Genetic Counselling


Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. Genetic counselling educational programmes focus on mastery of basic genetics principles, knowledge of medical genetics within a wide range of medical subspecialties and expertise in counselling techniques and ethical issues related to genetic conditions. Graduate education programmes first developed in the United States, where genetic counselling is generally practised by master's prepared allied health professionals. In the past 45 years, the profession has grown to over 4000 certified genetic counsellors in the United States and Canada, with 61 graduate educational programmes in 17 countries. Models of genetic counselling and genetic counsellor education develop differently in different countries and different healthcare systems.

Key Concepts

  • Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
  • 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 specialised training in counselling techniques.
  • Genetic counsellors work in many clinical settings (e.g. perinatal genetics, cancer genetics, clinical genetics and subspecialty clinics) and in public health and policy; diagnostic laboratories; research; industry settings and advocacy and other not‐for‐profit genetics groups. Genetic counsellors' roles are expanding as they more frequently work in nonclinical settings and newer clinical settings.
  • Clinical genetic counsellors collect and assess medical information leading to a diagnosis; calculate and provide risk information; discuss options; facilitate genetic testing and provide psychosocial support and counselling to aid patients and their families to adapt to conditions with a genetic component.
  • Genetic counsellors educate clients, other medical professionals and the public about natural history, inheritance, testing, management and prevention of genetic disease.
  • In the United States and Canada, genetic counselling has developed a strong professional identity with a professional society, certification of genetic counsellors, accreditation of training programmes, a Code of Ethics, a professional journal, a national scope of practice, licensure and practice‐based competencies.
  • Genetic counselling is rapidly becoming an international profession with membership in the Transnational Alliance for Genetic Counseling of 61 graduate programmes in 17 countries across 5 continents.

Keywords: genetic counsellor; genetic counselling; genetic counsellor training; genetics education; professional development

Figure 1. Growth of membership in the National Society of Genetic Counselors.


Accreditation Council for Genetic Counseling (2016) Accredited Programs.

American Board of Genetic Counseling (2016) About ABGC. (accessed 8 June 2016).

American Society of Human Genetics (1975) Genetic counseling. American Journal of Human Genetics 27: 240–242.

Aspinwall LG, Stump TK, Taber JM, et al. (2015) Impact of melanoma genetic test reporting on perceived control over melanoma prevention. Journal of Behavioral Medicine 38 (5): 754–965.

Association of Genetic Counseling Program Directors (2016) Unpublished data.

Baty BJ (2006) An insider's view of genetic counseling. In: Jorde LB, Carey JC, Bamshad MJ and White RL (eds) Medical Genetics, 3rd edn, p. 314. St. Louis, MO: Mosby.

Berkenstadt M, Shiloh S, Barkai G, Katznelson MBM and Goldman B (1999) Perceived Personal Control (PPC): a new concept in measuring outcome of genetic counseling. American Journal of Medical Genetics 82: 53–59. DOI: 10.1002/(SICI)1096-8628(19990101)82:1<53::AID-AJMG11<3.0.CO;2-#.

Bureau of Labor Statistics (2016) Bureau of Labor Statistics, U.S. Department of Labor. Genetic Counselors. Occupational Outlook Handbook, 2016–17 Edition.‐counselors.htm (accessed 29 May 2016).

Callanan N and Redlingler‐Grosse K (2016) Time flies: an examination of genetic counselor professional development: introduction to special issue on genetic counselor development. Journal of Genetic Counseling 25: 611–616. (n.d.) Rare Disease Act of 2002 (HR 4013). Retrieved from‐congress/house‐bill/4013

Doyle DL, Awwad RI, Austin JC, et al. (2016) 2013 Review and update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling. Journal of Genetic Counseling 25 (5): 868–879.

Ferrier RA, Connolly‐Wilson M, Frizpatrick J, et al (2013) The establishment of core competencies for Canadian Genetic Counsellors: validation of practice based competencies. Journal of Genetic Counseling 22 (6): 690–706.

Fine BA, Baker DL, Fiddler MG and ABGC Consensus Development Consortium (1996) Practice‐based competencies for accreditation of and training in graduate programs in genetic counseling. Journal of Genetic Counseling 5 (3): 113–121.

