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November 4, 1998

Divining and Altering the Future: Implications From the Human Genome Project

Author Affiliations

Copyright 1998 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.1998American Medical AssociationThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

JAMA. 1998;280(17):1532. doi:10.1001/jama.280.17.1532-JMS1104-2-1

The fault, dear Brutus, is not in our stars, But in ourselves—Cassius in Shakespeare's Julius Caesar

The Human Genome Project (HGP) is methodically unraveling and extracting information from the DNA strands that constitute our genetic inheritance. One scientific endeavor to receive a boost from these data is the discovery of genes that are implicated in diseases. Identification of a gene permits the development of diagnostic tests that can reveal aberrations prior to manifestation of clinical symptoms. However, in many cases, medical treatment becomes scarce after a positive diagnosis has been made. We know, for instance, that Huntington disease is caused by expanded trinucleotide repeats in the huntingtin gene,1 yet no cures for the disease exist. What should be done in such circumstances?

We posed this question in the 1998 John Conley Ethics Essay Contest, in which medical students were asked to respond to this scenario: "Suppose you have a test that indicates a predisposition to a certain disease for which there is no treatment at the present time. How would you advise the patient?" Of the 63 submissions we received, no one claimed to have an absolute directive in this matter. Rather, they argued for an evaluation of each situation taking into account a differential array of social, technical, and economic factors.

A recurring issue in these essays concerned the uncertain legal protection patients have regarding their genetic information: how does predisposition to disease affect one's ability to obtain employment or insurance? Another theme was the questionable usefulness foreknowledge would have on the patient's psyche. The room for error inherent in a diagnostic test and in translating concepts of probability into quality patient care were additional concerns raised. Perhaps the most surprising sentiment presented in these essays was the need for physicians and patients to accept their limitations. Students urged patients to give careful thought to coming to terms with their genetic makeup and physicians to realize the limitations of health care technologies. A sensitive but thorough grasp of what can be revealed through a predictive test, followed by a similar assessment of treatment options, appeared to be a viable solution to the question posed in our contest.

For now, this even-handed but ultimately unfulfilling answer may be the only course of action available for certain diseases. However, physicians and patients should take heart in the many proactive measures stemming from HGP advances. Powerful but unfinalized tools such as gene therapy or pharmacogenomics are being developed to address genetic diseases. Perhaps these treatments will become standard remedies that obviate the scenario the contest presented. These treatments also raise new quandaries about altering an individual's genetic heritage—ostensibly to cure diseases, but inevitably to effect more cosmetic changes. Whether this situation materializes in the future remains to be seen, but perhaps in 2003, when the HGP has completed its task,2 a future John Conley Ethics Essay contest will again explore the ethical use of genetic information. This time, the question may be: "What responsibility do physicians have in modifying a patient's genetic heritage?"

Winning and other selected essays are available on the MS/JAMA Web site at http://www.ama-assn.org/msjama.
MS/JAMA congratulates the 3 winners of the 1998 John Conley Essay Contest: Hyang Nina Kim, University of California San Francisco School of Medicine; Valerie A. Jones, Columbia University College of Physicians and Surgeons; and Warren Kinghorn, Harvard Medical School. We also wish to thank this year's judges: Dr Arthur Caplan, Center for Bioethics, University of Pennsylvania; Dr Pilar Ossorio, Institute for Ethics, American Medical Association; and Dr Roger Rosenberg, Editor, Archives of Neurology.
Huntington's Disease Collaborative Research Group, A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.  Cell. 1993;72971- 983Google ScholarCrossref
National Human Genome Research Institute, Not Available. http://www.nhgri.nih.gov/news. Accessed September 30, 1998.