Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Commentary
  • Published:

The future of genetic counselling: an international perspective

Abstract

The focus of clinical genetics, and thus genetic counselling, is forecast to expand from the diagnosis and prediction of rare, often untreatable conditions, to the prediction of common, often treatable or preventable conditions1. Whether this evolution is likely to proceed rapidly or at a pace that permits sensible integration of molecular genetic tools is unknown and a source of debate2,3. It is clear, however, that genetic discoveries will modify the way in which disease and risk are conceptualized. Here, we predict how genetic counselling, specifically for more common diseases, might be provided in the decades to come. We envisage an expansion of professional roles and expertise for many health care providers and highlight the need for counselling practices to become more evidence based. Although we support an evidentiary-based approach to the integration of genetic testing into practice, genetic advance is unlikely to occur in an orderly and standardized manner within countries, much less among different countries and health care systems4. Geneticists will become increasingly involved in professional education and policy-making regarding genetic testing and screening programs.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

References

  1. Bell, J. The new genetics: the new genetics in clinical practice. Br. Med. J. 316, 618–620 (1998).

    Article  CAS  Google Scholar 

  2. Holtzman, N.A. What is (going) to be done? in Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era 232–247 (The Johns Hopkins University Press, Baltimore, 1989).

    Google Scholar 

  3. Kinmonth, A.L., Reinhard, J., Bobrow, M. & Pauker, S. The new genetics. Implications for clinical services in Britain and the United States. Br. Med. J. 316, 767–770 (1998).

    Article  CAS  Google Scholar 

  4. Wilfond, B.S. & Nolan, K. National policy development for the clinical application of genetic diagnostic technologies. Lessons from cystic fibrosis. JAMA 270, 2948–2954 (1993).

    Article  CAS  Google Scholar 

  5. Harris, R. Genetic counselling and testing in Europe. J. R. Coll. Physicians Lond. 32, 335–338 (1998).

    CAS  PubMed  Google Scholar 

  6. Andrews, L.B., Fullarton, J.E., Holtzman, N.A. & Motulsky A.G. Personnel issues in human genetics. in Assessing Genetic Risks: Implications for Health and Social Policy 202–233 (National Academy Press, Washington DC, 1994).

    Google Scholar 

  7. Kenen, R.H. & Smith, A.C.M. Genetic counseling for the next 25 years: models for the future. J. Genet. Counsel. 4, 115–124 (1995).

    Article  CAS  Google Scholar 

  8. Skirton, H., Barnes, C., Curtis, G. & Walford-Moore, J. The role and practice of the genetic nurse: report of the AGNC Working Party. J. Med. Genet. 34, 141–147 (1997).

    Article  CAS  Google Scholar 

  9. Skirton, H. et al. Recommendations for education and training of genetic nurses and counsellors in the United Kingdom. J. Med. Genet. 35, 410–412 (1998).

    Article  CAS  Google Scholar 

  10. Farnish, S. A developing role in genetic counselling. J. Med. Genet. 25, 392–395 (1988).

    Article  CAS  Google Scholar 

  11. Wertz, D.C. & Fletcher, J.C. Medical geneticists confront ethical dilemmas: cross cultural comparisons among 18 nations. Am. J. Hum. Genet. 46, 1200–1213 (1990).

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Wertz, D.C. & Fletcher, J.C. Moral reasoning among medical geneticists in eighteen nations. Theor. Med. 10, 123–138 (1989).

    Article  CAS  Google Scholar 

  13. Wertz, D.C. & Fletcher, J.C. Ethical and social issues in prenatal sex selection: a survey of geneticists in 37 nations. Soc. Sci. Med. 46, 255–273 (1998).

    Article  CAS  Google Scholar 

  14. Mao, X. & Wertz, D.C. China's genetic services providers' attitudes towards several ethical issues: a cross-cultural survey. Clin. Genet. 52, 100–109 (1997).

    Article  CAS  Google Scholar 

  15. Harper, P.S. Genetic counselling: an introduction. in Practical Genetic Counselling 3–17 (Butterworth-Heinemann, Oxford, 1993).