Heimler A (1997) An oral history of the National Society of Genetic Counselors. Journal of Genetic Counseling 6 (3): 315–336.

Kasparian NA, Wakefield CE and Meiser B (2007) Assessment of psychosocial outcomes in genetic counseling research: an overview of available measurement scales. Journal of Genetic Counseling 16: 693–712. DOI: 10.1007/s10897-007-9111-6.

McAllister M and Dearing A (2015) Patient reported outcomes and patient empowerment in clinical genetics services. Clinical Genetics 88 (2): 114–121.

Meiser B, Irle J, Lobb E and Barlow‐Stewart K (2008) Assessment of the content and process of genetic counseling: a critical review of empirical studies. Journal of Genetic Counseling 17 (5): 434–451.

Middleton A, Hall G and Patch C (2015) Genetic counselors and genomic counseling in the United Kingdom. Molecular Genetics & Genomic Medicine 3 (2): 79–83.

Miller CE, Krautscheid P, Baldwin EE, et al. (2014) Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American Journal of Medical Genetics. Part A 164A (5): 1094–1101.

National Society of Genetic Counselors (2006) The code of ethics of the National Society of Genetic Counselors. Journal of Genetic Counseling 15 (5): 309–311.

National Society of Genetic Counselors (2007) Genetic Counselors' Scope of Practice.

National Society of Genetic Counselors (2016) Professional Status Survey.

Pan V, Yashar BM, Pothast R and Wicklund C (2016) Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs. Genetics in Medicine 18 (8): 842–849.

Paul J, Metcalfe S, Stirling L, Wilson B and Hodgson J (2015) Analyzing communication in genetic consultations—a systematic review. Patient Education and Counseling 98 (1): 15–33.

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.

Roter DL, Erby LH, Larson S and Ellington L (2007) Assessing oral literacy demand in genetic counseling dialogue: preliminary test of a conceptual framework. Social Science & Medicine 65 (7): 1442–1457.

Rutherford S, Zhang X, Atzinger C, Ruschman J and Myers MF (2014) Medical management adherence as an outcome of genetic counseling in a pediatric setting. Genetics in Medicine 16: 157–163.

Sahhar MA, Young M, Sheffield LJ and Aitken MA (2005) Educating genetic counselors in Australia: developing an international perspective. Journal of Genetic Counseling 14 (4): 283–294.

Shiloh S, Gerad L and Goldman B (2006) The facilitating roles of information provided in genetic counseling for counselees' decisions. Genetics in Medicine 8: 116–124.

Skirton H, Kerzin‐Storrar L, Barnes C, et al. (2013) Building the genetic counsellor profession in the United Kingdom: two decades of growth and development. Journal of Genetic Counseling 22: 902–906.

Transnational Alliance for Genetic Counseling (2016) Barcelona.

Veach PM, Bartels DM and LeRoy BS (2007) Coming full circle: a reciprocal‐engagement model of genetic counseling practice. Journal of Genetic Counseling 16: 713–728.

Walker A (2003) Overview of genetic counseling: history of the profession and methods of practice. In: Veach PM, LeRoy BS and Bartels DM (eds) Facilitating the Genetic Counseling Process. A Practice Manual, pp. 23–37. New York: Springer.

Yashar BM and Peterson M (2013) Introduction to the special issue on genetic counselling: a global perspective. Journal of Genetic Counseling 22: 685–687.

Further Reading

Edwards JG (2010) A transnational approach: a commentary on lost in translation: limitations of a universal approach in genetic counseling. Journal of Genetic Counseling 19: 7–8.

LeRoy BS, Veach PM and Bartels DM (2010) Genetic Counseling Practice. Advanced Concepts and Skills. Hoboken, New Jersey: Wiley‐Blackwell.

Uhlmann WR, Schuette JL and Yashar B (2011) A Guide to Genetic Counseling. Hoboken, New Jersey: Wiley‐Blackwell.

Veach PM, LeRoy BS and Bartels DM (2003) Facilitating the Genetic Counseling Process. A Practice Manual. New York: Springer‐Verlag.

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Baty, Bonnie(Dec 2016) Genetic Counselling. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005615.pub3]