THE HUMAN GENOME PROJECT: HOW PRIVATE SECTOR DEVELOPMENTS AFFECT THE GOVERN- MENT PROGRAM The Hiian Genoiie Project: How Private Sector V Developjients Affect the Governiient Prograu, H(No.EARING BEFORE THE SUBCOMMITTEE ON ENERGY AND ENVIRONMENT • OF THE COMMITTEE ON SCIENCE HOUSE OF REPRESENTATIVES U.S. ONE HUNDRED FIFTH CONGRESS SECOND SESSION JUNE 17, 1998 [No. 66] Printed for the use of the Committee on Science APR 6 1999 THE HUMAN GENOME PROJECT: HOW PRIVATE SECTOR DEVELOPMENTS AFTECT THE GOVERN- MENT PROGRAM HEARING BEFORE THE SUBCOMMITTEE ON ENERGY AND ENVIRONMENT OF THE COMMITTEE ON SCIENCE HOUSE OF REPRESENTATIVES U.S. ONE HUNDRED FIFTH CONGRESS SECOND SESSION JUNE 17, 1998 [No. 66] Printed for the use of the Committee on Science U.S. GOVERNMENT PRINTING OFFICE 51-217CC WASHINGTON 1998 : ForsalebytheU.S.GovernmentPrintingOffice SuperintendentofDocuments,CongressionalSalesOffice,Washington,DC 20402 ISBN 0-16-057661-X COMMITTEE ON SCIENCE F. JAMES SENSENBRENNER. Jr., Wisconsin, Chairman SHERWOOD L. BOEHLERT, New York GEORGE E. BROWN, Jr., California RMM* HARRIS W. FAWELL, Illinois RALPH M. HALL, Texas CONSTANCE A. MORELLA, Maryland BART GORDON, Tennessee DCUARNTAWREOLHDROANB,ACPHeEnnRs,ylCvaalniifaornia JTIAMMERSOEA.METRR,AFIInCdAiaNnTa, Jr., Ohio STEVEN SCHIFF, New Mexico ROBERT E. "BUD" CRAMER, Jr., Alabama JOE BARTON, Texas JAMES A. BARCIA, Michigan KEN CALVERT, California PAUL MCHALE, Pennsylvania ROSCOE G. BARTLETT, Maryland EDDIE BERNICE JOHNSON, Texas VERNON J. EHLERS, Michigan ALCEE L. HASTINGS, Florida DAVE WELDON, Florida LYNN N. RIVERS, Michigan MATT SALMON, Arizona ZOE LOFGREN, California THOMAS M. DAVIS, Virginia LLOYD DOGGETT, Texas GIL GUTKNECHT, Minnesota MICHAEL F. DOYLE, Pennsylvania MARK FOLEY, Florida SHEILA JACKSON LEE, Texas THOMAS W. EWING, Illinois BILL LUTHER, Minnesota CHARLES W. "CHIP' PICKERING, WALTER H. CAPPS, California Mississippi DEBBIE STABENOW, Michigan CHRIS CANNON, Utah BOB ETHERIDGE, North Carolina KEVIN BRADY, Texas NICK LAMPSON, Texas MERRILL COOK, Utah DARLENE HOOLEY, Oregon PHIL ENGLISH, Pennsylvania GEORGE R. NETHERCUTT, JR., Washington TOM A. COBURN, Oklahoma PETE SESSIONS. Texas Todd R. Schultz, ChiefofStaff Barry C. Beringer, ChiefCounsel Patricia S. Schwartz, ChiefClerk/Administrator Vivian A. Tessieri, Legislative Clerk Robert E. Palmer, Democratic StaffDirector Subcommittee on Energy and Environment KEN CALVERT, California, Chairman HARRIS W. FAWELL, Illinois TIM ROEMER, Indiana CURT WELDON, Pennsylvania PAUL McHALE, Pennsylvania DANA ROHRABACHER, California MICHAEL F. DOYLE, Pennsylvania STEVEN H. SCHIFF, New Mexico DARLENE HOOLEY, Oregon VERNON J. EHLERS, Michigan RALPH M. HALL, Texas MATT SALMON, Arizona EDDIE BERNICE JOHNSON, Texas MARK ADAM FOLEY, Florida ZOE LOFGREN, California PHIL ENGLISH, Pennsylvania ALCEE L. HASTINGS, Florida TOM A. COBURN, Oklahoma *RankingMinorityMember **ViceChairman (II) CONTENTS June 17, 1998—The Human Genome Project: How Private Sector De- Page velopmentsAffect the GovernmentProgram Opening Statement by Representative Ken Calvert (CA-43), Chairman, Sub- committee on Energy and Environment, Committee on Science, U.S. House ofRepresentatives 1 Opening Statement by Representative Tim Roemer (IN-3), Ranking Minority Member, Subcommittee on Energy and Environment, Committee on Science, U.S. House ofRepresentatives 2 Panel: Dr. Aristides A. Patrinos, Associate Director of Energy Research for Biological and Environmental Research, U.S. Department of En- ergy, Washington, DC: Oral Testimony 5 Prepared Testimony 8 Biography 14 Dr. Francis S. Collins, Director, National Human Genome Research Institute, National Institutes of Health, U.S. Department of Health and Human Services, Bethesda, MD: Oral Testimony 15 Prepared Testimony 18 Biography 25 Dr. J. Craig Venter, President and Director, The Institute for Grenomic Research, Rockville, MD: Oral Testimony 26 Prepared Testimony 28 Biography 36 Financial Disclosure 37 