    Google Scholar 

  16. Clarke, A. Is non-directive genetic counseling possible? Lancet 338, 998–1001 (1991).

    Article  CAS  Google Scholar 

  17. Bernhardt, B.A. Empirical evidence that genetic counseling is directive: where do we go from here? Am. J. Hum. Genet. 60, 17–20 (1997).

    CAS  PubMed  PubMed Central  Google Scholar 

  18. Murray, T.H. Prenatal testing and the quest for the perfect child. in The Worth of a Child 115–141 (University of California Press, Berkeley, 1996).

    Google Scholar 

  19. Clarke, A.J. The process of genetic counseling: beyond non-directiveness. in Genetics Society and Clinical Practice 179–200 (Bios Scientific Publishers, Oxford, 1997).

    Google Scholar 

  20. Wertz, D.C., Sorenson, J.R. & Heeren, T. Clients' interpretation of risks provided in genetic counseling. Am. J. Hum. Genet. 39, 253–264 (1986).

    CAS  PubMed  PubMed Central  Google Scholar 

  21. Penchaszadeh, V.B. & Beiguelman, B. Medical genetics services in Latin America: report of a meeting of experts. Rev. Panam. Salud Publica 3, 409–420 (1998).

    Article  CAS  Google Scholar 

  22. Marteau, T.M. et al. Counselling following diagnosis of fetal abnormality: a comparison between German, Portuguese and UK geneticists. Eur. J. Hum. Genet. 2, 96–102 (1994).

    Article  CAS  Google Scholar 

  23. Ad hoc Committee on Genetic Counseling. Genetic counseling. Am. J. Hum. Genet. 27, 240–242 (1975).

  24. Kessler, S. Psychological aspects of genetic counseling. IX. Teaching and counseling. J. Genet. Counsel. 6, 287–295 (1997).

    Article  CAS  Google Scholar 

  25. Kessler, S. Psychological aspects of genetic counseling. X. Advanced counseling techniques. J. Genet. Counsel. 6, 379–392 (1997).

    Article  CAS  Google Scholar 

  26. Djurdjinovic, L. Psychosocial counseling. in A Guide to Genetic Counseling 127–170 (Wiley & Liss, New York, 1998).

    Google Scholar 

  27. Matloff, E.T. Practice variability in prenatal genetic counseling. J. Genet. Counsel. 3, 215–232 (1994).

    Article  CAS  Google Scholar 

  28. Smurl, J.F. & Weaver, D.D. Presymptomatic testing for Huntington chorea: guidelines for moral and social accountability. Am. J. Med. Genet. 26, 247–257 (1987).

    Article  CAS  Google Scholar 

  29. American Society of Human Genetics Board of Directors & American College of Medical Genetics Board of Directors. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 57, 1233–1241 (1995).

  30. Clarke, A.J. The genetic testing of children. Working Party of the Clinical Genetics Society. J. Med. Genet. 31, 785–797 (1994).

    Article  CAS  Google Scholar 

  31. Wertz, D.C. & Fletcher, J.C. Attitudes of genetic counselors: a multinational survey. Am. J. Hum. Genet. 42, 592–600 (1988).

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Marymee, K. et al. Development of the critical elements of genetic evaluation and genetic counseling for genetics professionals and perinatologists in Washington state. J. Genet. Counsel. 7, 133–166 (1998).

    Article  CAS  Google Scholar 

  33. Fine, B.A., Baker, D.L. & Fiddler, M. Practice-based competencies for accreditation of and training in graduate programs in genetic counseling. J. Genet. Counsel. 5, 113–121 (1996).

    Article  CAS  Google Scholar 

  34. Sorenson, J.R. What we still don't know about genetic screening and counseling. in Gene Mapping: Using Law and Ethics as Guides (eds Annas, G.J. & Elias, S.) 203–214 (Oxford University Press, New York, 1992).

    Google Scholar 

  35. Michie, S. & Marteau, T.M. Genetic counselling: some issues of theory and practice. in The Troubled Helix (eds Marteau, T.M. & Richards, M.) 104–122 (Cambridge University Press, Cambridge, 1996).

