I am a physician and a scientist. For 

the last 14 years, I have been at the National Institutes of Health 

and I have had the great privilege of leading the Human Genome 

Project, which many have considered to be the most important scientific undertaking that humankind has ever mounted, reading out 

the letters of our own DNA instruction book. 

The purpose of this was to advance medicine, to improve the likelihood of people staying healthy and to treat disease more effectively when it occurs. We are making great progress. 

The Human Genome Project accomplished all of its goals ahead 

of schedule and under budget in 2003 and, on top of that, we have 

now built several more new discovery engines that have put us in 

a position now to be able to discover what, in fact, are the hereditary factors in a long list of diseases that are particularly common 

in our population. In just the last 2 years, we have discovered 

major genetic factors for macular degeneration, one of the most 

common causes of blindness in the elderly; for prostate cancer, for 

Crohn’s disease; and in a particular explosion of information happening right now about adult onset diabetes. 

We have known that these are conditions that run in families, 

but now we are on the brink of very precisely identifying why that 

is and providing the opportunity to tell individuals who are at high 

risk about their risk, and therefore giving them a chance to reduce 

that risk by changing diet, lifestyle or medical surveillance. 

This then puts us in a circumstance of being able to contemplate 

a future of truly personalized medicine. You wouldn’t go to the shoe 

store and buy any old pair of shoes off the rack; you would want 

to be sure it was your size. Yet in medicine, we have often been 

forced to practice one size fits all because we didn’t have the information about individual parameters to be able to do a better job. 

We are now able to do that in some instances, and that is growing 

by the day, not only in terms of predicting risk of disease but also 

being able to choose the right drug for the right person at the right 

time, based on their individual DNA sequence. 

Yet there is a cloud on this horizon. The cloud gets darker and 

more threatening every day, and that is the risk of genetic discrimination. 

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Individuals who might wish to have this information about their 

own future risk of illness or about what drug they might best be 

treated with are terrified that if that information gets into the 

wrong hands, it may result in loss of their health insurance or potentially loss of their job. While there is, as the Chairman has indicated, effort under way in many states to deal with this, it is a 

patchwork of different kinds of laws with many exceptions. If we 

really want to protect the American public, we would have to do 

it with Federal legislation. 

Twelve years ago, colleagues of mine and myself wrote a paper 

in the journal Science advocating for the importance of this kind 

of Federal legislation. It has been a long, hard slog getting to this 

hearing today where it does appear that finally there is momentum 

to see this happen. 

Let me quickly put a human face on the issue. On the screen 

over here, you see a diagram of a family. You can tell who are boys 

and who are girls by the figures here. I draw your attention to the 

individual with the red arrow. 

This woman came to seek advice because she had suffered from 

both uterine and colon cancer at a relatively early age, in her thirties. It turned out, so did her mother and so did her aunt. 

After some investigation, it turns out that this is one of those situations where the precise DNA glitch could be identified. She was 

actually not sure she wanted that done because of her concern it 

might be used to take away her health insurance. But ultimately 

she decided to go through with it. 

She was found to carry a specific misspelling in a particular 

gene, which confers this high risk of colon and uterine cancer to 

anybody in the family who carries that same glitch. The other people you see there in yellow are all at high risk of also having that 

same misspelling and a test is immediately available for them. 

Yet, in this family, after much discussion amongst the family 

members, not a single one of them decided to take advantage of 

that test, even though we know that in this situation, knowing 

you’re at high risk can be life saving, allowing you then to get into 

a program of annual colonoscopy starting at a very early age, picking up that early tumor while it is still easily treated. 

So, this is a real example where the risk of genetic discrimination is probably going to cost somebody their life because of their 

fear of being able to get the information that they otherwise need. 

That is not just this family. A recent survey done by my colleague, 

Kathy Hudson, revealed a couple of weeks ago 93 percent of the 

American public, when asked the question whether this kind of genetic information ought to be available to employers or health insurance companies said, absolutely no. So, this is a widespread concern. 

At NIH, where we do a lot of genetic research, fear of genetic discrimination is causing many people to decide not to participate in 

that research, which both deprives them of the opportunity to get 

useful information and deprives all of us of the results of the research. 

So, we need to take action, and the sooner the better. Every day 

that goes by, we are missing out on opportunities. As this kind of 

information more and more moves into the mainstream, and it will 

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soon, it will have a dampening effect to say the least if people are 

afraid of obtaining this information about themselves. 

This is about all of us. There are no perfect genetic specimens. 

We all have these glitches. We have the chance to find out what 

they are in a way that will benefit us. But we need to be assured 

that that is safe. 

Thomas Jefferson wrote the words that you see over there on the 

Jefferson Memorial: ‘‘Our laws and institutions must go hand in 

hand with progress of the human mind.’’ 

Progress of the human mind has led us now to this remarkable 

point where we can read our own DNA instruction book. Our laws 

and institutions need to keep up with that, providing people with 

the kind of reassurance that this information is safe to obtain and 

won’t be used against them. This is an issue of equity, of justice 

and of civil rights. You don’t get to pick your DNA; it shouldn’t be 

used against you. 

The President of the United States in his visit to NIH earlier this 

year strongly endorsed the need for this legislation. Secretary 

Leavitt has been very much out in front of the promise of personalized medicine and the need for better policies to provide a safe harbor for people who wish to have the information as part of their 

medical care. So, all of us hope that this will be the year where the 

American people are given a gift by the Congress that is long overdue: Federal legislative protection against genetic discrimination. 

Thank you very much. I will be glad to answer your questions. 

[The prepared statement of Dr. Collins follows:] 

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Chairman STARK. As I understand it, most of us are not offered 

these tests at our regular annual physicals and so we don’t have 

many cases of actual discrimination. People have suggested we 

wait until the testing is more universally performed. Would you 

have any comment on that strategy? 

Dr. COLLINS. If you were standing in the middle of a train 

track and the train was headed toward you but it wasn’t going to 

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hit you for another 10 minutes, I suppose you could decide to wait 

a little longer and see if you could just, in the nick of time, jump 

out of the way. 

If, on the other hand, you are a thoughtful person or trying to 

preserve life, it would probably be better to make another plan. 

Yes, you are quite right. Most of us have not yet been offered this 

kind of test. Even though there are a thousand tests available, they 

are mostly for rare diseases. As the family I showed you indicates, 

oftentimes the trigger is a very strong history and not all of us 

have family histories like the one I have shown you. 

But increasingly, this is coming into the mainstream. Certainly 

with the proliferation of discoveries about diseases like diabetes 

and Alzheimer’s, asthma, hypertension and so on that are happening right now, it is only a matter of time, a short period of time, 

before this does find its way into the kind of talk you are going to 

have with your physician in the next few years. Do you want to 

know about these risks? Many people will want to answer that, 

yes, and to be reassured that it is safe to do so. 

Chairman STARK. Well, where do I go, Doc? Say, all right, I am 

a believer and I want to go have my DNA recorded and then I want 

somebody to tell me which of these ugly things are going to happen 

to me, is that available to people with an internist as a primary 

care physician or people in health plans, generally? What do you 

do if you want to do it? 

Dr. COLLINS. At the present time, the first thing would be to 

collect a really detailed family history. Because family history is actually a genetic test that is quite revealing and actually free. You 

don’t have to send off your DNA anywhere. Then a physician who 

is knowledgeable about genetics, which increasingly is more and 

more physicians—that is something we are working on—or a genetic counselor could look at your pedigree and say, okay, here are 

some particular things that we might want to think about testing 

for. 

At the present time, that would be the trigger. We are not at the 

point where we yet have any tests that are being recommended for 

everybody as a screening test for future risk. Before taking that 

step, you want to be—— 

Chairman STARK. But even though you don’t recommend it, is 

there one? 

Dr. COLLINS. So, if you want to go to the worldwide web, you 

can find organizations that will market a lot of genetic tests to you 

at a certain price. I would be a little wary of those. If you look carefully, many of those are tests that have not been scientifically validated. They will also oftentimes, after offering you the test, try to 

sell you a nutritional supplement that will take—do something 

about your genetic deficiency. So, there is a little bit of a racket 

going on. 

Chairman STARK. I can’t get by the Viagra ads on the Internet, 

much less worrying about those guys selling me the other supplements. 

Dr. COLLINS. These are in some of the same category, I am 

afraid. So, we are not quite there. 

But, Mr. Chairman, I think again for some people we are there. 

For that family, we are there. You will hear from Mr. Escher on 

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the second panel, about how this kind of genetic testing was applied to him without his knowledge. 

Again, why would we want to wait to fix this issue from a policy 

perspective until we have hundreds of millions of victims? If we can 

kill the risk here earlier on, we should do so. 

Chairman STARK. Is there something we should do in Medicare, 

aside from this protection? I don’t suppose Medicare pays for this 

yet. Is there something we should do that would encourage or accelerate the more generalized use of these tests for the benefit of 

those of us who are Medicare beneficiaries? 

Dr. COLLINS. Sir, that is a great question. In fact, we have been 

in discussions with CMS about what would be the criteria to begin 

to reimburse for these genetic tests. 

