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Foreword: The Human Genome Initiative: Genetics’ Lightning Rod

Published online by Cambridge University Press:  24 February 2021

Jon Beckwith
Jon Beckwith*
Affiliation:
Harvard Medical School, Legal and Social Implications of the Human Genome Initiative of the National Center for Human Genome Research
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American Journal of Law & Medicine , Volume 17 , Issue 1-2: The Human Genome Initiative and the Impact of Genetic Testing and Screening Technologies , 1991 , pp. 1 - 13
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Copyright © American Society of Law, Medicine and Ethics and Boston University 1991

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References

1 Watson, , The Human Genome Project: Past, Present, and Future, 248 SCIENCE 44, 44 (1990)Google Scholar (“When finally interpreted, the genetic messages encoded within our DNA molecules will provide the ultimate answers to the chemical underpinnings of human existence.“). See also SUZUKI, D. & KNUDTSON, P., GENETHICS: THE CLASH BETWEEN THE NEW GENETICS AND HUMAN VALUES 316-17 (1990)Google Scholar.

2 Davis & Colleagues at Harvard Medical School, Department of Microbiology & Molecular Genetics, The Human Genome and Other Initiatives, 249 SCIENCE 342, 342 (1990)Google Scholar [hereinafter Davis] (“As more than 95% of the human genome does not code for the kinds of functions that we can recognize, it has been temporarily called ‘junk.’ “).

[T]he scope of… [the Human Genome Initiative (HGI) as originally envisioned] would be unparalleled in the history of the life sciences. It is estimated that to sequence the three billion bases in the human genome, using existing technologies … would require up to 30,000 person-years of labor, the creation of centralized superconductor data bases to store the sequences, and a budget exceeding U.S. $2 billion. This requirement would place it among the ranks of such ambitious, goal-oriented Big Science projects of the past as the building of the first atomic bomb or sending astronauts to the moon.

D. SUZUKI & P. KNUDTSON, supra note 1, at 316-17. Cf. OFFICE OF TECH. ASSESSMENT, U.S. CONG., MAPPING OUR GENES, GENOME PROJECTS: HOW BIG, How FAST? 10 (1988) [hereinafter MAPPING OUR GENES] (OTA rejects this categorization, noting that HGI “will not require budgets as large as such megaprojects, nor are the technical ends as focused.“).

4 Davis, supra note 2, at 342; Yaes, , Letter to the Editor: Funding the Human Genome Project, 264 J. A.M.A. 2866-67 (1990)Google Scholar (“At present, some study sections of the National Institutes of Health [NIH] have money to fund only 15% or 20% of the research proposals deemed worthy of support … . I fear a financial black hole, siphoning funds away from smaller, investigatorinitiated biomedical research projects.“). Cf. Watson, , Response to Yaes, 264 J. A.M.A. 2867 (1990)Google Scholar (“The projected funding rate at … NIH is 25% of approved grants.“). See also Cantor, , Orchestrating the Human Genome Project, 248 SCIENCE 49 (1990)Google Scholar; Roberts, , Academy Backs Genome Project, 239 SCIENCE 725 (1988)Google Scholar.

5 See Lippman, , Prenatal Genetic Testing and Screening: Constructing Needs and Reinforcing Inequities, 17 AM. J.L. & MED. 15 (1991)Google Scholar; Wulf, , Function and Value of Medical Knowledge in Modem Diseases, in 36 PHILOSOPHY AND MEDICINE: THE GROWTH OF MEDICAL KNOWLEDGE 76, 76–80Google Scholar (H. tenHave, G. Kimsma & S. Spicker eds. 1990); Roberts, , Academy Backs Genome Project, 239 SCIENCE 725 (1988)Google Scholar.

6 Davis, supra note 2, at 342-43; Martin, , We GNOMES Find the PROJECT an Atlas but No Treasure, 2 NEW BIOLOGIST 385 (1990)Google Scholar. See Angier, , Vast, 15-year Effort to Decipher Genes Stirs Opposition, N.Y. Times, June 5, 1990Google Scholar, at Al, col. 5.

7 See generally T. DUSTER, BACKDOOR TO EUGENICS (1990); N. HOLTZMAN, PROCEED WITH CAUTION: PREDICTING GENETIC RISKS IN THE RECOMBINANT DNA ERA (1989); D. NELKIN & L. TANCREDI, DANGEROUS DIAGNOSTICS: THE SOCIAL POWER OF BIOLOGICAL INFORMATION (1989).

