Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, July-September 1996; 8:(1)
'96 Working Conversation on Genetics
Judges, science advisors, and policymakers began to grapple with the tangle of emerging genetic issues and their impact on the courts in "working conversations" held during the past 2 years. These unique seminars were designed to introduce judges to genetic concepts while developing materials and recruiting faculty for as many as nine large regional judicial and science conferences beginning next year.
The 1996 working conversation, attended by about 35 federal and state judges and a dozen science advisors, was held July 1-7 on Cape Cod, Massachusetts, in the town of Orleans. Also taking part in the dialogue were legislators and other policy leaders who reviewed the efforts of Congress and administrative agencies to anticipate and handle ethical, legal, and social (ELSI) questions confronting them (See "Genetic Privacy and Property"). The meetings, supported by the DOE Human Genome Program's ELSI component, were organized by the Einstein Institute for Science, Health, and the Courts (EINSHAC) as part of a major judicial education effort (See "Justice Faces Genome"). Highlights of this summer's meeting follow. Aristides Patrinos, director of the DOE Human Genome Program, convened the meeting with a discussion of the Human Genome Project's growing impact, citing such spin-offs as the Microbial Genome Project (see Archaea article ). He emphasized the importance of identifying and attempting to resolve ELSI concerns arising from data produced by genomic research.
In addition to intense discussions focusing on legal and scientific issues, popular features at the meeting included a laboratory demonstration on DNA fingerprinting (see "Creating and Comparing DNA Profiles") and a hands-on computer workshop showcasing a prototype version of the new online journal CASOLM (Courts and Science On-Line Magazine, ). Created by Hazel Witte (EINSHAC) with technical assistance from HGN staff, CASOLM features simple explanations of science, hypothetical cases, and links to more - detailed information. A core of 20 pilot courts will review CASOLM and provide feedback and materials for a year, after which the magazine will be distributed to 21,000 federal and state courts and will be available to all parties via the Internet.
Linking Law and Science
At the meeting, legal and genetic points were considered in the context of imaginatively written case scenarios, most based on composites of actual cases. "There is little common language between the scientific and legal communities," notes EINSHAC's President Franklin Zweig, "but case histories can cut through and demystify the subject matter for both. They provide a common focus for discussion and help participants empathize with problems that put ordinary people in extraordinary cases."
Reviewing the facts for the first case history, Judge Gladys Kessler (U.S. District Court for the District of Columbia) observed that while the science is new, the fundamental legal concepts are not. She encouraged participants to try to meld the science with the traditional legal framework and analysis methods as much as possible. Building bridges between law and science will not be easy, she warned, but it is essential if people are to have confidence in our legal system.
"The law is years behind where the science is now," Kessler said, "and the span will lengthen as science jumps farther ahead. We must struggle to find a way to deal with the disparity, or legal solutions will become irrelevant. The law is a staid and lumbering mechanism for social control, while science moves at lightning speed. We need to find ways to harmonize the slow pace of law with the rapid pace of science."
Thus charged, participants turned their attention to analyzing the spectrum of genetic, legal, and ethical issues posed by the hypothetical case histories. Science advisors explained relevant concepts of molecular biology and genetic testing, and small groups formed to hash out the issues.
Case Scenario: Fired After Alzheimer's Disease Diagnosis
Catherine F., a model employee who was 2 years from retirement with full benefits, was fired abruptly. The reason: her employer had been informed by the company's health insurance carrier of an increase in premiums due to Catherine's recent diagnosis of Alzheimer's disease by her family physician. Her court-appointed lawyer filed suit for discrimination under the Americans with Disabilities Act. Catherine's daughter filed a petition for guardianship. Functional, physical, psychiatric, and genetic tests were performed, all with ambiguous results.
A key issue: Is genetic-testing evidence admissible in this case?
Reviewing the facts for the group, Judge Barbara Rothstein (U.S. District Court for the Western District of Washington) asked participants to consider the case in the context of a pretrial hearing to determine admissibility of scientific evidence. In federal and some state courts, this type of hearing is called a Daubert hearing. After careful consideration of the reliability and usefulness of the evidence offered, judges decide whether juries should be allowed to hear it.
Under Daubert, new or established scientific evidence must be based on demonstrably valid methodologies and principles. Other factors, such as the extent of peer review and the older Frye rule's standard, may also be used.
Based on a 1923 District of Columbia lie-detector case, Frye gives paramount importance to general acceptance in the scientific community. In a Frye hearing (unlike Daubert), judges perform little threshold evaluation of the reliability of scientific opinion evidence. Frye is used in many state courts.