The Secretary’s Advisory Committee on Genetics, Health and Society, SACGHS, has been meeting on a variety of topics like this 

and, in fact, issued a report about a year ago on coverage and reimbursement for genetic tests, which specifically addressed the question that you asked and, I think, made a number of points about 

what criteria Medicare might want to consider in making a decision about when to cover for these kinds of predictive genetic tests. 

I think those are thoughtful recommendations. I think they are 

under serious consideration. It is, in fact, a very good thing that 

there is at a high level this advisory Committee that advises Secretary Leavitt about genetics, because this is coming along so 

quickly. 

Chairman STARK. What does a genetic, you know, nice, broad, 

all-inclusive genetic test cost? To the closest thousand dollars. 

Dr. COLLINS. That is a hard question, because both of the number of genetic tests is expanding quickly and the cost is coming 

down so fast. At the present time, you could test a specific place 

in your DNA sequence and ask whether it is a letter T or a letter 

C for something in the neighborhood of less than 50 cents. But, of 

course, on top of that you have to have quality control and you 

have to have somebody who is going to sit down with you and 

spend health professional time going over the meaning of the result. 

So, I actually think it is not the cost of the test that is going to 

be limiting. It is going to be the other important aspects of that, 

as far as the delivery of that information, so that you can use it 

in a way that benefits your own health, instead of just giving you 

a laundry list that doesn’t make sense. 

Chairman STARK. Thank you. 

Mr. Johnson, would you like to inquire? 

Mr. JOHNSON. Thank you, Mr. Chairman. 

You know, I appreciate the fact that people, including me, want 

their genetic information protected from the wrong eyes. This legislation that we are considering has a fairly broad definition of genetic information, including family history, which you say is important. 

Dr. COLLINS. Yes. 

Mr. JOHNSON. Do you think that is too much or not enough? 

Dr. COLLINS. I think it is actually quite critical to include family history. As you can see from this example, a family that I talked 

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about, family history is often the trigger that initiates an examination that results in a genetic test being conducted. 

You can imagine if legislation covered only the results of a test 

but not the family history, then the amount of protection being offered would be quite limited and almost nonexistent in a situation 

such as this sort. After all, the insurance company or the employer 

might say, well, it wasn’t the genetic test that caused me to decide 

to jack up the premiums or to pass over this person for a promotion; it was their family history. Unless family history is included in the definition of genetic information, then essentially this 

bill would be toothless. 

Some of the states have, I think, made that mistake and have 

bills that have genetic information that don’t include family history. 

Mr. JOHNSON. Yes, but what percentage of the family history, 

what percentage of the time does it actually come true that they 

pick up this problem? 

Dr. COLLINS. Sure. Most of the time, family history is a clue 

but it is not certainly determinative of what is likely to happen. 

Mr. JOHNSON. Right. Right. 

Dr. COLLINS. Again, the point of the bill is to try to say if there 

is predictive information about somebody’s likelihood of falling ill 

downstream, and they may well not fall ill downstream, that predictive information ought not to be used to take away their health 

insurance access or their access to a job. They ought to be judged 

on other—— 

Mr. JOHNSON. I know. But our job is to try to keep the insurance companies from doing just what you said. How do you do 

that? 

Dr. COLLINS. The way this bill has been written, and it has 

been under construction now for many years in the many iterations 

that we have gone through over 12 years getting to this point—— 

Mr. JOHNSON. I understand that, and that has been one of the 

problems we have had. 

Dr. COLLINS. I think it has carefully considered all the ways in 

which there might be loopholes to the protections that the public 

needs and expects and tried to cover those loopholes with things 

such as including the family history in the genetic information definition. 

Mr. JOHNSON. Well, but you made the statement also, I believe, 

that it requires several if not a whole bunch of people to figure out 

the family history. How do you keep all that information confidential? 

Dr. COLLINS. Again, it should not be confidential to the health 

care provider. Let us be clear, this bill, and it has some specific 

language in it that says this, should in no way be construed to 

interfere with the practice of medicine between the health care provider and the patient. 

What this is saying, in terms of the health insurance provisions 

is that the health insurance company may not request or require 

that kind of information. If they happen to obtain it, which they 

might very well in the process of reimbursement for services, they 

are not to use that information in a discriminatory way that would 

cause that person to lose access to health care. 

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So, it is, I think, worded appropriately, so it doesn’t get in the 

way of the delivery of medical care, because we all believe that 

ought to be better, not worse. But it puts in place protections 

against the misuse of the information in a discriminatory way. 

Mr. JOHNSON. I think our lawyers will like it. 

Thank you, Mr. Chairman. 

Chairman STARK. Mr. Thompson, would you like to inquire? 

Mr. THOMPSON. Thank you, Mr. Chairman. 

Could we talk a little bit about how the folks’ concern that they 

may be subject to discrimination is affecting efforts in regard to research? 

Dr. COLLINS. Certainly. That is a very serious issue right now. 

This is not a hypothetical future risk. In fact, we have documented 

this over the course of more than 5 years. 

At NIH, we run many research protocols where it is part of the 

protocol to undergo a genetic test, whether it is for colon cancer, 

as in this situation, or breast cancer or diabetes or a variety of 

other conditions. Individuals are intensely interested in those research protocols, especially if they have a family history and they 

are wondering about their own future risk. 

We have documented that the most common reason why someone 

who is otherwise very interested and willing to join up to a research study decides to back away and that reason is genetic discrimination. Roughly a third of the people who would otherwise 

participate are now deciding not to, specifically because of this concern. 

As a physician, I can’t sit across from somebody expressing that 

concern and tell them that their concerns are unwarranted. At the 

present time, without this legislation, they are actually, I think, 

looking at a serious risk. Even though we are very careful about 

how we keep the information confidential. 

This is permanent information. Once you have had a genetic test 

that shows something about your genome, that is going to be with 

you from now on. Without the assurance that it won’t come back 

to bite you, some people just aren’t willing to take the chance. 

Mr. THOMPSON. Are those data quantifiable, or is this anecdotal? 

Dr. COLLINS. They are quite quantifiable. So, I can submit for 

the record, three manuscripts that have been published that describe what those statistics look like. They all come up with this 

conclusion. It is about a third of individuals in these research studies who decide not to participate because of this specific fear. 

Mr. THOMPSON. Mr. Chairman, I would like to ask that those 

documents be submitted for the record. I think that that is very important. Because it sounds like if this bill were to pass, that would 

fix a lot of this problem. 

Dr. COLLINS. A huge sigh of relief would settle over the research community that we would no longer be in the embarrassing 

position of having to tell people that this is not a safe procedure 

to undergo. A huge sigh of relief would fall over some of the physicians who are currently in a position of having to advise patients 

with a high risk of breast cancer that if they are going to undergo 

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19 

a BRCA1 test, they might want to do it under a false name. People 

are doing that right now. 

Mr. THOMPSON. Great. I think that is important. 

[The information follows: PENDING] 

Mr. THOMPSON. Then the other question I have is, if the bill 

were to pass, are there any things in this that we should be concerned about as far as it would impact prevention and wellness 

programs that are offered by some health plans? 

Dr. COLLINS. No, I don’t believe that there is a concern there. 

Obviously, that was an issue in the drafting of this bill to be sure 

that we didn’t discourage in any way wellness programs that employers—— 

Mr. THOMPSON. You feel that that has been well protected? 

Dr. COLLINS. I believe that that has been very well protected 

by the way the bill has been written. 

Mr. THOMPSON. Thank you, Dr. Collins. 

I have no further questions, Mr. Chairman. 

Chairman STARK. Mr. English, would you like to inquire? 

Mr. ENGLISH. Thank you, Mr. Chairman, I would. 

Dr. Collins, welcome. We are delighted to have you here and I 

am particularly delighted to be an original cosponsor of Representative Slaughter’s bill. 

Looking at the big picture, sir, can you tell us first of all what 

the current cost of a genetic test is? Second of all, if utilization increases, what likely impact is that going to have on the quality of 

genetic testing and its cost? 

Dr. COLLINS. So, currently the costs are all over the place in 

terms of a specific test. As I mentioned earlier, the actual cost of 

being able to go and look at DNA from an individual and say, do 

you have a T or a C in that position has dropped profoundly and 

is in the neighborhood of less than a dollar. 

But on top of that, there are many other costs that fit in, and 

I might mention that one of them is that some of these tests have 

been exclusively licensed to a single diagnostic company, which has 

tended to discourage competition, and so some of the tests have, in 

fact, remained more expensive than certainly on a technical basis 

you would expect they need to be. Including at least one that is up 

in the neighborhood of $3,500 for a genetic test. 

But those costs will be coming down, and will be coming down 

rather quickly, I think, as the number of tests grows and the ability to multiplex them increases. 

The wider availability of such tests, I think, would in fact drive 

costs down. It would certainly improve the possibilities of individualized prevention, something that we all hope and dream for. At 

the moment, if you are going to go to your physician and say, I 

think I want to practice better prevention, what should I do, you 

will get a sort of one-size-fits-all prescription, maybe a little bit 

tweaked by your family history or your blood cholesterol, but not 

in an individual way that would be possible with this new kind of 

information. 

