"Genetic exceptionalism" in medicine: clarifying the differences between genetic and nongenetic tests

Ann Intern Med. 2003 Apr 1;138(7):571-5. doi: 10.7326/0003-4819-138-7-200304010-00013.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Ethics, Medical
  • Family
  • Genetic Predisposition to Disease* / psychology
  • Genetic Privacy*
  • Genetic Techniques* / psychology
  • Genetic Testing*
  • Humans
  • Prejudice
  • Stress, Psychological / etiology