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Bar Journal - March 1, 2003

Human Genetics and Some Legal Implications

By:
 

My first face-to-face encounter with the future world as had been portrayed in science fiction by such writers as Cordwainer Smith, who was also a physician, and his scientifically engineered mutants, occurred when Walter Gilbert won the Nobel Prize in chemistry in 1980 for his "contributions concerning the determination of base sequences in nucleic acids."1 As Wally was married to a good friend of mine, I stopped by the celebrations in their Cambridge, Massachusetts home to offer congratulations. It would be three years before I began law school and my thoughts at the time concerned more the ethical and social dilemmas, portrayed in science fiction, than legal ones.

Some 23 years later, it is clear that ethical and social dilemmas are the lay part of what will more than likely be played out in the courts by lawyers and judges who will have to dissect scientific information to apply legal principles and norms as well as to develop legal principles and norms that are applicable. As such, the language of the human genome has considerable legal significance.

The worldwide effort to develop and apply the technologies needed to map and sequence the human genome,2 or, in other words, to decipher the alphabets and languages of proteins and nucleic acids3 that make each of us alike, and, yet, individual, was completed in draft form in June 2000.4 This article generally explores the language and history of that process and states some of the legal implications of human genome research for lawyers and courts.

PEAS AND PIG GUTS

In the late nineteenth century, before the establishment of the Nobel Prize, Gregor Mendel, a Czech monk, and Friedrich Miescher, a Swiss physician, independently and unknown to one another, performed experiments that marked the beginning of genetics as a science.5 In the fall of 1868, Miescher, in experiments that involved breaking down pus from local hospitals using chemicals from a pig’s stomach,6 isolated a new compound from cell nuclei, which he called nuclein, and proposed it may hold the key to life.7 Mendel’s work, involving pea hybrids, led to the discovery of inherited traits (e.g. dominant and recessive)8 and the suggestion that these inherited traits are molecularly packaged in genes.9

Mendel published his findings in 1866.10 Miescher’s findings were only published after his death in 1890.11 Neither man’s work received attention from the scientific community at the time. And yet, it was the separate discovery of nuclein (nucleic acid) and genes that led to the biochemistry of genetics and molecular biology which has dominated scientific research in the twentieth century.12

THE CODE

"Genes" are the functional units of heredity contained within our chromosomes.13 Each person has 46 chromosomes or pieces of tightly coiled deoxyribonucleic acid (DNA),14 23 from each parent, in every cell (except red blood and reproductive cells).15 Much of this DNA, about 97%, has a largely unknown function.16 Genes constitute the 3% that contain instructions for building proteins that are essential for determining our physical and functional lives (coding DNA).17

When the coils of DNA are unwound, the DNA molecule looks like a ladder, pairs of nucleotides making up the rungs. Just as a cell’s subunit is its nucleus, DNA’s subunits are its nucleotides, or one of four nitrogenous bases (adenine (A), thymine (T), guanine (G), and cytosine(C)) found in deoxyribonucleic acid.18 Each gene is a connected series of rungs on the DNA ladder and is interspersed among the millions of bases that make up the remaining rungs.19 More specifically, a gene is a set sequence of these nucleotides20 (rungs of the DNA ladder) located in a particular position on a particular chromosome (a coil of DNA)21 that codes for protein.22 The order of these genetic bases, on each strand of DNA, forms the base sequence of an individual.23 The slight variation in this sequencing is what makes people unique,24 and, along with environmental factors, accounts for how well we process foods, detoxify poisons, and respond to infection.25 It is our map for life.

In DNA, these bases occur in weakly bonded pairs – adenine always bonding to thymine and guanine always boding to cytosine.26 These weakly bonded nucleotides ("base pairs") hold together two strands of DNA, the ladder, that twist in the shape of a double helix.27 When cells replicate, the DNA separates, or unzips, down the center, separating the base pairs.28 Each strand then replicates with the remaining bases forming an exact copy of the missing bases – adenine to thymine, guanine to cytosine and vice-versa.29