So, as we bring that more into the mainstream, I think that will 

have the potential of keeping all of us healthy for a longer period 

of time. Goodness knows, if we are going to sustain the costs of our 

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20 

health care system, we have to do a better job of focusing on 

wellness instead of treating far advanced disease. 

Mr. ENGLISH. Dr. Collins, that was going to be my next question. You know, assuming for a moment, I mean, there are a number of proposals out there for how to cure the health care system 

itself. But given the fact that most of them, I think, are grounded, 

whether they are based on a government model or a market model, 

most of them are grounded in achieving cost savings. 

How would a broader use of this sort of testing contribute substantially? Can you give us an example of a utilization of this test 

that is just now on the horizon that could have a significant impact 

on the cost of health care? 

Dr. COLLINS. My boss at the NIH, the NIH Director, Elias 

Zerhouni, is fond of pointing out the four P’s of where we are going 

in terms of the practice of medicine, if we are going to drive down 

costs. That is personalized, preemptive, and predictive. All of those 

apply to what we are talking about here, as well as participatory, 

the fourth P; that is, getting everybody engaged in more attention 

to their own medical care. 

I can give you an example right now where costs have already 

been documented to be reduced. Interestingly it is the same condition that is diagramed there on the screen, a condition called hereditary nonpolyposis colon cancer. This affects something like one 

in 500 individuals in this country who will carry a misspelling in 

one of these genes that causes colon cancer and sometimes uterine 

cancer as well. 

We know that if we could identify those individuals, tell them of 

their risk, get each of them into a program of colonoscopy beginning at an early age, maybe age 35 instead of age 50, you can go 

through the calculations and they have even documented this now 

in real cases that have been followed for some time, that you will 

reduce substantially the downstream occurrence of metastatic colon 

cancer, which both costs productive years of someone’s life and actually costs medical care dollars in great excess of what the 

colonoscopy would have cost. That is a published analysis that will 

tell you this is an approach that not only saves lives, it saves 

money. 

Mr. ENGLISH. Thank you, Doctor, and thank you, Mr. Chairman. I yield back the balance of my time. 

Chairman STARK. Mr. Becerra, would you like to inquire? 

Mr. BECERRA. Thank you, Mr. Chairman. 

Dr. Collins, thanks for being here with us. Let me ask a couple 

of questions regarding how far we extend the protection. I think 

most of us agree that we need to do more to protect individuals 

when it comes to the use of the information, genetic information. 

But we also want to make sure that because it is genetic information, it goes beyond just the individual but includes family members as well. 

How far do we extend that? At what point do you say that you 

can’t protect the great-great grandchild of the person whose genetic 

information was taken? 

Dr. COLLINS. So, obviously, there is no bright line one can draw 

and say, well, family history is no longer relevant. When you get 

to that point, the way the bill has been written, it goes to the 

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21 

fourth degree relative, which is to say if you’re talking about me, 

you could be talking about my mother, that would be one degree; 

my aunt, that would be two; my cousin, that would be three; my 

first cousin, once removed, that would be four. That is a bit of an 

arbitrary dividing line, but it seems nicely inclusive of where most 

of the major risks are going to reside. 

Mr. BECERRA. I think a number of folks would say that is going 

pretty far out, that first cousin once removed. At what point, are 

you stifling the ability to actually use information for valid purposes? 

Dr. COLLINS. I hope not at all. Again, the purpose of this bill 

is simply to say that that kind of genetic, predictive information 

ought not to be used by a health insurance company, particularly 

in the individual underwriting market, or by an employer to make 

decisions that would discriminate against that individual. 

But it is, I hope, absolutely clear that this in no way is intended 

to inhibit an interaction between a health care provider and their 

patient, trying to assess what is best for them as far as preventive 

care that is going to keep them healthy. 

With regard to this fourth degree relative, again, just look at this 

family that is up there on the screen. While I won’t try to count 

through all the relationships, there are certainly people in that 

family who are at high risk for colon cancer who are fourth degree 

relatives of other people with colon cancer, because it has really 

traveled through that family in a very devastating way. 

Mr. BECERRA. Because this is science, this isn’t two dice that 

we are rolling on a table, we feel pretty comfortable that we can 

make these predictions that we need that type of protection for 

purposes of nondiscrimination, because it is based on hard numbers 

and available data? 

Dr. COLLINS. It will be based on hard numbers in the sense 

that you can make a prediction statistically based on somebody’s 

position in the family and what you have learned about their DNA 

sequence, what their likelihood is of falling ill. But I should be 

clear about this. 

Most of the genetic tests that are going to find their way into the 

mainstream of medicine in the next three or four or 5 years will 

not be yes/no; they will be, well, your risk is threefold higher of getting diabetes than somebody else. Or your risk of getting prostate 

cancer is threefold lower than somebody else. But you could still 

get it. 

The idea here, though, is to be able to optimize where you pay 

your highest level of attention as far as your own prevention, instead of having everybody do the same thing, which is what we 

have largely been doing before. But most of these tests are not 

going to be deterministic; they are going to be predisposing. 

Mr. BECERRA. I have one last question, Mr. Chairman, and Dr. 

Collins this is going to take you somewhat off base, so ratchet your 

brain a bit, because this is a different question. It still relates to 

genetic information. 

I would like you to give me your thoughts, and if you can’t give 

me too much right now, I would love to chat with you later on 

about this. 

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22 

Right now, we are talking about not misusing this information, 

not taking it beyond the health care arena to make decisions. I 

have a concern that we are seeing more and more genetic information being withheld because of the ability to patent genetic information, genes, and therefore keep it out of the public domain unless you are able to pay the high price to get the information. 

I know that is not necessarily the subject of this hearing, but I 

am wondering if you have any thoughts about the whole issue of 

patenting genes and genetic information? 

Dr. COLLINS. Thank you, Mr. Congressman. Yes, I have a lot 

of thoughts about that and if we had more time, I am sure we 

could dig deeply into that. I am aware of the bill that you and Mr. 

Weldon have recently introduced on the topic of gene patenting. 

This has been a subject of intense interest from the Genome 

Project’s perspective. One of the things that we did to try to defuse 

what was a bit of a gold rush toward claiming parts of the human 

genome was to put all of the information that we derived on the 

Internet every 24 hours, basically making it prior art and therefore 

less likely to have IP claims upon it. But, of course, a lot of genes 

did get claimed anyway. 

The NIH has worked hard, I think, to put out guidelines on this 

topic. I would particularly want to refer to the guidelines on research tools and also the guidelines on licensing of genetic discoveries because it is not just patenting, it is licensing that often either creates a good or a bad situation. 

I think we make a mistake, though, when we think of patenting 

of genes as a moral issue. I think it is really a legal question. The 

real deciding question ought to be, is this benefiting the public or 

not? Because clearly there are instances in which a patent benefits 

the public by providing the kind of impetus for developing a product that the public needs. 

One can cite the example of erithropoetin, for instance, as a very 

valuable pharmaceutical and those who developed that would tell 

you that a patent on the gene was essential from their perspective 

to invest the hundreds of millions of dollars that it took to get that 

drug to market. But is it reasonable to patent a gene where there 

is no therapeutic sort of pathway that is apparent? Many of us 

would say, no. 

In more than 10 years of working on this issue, it shareholder 

become clear to me that it is extremely nuanced and there is no 

sort of straightforward, easy answer to the kind of important question that you have just asked. 

I actually think, compared to where we were 10 years ago, there 

is a lot more sensibility out there. But we are living with the legacy 

of a lot of patents that were issued in the course of the last 10 

years that, in retrospect, may not have necessarily been good for 

the public. How we sift through that thicket and try to continue to 

make progress is providing a bit of a challenge. 

I am getting on a plane in about 3 hours to go to Europe to talk 

about an international project to try to inactivate every single one 

of the genes in the mouse, the mouse being our most important laboratory model. The biggest thing that is getting in our way is the 

thicket of patents about the technologies that have been developed 

to do this. It is actually creating quite a major headache. In retrojbell on PRODPC61 with HEARING

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spect, some of us wish that people had not been so quick to rush 

out there and claim those discoveries. 

Mr. BECERRA. Thank you for the answer. 

I yield back, Mr. Chairman. 

Chairman STARK. Mr. Camp. 

Mr. CAMP. Thank you, Mr. Chairman. 

Dr. Collins, good to see you again. I am sorry, I apologize for 

being late to the hearing. 

I appreciate your testimony, and obviously, this legislation has a 

lot of bipartisan support. It passed Education and Workforce with 

a voice vote. The idea of restricting insurers’ use of genetic information or employers, for purposes to either deny people coverage 

or deny them employment is something that nobody wants to see 

happen. 

But I have a question. You mentioned in response to a question 

that, obviously, having a health care provider and patient could be 

very, very helpful. The question I have is, if an individual has this 

information and needs extra cancer screenings or blood tests, their 

insurer is going to know because they are going to have something 

out of the norm. 

