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TECHNOLOGICAL ADVANCES IN GENETICS TESTING: IMPUCATIONS FOR THE FUTURE Y4.SCI 2:104/68 Technological Advances in Genetics... r\RING BEFORE THE SUBCOMMITTEE ON TECHNOLOGY OF THE COMMITTEE ON SCIENCE HOUSE OF REPRESENTATIVES U.S. ONE HUNDRED FOURTH CONGRESS SECOND SESSION SEPTEMBER 17, 1996 [No. 68] Printed for the use of the Committee on Science WH f f FEB 9 13S7 1 U.S. GOVERNMENT PRINTING OFFICE 35-300CC WASHINGTON : 1996 ForsalebytheU.S.GovernmentPrintingOffice SuperintendentofDocuments,CongressionalSalesOffice,Washington,DC 20402 ISBN 0-16-053777-0 ' TECHNOLOGICAL ADVANCES IN GENETICS TESTING: IMPUCATIONS FOR THE FUTURE Y4.SCI 2:104/68 Technological Advances in Genetics... XXX.ARING BEFORE THE SUBCOMMITTEE ON TECHNOLOGY OF THE COMMITTEE ON SCIENCE HOUSE OP REPRESENTATIVES U.S. ONE HUNDRED FOURTH CONGRESS SECOND SESSION SEPTEMBER 17. 1996 [No. 68] Printed for the use of the Committee on Science ri^r^iiil^Vff-OmMIHJ-O^Vf urI yyui>^*..v- FE3 1 9 13S7 i.^^ . 5r*. U.S. GOVERNMENT PRINTING OFFICE 3&-300CC WASHINGTON 1996 : ForsalebytheU.S.GovernmentPrintingOffice SuperintendentofDocuments,CongressionalSalesOffice,Washington,DC 20402 ISBN 0-16-053777-0 COMMITTEE ON SCIENCE ROBERT S. WALKER, Pennsylvania, Chairman F. JAMES SENSENBRENNER, Jr., GEORGE E. BROWN, Jr., California RMM* Wisconsin HAROLD L. VOLKMER, Missouri SHERWOOD L. BOEHLERT, New York RALPH M. HALL, Texas HARRIS W. FAWELL, Illinois BART GORDON, Tennessee CONSTANCE A. MORELLA, Maryland JAMES A. TRAFICANT, Jr., Ohio CURT WELDON, Pennsylvania JOHN S. TANNER, Tennessee DANA ROHRABACHER, California TIM ROEMER, Indiana STEVEN H. SCHIFF, New Mexico ROBERT E. (Bud) CRAMER, Jr., Alabama JOE BARTON, Texas JAMES A. BARCIA, Michigan KEN CALVERT, CaUfomia PAUL McHALE, Pennsylvania BILL BAKER, California JANE HARMAN, CaUfomia ROSCOE G. BARTLETT, Maryland EDDIE BERNICE JOHNSON, Texas VERNON J. EHLERS, Michigan** DAVID MINGE, Minnesota ZACH WAMP, Tennessee JOHN W. OLVER, Massachusetts DAVE WELDON, Florida ALCEE L. HASTINGS, Florida LINDSEY 0. GRAHAM, South CaroUna LYNN N. RIVERS, Michigan MATT SALMON, Arizona KAREN McCarthy, Missouri THOMAS M. DAVIS, Virginia MIKE WARD, Kentucky STEVE STOCKMAN, Texas ZOE LOFGREN, California GIL GUTKNECHT, Minnesota LLOYD DOGGETT, Texas ANDREA H. SEASTRAND, California MICHAEL F. DOYLE, Pennsylvania TODD TUHRT, Kansas SHEILAJACKSON LEE, Texas STEVE LARGENT, Oklahoma WILLIAM P. LUTHER, Minnesota VAN HILLEARY, Tennessee BARBARA CUBIN, Wyoming MARK ADAM FOLEY, Florida SUE MYRICK, North Carolina David D. Clement, ChiefofStaffand ChiefCounsel Barry Beringer, General Counsel TiSH Schwartz, ChiefClerk andAdministrator Robert E. Palmer, Democratic StaffDirector Subcommittee on Technology CONSTANCE A. MORELLA, Maryland, Chairman SUE MYRICK, North Carolina JOHN S. TANNER, Tennessee KEN CALVERT, California PAUL McHALE, Pennsylvania GIL GUTKNECHT, Minnesota EDDIE BERNICE JOHNSON, Texas ANDREA H. SEASTRAND, CaUfomia KAREN McCarthy, Missouri TODD TIAHRT, Kansas ZOE LOFGREN, CaUfomia BARBARA CUBIN, Wyoming RankingMinorityMember ••ViceChairman (II) CONTENTS WITNESSES Page September 17, 1996: Honorable Cliff Stearns, a Representative in Congress from the State ofFlorida 3 Honorable Nancy L. Johnson, a Representative in Congress from the State ofConnecticut 6 Honorable Louise Mcintosh Slaughter, a Representative in Congress from the State ofNewYork 7 Francis S. Collins, M.D., Director, National Center for Human Genome ReseKarch, National Institutes ofHealth, Bethesda, Mainland 17 Mary Pendergast, Deputy Commissioner, Senior Advisor to the Com- missioner, Food and DrugAdministration, Rockville, Maryland 33 Carol Krause, Cancer Survivor, Kensington, Maryland 63 Karen H. Rothenberg, Maijorie Cook Professor of Law, Director, Law and Health Care Program, University of Maryland School of Law, Baltimore, Maryland 75 Wayne W. Grody, M.D., UCLA School of Medicine, Member, NIH-DOE Task Force on Genetic Testing, Los Angeles, California 87 Alan Goldhammer, Director, Technical