DrC.hirDoasvciidencJe.R&GaDlaIsn,c.,PBrotehseildle,nWtA:and Chief Scientific Officer, Oral Testimony 42 Prepared Testimony 46 Biography 53 Financial Disclosure 54 Dr. Maynard V. Olson, Professor of Medical Genetics and Genetics, Department of Molecular Biotechnology, and Director, Genome Center, University ofWashington, Seattle,WA: Oral Testimony 55 Prepared Testimony 58 Biography 64 Financial Disclosure 71 Discussion Reasons for Federal Government To Complete Human Genome Sequenc- ing 72 RefocusingofFederal Human Genome Project 73 Federal Program's Use ofLatest Technologies 74 Federal Budget for the Human Genome Project 74 Dr. Olson's Criticisms ofPrivate-SectorVenture 75 Ethical, Legal and Social Concerns 77 Patentability ofHuman Genome 77 Difference Between Federal Human Genome Project and Private-Sector Venture 78 (III) Page Recapturing Private Investment 79 Tension Between Free Market and Information Dissemination 80 Concerns About Public Access to Information 81 Consequences ofIntellectual Property/Patient/Privacy Rights 83 Consequences of Private-Sector Venture for Federal Human Genome Project 84 Efficiency ofFederal Human Genome Project 84 Appendix 1: Answers to Post-Hearing Questions Submitted by Members of the Subcommittee on Energy and Environment Dr. Aristides A. Patrinos, Associate Director of Energy Research for Biological and Environmental Research, U.S. Department of En- ergy: Republican Member Questions: Scientific Justification for Completing Government-Funded Sequencing ofEntire Human Genome 87 Efficiencies ofDOE's Joint Genome Initiative vs. Three Different DOE Laboratory Programs 88 Democratic Member Questions: Difference Between the DOE-NIH and "Shotgun" Human DNA Se- quencingApproaches 89 Role ofDOE and NIH in Collaboration with Private-SectorVenture 89 Concerns of International Collaborators About Intellectual Property Rights and Patenting 90 Dr. Francis S. Collins, Director, National Human Genome Research Institute, National Institutes of Health, U.S. Department of Health and Human Services: Republican MemberQuestion: Scientific Justification for Completing Government-Funded Sequencing ofEntire Human Genome 92 Democratic Member Questions: Difference Between the DOE-NIH and "Shotgun" Human DNA Se- quencingApproaches 93 Role ofDOE and NIH in Collaboration with Private-SectorVenture 94 Concerns of International Collaborators About Intellectual Property Rights and Patenting 94 Federal Government's Cost to Completely Sequence the Human Ge- nome 96 Dr. J. Craig Venter, President and Director, The Institute for Genomic Research: Republican Member Questions: Will the Private Initiative Duplicate the Federal Human Genome Project? 97 ConcernAbout Release ofData to the Public 98 Recommendations for Restructuring the Federal Human Genome Project 98 Democratic MemberQuestions: Availability ofGenomic Information to the Scientific Community 99 Timeliness ofRelease ofand Compensation for Human DNA Sequence Data 99 Plans to Patent Genomic Sequences 100 Uniqueness ofExpressed Sequence Tags 100 Role ofDOE and NIH in Collaboration with Private-SectorVenture 101 Restrictions on Researchers' Ability to Obtain Human DNA Sequence Information 101 (IV) Page Relation of New Venture to the Federally-Funded Human Genome SequencingEffort 102 Dr. David J. Galas, President and Chief Scientific Officer, R&D Chiroscience Inc: Member Republican Questions: Practical Value of Federal Completion of Entire Human Genome Se- quencingProcess 103 Democratic MemberQuestions: Impacton CurrentEfforts 104 Importance ofGenomic Data That May BeWithheld 104 Reasonable Fees and Conditions to Private-Controlled Genetic Informa- tion 104 Rights ofIndividuals' Privacy and Compensation Issues 105 Dr. Maynard V. Olson, Professor of Medical Grenetics and Genetics, Department of Molecular Biotechnology, and Director, Genome Center, University ofWashington: Democratic Member Questions: Concerns AboutAbility toAccess Genomic Information 106 Impact on CurrentEfforts 107 Importance