How do we safeguard using genetic information for positive reasons and also preventing it being used for the bad reasons? 

Dr. COLLINS. So, the drafting of this legislation very much 

seems to take that into very serious account in trying to get the 

balance right. Because, clearly, you don’t want to discourage the 

use of what could be highly valuable information because something in this legislation seems to imply that it is improper. 

Again, there is nothing in the legislation to say that a health insurer who learns about genetic information of one of the people 

that they cover is in trouble, as long as they did not request or require this and as long as they do not use this in a way to discriminate. But, clearly, they are going to obtain this information. 

Employers may, by accident, obtain this information. There is 

clear language in here to say there is a safe harbor if this is genuinely something that was dug out improperly, that there is no culpability on the part of the employer for that. 

I guess I take particular comfort in the language here, the rule 

of construction, which says, and I am quoting here: Nothing shall 

be construed to limit the authority of a health care professional 

who is providing health care services with respect to an individual 

to request that such individual or family member of such individual 

undergo a genetic test. 

So, they are trying very hard, I think, to make it clear what the 

goal is and what the goal is not. I think the way this is couched 

would accomplish that goal of encouraging the use of genetic medicine without allowing the discriminatory use, which will cause the 

public to stay away from it. 

Mr. CAMP. As well, you’re correct, not only will insurers get that 

information, but any employer will have copies of those insurance 

claims, they are going to have knowledge of any special test in the 

future that may be required because of a propensity for some kind 

of illness found out as a result of genetic testing. 

Dr. COLLINS. Again, I think the bill makes it clear that employers who obtain that information as part of the routine practice of— 

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the fact that they are responsible for health coverage for many of 

their employees are not held responsible for that. That is not considered a violation. 

It is considered a violation, on the other hand, if they require it 

or in other way put pressure upon the employee to go through a 

test that the employee was not planning to undertake. 

Mr. CAMP. You also indicate in your testimony that if safeguards are not put into law, there could be not as many advances 

in scientific research in this area. 

Dr. COLLINS. Yes. 

Mr. CAMP. That you are finding some research participants are 

concerned the information that may be found will be used against 

them? 

Dr. COLLINS. Yes, and there are well documented examples of 

that. 

Mr. CAMP. Is there any indication that some people just don’t 

want to know what their genetic information is? 

Dr. COLLINS. That is certainly true. In particular, in a circumstance, of course, where there is nothing you can do about it, 

genetic tests can predict your propensity for future illness. People 

are particularly interested if that is then tied to an action they can 

take to reduce that risk. In fact, it is that kind of study that we 

are primarily conducting at NIH where there is a potential intervention. Most people want that information. 

The kind where you can’t do anything about it, there are some 

research studies of that sort. Certainly some people decline simply 

because that is not information they want. 

Mr. CAMP. Just finally, I see my time is about to expire, but can 

you quantify the amount of research that might go forward if these 

safeguards are put in place? Is that possible to do? 

Dr. COLLINS. In a certain sense, that we can already tell you 

that studies that offer people genetic information as part of the research protocol, a third roughly—and this has been true of several 

different studies—of the people who are offered the possibility of 

participating and who say they want to, basically then walk away 

because of their fear of genetic discrimination. 

So, we would increase the participation overnight if we could assure people that that is no longer a risk. My hope is, it won’t be 

long before we can do that. 

Mr. CAMP. All right. Thank you very much again. Thanks for 

your testimony. 

Dr. COLLINS. Thank you. 

Chairman STARK. Ms. Tubbs Jones, would you like to inquire? 

Ms. TUBBS JONES. Thank you, Mr. Chairman. 

Good afternoon, Doc. How are you? 

Dr. COLLINS. Good afternoon. Just fine. 

Ms. TUBBS JONES. Good. My predecessor, the Honorable Congressman Louis Stokes, has a building named after him at NIH. 

Dr. COLLINS. My laboratory is in that building. 

Ms. TUBBS JONES. It is in that very building? I thought that 

it might be. 

I want to speak to you about health disparities and the impact 

that genetic testing could well have on the high rate of health disjbell on PRODPC61 with HEARING

25 

parity among African Americans and people in the majority in the 

country. 

Tell me your impression as to whether this will assist in relieving us of disparities or perhaps elevate some of the disparities. 

Dr. COLLINS. It is a very important question, and one that 

many of us have been wrestling with in terms of the most effective 

way to get the answers to the causes of health disparities, which 

we know continue and are vexing and troubling and do not show 

signs of going away any time soon. 

Obviously, when you see a circumstance where a particular 

group is experiencing a higher rate of an illness or a more severe 

form of the illness, there are many reasons why that might be. Certainly access to health care often turns out to be a very significant 

one, as do other environmental circumstances such as diet, such as 

cultural practices. But, of course, genetics is always in there as a 

possible contributor. 

We don’t know in most instances whether it is an important contributor or not. Until we find out, it is hard to come up with a good 

prescription of how it is we can close these gaps as far as experiences of good health. 

I will tell you one example. Prostate cancer. We have known for 

a long time that prostate cancer runs in families. We also know 

that prostate cancer tends to afflict African American males at a 

substantially higher rate and oftentimes at an earlier age. The 

question has been, what is that about? 

Within the last year, there has been a discovery of a major gene 

that seems to be involved in prostate cancer risk, initially discovered in Europeans and subsequently, in a very careful study of African Americans, it looks as if it may be even more important in 

that group. So, in this one instance, we might have a clue that at 

least part of that health disparity ties into this particular genetic 

factor. 

Now, that could be extremely useful to know in the sense that 

that genetic factor may predict a bit about how to follow those individuals and what kind of intervention might work. Instead of the 

one size fits all, well, you know, you should go to the doctor, you 

should have your PSA, maybe, maybe not, depending on who you 

ask. Now, finally, we are going to have more of a bright light shining on the cause of this illness. What I am saying for prostate cancer is now being attempted for diabetes, another disease of major 

health disparity. 

Ms. TUBBS JONES. The true dilemma is that, historically, African Americans have been reluctant to participate in any type of research based on their experiences of discrimination in research in 

health care. 

Dr. COLLINS. Understandably. 

Ms. TUBBS JONES. To add to that, the genetic testing presents 

another level of concern. 

I also am smiling because I am sitting here thinking about the 

fact that Reverend Sharpton has now learned that he is related to 

Strom Thurmond. I guess Strom is turning over in his grave, but 

just to think about the connection between—for majority and minority in terms of that. 

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But I really want to go back and focus—that was kind of a lightness in what I was talking about. But the reality is that discrimination, which may appear to be or a policy which maybe appear to 

be neutral on its face can have a discriminatory impact. That is 

why in litigation with regard to discrimination, we look to not only 

whether it is neutral on its face but whether it has a discriminatory impact. 

I am just saying to you, based on my experiences in that and the 

fact that I am African American and represent a large population, 

and I know I speak on behalf of the Congressional Black Caucus 

on this issue, that as we walk down this road, we need to be particularly concerned about the impact that this could have on not 

only African Americans but other minorities in our country about 

access to health care and research and the like. 

I thank you for your response. I think that we have an opportunity to really make a significant impact. But I am just trying to 

back up and say, pay close attention. 

Dr. COLLINS. I am totally with you. I agree that is an issue that 

we ought to have at the top of our agenda as we see how personalized medicine begins to become a reality. 

My hope would be that this bill, which takes genetic information 

off the table in important decisions about employment and health 

insurance, will be a step in the right direction. 

Ms. TUBBS JONES. Because it looks like possibly—and Mr. 

Chairman I know I am over time and I am almost done—that as 

we provide health care to all Americans, the worry is that there 

will be those who will cherry pick the most healthy people and 

leave the people who need the most health care out in a pocket by 

themselves, which makes their health care so much more expensive. 

I am hoping that, as we go down the genetic trail, we don’t give 

people who want to discriminate another opportunity. 

Dr. COLLINS. I completely agree we you. At the moment, they 

have that opportunity in certain loopholes. This bill aims to plug 

those. 

Ms. TUBBS JONES. Thank you, Mr. Chairman. Thank you, Doc. 

Chairman STARK. Thank you. 

Mr. Emanuel. 

Mr. EMANUEL. Mr. Chairman, thank you. 

Dr. Collins, I will try not to make you late for your flight to Europe here. 

Pretty much a lot of the other questions I was going to ask have 

been asked. So, if I could just narrow it down to just one particular 

subject, and that would be the overlap between the research you 

are talking about, genetic code, genetic information, and the area 

of medical records. 

I am hoping our full Committee and this Subcommittee will deal 

with the issue of medical records, electronic medical records, and 

how do we want to do something over here and something over 

here and the two aren’t either complimentary or cognizant of each 

other. 

So it is not a specific question, how do you protect genetic information. But it is a specific question. If you could look forward, 

what guidance would you give to us? As I do think we have to deal 

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with medical records, electronic medical records that is. What information would you impugn to us or give to us so we do that right, 

so that we can accomplish both goals? 