Affairs, Biotechnology Industry Organization, Washington, DC 96 Christine Brunswick, Vice President, Breast Cancer Coalition, Washing- ton, DC 114 Jeffrey Cossman, M.D., Professor and Chairman, Department of Pathol- ogy, Georgetown University Medical Center, Member of Federation of American Societies for Experimental Biology (FASEB), American Soci- etyfor Investigative Pathology (ASIP) 120 APPENDIX Additional Statements Submitted forthe Record by: TheAmerican SocietyofClinical Pathologists 141 The College ofAmerican Pathologists 144 Bruce C. Vladeck, Administrator, Health Care FinancingAdministra- tion 182 The March ofDimes Birth Defects Foundation 186 (III) TECHNOLOGICAL ADVANCES IN GENETICS TESTING: IMPLICATIONS FOR THE FUTURE TUESDAY, SEPTEMBER 17, 1996 U.S. House of Representatives, Committee on Science, Subcommittee on Technology, Washington, DC. The Subcommittee met at 1:35 p.m. in room 2318 ofthe Raybum House Office Building, the Honorable Constance Morella, Chair- woman ofthe Subcommittee, presiding. Mrs. Morella. I am going to call the meeting ofthe Technology Subcommittee to order. There will be members that will be joining us, but because we have what I consider to be a very important meeting, and three panels, I do want to commence immediately. Today the Technology Subcommittee will be exploring the technological advances wmch have led to explosive medical break- throughs in the burgeoning field ofgenetics testing. It has been said that every one of us has a unique story to tell. It is a story about our lives and who we are, our hopes, our dreams, and how we have spent our living years here on Earth, That, however, is not the only story that we have to tell. Even before we all breathe our first breath, there is another story which has already developed within each ofus. It is a story about who we are and how we have come to be. It began many generations ago, and involves our siblings, our par- ents, our grandparents, and our great-grandparents. It is a story about genetic makeup. Yet for many years, the story remained untold. And now with the advent of new medical technologies and genetic testing, this story can finally be told. A decade ago, scanning genes for disease-linked mutations seemed unimaginable. Today, thanks in large part to the Human Genome Project, a joint, federally funded NIH/DOE effort initiated in 1990, this not only a possibility; it is fast becoming reality. In the past five years alone, over 50 new genetic tests have been identifiecl to make detection of genetic conditions earlier, simpler, and more precise. It is now possible to find the genetic mutations associated with such malignancies as breast cancer, colon cancer, Huntington's Disease, heart disease, and Alzheimer's Disease, to namejust a few. To put the importance of these discoveries into perspective, sta- tistics show that in the United States, a woman's chance of devel- oping breast cancer between birth and age 80, is one in eight. An estimated 184,000 new cases of female breast cancer are expected (1) to be diagnosed this year, and approximately 44,000 women will ultimately die ofthis disease. Being able to learn ofher predisposition to breast cancer can em- power a woman to make a better-educated and informed decision if she is considering elective, preventative measures. This information may truly be the difference between life and death. While these genetic testing advances hold great promise for open- ing up unknown health frontiers and determining an individual's predisposition to certain diseases, they also pose important questions regarding the quality assurance of the testing procedures, its accuracy standards, and the future implications of its use. These are the issues which this Subcommittee will be exploring in this hearing. Specifically, we need to address the following questions: •How can we ensure the safety, effectiveness, and correct interpre- tation ofthe tests? •How accurate is the testing in identifying mutations? •How reliable is a positive test as a predictor