All the genetic material in the chromosomes of a particular person is that person’s genome and is a complete set of instructions for making and maintaining that person as an organism.30 Another term for an individual’s actual genes is genotype.31 The human genome is the genetic material in the human organism and, while there are billions of variations on a theme, the genetic difference from one human to the next is small – any two individuals differing in only about .1% of their bases32 – and the mapping of the human genetic code is referred to in the singular.33

A NEW BRANCH OF SCIENCE

In 1944, 60 years after the work of Mendel and Miescher, Oswald Avery, a Halifax, Canada native, succeeded in transforming a rough-skinned bacterium into a smooth-surfaced bacterium by introducing a substance into the rough-surfaced bacterium that he had extracted from the smooth-surfaced bacterium.34 Once purified, the substance was identified as pure nucleic acid, or DNA,35 and a new branch of science, molecular biology, was born.36 Nine years later, the structure of DNA was discovered and, in 1962, the Nobel Prize in Medicine was awarded to Francis Crick, James Watson, and Maurice Wilkins for this achievement.37 Wilkins’ research indicated that the long molecular chains of DNA were arranged in the form of a double helix.38 Watson and Crick showed that the nitrogenous bases were paired in a specific manner in the intertwined helices and the importance of this arrangement.39 In the ensuing 40 years, dozens of Nobel Prizes have been awarded to physicians and scientists for their discoveries in molecular biology40 including this past year to Sydme Brenner, Robert Howitz, and John Salston (Nobel Prize in Physiology or Medicine 2002) for their identification of "key genes regulating organ development and programmed cell death,"41 and to John Fenn, Koichi Tonaka, and Kurt Wûthrich (Nobel Prize in Chemistry 2002) "for the development of methods of identification and structure analyses of biological macromolecules."42

THE HUMAN GENOME PROJECT

In 1984, at a conference co-sponsored by the United States Department of Energy (DOE), the question of whether "modern DNA research offers a way of detecting genetic mutations—and in particular, of observing any increase in the mutation rate among the survivors of the Hiroshima and Nagasaki bombings and their descendents"43 was examined. Two years later, DOE announced the Human Genome Initiative.44 The DOE’s interest in a comprehensive picture of the human genome included not only mutation rates, but also "the risk posed by environmental exposures to toxic agents,"45 "improvements in the resistance of plants to environmental stress,"46 and the "practical use of genetically engineered microbes to neutralize toxic wastes."47 In 1988, the National Institutes of Health (NIH) signed an agreement with DOE for a concerted interagency effort48 to discuss how we physically develop which, in turn, would provide the basis for medicine characterized by looking at the genetic or environmental causes of disease rather than medicine characterized by treating symptoms.49 The official "clock" on the Human Genome Project began October 1, 1990.50 These initiatives provided resources and paved the way for global research. First predicted to be completed by 2005, this timetable was revised as the research moved faster than predicted and the complete sequence of the human genome was completed in working draft form in June 2000.51

SOME LEGAL IMPLICATIONS

When James Watson won the Nobel Prize in 1962, he recognized that human genome studies had broader medical and societal implications.52 This led directly to the establishment of ELSI, a program within the DOE and NIH devoted to the ethical, legal, and social implications of genome research.53 The list of ELSI issues is long and includes "the fair use of genetic information; the impact on genetic counseling and medical practice; the effects on personal reproductive decisions; past uses and misuses of genetic information; privacy implications of personal genetic information in various settings…; issues of the commercialization and intellectual property protection of genome results, including DNA sequences; conceptual and philosophical implications; implications of personal genetic variation; and genetic literacy and the understanding of genetic information, particularly information related to complex conditions that involve multiple genes and genetic-environment interactions."54 Almost all of these issues have legal ramifications.55 Judicial education, aimed at introducing "the most current and rigorous scientific information related to genomics in a form that is most useful and understandable to judges and juries,56 has been one of the goals of the federally-funded Human Genome Project.57

For New Hampshire judges, between the years 1994 and 2000, there were four New England regional conferences, organized by the judiciaries in Maine, New Hampshire, and Vermont, that addressed court-related issues of human genome research,58 including the judicial role of gatekeeper in admitting or excluding scientific evidence. This particular issue has had ramifications in New Hampshire as, until very recently, the New Hampshire Supreme Court had not decidedly chosen between the two federal standards,59 the first set forth in Frye v. United States60 to be superseded by Daubert v. Merrell Dow Pharmaceuticals61 in 1993, under Federal Rule of Evidence 703.

