Intended for healthcare professionals

Education And Debate

The new genetics: Psychological responses to genetic testing

BMJ 1998; 316 doi: (Published 28 February 1998) Cite this as: BMJ 1998;316:693
  1. Theresa M Marteau (, professor of health psychologya,
  2. Robert T Croyle, associate professor of psychologyb
  1. a Psychology and Genetics Research Group, United Medical and Dental Schools of Guy's and St Thomas's Hospitals, London SE1 9RT,
  2. b Department of Psychology, University of Utah, Salt Lake City, UT 84112, USA
  1. Correspondence to: Professor Marteau

    This is the second of four articles discussing the broader implications of advances in genetics

    Predicting disease on the basis of biological markers, such as serum cholesterol concentration or blood pressure, is not new; the ability to predict disease using DNA is. As the scope for genetic testing extends beyond testing for single gene disorders to testing large sections of the population for genes associated with common disorders it is important to consider what effect this will have on individuals and on society as a whole. Research into the psychological impact of genetic testing in Huntington's disease, cystic fibrosis, breast cancer, and ovarian cancer has shown that an individual's decision to undergo testing and his or her response on receiving the results are influenced by many factors. This article discusses the nature of these factors and the implication they have for the introduction of widespread genetic screening.

    Summary points

    As genetic screening becomes widespread, its psychological impact on individuals, their families, and society as a whole needs to be assessed

    The psychological impact of predictive genetic testing for Huntington's disease, breast cancer, and ovarian cancer, when offered with expert counselling before and after testing, depends more on pretest expectations, mood, and social support than the results of the test itself

    Distress associated with screening may be reduced by careful assessment before and after testing, counselling, and support

    Research is needed to determine the most effective and practical counselling strategies for the increasingly large number of people who will be offered genetic tests for treatable conditions

    The psychological impact of screening for biological markers associated with increased risk of disease has been well researched.1 Extrapolating from these findings to predict the impact of population based genetic screening of asymptomatic individuals is difficult, though—partly because the predictive value of genetic tests for some …

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