8 “The genome of an organism can thus be defined as the DNA comprising its chromosomes.” MAPPING OUR GENES, supra note 3, at 3. A genome has also been defined as “[a]U the genetic material in the chromosome of a particular organism; its size is generally given as the total number of base pairs.” UNITED STATES DEP't OF HEALTH & HUM. SERVS. & DEPARTMENT OF ENERGY, UNDERSTANDING OUR GENETIC INHERITANCE, THE U.S. HUMAN GENOME PROJECT, THE FIRST FIVE YEARS, FY 1991-1995 86 (1990) [hereinafter THE FIRST FIVE YEARS].

9 See generally D. SUZUKI, A. GRIFFITHS, J. MILLER & R. LEWONTIN, AN INTRODUCTION TO GENETIC ANALYSIS (4th ed. 1989).

10 Watson, supra note 1, at 4; Watson, & Cook-Deegan, , Origins of the Human Genome Project, 5 FASEBJ. 8 (1991)Google Scholar.

11 Watson & Cook-Deegan, supra note 10, at 9.

12 Cantor, supra note 4, at 51; Watson, supra note 1, at 45. “DNA sequencing” refers to the determination of the order of DNA's four nucleotides — adenosine, guanosine, cytidine and thymidine. THE FIRST FIVE YEARS, supra note 8, at 85.

13 Cantor, supra note 4, at 50-51.

14 THE FIRST FIVE YEARS, supra note 8, at 2.

15 Watson, supra note 1, at 46.

[T]here is no single genome project. Three major groups are funding various aspects of an overall “initiative” on genome mapping: The National Institutes of Health (NIH), the Department of Energy (DOE), and the Howard Hughes Medical Institute. Other organizations are doing work on the genome in other countries, and a private organization, the Human Genome Organization (HUGO), has proposed that it act as an international coordinator among groups in the different countries pursuing this project.”

Annas, , Mapping the Human Genome and the Meaning of Monster Mythology, 39 EMORY L.J. 629, 637 (1990)Google Scholar.

In 1988 Congress appropriated funds to DOE and NIH (through the Department of Health and Human Services). NIH formed the Office of Human Genome Research, which, in 1989, became the National Center for Human Genome Research. In 1988 as well, NIH and DOE signed a Memorandum of Understanding and appointed a joint committee to coordinate the initiative. Watson, supra note 1, at 45-47. See also THE FIRST FIVE YEARS, supra note 8, at 41-83 (reprinting the Memorandum of Understanding and the Joint Committee's Compositions).

NIH currently focuses on dispersing research grants, while DOE stresses development of mapping, sequencing and data management technologies and human genome map production. Cantor, supra note 4, at 50.

16 Booth, President Puts Fiscal Faith in Science: Beneficiaries Include Weapons, World Climate, “Smart” Highways, Wash. Post, Feb. 13, 1991, at A17, col. 1 (noting that the proposed 1992 budget for “[t]he Human Genome Project … would go up 26 percent to $169 million“). “The original cost estimates by the National Academy of Sciences and the Office of Technology Assessment were that a level of funding of approximately $200 million per yer for about 15 years would be needed to complete the human genome initiative at both NIH and DOE.” Cantor, supra note 4, at 50.

17 Goals for FY 1991-1995 include pilot projects “to test strategies and develop technologies for larger sequencing projects, with the aim of reducing costs to well below $1 per base pair by the end of the first five year period… . It is by no means certain that enhancement of current technology … will bring the cost of sequencing down sufficiently.” THE FIRST FIVE YEARS, supra note 8, at 15-16. Even if appropriate, cost-reducing technology is produced, the 5-year goal for sequencing is on “an aggregate of 10 million base pairs of human DNA in large continuous stretches.” Id. at 16. Continuing re-evaluation of goals is expected. See Watson, supra note 1, at 47.

18 THE FIRST FIVE YEARS, supra note 8, at 15-16.

19 Id. at 17-20; Lewin, , Shifting Sentiments Over Sequencing the Human Genome, 233 SCIENCE 620-21 (1990)Google Scholar.

20 A “marker” is “[a]n identifiable physical location on a chromosome (e.g., restriction enzyme cutting site, gene, RFLP marker) whose inheritance can be monitored. Markers can also be expressed regions of DNA (genes) or some segment of DNA with no known coding function but whose pattern of inheritance can be determined.” MAPPING OUR GENES, supra note 3, at 202.

21 THE FIRST FIVE YEARS, supra note 8, at 5.

22 See Gusella, Wexler, Conneally, Naylor, Anderson, Tanzi, Watkins, Ottina, Wallace, Sakaguchi, Young, Shoulson, Bonilla, & Martin, , A Polymorphic DNA Marker Genetically Linked to Huntington's Disease, 306 NATURE 234 (1984)Google Scholar [hereinafter Gusella].