Dr. COLLINS. That is a great question and one that many of 

us—— 

Mr. EMANUEL. I will make sure my staff know, since they 

thought about it. 

Dr. COLLINS [continuing]. Many of us are thinking about exactly that, and certainly Secretary Leavitt is both extremely persuasive about the need to hurry up here with electronic health 

records and also very committed to this idea of personalized medicine. So, this is being discussed at a very high level in the Department of Health and Human Services. 

That includes, by the way, a serious discussion about how we 

should take genetic information that is going to find its way into 

these electronic records and standardize it so that you could actually make some sense out of it when you are trying to compare 

across different databases. 

For me, as a researcher, the chance that over the course of the 

next few years we might be able to learn an awful lot more about 

the interaction between genes and the environment will mean that 

we need to have standard ways of keeping track of both environmental exposures and genetic information in an electronic form. 

I think actually these things dovetail quite nicely. Because the 

fact that you are trying to develop an electronic health record with 

a standardized way of incorporating genetic information provides 

you the opportunity to put it into a field that is appropriately labeled so there will be no ambiguity here about whether this is 

something which ought to be protected by this particular nondiscrimination bill. 

As opposed to the current rather messy medical records system, 

where you might have to sift through many pages of hand-scribbled 

notes to even be quite sure what is in there that ought not to be 

used by a health insurance company in doing individual policy underwriting. 

So, my hope would be that if we have a system that can actually 

better incorporate and better label the information about each of us 

in our medical care, that will facilitate the process of avoiding the 

kind of discriminatory actions that otherwise could happen. 

Mr. EMANUEL. Mr. Chairman, I don’t have any other questions. 

I do think that as we look at the notion of electronic medical IT, 

electronic medical records, this information, I think, will be very 

important in guiding us as we start to develop that piece of legislation, which I know has been a priority for you and something we 

discussed in the last congress. 

Chairman STARK. Thank you. 

Mr. Pomeroy, would you inquire? 

Mr. POMEROY. Thank you, Mr. Chairman. I have no questions. 

I just commend Dr. Collins for the wonderful presentation he gave 

the National Prayer Breakfast. I completely enjoyed it. I wish you 

had brought your guitar today; maybe you could have regaled some 

of this testimony in song. But you did a wonderful job and I have 

also enjoyed the testimony. I have no questions to add to it. 

Thank you. 

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Dr. COLLINS. Thank you. 

Chairman STARK. Thank you. Have a safe trip. Don’t forget 

your passport. 

Dr. COLLINS. I won’t get very far if I do. 

Thank you all very much. 

Chairman STARK. Thank you, Doctor. 

We will now have a panel inform us about various aspects of this 

issue. Ms. Karen Pollitz, who is the project director at Georgetown 

University Health Policy Institute; Ms. Sharon Terry, who is the 

president and CEO of the Genetic Alliance; Mr. David Escher, formerly in the employ of the Burlington Northern of Reno, Nevada, 

and Dr. William Corwin, the Medical Director of Clinical Policy, 

the Harvard Pilgrim Health Care service on behalf of America’s 

Health Insurance Plans. 

Why don’t I ask you to testify in the order in which I called you. 

So, Karen, welcome back to the Committee. Why don’t you proceed to enlighten us any way you would like. 

STATEMENT OF KAREN POLLITZ, PROJECT DIRECTOR, 

GEORGETOWN UNIVERSITY HEALTH POLICY INSTITUTE 

Ms. POLLITZ. Thank you, Mr. Chairman, Mr. Camp, Members 

of the Subcommittee. I am Karen Pollitz, and I direct research on 

private health insurance at Georgetown University’s Health Policy 

Institute. I am pleased to testify today about genetic discrimination 

in health insurance and about H.R. 493, also known as GINA, 

which would prohibit it. 

Congress and the states have already taken some steps to end 

genetic discrimination in health insurance but work remains to be 

done. For example, with HIPAA in 1996, Congress prohibited insurance companies in the small group market from denying coverage to any small employer based on any health status reason, including genetic information. HIPAA also limited the imposition of 

preexisting condition exclusion periods in all group health plans 

and prohibited pre-ex based on genetic information in all group 

health plans. 

However, HIPAA did not set any limits on what employer groups 

can be charged in terms of premiums based on the health status 

of members of the group. 

Congress has also limited medical underwriting in Medigap or 

Medicare supplemental insurance. Seniors who apply for Medigap 

policy within the first 6 months of Medicare eligibility cannot be 

turned down or charged more based on their health status. 

After this open enrollment period, however, seniors may face 

medical underwriting in the Medigap market. Federal law protections also do not apply to disabled beneficiaries under the age of 

65, although more than 20 states do limit medical underwriting by 

Medigap insurers for these individuals. 

In the past, critics have questioned the need for Federal law prohibition of genetic discrimination in health insurance arguing that 

very few such instances of problems have yet been documented. 

However, it is important to remember, as Dr. Collins just said, that 

very few individuals have undergone genetic testing to date. 

For example, since genetic testing for hereditary breast and ovarian cancer became clinically available via the BRCA1 and 2 tests 

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in the mid-nineties, 75,000 individuals have been tested through 

the commercial lab that holds the patent on these genes and approximately 9,000 have received a positive test result. So, there 

aren’t that many people yet to be discriminated against. 

My colleagues at Georgetown and I recently completed a study 

on individual health insurance market underwriting practices with 

respect to genetic information. We asked 23 individual health insurance companies to medically underwrite hypothetical applicants. 

Four pairs of applicants were presented. Within each pair, one 

applicant had received a positive genetic test result indicating 

higher risk of future disease. In seven instances, five of these 23 

responding medical underwriters said they would take an adverse 

action based on genetic information. They would turn the applicant 

down, charge them more, or permanently exclude coverage for their 

preexisting condition, which was the genetic information. 

We also asked underwriters what action they would take based 

on an applicant’s receipt of genetic services, which is mentioned in 

GINA. Specifically, we asked them to consider an applicant with a 

BRCA1 mutation whose doctor had discussed or recommended preventive surgery to reduce her future risk of cancer. Thirteen underwriters responded to this question. Of those, five said that they 

would take an adverse action based on even a discussion of risk reduction options and 10 of 13 said they would take an adverse action if the doctor had recommended an intervention to reduce risk. 

Our research findings confirm that patient fears about genetic 

discrimination in health insurance are not unfounded. A Federal 

law prohibition on medical underwriting based on genetic information in all types of health insurance is reasonable and good public 

policy. 

Finally, Mr. Chairman, I would just note there was discussion 

earlier today and concern has been raised at prior hearings that 

H.R. 493 would prevent insurers from using genetic information for 

medical appropriateness review of claims. It does not. 

Current law, health privacy rules, expressly permit the use of 

personal health information including genetic information for medical appropriateness reviews and H.R. 493 does not disturb that authority. The bill does prohibit insurers from requiring an individual 

to undergo a genetic test. That’s different. The decision to undergo 

a test is very personal and impacts not only the patient but potentially members of their family. As you heard Dr. Collins say, some 

people don’t want to have the test. So, that decision under the bill 

rests with the patient. 

But once a patient has undergone testing, the information about 

the results of that test can be available for appropriate uses by insurers. 

Thank you very much for your time today. 

[The prepared statement of Ms. Pollitz follows.] 

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Chairman STARK. Thank you. 

Ms. Terry, would you like to proceed? 

STATEMENT OF SHARON F. TERRY, PRESIDENT AND CHIEF 

EXECUTIVE OFFICER, GENETIC ALLIANCE 

Ms. TERRY. Chairman Stark, Representative Camp, and Members of the Subcommittee, thank you for the opportunity to testify 

here. Representative Slaughter, Biggert, Eshoo and Walden demonstrate robust vision and courage to introduce again the legislation that will make it possible for Americans to benefit from new 

genetic tests and technologies. 

My name is Sharon Terry, and I am the president and CEO of 

Genetic Alliance, which is a coalition of more than 600 disease support groups. Mine is not a chosen profession, I have been assigned 

it, since my two children have a rare genetic disease for which 

there is no treatment and I long for the day that we can have many 

people enter research. 

I am also the chair of the Coalition of Genetic Fairness and I 

have worked on this legislation for 12 years myself, since Chairwoman Slaughter first introduced it. With others present here, I 

founded the Coalition for Genetic Fairness to support this legislation and we have had a long and uphill battle. 

We are several hundred organizations strong and include members from every sector of society, disease support groups, health 

professional organizations, women’s leadership groups, labor 

groups, academic, and most significantly companies like 

Affymetrix, IBM and Twentieth Century Fox. We have compromised and conceded a great deal during these years and I believe that the bill before you is fair and well balanced. 

Many Americans fear that genetic information may be used by 

insurers and employers to deny, limit or cancel their health insurance and/or to discriminate against them in the workplace. As 

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ance and/or to discriminate against them in the workplace. As 

more genetic tests become available, there is real concern that this 

genetic discrimination will increase. More than 40 states have enacted legislation on discrimination and more than 30 states have 

enacted it in the workplace health insurance in the first case. 