ofdisease? •How can we ensure the quality ofthe laboratories performing the tests? •Should genetic testing be limited to research protocols at this time? Today we have three very distinguished panels of witnesses to help us explore these questions. The first panel represents a num- ber of my colleagues in the House who have taken leadership roles on this issue. They have either introduced or made significant con- tributions to Congressional consideration of genetic testing and its coroUfiry privacy, confidentiality, and discrimination consider- ations. We will hear from Congressm£in Cliff Steeims of Florida, Con- Eresswoman Nancy Johnson of Connecticut, and Congresswoman ouise Slaughter ofNew York. Testimony has also been submitted by Congresswoman Nita Lowey and Congressman Joe Kennedy, and Jim McDermott, who had all requested to appear at this hearing, but their schedules could not permit their attendance. Their testimony will be submitted for the record. The second panel will detail the Administration's efforts in genetic testing. We are pleased to have Dr. Francis Collins, the head of the Human Genome Project and the leader of our federal efforts in this field. And joining Dr. Collins will be Ms. Mary Pendergast, Deputy Commissioner and Senior Advisor to the Commissioner for the Food and Drug Administration, who will share with us some of the Government's responsibilities in the eventual regulation of genetic tests, products, and devices. Our third panel is comprised of a mix of academicians, consum- ers, industry representatives, and experts who will address the issues ofaccuracy standards, quality ofperformance tests, laboratory accreditation issues, and the impact of genetic testing. We will re- ceive testimony from Ms. Carol Krause, who is a colon and breast cancer survivor who will share with us her personal story of the devastation ofvarious cancers on her family and the important role of genetic testing in her life; Karen Rothenberg, Director of the Law and Health Care Program at the University of Mcuyland, a well-known and respected expert in genetic testing legislation; Dr. Wayne Grody, of the UCLA School of Medicine, and a member of the NIH/DOE Task Force on Genetic Testing, who can share with us some ofthe preliminary Task Force findings on the issues before us; Dr. Alan Goldhammer, Director ofTechnical Affairs for the Bio- technology Industry Organization, on the views of the industry regarding genetic testing; Ms. Christine Brunswick, Vice President of the National Breast Cancer Coalition, who will share the views of the Coalition with respect to offering these tests outside of the research setting; and. Dr. Jeffrey Cossman, Professor and Chairman of the Department of Pathology at Georgetown University Medical Center, who can address laboratory certification and self-accreditation procedures. This is the first House hearing on this very important issue of genetic testing, and I look forward to a very productive and edu- cational hearing. I want to welcome all of you here today. And I will allow any other Members, such as my Ranking Member, when he arrives, to be able to make any introductory statements that they would like. But right now, I would like to turn to our first panel. I want to thank very much, my colleagues for appearing here today. And for all of you that are here, you know we are not voting until after 5:00. Many Members of Congress arejust returning now from their Districts, and have not even arrived yet, so I very much appreciate the fact that the three of them made it a point to arrange their schedules so they could be here. So I will turn first to Congressman Cliff Steams. Mr. Steams? STATEMENT OF THE HONORABLE CLIFFORD B. "CLIFF** STEARNS, A REPRESENTATIVE IN CONGRESS FROM THE STATE OF FLORIDA Mr. Stearns. Good afternoon. Thank you. Madam Chairwoman, for holding this important hearing and again for taking the lead on this in the House. As you know, on the Senate side they have had a hearing; but I want to comphment you for taking the lead here