Breakout groups agreed that genetic testing for Alzheimer's Disease would not pass either Daubert or Frye criteria because the scientific and medical communities currently consider this test unreliable for either diagnosing the disease or predicting a susceptibility to it.
Ongoing Battles: Admissibility in Criminal Cases
Judges at the Cape Cod meeting were particularly interested in one of the most powerful and controversial uses of DNA technology in the legal arena: its applicability to criminal jurisprudence, specifically for comparing the DNA found at a crime scene with that of a person suspected of the crime. David Bing and Janice Williamson (Center for Blood Research, Boston) demonstrated how forensic scientists generate DNA profiles.
In the debate over the admissibility of DNA forensic evidence, experts on both sides agree that the techniques and scientific principles underlying genetic testing for identification, called DNA profiling, are valid (see sidebar below). For years, bitter disagreement over the admissibility of DNA evidence centered on calculating the statistical probability that two people could share the same set of markers and produce the same DNA profile.
What Are the Odds? New NRC Recommendations. In an attempt to resolve this question, this spring the National Research Council (NRC) published a second set of recommendations for performing calculations, handling DNA samples, and other aspects of using DNA as a forensic tool. [The Evaluation of DNA Forensic Evidence. NRC, 1996. Orders: National Academy Press (800/624-6242 or http://www.nap.edu/info/browse.htm)] Eric Fischer (National Academy of Sciences) explained the updated recommendations of this report (called NRC2), particularly those focusing on interpretation of matching DNA profiles. Regarding the latter, NRC2 recommends use of the "product rule" (based on population-genetics principles) to calculate the probability that a match between two DNA profiles is due to chance.
In applying the product rule, scientists determine how frequently a specific marker occurs in a particular population by using databases of DNA profiles from black, Caucasian, or Hispanic populations. Individual probabilities are multiplied to obtain the overall probability that the composite profile will occur in the population. Because the reference databases are now quite large, they provide confidence that the frequencies obtained are representative of those in the actual populations.
New Focus on Quality Control. Early reaction to NRC2 recommendations has been positive [Science 272, 803-4 (May 10, 1996)]. Major critics of the first NRC report (1992) on DNA forensic technology now say the focus for concern has moved from statistical calculations to laboratory quality and accreditation. Although the NRC2 report calls for laboratory proficiency testing, it also recommends splitting DNA samples to enable the defense to verify results independently. The report also notes a need for research into jury understanding of DNA evidence.
Burden on the Court. NRC2 still places the onus for evaluating matching DNA profiles squarely on the courts. When can a DNA profile be considered "unique enough?" When the probability of a chance match is 1 out of 1000, 10,000, or even more? Some would like scientists to make this call, but the scientists say it isn't their job.
Underlying the friction rests a common misperception of scientific knowledge as a body of immutable truths. Scientists never make this claim, knowing that even the most carefully crafted and tested hypothesis can be disproven by a single example. As Joe McInerney (Biological Sciences Curriculum Study) noted, "Nature has a tendency to embarrass us when we make absolute statements." A robust system of rigorous hypothesis testing and peer review does, however, enable newfound knowledge to gain acceptance in the scientific community.
Justice Victoria Lederberg (Supreme Court of Rhode Island) questioned the concern over numbers, asking whether it is wise to seek absolute consensus from science. After all, courts have dealt with very complex material before, and judges usually have not - defined "beyond a reasonable doubt" in terms of a numerical standard. She observed that although DNA technology is new and complex, it still can be absorbed during a trial and can be helpful to the jury in making decisions. DNA tests usually are not the only evidence available, she added. Statistical probabilities affect the weight to be accorded the evidence, not its admissibility, and that weight is rightly decided by the jury.
If judges demand a consensus to facilitate their role as evidence gatekeepers, they may want to consider creating a forum similar to one used by NIH to generate a consensus on a controversial scientific or medical topic, suggested John Ferguson (NIH Medical Applications Research). His advice to judges: Review all the data and have it interpreted by independent experts who have not performed the research.
Scaling Up the Conversation
As the end of the holiday week drew near, Zweig reaffirmed the value of the Cape Cod working conversations in building the foundation needed to deliver these ideas within a conversational format to 1000 judges. He emphasized the importance of this daunting task. "We depend on science for technological power and on the courts for the power of enforcement. For civil society to endure, the courts must prevail," he said. "Helping the courts cope with the challenges and master the perturbations created by genetics is a worthy and achievable goal."
[Denise Casey, HGMIS]
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