Despite the presence of these state laws, only comprehensive 

Federal legislation can guarantee that everyone in the United 

States will be protected. This legislation will prohibit the use of genetic information as a basis of charging more for health insurance, 

limit the collection of genetic information by employers and insurance, limit the disclosure of genetic information by employers and 

insurers and apply to individual health insurers except if covered 

by the portability provision. 

In 1997, following a number of papers, some by Dr. Collins and 

others, and symposia calling attention to genetic discrimination, 

Chairwoman Slaughter and Senator Snowe introduced companion 

bills in the House and Senate. Over the next few years, there were 

several senate hearings, reintroduction of the bill in both chambers. 

President Clinton first endorsed the legislation and then signed 

an executive order to prohibit discrimination. Meanwhile the Secretary’s Advisory Committee on then Genetic Testing and the Coalition for Genetic Fairness among other bodies called for the passage of the legislation. 

In 2000, Dave Escher and others experienced discrimination, 

which he will tell you about after me. 

At the start of the 108th Congress, the bill was radically overhauled. We, the proponents of the legislation, were told that if we 

could give up the strong protections and remedies in the bill, it 

would move. The new bill narrowed the definition of genetic information, specifically excluding protections for genetic tests related 

to manifest disease. In addition, it required claimants to exhaust 

administrative state and Federal EEOC procedures before seeking 

court damage and limit the amount of punitive damages that can 

be awarded. 

The new compromise version, heavily compromised, passed the 

U.S. Senate in 2003 by a vote of 95 to zero but was never taken 

up in the House. 

In the 109th Congress, the Genetic Nondiscrimination Act of 

2005 passed 98 to nothing in the Senate. It was introduced again 

in the House in March of that year and the bill was referred to the 

three Committees, yours being one. It saw no action. President 

Bush released a statement of administrative policy supporting the 

legislation twice. 

The bill has again, this Congress, 110th, been introduced in both 

chambers. The Senate Committee on Health, Education, Labor and 

Pensions has approved it and the Senate will bring it to the floor 

for a vote soon. As you know, the other two Committees of jurisdiction here, and yours, have taken swift action which we appreciate. 

My passion for more than a decade has been fueled by the faces 

and the voices of the hundreds of individuals who have contacted 

us, fearing for their children, their families, their jobs, their insurance. Men, women and children, families from communities all 

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across this country have told us their stories and in some cases 

pleaded for us to help them. 

In 2003, Heidi Williams of Kentucky suffered discrimination 

when her children were denied health insurance from Humana because they are carriers of alpha-1 antitrypsin deficiency. Her third 

grade daughter wrote to her representative here in the house: 

Please help my mom stop people from treating others unfairly. 

Aren’t health and disease enough to worry about? We cannot afford to also worry about discrimination based on our mutations, silent mutations with no signs or symptoms. This is simply about 

preventing the misuse of genetic information. 

This is also about special interests. Let us put the special interest of all Americans above all else. Every one of you and each of 

your loved ones is at risk for some disease. We cannot yet easily 

reduce that risk, as Dr. Collins has said, but it is in your hands 

to reduce the risk of discrimination associated with that information. 

At the end of the day, we are relying on you to make it possible 

for individuals to use their genetic information for the health purposes it was elucidated. I have faith that you will relieve our burdens, your burdens, all our burdens, and I look forward to your 

good work. Thank you. 

[The prepared statement of Ms. Terry follows:] 

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Chairman STARK. Thank you, Ms. Terry. 

Mr. Escher, would you like to tell us about your experiences, 

please? 

STATEMENT OF DAVID ESCHER, RENO, NEVADA 

Mr. ESCHER. Yes. Thank you. My name is Dave Escher. I am 

53 years old, and I had been employed by Burlington Northern 

Santa Fe Railroad for over 26 years, as well as a member of the 

Brotherhood of Maintenance of Way during that time. 

I was born and raised in Herndon, Kansas, a small northwestern 

town in Kansas, with a population of 200 people. I graduated from 

high school in 1972 and began my career with Burlington Northern 

in 1976 and had that career abruptly end in 2002. 

I married my wife, Deb, in 1986. I have three daughters, Kelsey, 

Kara and Kristyn. We now live in Reno, Nevada, after relocating 

three-and-a-half years ago from McCook, Nebraska. 

My jobs within the company during that 26 years included such 

positions as laborer, truck driver, assistant foreman, machine operator and foreman. I was appointed to the Division Safety Committee and continued to serve on that Committee for over 12 years. 

I held such positions as maintenance of way representative, vice 

Chairman, and safety and health facilitator up to the time of my 

departure from the company. 

I was also selected as the McCook Division Safety Employee of 

the Year in 1994. I had always had a great working relationship 

with all my coworkers as well as those in upper management levels. 

Prior to my departure from the company, I began experiencing 

numbness, pain, and tingling sensations in my right hand. When 

the numbness began to move through my hand and up into my arm 

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and upper bicep, I went to see a doctor, who referred me to a specialist. It was determined that I had developed work-related carpal 

tunnel syndrome, for which surgery was necessary. 

After meeting with the operating surgeon, I received a letter 

from corporate headquarters stating that they were not satisfied 

with the initial test results and that they required further testing. 

In a subsequent visit to a neurologist, I once again had my hands 

X-rayed and another nerve conductor study was performed. The results again confirmed that I had carpal tunnel syndrome and that 

surgery was required and that the condition was work-related. 

Within 3 weeks of surgery, I received another letter from management demanding that I undergo more extensive testing and 

that an appointment was already set for me. Included in this letter 

was the requirement of a safety rule S–26.3, which gives the medical department the authority to require an employee to meet all 

requirements set forth by the medical department and that everyone must comply with these instructions or face the consequences 

of disciplinary action for being an insubordinate employee. 

After receiving this letter, I immediately contacted the company 

medical case manager with whom I had been dealing and I reminded her that I had already seen four medical professionals, undergone two nerve conductor studies, had received six separate Xrays of each hand, and now the company was demanding that I see 

yet a fifth doctor and undergo yet another nerve conductor study, 

with more X-rays. When I pressed for an explanation, I was told 

that as far as she understood, more information concerning my 

medical condition was needed. 

I went to the appointment as I had been ordered. During the procedure, seven vials of my blood were extracted, and the doctor once 

again confirmed that I did suffer the effects of carpal tunnel syndrome and that the condition is work-related. 

In a matter of a few days, I would learn from a co-worker who 

had refused to submit to that same order, and who also had been 

diagnosed with carpal tunnel syndrome, that I had been subjected 

to a genetics test through the blood which had been taken from me 

at that clinic. This was done without my knowledge and without 

my consent. 

I found myself in a state of disbelief and humiliation. I could not 

believe or accept what had just occurred. I experienced stages of 

denial, disbelief, depression. I felt totally violated and devalued as 

a person. I had just been used as a laboratory rat in a carefully 

devised scheme where my employer would benefit greatly by trying 

to prove that carpal tunnel syndrome was a genetic disorder rather 

than a work environment-related condition. They could relieve 

themselves of all the financial obligations to their employees who 

suffer work-related injuries within the workplace. 

This was a very difficult concept for me to accept. My attitude 

toward the company became very negative. My moods of anger and 

depression resulting from the constant stress and uncertainty of 

my job situation affected my family, as well. I became despondent 

to the needs and the concerns of my wife and daughters as I tried 

to work through this seemingly uncomfortable and endless situation. 

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I was also fearful of the fact that no one could tell me where all 

the vials of my blood had been dispersed. What information was 

being learned about me, who was going to receive this information, 

and how it could be used to discriminate against not only myself 

but my family when they go out into the workplace? The constant 

worries, where would I go to find another job at this point in my 

life, and would I be able to obtain insurance for my family, seemed 

to me insurmountable. It was a very trying time in my life. 

One of the most heart-wrenching moments occurred when my little seven-year-old daughter Kristyn began crying one night because 

she was scared her dad was going to lose his job and her little 

world would be turned upside down. How do you explain to a young 

child that you could lose your job not because of what you have 

done but because of what your employer has done to you? 

I feel that this new science of genetic information is a great asset 

when left in responsible hands. But it can also be very devastating 

when put into the hands of the wrong people. 

I am fearful of the power that corporations, including insurance 

companies, would have if they were allowed to subject their employees and policyholders to genetic testing and then make decisions based on what is learned in those tests. 

We have laws to protect us from people wiretapping our phone, 

stealing our mail and defrauding our bank account. How can we 

allow employers to steal the blood of their employees and use it to 

discriminate through the predispositions discovered through the information learned from the genetic studies? 

It is my personal belief that individuals are hired on the basis 

of their abilities and their capability to do the job, not on the basis 

of their genetic makeup or their genetic history. 

It has now been 5 years since I had the opportunity to testify before the Health, Education, Labor and Pension Committee in regard to genetic testing. To this day, I have never received confirmation of what happened with the five vials of blood taken from me. 

I have been denied health insurance since I am on a railroad occupational disability, and there are still no laws protecting individuals from an employer demanding an employee be genetically tested. 

