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“Genetic Exceptionalism” in Medicine: Clarifying the Differences between Genetic and Nongenetic Tests[dhelix]

Michael J. Green, MD, MS; and Jeffrey R. Botkin, MD, MPH
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From Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania; and University of Utah School of Medicine, Salt Lake City, Utah.

Acknowledgments: The authors thank Gail Geller, Howard Markel, Barron Lerner, Peter Ubel, Rick Kodish, David Barnard, Norman Fost, Nancy D. Taylor, and several anonymous reviewers for their thoughtful comments on earlier drafts of this paper.

Grant Support: By grants from the National Cancer Institute and the National Human Genome Research Institute (5R03 CA70838 and R01CA84770).

Potential Financial Conflicts of Interest: None disclosed.

Requests for Single Reprints: Michael J. Green, MD, MS, Department of Humanities, H134, Penn State College of Medicine, Room 1743, 500 University Drive, Hershey, PA 17033.

Current Author Addresses: Dr. Green: Department of Humanities, H134, Penn State College of Medicine, Room 1743, 500 University Drive, Hershey, PA 17033.

Dr. Botkin: Department of Pediatrics, 100 North Medical Drive, Salt Lake City, UT 84113.

Ann Intern Med. 2003;138(7):571-575. doi:10.7326/0003-4819-138-7-200304010-00013
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Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such genetic exceptionalism and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.





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