23 See infra note 60; Blakeslee, Scientists Find Hope for Victims of Cystic Fibrosis by Discovering Its Gene, N.Y. Times, Aug. 24, 1989, at B13, col. 1; Saltus, Race Is on to Apply Discovery, Boston Globe, Aug. 28, 1989, at 25, col. 1.

24 Angier, Scientists Discover the Gene in a Nervous System, N.Y. Times, July 30, 1990, at A l , col. 2.

25 Egeland, , Gerhardt, , Pauls, , Sussex, , Kidd, , Allen, , Hostelter, & Housman, , Bipolar Disorders Linked to DNA Markers on Chromosome II, 325 NATURE 783 (1987)Google Scholar.

26 Kelsoe, , Ginns, , Egeland, , Gerhard, , Goldstein, , Bale, , Pauls, , Long, , Kidd, , Conte, , Housman, & Paul, , Re-evaluation of the Linkage Relationship Between Chromosome Up Loci and the Gene for Bipolar Affective Disorder in the Old Order Amish, 342 NATURE 238, 241-42 (1989)Google Scholar.

27 See, e.g., Cimons, It's All in the Family: As Doctors Study the Mystery of Cancer and Other Deadly Diseases, Families May Turn Out to Be Best Laboratory, L.A. Times, Feb. 10, 1991, (Magazine), at 8; Cooke, Colorectal Cancer Traced to Gene Mutation, Newsday, Mar. 15, 1991, at 15; Friend, Gene Therapy May Aid Heart Ailment, USA Today, Feb. 11, 1991, § D, at 1, col. 1; Gene Cited in Genetic Research of Diabetes, N.Y. Times, Feb. 15, 1991, at A17, col. 1; Gene Found: It May Cause Colon Cancer, Chicago Tribune, Mar. 15, 1991 § C, at 3, col. 1; Kolata, Alzheimer's Researchers Close in on Causes, N.Y. Times, Feb. 26, 1991, at CI, col. 5; Kotulak, Diabetes Gene Marker Discovered, Chicago Tribune, Feb. 15, 1991, § C, at 3, col. 1; Kotulak & Gorner, Babies By Design, Chicago Tribune, Mar. 3, 1991, § C (Magazine), at 14 (noting genetic propensities toward heart disease); Saltus, Gene Found is a Clue to Alzheimers: Scientists Debate Role of Mutation Found in the Afflicted Families, Boston Globe, Feb. 25, 1991, at 33, col. 1.

28 Gusella, supra note 22, at 234-48.

29 Collins, , The Genome Project and Human Health, 5 FASEB J. 77 (1991)Google Scholar; Koshland, , Sequences and Consequences of the Human Genome, 246 SCIENCE 189 (1989)Google Scholar; Watson, supra note 1, at 44; Wright, Achilles’ Helix, NEW REPUBLIC, July 9 & 16, 1990, at 21, 27-29.

30 Koshland, supra note 29, at 189.

31 See T. DUSTER, supra note 7; N. HOLTZMAN, supra note 7; D. NELKIN & L. TANCREDI, supra note 7.

32 See supra note 27 and sources listed therein.

33 Yaes, supra note 5, at 2866

in underdeveloped countries, the majority of premature deaths result from infections and parasitic diseases. In areas of Africa whe re it is endemic, the ‘defective’ sickle cell gene actually confers a net benefit as the heterozygous individuals protected from malaria vastly outnumbered the homozygous individuals who have sickle cell disease. It is more likely that we would obtain information that would help us treat these diseases from sequencing the parasite's genome rather than our own.

Thus, benefits accruing from HGI will not be distributed evenly. See also Lippman, supra note 5, at 37-44.

34 Koshland, supra note 29, at 189. See also Fox, , Magasanik, , Singer, , Solomon, , Gellert, & Haber, , Letter to the Editor: The Human Genome Project: Pro and Con, 247 SCIENCE 270 (1990)Google Scholar; Koshland, 247 SCIENCE 270 (1990) (response to Fox et al., supra).

35 Collins, supra note 29, at 77.

36 Nelkin, & Tancredi, , Classify and Control: The Use of Genetic Screening Information in the Schools, 17 AM. J.L. & MED. 51 (1991)Google Scholar.

37 See Lippman, supra note 5.

38 T. DUSTER, supra note 7, at 14-36; R. LEWONTIN, S. ROSE & L. KAMIN, NOT IN OUR GENES (1984).

39 Rossiter, & Caskey, , Molecular Studies of Human Genetic Disease, 5 FASEB J. 21, 21–26 (1991)Google Scholar (reviews current techniques available “for detecting disease-causing mutations within human genes“).

40 Lippman, supra note 5, at 26-33 (discussing the construction of notions of “need” and “choice“).

41 The sequence in the DNA is a code for the sequence of amino acids in a protein. Once one has the DNA sequence of a gene, one can deduce the amino acid sequence of the protein.