There have been many important events that have occurred in 

this time period, most notably 9/11 and the aftermath which followed. As important an event that this has been in our Nation’s 

history, I still strongly believe that the need for the passage of legislation that protects all Americans from genetic discrimination is 

as important today as it was 5 years ago. 

Mr. Chairman, through the tactics of deception, intimidation, 

lying and stealing, the company to which I had given 26 years of 

my life took from me something they can never give back, and that 

is the very essence of my being, my genetic makeup. 

In conclusion, if employers, insurance companies, and the like 

are able to have this type of power and control over their employees and clients, then who will be able to have a job or affordable 

insurance, if any insurance at all? 

I thank the Committee for the opportunity to testify and I urge 

enactment on legislation to protect American citizens from genetic 

discrimination. Thank you. 

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[The prepared statement of Mr. Escher follows:] 

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Chairman STARK. Thank you very much. 

Dr. Corwin . . . 

STATEMENT OF WILLIAM CORWIN, MEDICAL DIRECTOR, CLINICAL POLICY, HARVARD PILGRIM CARE, ON BEHALF OF 

AMERICA’S HEALTH INSURANCE PLANS 

Dr. CORWIN. Thank you, Mr. Chairman, Mr. Camp, Members of 

the Subcommittee. My name is Dr. William Corwin. I’m a physician, a medical director for clinical policy at Harvard Pilgrim 

Health Care, which is a not-for-profit health plan that provides insurance plan options to more than a million members in Massachusetts, New Hampshire and Maine. 

Harvard Pilgrim has been named the number one health plan in 

America for three consecutive years, according to a joint ranking by 

the U.S. News and World Report and the National Committee for 

Quality Assurance. 

I appreciate this opportunity to testify on behalf of America’s 

Health Insurance Plans, which is a national association representing nearly 1,300 health insurance plans, providing coverage 

for more than 200 million Americans. 

Health insurance plans work on a daily basis to promote appropriate use of medical and genetic tests, to help clinicians and patients make informed health care decisions and improve health outcomes. We agree with the sponsors of H.R. 493 that health care 

consumers should not face discrimination on the basis of their genetic makeup and that genetic makeup should be protected from 

unauthorized disclosure. Our policies and programs reflect this belief. 

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We have submitted written testimony that focuses on three broad 

areas. First, examples of how health insurance plans are promoting 

the appropriate use of genetic tests to improve patient care. Second, opportunities for improving H.R. 493. Third, our support for 

strong protection with respect to nondiscrimination in the confidentiality of genetic information. 

In the next few minutes, I would like to provide some examples 

of how health insurance plans are promoting the use of genetic information to help enrollees receive the highest quality evidencebased care possible. I also will briefly comment on H.R. 493. 

Through early detection, disease management programs and 

other improvement initiatives, we are working to identify individuals who can benefit from early intervention and the evidence 

based treatments for specific illnesses and diseases. Genetic information including the results of genetic tests is just one more very 

sophisticated source of data that clinicians and health insurance 

plans are using to ensure that patients receive appropriate preventive care, coordination of services and very early treatment for 

their medical conditions. 

I would like to highlight two specific examples of how genetic 

tests are being used to improve patient care. 

In February of this year, in 2007, the Food and Drug Administration approved a new genetic test called MammaPrint, which indicates whether a woman with breast cancer is likely to have a relapse. This test allows physicians to tailor therapy for individual 

patients, as Dr. Collins mentioned, and administer chemotherapy 

to only those patients who would benefit. At the same time, the 

test allows physicians to identify patients who would not benefit 

from chemotherapy and should not be subjected to risky and costly 

treatment. 

Another test, the Cytochrome P450 enzyme, is genetically coded. 

The identification of the presence or absence of this genomic marker enables a physician to evaluate a patient’s ability to process 

many different medications, adjust the doses intelligently, and 

avoid any of the potential adverse drug reactions in patients who 

either metabolize a drug too quickly or do not metabolize this drug 

at all. This test also is used to determine how children with certain 

forms of leukemia will respond to various doses of chemotherapy. 

Health insurance plans may request that this test be performed 

before authorizing a course of therapy or treatment to ensure the 

appropriate evidence-based care is being provided to meet the patient’s individual needs. 

Health insurance plans are also using genetic test results to promote preventive screening and disease management programs. 

These programs can help to improve health care for individuals 

who have tested positive for a genetic disease or who have a family 

history of a specific disease or condition. For example, individuals 

who have a gene for the familial form of colorectal cancer, as we 

heard described earlier, can receive coverage for more frequent preventive screenings. 

As scientists acquire a greater understanding of the role that 

genes play in disease and develop more targeted therapies, more 

targeted treatments and possibly even cures, preventive screening 

and disease management programs can be tailored to improve the 

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outcomes for these individuals. These therapies will become even 

more important in the future. 

We appreciate the interest many Subcommittee Members have 

shown in passing additional legislation addressing use and disclosure of genetic information. As you do so, we urge you to fully 

evaluate the implications of any additional requirements or prohibitions and ensure that new legislation does not unnecessarily restrict the use of information needed to promote appropriate health 

care decisionmaking. 

Working with AHIP, our industry association, we have reviewed 

H.R. 493 and identified several areas where we believe changes are 

needed to ensure that genetic information is available to health 

plans so we can continue to ensure appropriate coverage decisions 

and design targeted disease management programs to improve the 

quality of patient care. 

We do not oppose the bill and we agree with its intent. However, 

once enacted, there will be a variety of interpretations about the 

bill and how its requirements would apply in various settings. To 

avoid any confusion, the Health Insurance Plans would like to encourage the Subcommittee Members to ensure that the statutory 

language clearly reflects your intent for enacting this legislation. 

In conclusion, I want to emphasize that the Health Insurance 

Plans are strongly committed to ensuring that genetic information 

is used to help clinicians and patients make informed health care 

decisions, at the same time maintaining strong protections in the 

area of nondiscrimination and confidentiality. 

We appreciate the opportunity to testify, and I am open to questions. Thank you very much. 

[The prepared statement of Dr. Corwin follows:] 

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Chairman STARK. I want to thank all of you. My assumption is 

that the first three witnesses are in support of the bill and that Dr. 

Corwin is in support of the bill with conditions. I guess I would just 

like to figure out whether we’re in a general hearing nit picking or 

whether there are some major issues here. 

You guys are hooked up with Harvard, right? 

Dr. CORWIN. In name only. 

Chairman STARK. In name only? All right. 

Dr. CORWIN. Separate entity. It used to be part of the Harvard 

Community Health Plan way back. 

Chairman STARK. Okay. I don’t suppose there are any laws 

now—and I don’t know what the Massachusetts health bit—if I 

come in and you tell me that I have to have a colonoscopy and I 

say I don’t want to, you are not going to kick me out of the plan, 

are you? 

Dr. CORWIN. No, sir, we are not. It’s your choice. 

Chairman STARK. I mean, you are not going to send me to jail. 

Dr. CORWIN. No, sir. 

Chairman STARK. So, wouldn’t the same thing prevail if you 

told somebody, well, we think the indication is you have this condition or that condition, and I think in your testimony you said 

maybe you want to get an extra 30 days of treatment that could 

be identified as necessary with genetic testing. Was that yours? 

Dr. CORWIN. That is ours. 

Chairman STARK. Okay, that was your testimony. 

Dr. CORWIN. Yes, sir. 

Chairman STARK. Wouldn’t medical ethics say to you if I said, 

no, you think I probably would need the 30 days, but I ain’t going 

to take the test, wouldn’t medical ethics say well you ought to go 

ahead and give me the extra 30 days of treatment just in an abundance of caution? 

Dr. CORWIN. What our concern is, sir—this is a very good question, first of all. 

What our concern is, that when Dr. Collins’s future research becomes even more sophisticated, that we will soon be at a point in 

time where what is called pharmacological genetic signatures, or 

pharmacogenetics, will allow us to take a look at a panel of 

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chemotherapeutic agent is most likely to be able to help you in 

your treatment. 

It is our understanding and our concern that, in the wording of 

this bill that, as it stands at this point in time, that requesting or 

requiring someone to undergo that kind of testing as a health plan, 

to help guide their therapy to the most appropriate level, to ensure 

they get the most appropriate medication and not the most—best 

guess, which is not good medicine at this point in time and not evidence based, that we wouldn’t be able to do that. 

Chairman STARK. Okay, now, I think you hit on the operative 

word. I don’t know as there is anything in the bill, although I must 

say I would have to read it more carefully than I have, that would 

stop you from requesting it. But as to requiring it, I don’t know 

that there are any tests that you can require anyway, and I don’t 

know that, under law. I guess you could say you withhold certain 

treatments. 

I don’t know, I certainly wouldn’t want to see anything in this 

bill that would interfere with the delivery of the best medical care 

that your physicians could determine for your beneficiaries. I do 

see the exciting prospects of being able to be much more accurate 

in determining what kinds of pharmaceuticals should be used. We 

get in a big fight with Amgen about EPO. How much EPO should 

you give somebody in dialysis. I think I know, but I think it is determined more by money than it is by medical science. 

