Genetic Counselling

Genetic counselling has evolved and matured along with the science of medical genetics. Understanding the genetic basis of thousands of diseases and our growing ability to diagnose many of them – not just in the clinic but also prenatally and even at the time of conception – has made genetic counselling increasingly complex. Graduate degree programmes in genetic counselling were developed in response to the fact that such counselling requires knowledge of medical genetics, specific counselling skills and awareness of the psychosocial and ethical dimensions of hereditary disease. Such training now exists in 17 countries. Genetic counselling entails analysing family medical histories to assess the chance of inherited disease; explaining, coordinating and interpreting genetic tests; providing information about the condition's features, treatment and inheritance; helping people make decisions about reproductive and treatment options and guiding and supporting them as they deal with the impact of the condition or risk on their life.

Key concepts:

  • Genetic counselling is the process of helping people understand and adapt to the medical, psychosocial and familial aspects of hereditary disease.
  • Genetic counsellors interpret family medical histories and use this and other information to assess the chance of a hereditary disease occurring or recurring.
  • Genetic counsellors educate clients, medical professionals and the public about inheritance, testing, management and prevention of genetic disease.
  • Modern genetic counselling is nondirective and seeks to help individuals and families in making personal health and reproductive decisions that are consonant with their goals and ethical beliefs.
  • Genetic counsellors are allied health professionals who have graduate education in medical genetics and the psychosocial and ethical aspects of genetic disease, as well as specialized training in counselling.
  • There are now genetic counselling training programmes in 17 countries across 4 continents.
  • Genetic counsellors work not only in a variety of clinical settings, but also in public health and policy; diagnostic laboratories; research; biotech, pharmaceutical and Internet companies and advocacy and other not-for-profit genetics groups.

Keywords: genetic counsellor; genetic counselling; nondirective counselling; scope of practice; genetic counsellor training

 Further Reading
    book Epstein CJ (1979) "Foreword". In: Kessler S (ed.) Genetic Counseling – Psychological Dimensions, pp. xv–xix. New York: Academic Press.
    Heimler A (1997) An oral history of the National Society of Genetic Counselors. Journal of Genetic Counseling 6: 315–336.
    Kessler S (1997) Psychological aspects of genetic counseling. XI. Nondirectiveness revisited. American Journal of Medical Genetics 72: 164–171.
    book Kessler S (1979) "The processes of communication, decision making and coping in genetic counseling". In: Kessler S (ed.) Genetic Counseling – Psychological Dimensions, pp. 35–51. New York: Academic Press.
    book Powledge T (1979) "Genetic counselors without doctorates". In: Capron AM (ed.) Genetic Counseling: Facts, Values, and Norms, vol. 15, pp. 103–112. New York: Alan R Liss.
    Resta R, Biesecker BB, Bennett RL et al. (2006) A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. Journal of Genetic Counseling 15: 77–83.
    Resta RG (1997) Eugenics and nondirectiveness in genetic counseling. Journal of Genetic Counseling 6: 255–358.
    Resta RG (2006) Defining and redefining the scope and goals of genetic counseling. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 142: 269–275.
    book Walker AP (2009) "The practice of genetic counseling". In: Uhlmann WR, Schuette JL and Yashar BM (eds) A Guide to Genetic Counselling, pp. 1–35. New Jersey: Wiley-Blackwell.
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Walker, Ann P(Dec 2009) Genetic Counselling. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005615.pub2]