in the House. Recently I had the privilege oftouring the Human Genome Cen- ter Project at the National Institutes ofHealth, and ofcourse I cannot say enough about the research being conducted there. Its Director, Dr. Francis Collins, as you mentioned earlier, will be testifying today. As Dr. Collins pointed out during our tour, 'This project is coming in under time and under budget." I guess not many programs with the Federal Government can say that, so I think that is an important claim. The question is: Why is genetic testing such an important issue and why should the American people be concerned about it? Because each and every one of us could be affected, once the mapping and sequencing phase of this research has been com- pleted, and that is why I introduced legislation, H.R. 2690, to pre- vent discrimination based upon a person's genetic profile. In my bill, the "Genetic Privacy and Nondiscrimination Act," there is a similar companion bill that was offered in the Senate by Senator Connie Mack and Senator Mark Hatfield. Our bills will establish guidelines concerning the disclosure and use of the genetic information, and in so doing will protect the health and privacy of the American people. Genetic information must not be misused to deny access to health insurance. In conjunction with that, I am particulariy pleased that when we had the markup in the Commerce Committee that we were able to include the words "genetic information" in the definition of health status, which was adopted by the Committee on Commerce and was included in the final health care reform package. And the staff on the Commerce Committee and I worked on that. H.R. 2690, that I drafted, will not only safeguard health privacy and help preserve insurance coverage, it will also remove potential barriers to genetic testing itself. Eliminating the concerns about reprisals by insurance compa- nies, will facilitate more effective use of genetic tests as they are developed, and therefore promote cures and treatments. This will sustain the global leadership ofthe biomedical research industry in the United States, However, if you can lose your health insurance because your genes show that some day you might require that same insurance, clinical trials will become impossible to conduct and new treatments and cures may not be developed. Consequently, it is important to have this protection which will ultimately lead to improved health care for all ofus. As medicEil science discovers the secrets that our genes carry, the potential misuse ofthat information, whether through insurance or some other venue, becomes an ever-increasing possibihty. Passage of this much needed health reform assures that future discrimination based upon pre-existing conditions, including "genetic profile," will not be allowed. It is imperative that the strongest possible statutory protections exist against applying this information towards genetic discrimination. In the future, these discoveries of genetic information could lead to employment discrimination. Should an insurance company be able to deny children medical coverage because their mother died of an inherited heart defect that her children may or may not carry? This is the dilemma facing a California father who cannot get family medical coverage under his group plan today as a result of his wife's death. Congress must act to rectify such situations. Discoveries of genetic information could be the civil rights battle of the next cen- tury. In conclusion, as researchers find the genetic mutations that cause specific diseases, or that appear to cause a genetic predisposition to specific diseases, a host of ethical, legal, and social complications arise that will take our greatest efforts to resolve. We need to begin making some very difficult policy decisions now, today, before those decisions are made by self-interested par- ties. I will continue to press for passage ofmy bill. Thank you. Madam Chairwoman, for allowing me to testify. [A section-by-section summary ofH.R. 2690 follows:]