But be that as it may, I don’t want to get in the way. If there 

are specific issues, then I think you are going to have to, and I 

hope you will, sit down with our legislative counsel and your lawyers and see if we can come to some kind of an agreement that—— 

Dr. CORWIN. We are more than willing to work with you on this 

and we would love to do that. 

Chairman STARK. Because if we could work those sorts of things 

out, you guys would favor the bill. 

Dr. CORWIN. Yes, sir. 

Chairman STARK. Well, I will assure you that we will do our 

best to see that we don’t get in the way of physicians practicing the 

best medicine they know how. Now I can’t assure you that I am 

going to be able to put something in this bill that is going to pound 

sense into the heads of your patients, who may often choose not to 

listen—— 

Dr. CORWIN. My patients have been refusing to listen to me for 

a long time about a lot of things. 

Chairman STARK. I can lead that horse to water, okay, but that 

is about as far as I think we could get. 

So, I appreciate you raising those issues and I hope that, with 

your forbearance and cooperation, we could take care of those. As 

long as you see them as technical corrections. 

Dr. CORWIN. We feel they are technical corrections, yes, sir. 

Chairman STARK. I think that that we could handle. 

I want to especially thank Mr. Escher for raising concerns. I 

know it is difficult, when we talk here in generalities of people not 

wanting to release private information. It is even more difficult, 

often, to come in a public forum such as this and talk about your 

family and your personal involvement. But it is important, and so 

you are to be thanked for the inconvenience and however you feel 

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about our invading your personal privacy. But by being willing to 

step forth, you do us all a service and I want to thank you, in particular. 

Ms. Terry and Ms. Pollitz, I thank you for your help and support 

in this. We may have as we try and move this along—we have to 

report this by the 23rd?—we are on somewhat of a time schedule 

to see if we can report this out by the end of the month. So, we 

may want to call on all of you, if we can, over the next week or 

two to see whether we can wrap this up into a form that will have 

broad support. 

With that, I would like to recognize Mr. Camp for any inquiries 

he would like to make. 

Mr. CAMP. Thank you, Mr. Chairman. Again, thank you for 

holding this hearing. 

I want to thank you all for coming and taking the time to do 

that, especially Mr. Escher. Again, it is difficult to come and talk 

about personal issues. Hopefully, we won’t make you come in another 5 years, we will have resolved this issue. Ms. Terry, after 12 

years of effort, I hope we can. 

Dr. Corwin, I did want to just point out, there is a limitation on 

genetic testing in the bill, but it does say an insurance plan shall 

not request or require an individual or a family member of such individual to undergo a genetic test. So, it looks as though they can’t 

even request it. 

But then you go further down in the rules of construction and it 

seems to go the other way and says in the rules of construction 

that a health care professional who is employed and is providing 

health care services may notify an individual of the availability of 

genetic testing. So, there is a bit of a construction problem here 

that I think—I would think the rule of limitation overplays the rule 

of construction, so I don’t know if you want to comment on that, 

Ms. Pollitz? 

Ms. POLLITZ. Actually, if you continue on, the bill also protects 

health care professionals to request that they undergo, they just 

also can’t require as well. 

Mr. CAMP. Under the rules of construction. 

Ms. POLLITZ. Yeah. 

Mr. CAMP. Yes. Oh, no, I understand that and I mentioned that. 

Dr. Corwin, there is a limitation on insurance companies requesting, but in the rules of construction they say that physicians 

and professionals employed by an insurance company can notify individuals of the desire for a genetic test. 

What does that do in terms of your understanding? 

Dr. CORWIN. I am not a lawyer, so I would have to defer to my 

colleagues who have helped me try to understand this bill as best 

as possible. My understanding is that the health insurance plans 

would be prohibited from requesting and then requiring. 

Again, we do not employ physicians. Physicians are merely the 

end product of the delivery of health care. The—— 

Mr. CAMP. I am sorry. 

Dr. CORWIN [continuing]. The testing that we would be requesting. 

So, again, we get into the situation within our plan where we are 

trying to help improve the long-term, evidence-based process, dejbell on PRODPC61 with HEARING

85 

crease the variation in the practice of medicine. To your point earlier in terms of getting to that wonderful state where we have electronic medical records that do all the reminding for us, it is a great 

future place to be. 

But at this point in time, health plans have a very significant 

component in terms of filling gaps in care in the busy office practice in terms of reminders, both to patients who don’t want to have 

their colonoscopies done for obvious reasons, not a comfortable procedure to undergo. If they have to be done more frequently, it is 

less comfortable to have to undergo those procedures. 

In the same token, we like to be able to remind physicians that 

they have panels of patients who require these tests. Being able to 

encourage that and use this information in that way that if it is 

available in a generic way at some point in the future, to the 

Chairman’s comment, at some point in time there will be tests that 

will be available that will help us with this. 

Mr. CAMP. Yes, I would be happy to yield. 

Chairman STARK. As another nonlawyer, what I am hearing 

here, some from my staff and some from—that there are some legal 

differences and niceties between saying, if you recommend to me to 

take the test, that is okay. But if you request it and I don’t, then 

I might be in danger of being kicked out of the club. That I don’t 

want. 

So, I mean, those are terms of legal differences that I think we 

have to work out, because I am happy to have you recommend to 

me, even be a pest and remind me. But I don’t want to lose my 

health insurance. 

Dr. CORWIN. We don’t disagree with that interpretation. 

Chairman STARK. Those are—okay. 

Mr. CAMP. I agree with the discussion, the way it is going. I 

mean, obviously, on the whole concept of the bill, I think we have 

general agreement on. We just want to make sure that as we look 

to the future—and I thought Dr. Collins was pretty eloquent in his 

statement that we do need to personalize health treatment. That 

that can be a real help to the future in terms of addressing health 

care needs and costs and other things, and obviously making sure 

people get the care they need. 

But the word request is okay with doctors, it is notify with insurance providers, it is request or require up in other language. I 

think we just need to get together and find out what the commonality should be so that we don’t have an unintended consequence later when maybe this becomes a very hopeful tool in 

helping people. 

But the main purpose of the bill is to protect people from the 

misuse of this information, which I think is the real concern initially. We don’t have the technology to really use it as a health care 

preventive measure right now as much as we would like. But as 

Dr. Collins also testified, that is coming, and we don’t know how 

soon that will come. 

So, I appreciate all of your testimony. Thank you very much. 

Thank you, Mr. Chairman. 

Chairman STARK. Thank you. 

I just had one other question of Dr. Corwin, and maybe Karen 

could answer. In Dr. Collins’s testimony, I asked him about how 

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86 

much it cost, and he indicated that there are services out there 

that would be glad to accommodate me and also recommend 

Herbalife and a lot of other good things for me to take if they found 

something that didn’t seem quite right. 

Are we going to be opportuned by, quote, services who want to 

get out and sell this kind of program to the public and then come 

and ask us to have Medicare pay for it? Are there any of those 

services that are valid? Or do we have to wait a while until they 

are more developed? Can you comment on that? 

Dr. CORWIN. I would be glad to, and it is an excellent question. 

I don’t know the future answer to that, but currently there are 

some, for lack of a better term, fly by-night services that do offer 

those things. 

There are many very good companies who are offering genetic 

tests at this point in time. But as Dr. Collins indicated, these are 

companies that have patented certain components of the human genome which have raised the price. To answer your question about 

the pricing, they can be anywhere from, depending on how good 

your contracting people are, from a couple hundred dollars up to 

$5,000. Many of these companies hold the patent on specific tests 

which limit the access to that one company, so there is a lack of 

competition and that is an issue for us on the payer side in keeping 

the overall cost of medical care down. So, I think that is a future 

concern. 

We will have to sort through the latter part of your question, 

which is how do we decide if these programs are really very good 

and whether they really do offer anything. It would be our hope 

that we would be able to use the evidence of science to help us determine what tests are appropriate, when they are appropriate, 

how they should be best utilized and hopefully keep them in the 

realm of the primary care practices of our specialists and our primary care physicians and away from people who may take advantage of other people’s concerns, which is obviously something that 

does happen, unfortunately. 

Chairman STARK. Is it in the public interest to patent this 

stuff? 

Dr. CORWIN. I think that is a politically hotbed question. I 

would say with all due respect to our private enterprise system 

that as long as it is competitive, we may be able to keep those 

prices down. Right at the moment, it does not feel like a competitive environment. 

Mr. CAMP. Mr. Chairman, we do have—and this is fairly off the 

subject, but we do have patenting of tax advice, which we have 

held hearings on in the Committee on, so we have got some real 

extensions of patent law that are occurring out there. 

Chairman STARK. Do you suppose they could patent politicians? 

Mr. CAMP. I think that would be a very scary thought. 

Chairman STARK. I want to thank all of you again, and we will 

conclude the hearing. Thanks very much. 

[Whereupon, at 3:37 p.m., the hearing was adjourned.] 

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