The importance of which standard to apply, whether the evidence is generally accepted in the relevant scientific community,62 or whether the evidence is subjected to a more open-ended approach in which the trial judge must determine whether the underlying scientific methodology is valid by considering, among other factors, acceptance in the relevant scientific community,63 has implications for the trial judge and lawyers in DNA cases.64 Molecular genetics is a complicated science where experts will be pitted against experts with the information sometimes presented, as with all sciences, by fringe elements of the scientific community.65

It is conceivable that human genome research will not only impact how legal standards are applied, but, in some instances, the standards themselves. An example is the reasonable person standard to determine an individual’s legal duty.66 Conversely, the standard is applied to determine an individual’s responsibility to mitigate damages.67 The standard of behavior of a reasonable person is a composite community ideal of reasonable behavior derived in law because it is impossible to determine precise behavioral abilities of an individual in any given legal proceeding.68 Genetic testing may give us this precise evaluation of an individual’s behavioral abilities and impact the law’s assumption about individuals as responsible agents.69

Criminal law is the area that seems to have received the most media attention with respect to DNA profiling evidence. Besides identification,70 DNA evidence gathered at a crime scene contains the chemical blueprint for the person’s entire biological make-up. Information, such as the gender of the person, can be gleaned from the DNA sample, something that was not possible with a fingerprint.71 We are also seeing the use of DNA evidence as exculpatory. In addition to assisting prosecution in ruling out suspects, DNA testing may become a strategy in criminal defense—to assert behavioral genetics arguments on behalf of the criminal defendant.72

Perhaps one of the largest areas of legal impact will be on the health care systems. As gene therapy becomes a reality in preventing, curing, or more effectively treating illnesses, the conflict will come over health insurance coverage.73 In the case of germ-line therapies, or altering DNA at an early embryonic stage, conflicts may exist between the researchers, parents and the unborn subject.74 Liability risks could focus on primary care physicians and genetic counselors as the gateways to gene therapy who run the risk of failing to recommend a new technique or of recommending a new technique and failing to disclose it is still experimental.75 Another health issue is the responsibility for environmental mutagens and carcinogens and for remedial genetic therapy.76 Medical information confidentiality, particularly as it pertains to DNA information that may affect employment or insurance decisions, is likely to be an issue.77 Privacy, in general, whether constitutional, common law, or statutory,78 or whether it arises in the workplace, schools, or in the context of adoptions,79 will be an emerging area of law as genetic testing becomes more commonplace.80

GOOD-BYE AVERAGE

Law and science have a way of objectifying subjective information. As we all speculate the impact of molecular biology on our personal lives, e.g. will the genetic enhancement or engineering that our child needs to continue a productive life be covered by insurance, or be excluded as not specifically included, unnecessary, or experimental, questions of unfairness created by genetic enhancements81 continue to loom. Perhaps Cordwainer Smith was not so far off in his perception of the evolution of a lesser class based on inferior genetics. It will, in part, be up to the courts and the legal community to sort out the ethical and social, as well as legal and medical, implications of human genetics research and discoveries.

ENDNOTES

1.

"The Nobel Prize in Chemistry 1980," at http://www.nobel.se/chemistry/laureates/1980/index.html (last modified June 16, 2000) © 2002 The Nobel Foundation.

2.

Aristides A.N. Patrinos, Foreword to To Know Ourselves: The U.S. Department of Energy and the Human Genome Project (Douglas Vaughn, ed. July 1996), at p. 2.

3.

P. Reichard, Presentation speech for the Nobel Prize in Physiology or Medicine 1968 at http://www.nobel.se/medicine/laureates/1968/press.html (last modified March 22, 2002) © 2002 The Nobel Foundation, at p. 2.

4.

U.S. Department of Energy Human Genome Program, "Human Genome Project Milestones Celebrated at White House," Human Genome News, at http://www.ornl.gov/hgmis/publicat/hgn/vllnl/04draft.html, at 1.

5.

Reichard, supra note 3, at 1.

6.