ofGenomic Data That May Be Withheld 107 Reasonable Fees and Conditions to Private-Controlled Genetic Informa- tion 107 Rights ofIndividuals' Privacy and Compensation Issues 108 Appendix 2: Additional Materials for the Record J. Craig Venter, et al., "Shotgun Sequencing ofthe Human Genome," Science 280, 1540 (June 5, 1998) 110 Nicholas Wade, "Scientist's Plan: Map All DNA Within 3 Years," The New York Times, May 10, 1998, p. Al 113 Bill Richards, "Perkin-Elmer Jumps Into Race to Decode Genes," The Wall StreetJournal, May 11, 1998, p. B6 115 Nicholas Wade, "Beyond Sequencing ofHuman DNA," The New York Times, May 12, 1998, p. C3 116 Justin Gillis and Rick Weiss, "Private Firm Aims to Beat Government in Gene Plan," The Washington Post, May 12, 1998, p. Al 118 Clive Cookson, "Genetic mapping triggers contest: Academics race private enterprise," TheNew York Times, May 12, 1998, p. C16 120 Nicholas Wade, "International CSrene Project Gets Lift: Wellcome Trust Dou- bles Commitment to Public-Sector Effort," The New York Times, May 12, 1998, p. A20 121 William A. Haseltine, "Gene-Mapping, Without Tax Money," The New York Times, May 21, 1998, p. A37 123 John Carey, "The Duo Jolting the Gene Business: Craig Venter and Perkin- Elmer target the human genome," Business Week, May 25, 1998, pp. 70- 71 124 Steven E. Koonin, "An Independent Perspective on the Human Genome Project,"Science 279, 36 (January 2, 1998) 126 HubmyatnheGHeunommaenPGreongormaem RMeapnoartg,emPeanrtt 1I,nfOovremravtiieown SaynsdtePmr,ogrOeasks,RiPdrgeepaNrae-d tional Laboratory for the U.S. Department of Energy, Office of Energy Research, Office ofBiological and Environmental Research, DOE/ER-0713 (Part 1), November 1997 128 Human Genome Program Report, Part 2, 1996 Research Abstracts, Prepared by the Human Genome Management Information System, Oak Ridge Na- tional Laboratory for the U.S. Department of Energy, Office of Energy Research, Office of Biological and Environmental Research, DOE/ER-0713 (Part 2), November 1997 240 (V) Page William A. Haseltine, "Discovering Genes for New Medicines," Scientific American 276,No. 3, March 1997, pp. 2-7 338 To Know Ourselves: The U.S. Department ofEnergy and the Human Genome Project, Prepared by the Lawrence Berkeley National Laboratory for the U.S. Department of Energy, Office of Energy Research, Office of Health and Environmental Research, July 1996 345 Francis Collins and David Galas, "A New Five-Year Plan for the U.S. Human Genome Program,"Science 262, 43 (1993) 380 DOE Human Genome Program Primer on Molecular Genetics, Prepared by the Human Genome Management Information System, Oak Ridge National Laboratory for the U.S. Department of Energy, Office ofEnergy Research, Office ofHealth and Environmental Research,June 1992 390 (VI) THE HUMAN GENOME PROJECT: HOW PRI- VATE SECTOR DEVELOPMENTS AFFECT THE GOVERNMENT PROGRAM WEDNESDAY, JUNE 17, 1998 House of Representatives, Committee on Science, Subcommittee on Energy and Environment, Washington, DC. The Subcommittee met, pursuant to notice, at 1:05 p.m., in room 2318, Rayburn House Office Building, Hon. Ken Calvert, Chairman ofthe Subcommittee, presiding. Chairman Calvert. This hearing of the Energy and Environ- ment Subcommittee will come to order. Today we will review a program whose success will have pro- found importance for medical science for the 21st Century. Some of our witnesses today have used some strong language in describing the value ofthe human genome project, but it's hard to exaggerate the importance of a program that could lead to prevention, and even cures, to some ofthe most serious diseases that afflict us. The sequencing ofthe human genome began in the mid-1980's as an ef- fort by the Department of Energy (DOE) to study the effects of ra- diation on the survivors of Hiroshima and Nagasaki. However, it became an international program with much broader implications and our federal program is jointly run by DOE and the National Institutes of Health. As the 