42 See T. DUSTER, supra note 7, at 45.

43 Cantor, supra note 4, at 49.

44 Culliton, , NIH Readies Plan for Cost Containment, 250 SCIENCE 1198, 1198-99 (1990)Google Scholar (reporting that in fiscal year 1986, 6,149 total competing awards were made; the number for 1990 is estimated at 4,577).

45 Roberts, , Tough Time Ahead for Genome Project, 248 SCIENCE 1600, 1600-01 (1990)Google Scholar.

46 NIH and DOE prepared separate budgets for HGI work. See THE FIRST FIVE YEARS, supra note 8, at 50.

48 See supra notes 44, 49 & 50 and sources contained therein.

49 Culliton, , Biomedical Funding: The Eternal “Crisis”, 250 SCIENCE 1652, 1652-53 (1990)Google Scholar.

50 Culliton, supra note 44, at 1198.

51 Lucchesi, , NIH Budget Crisis, 247 SCIENCE 393 (1990)Google Scholar; Palca, , Grant Squeeze Stirs Up Lobbyists, 248 SCIENCE 803, 804 (1990)Google Scholar.

52 See supra note 3 and accompanying text.

53 Wright, supra note 29, at 31.

54 These legal and ethical concerns were noted at HGI's inception. See THE FIRST FIVE YEARS, supra note 8, at 20-21.

55 Billings, Kohn, de Cuevas & Beckwith, Genetic Discrimination As a Consequence of Genetic Screening, to be published in AM. J. HUM. GENETICS (1991); Gostin, , Genetic Discrimination: The Use of Genetically Based Diagnostic and Prognostic Tests by Employers and Insurers, 17 AM. J.L. & MED. 109 (1991)Google Scholar.

56 See generally T. DUSTER, supra note 7; N. HOLTZMAN, supra note 7; Lippman, supra note 5, at 34-36; Nelkin & Tancredi, supra note 36, at 51.

57 See generally N. HOLTZMAN, supra note 7.

58 Botstein, , White, , Skolnick, & Davis, , Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms, 32 AM. J. HUM. GENETICS 314 (1980)Google Scholar.

59 Keller, Green, Helms, Cartinhour, Weiffenbach, Stephens, Keith, Bowden, Smith, Lander, Botstein, Akos, Rediker, Gravius, Brown, Rising, Parker, Powers, Watt, Kauffman, Bricker, Phipps, Muller-Kahle, Fulton, Ng, Schumm, Bramman, Knowlton, Barker, Crooks, Lincoln, Daly, & Abrahamson, , A Genetic Linkage Map of the Human Genome, 51 CELL 319 (1987)Google Scholar; White, & Lalovel, , Sets of Linked Genetic Markers for Human Chromosomes, 22 ANN. REV. GENETICS 259 (1988)Google Scholar.

60 Kerem, , Rommens, , Buchanan, , Markiewicz, , Cox, , Chakravarti, , Buchwald, & Tsui, , Identification of the Cystic Fibrosis Gene: Genetic Analysis, 245 SCIENCE 1073 (1989)Google Scholar; Rommens, , Ianuzzi, , Kerem, , Drumm, , Melmer, , Dean, , Rozmahel, , Cole, , Kennedy, , Hidaka, , Zsiga, , Buchwald, , Riordon, , Tsui, & Collins, , Identification of the Cystic Fibrosis Gene: Chromosome Walking and fumping, 245 SCIENCE 1059 (1989)Google Scholar; Riordan, , Rommens, , Kerem, , Aim, , Rozmahel, , Grzelczak, , Zielnski, , Lok, , Plavsic, , Chov, , Drumm, , Iannuzzi, , Collins, , & Tsui, , Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA, 245 SCIENCE 1066 (1989)Google Scholar.

61 Wilfond, & Fost, , The Cystic Fibrosis Gene: Medical and Social Implications for Heterozygote Detection, 263 J. A.M.A. 2777 (1990)Google Scholar.

62 Watson, supra note 1, at 46.

63 Cook-Deegan, NIH-DOE Joint Working Group on Ethical Legal and Social Issues (established Human Genome News, National Center for Human Genome Research, May 1990 at 5-6).

64 THE FIRST FIVE YEARS, supra note 8, at 79.

65 Id.

66 Id. at 20-21, 65-73.

67 Id.

68 Gostin, supra note 55, at 109.

69 Id.

70 Nelkin & Tancredi, supra note 36, at 51.

71 Id.

72 Andrews, & Jaeger, , Confidentiality of Genetic Information in the Workplace, 17 AM. J.L. & MED. 75 (1991)Google Scholar.

73 Id.

74 Lippman, supra note 5, at 15.

75 Id.

76 Id.