BBC Science Shack, "Can you tell me who discovered DNA?" at http://www.bbc.co.wk/science/science shack/backcat/adamexp/wlddiscoveringdna.shtml (last visited Nov. 14, 2002).

7.

Reichard, supra note 3, at 1.

8.

Seung Yon Rhee, Gregor Mendel (1823-1884) at http://www.accessexcellence.org/AB/BC/Gregor_Mendel.html (last visited Jan. 15, 2003) © 1999Access Excellence @ the National Health Museum.

9.

Reichard, supra note 3, at 1.

10.

Id.

11.

Id.

12.

Id.

13.

Definitions were taken from the glossary provided to Maine, New Hampshire, and Vermont judges at the Genetics in the Courts conference in October 2000 in Killington, Vermont and from "A Genetic Glossary for Judges," The Judges’ Journal, Summer 1997, at page 65. Portions of the conference glossary were taken from definitions in the U.S. Congress Office of Technology Assessment document: Mapping Our Genes: The Genome Projects: How Big, How Fast? OTA-BA-373, Washington, DC: U.S. Government Printing Office (April 1988).

14.

Id.

15.

Denise K. Casey, "Genes, Dreams, and Reality: The Promises and Risks of the New Genetics," Judicature, Nov. – Dec. 1999, at 105, 107.

16.

Id.

17.

Id.

18.

"Introducing the Human Genome: The Recipe for Life," in To Know Ourselves: The U.S. Department of Energy and the Human Genome Project (Douglas Vaughn, ed. July 1996), at 6.

19.

Denise K. Casey, "What Can the New Gene Tests Tell Us?" The Judges’ Journal, Summer 1997, at 14, 15.

20.

Charles Cantor, Denise Casey, and Sylvia Spengler, U.S. Department of Energy, Primer on Molecular Genetics (June 1992), at 7.

21.

Glossaries, supra note 13.

22.

Id.

23.

Id.

24.

Casey, supra note 15, at 107.

25.

Casey, supra note 19, at 14.

26.

"Introducing the Human Genome: The Recipe for Life," supra, at 6.

27.

Id.

28.

Id.

29.

Id.

30.

Casey, supra note 15, at 107; Glossaries, supra note 13.

31.

Casey, supra note 19, at 66.

32.

Cantor, Casey, and Spengler, supra note 20, at 27.

33.

"Introducing the Human Genome: The Recipe for Life," supra, at 6.

34.

Oswald Theodore Avery (1877-1955), at http://schwinger.harvard.edu/~terning bios/Avery.html (last visited Jan. 15, 2003).

35.

Id.

36.

Reichard, supra note 3, at 1.

37.

Jim Holt, "Photo Finish: Rosalind Franklin and the Great DNA Race," The New Yorker (Oct. 28, 2002) available at http://www.newyorker.com/printable/?critics/021028crbo_books (last visited Dec. 29, 2002). Rosalind Franklin, who died at age 37 of ovarian cancer four years prior to the Nobel Prize being awarded to Watson, Crick, and Wilson, is indisputedly responsible for taking the long exposure X-ray photograph (Photograph 51) from which the discovery of the double helix structure of DNA was made. Controversy has surrounded crediting Franklin for her contribution.

38.

A. Engström, Presentation Speech for the Nobel Prize in Physiology or Medicine 1962 at http://www.nobel.se?medicine/laureates/1962/press.html (last modified Mar. 22, 2002) © 2002 The Nobel Foundation, at 2.

39.

Id.

40.

"The Nobel Prize in Physiology and Medicine – Laureates," at http://www.nobel.se/medicine/laureates/index.html (last modified Nov. 22, 2002) © 2002 The Nobel Foundation, and "The Nobel Prize in Chemistry – Laureates," at http://www.nobel.se/chemistry/laureates/index.html (last modified June 5, 2002) © The Nobel Foundation.

41.

"The Nobel Prize in Physiology or Medicine 2002," at http://www.nobel.se/medicine/laureates/2002/index.html (last modified Oct. 7, 2002) © The Nobel Foundation.

42.

"The Nobel Prize in Chemistry 2002," at http://www.nobel.se/chemistry/laureates/2002/index.html (last modified Oct. 9, 2002) © The Nobel Foundation.