15-year, $3 billion federal program reached its halfway point this year, the scientific world was stunned on May 9th when one ofthe country's foremost genetic sci- entists. Dr. Craig Venter, and the Perkin-Elmer Corporation an- nounced they would form a new venture to, as they put it, "sub- stantially complete the sequencing of the human genome" in 3 years at one-tenth the cost ofthe federal program. Just how this should affect the government program is the focus of this hearing today. Press reports and some back and forth be- tween critics and supporters of the federal program have raised as many questions as it has produced answers. For example, are the goals ofthe initiative realistic orjust an optimistic vision? Will this private sector initiative duplicate the federal program and make it redundgmt or is it another approach that can complement the fed- eral program and make it stronger? Is the pace and the cost of the federal program increased by the bureaucratic nature of any fed- eral program or does the timetable and cost reflect what is nec- essary to do a thorough job? And will the federal program utilize (1) the latest technology described in the private sector announce- ment? Our witnesses today, a cross-section of distinguished scientists from the government and from the private sectors, should be able to supply, I hope, some ofthe answers to those questions. One of the witnesses today warns that Congress is the wrong forum in which to debate the relative merits of different scientific approaches to sequencing the human genome. Let me say I couldn't agree more. We're not, as my friend Greorge Brown might say, set up to be a science court. However, we are given the responsibility of overseeing a federal program that has spent about $1.9 billion to date. The—purpose of this hearing is to get the best advice possible on how to how addi- tional moneys should be spent. I would also like to take a moment to thank our witnesses for being here today. Some ofyou traveled long distances at your own expense; others had to rearrange their personal schedules to fit ours, and we certainly appreciate it. Before I introduce our panel, let me turn to my good friend from Indiana, the distinguished Ranking Minority Member, Mr. Roemer, for his opening remarks. Mr. Roemer. I thank our distinguished Chairman and want to applaud him and salute him for this timely hearing on such a com- plicated, yet fascinating, subject. I would ask unanimous consent that my entire statement be entered into the record, Mr. Chair- man. Chairman Calvert. Without objection, so ordered. Mr. Roemer. And I willjust talk for a few seconds and then yield back the balance of my time to this expert panel. Certainly we have heard the mantra in this Congress of faster, cheaper, better. We have heard promises at times from the public sector, and prom- ises at times from the private sector, that appeared too good to be true. Here we have the possibility, a golden possibility, ofa private- psucbileinccepaanrdtnienrsphhiepnotmheantalcorueltdurrnesfourltthientapxhpeanyeorm.enWael wraentturtno sfeoer ifthese promises, and ifthis potential, is in fact true and if, in fact, we can do this partnership between the public and private sector that some have talked about. We want to look at the question of privacy and patent issues. We want to look at many other serious questions when it results in cutting the costs as has been talked about in the press by such a significant degree, yet yielding the science that we have been talking about for the last decade. So I'm anxious to hear from our expert witnesses. I'm very, very inter- ested in this topic and we look forward to our expert panel giving us the insight and the advice to fulfill the mantra of faster, cheap- er, better, not just with political rhetoric but with real promise for a private sector, public sector partnership. And with that, I yield back the balance ofmy time. [The prepared statement ofMr. Roemer follows:]