43.

Patrinos, supra note 2, at 2.

44.

Id.

45.

Patrinos, supra note 2, at 3.

46.

Patrinos, supra note 2, at 2.

47.

Id.

48.

"The Genome Project-Why the DOE?: A Bold and Logical Step," in To Know Ourselves: The U.S. Department of Energy and the Human Genome Project (Douglas Vaughn ed. July 1996), at 5.

49.

Id.

50.

Ari Patrinos and Daniel W. Drell, "Introducing the Human Genome Project: Its Relevance, Triumphs, and Challenges," The Judges’ Journal, Summer 1997, at 5,6.

51.

U.S. Department of Energy Human Genome Program, supra note 4, at 1.

52.

Patrinos and Drell, supra note 50, at 8.

53.

Id.

54.

Id.

55.

Id.

56.

Patrinos and Drell, supra note 50, at 9. Two articles that address jury instructions in complex scientific cases, particularly genomic evidence cases, are Robert D. Myers, Ronald S. Reinstein, and Gordon M. Griller, "Complex Scientific Evidence and the Jury," Judicature, Nov. – Dec. 1999, at 150, and Rosalyn B. Bell, "Instructing Juries in Genomic Evidence Cases," The Judges’ Journal, Summer 1997, at 42.

57.

Id.

58.

Tristate 2000: Genetics in the Courts, Killington, Vermont (October 11-14, 2000); Preparing Our Judges for the 21st Century, Rockport, Maine (October 26-29, 1997); Medical/Legal Issues, Brownsville, Vermont (October 25-27, 1995); and Maine, New Hampshire, and Vermont Regional Conference on Evidence, Bethel, Maine (October 26-27, 1994).

59.

Baker Valley Lumber, Inc. v. Ingersoll-Rand Company et al., No. 2001-272, slip op. at 5 (N.H. Dec. 12, 2002) is the first New Hampshire case in which the supreme court has conclusively applied the standard found in Daubert v. Merrell Dow Pharmaceuticals, Inc., 509 U.S. 579 (1993). See also State v. Dahood, No. 99-510, slip op. at 3 (N.H. Dec. 20, 2002).

60.

293 F.1013 (D.C. Cir. 1923)

61.

509 U.S. 579 (1993).

62.

Joseph T. Walsh, "Keeping the gate: the evolving role of the judiciary in admitting scientific evidence," Judicature, Nov. – Dec. 1999, at 140.

63.

Id., at 141.

64.

Joseph T. Walsh, "The Evolving Standards of Admissibility of Scientific Evidence," The Judges’ Journal, Summer 1997, at 33.

65.

Patrinos and Drell, supra note 50, at 9.

66.

Mark A. Rothstein, "The Impact of Behavioral Genetics on the Law and the Courts," Judicature, Nov. - Dec. 1999, at 116, 118.

67.

Id., at 120-121.

68..

Id., at 118.

69.

Id.

70.

Christopher H. Asplen, "Integrating DNA Technology Into the Criminal Justice System," Judicature, Nov. – Dec. 1999, at 144, 148.

71.

Id.

72.

Rothstein, supra note 66, at 118-119; see also Richard Lowell Nygaard, "The Ten Commandments of Behavioral Genetic Data and Criminology," The Judges’ Journal, Summer 1997, at 59.

73.

Maxwell J. Mehlman, "The Human Genome Project and the Courts: Gene Therapy and Beyond," Judicature, Nov. – Dec. 1999, at 124, 126.

74.

Id., .at 127.

75.

Id.

76.

"The Genome Project – Why the DOE?: A Bold and Logical Step," supra note 48, at 4.

77.

Rothstein, supra note 66, at 122-123.

78.

Id.

79.

Patrinos and Drell, supra note 50, at 8.

80.

Rothstein, supra note 66, at 122-123; see also "Adjudicating Neurogenetics at the Crossroad: Privacy, Adoption, and the Death Sentence," The Judges’ Journal, Summer 1997, at 52.

81.

Rothstein, supra note 66, at 130.

Author

Attorney Elizabeth L. Hodges is Deputy General Counsel, NH Supreme Court, Concord, New Hampshire.

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