    Chapter  Google Scholar 

  36. Sorenson, J.R., Swazy, J.P. & Scotch, N.A. Medical genetics and genetic counseling. in Reproductive Pasts Reproductive Futures: Genetic Counseling and Its Effectiveness. Birth Defects: Original Article Series, XVII (4) 131–144 (Allan R. Liss, New York, 1981).

    Google Scholar 

  37. Kessler, S. Current psychological issues in genetic counseling. J. Psychosom. Obstet. Gynaecol. 11, 5–18 (1990).

    Google Scholar 

  38. Michie, S., Bron, F., Bobrow, M. & Marteau, T.M. Non-directiveness in genetic counseling: an empirical study. Am. J. Hum. Genet. 60, 40–47 (1997).

    CAS  PubMed  PubMed Central  Google Scholar 

  39. Lowther, G.W. & Whittle, M.J. Prenatal diagnosis in the United Kingdom—an overview. Eur. J. Hum. Genet. 5 (suppl. 1), 84–89 (1997).

    PubMed  Google Scholar 

  40. Marteau, T.M., Drake, H. & Bobrow, M. Counseling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists and genetic nurses. J. Med. Genet. 31, 864–867 (1994).

    Article  CAS  Google Scholar 

  41. Press, N.A. & Browner, C.H. Why women say yes to prenatal diagnosis. Soc. Sci. Med. 45, 979–989 (1997).

    Article  CAS  Google Scholar 

  42. Bernhardt, B.A. et al. Prenatal genetic testing: content of discussions between obstetric providers and pregnant women. Obstet. Gynecol. 91, 648–655 (1998).

    CAS  PubMed  Google Scholar 

  43. Caplan, A. Neutrality is not morality: the ethics of genetic counseling. in Prescribing Our Future: Ethical Challenges in Genetics Counseling 149–165 (Aldine de Gruyter, New York,1993).

    Google Scholar 

  44. Press, N.A. & Browner, C.H. Collective fictions: similarities in reasons for accepting maternal serum α-fetoprotein screening among women of diverse ethnic and social class backgrounds. Fetal Diagn. Ther. 8, 97–106 (1993).

    Article  Google Scholar 

  45. Marteau, T.M., Kidd, J. & Plenicar, M. Obstetricians presenting amniocentesis to pregnant women: practice observed. J. Reprod. Infant Psych. 11, 3–10 (1993).

    Article  Google Scholar 

  46. Holtzman, N.A., Murphy, P.D., Watson, M.S. & Barr, P.A. Predictive genetic testing: from research to clinical practice. Science 278, 602–605 (1997).

    Article  CAS  Google Scholar 

  47. Karanjawala, Z.E. & Collins, F.S. Genetics in the context of medical practice. JAMA 280, 1533–1544 (1998).

    Article  CAS  Google Scholar 

  48. Collins, F.S. BRCA1-lots of mutations, lots of dilemmas. N. Engl. J. Med. 334, 186–188 (1996).

    Article  CAS  Google Scholar 

  49. The American Society of Clinical Oncology. Statement of the American Society of Clinical Oncology; Genetic testing for cancer susceptibility. J. Clin. Oncol. 14, 1730–1736 (1996).

  50. Calzone, K.A. Genetic predisposition testing: clinical implications for oncology nurses. Oncol. Nurs. Forum 24, 712–718 (1997).

    CAS  PubMed  Google Scholar 

  51. Kenen, R.H. Opportunities and impediments for a consolidating and expanding profession: genetic counseling in the United States. Soc. Sci. Med. 45, 1377–1386 (1997).

    Article  CAS  Google Scholar 

  52. Wertz, D.C. Society and the not-so-new genetics: what are we afraid of? Some future predictions from a social scientist. J. Contemp. Health Law Policy 13, 299–346 (1997).

    CAS  PubMed  Google Scholar 

  53. Hofman, K.J. et al. Physicians' knowledge of genetics and genetic tests. Acad. Med. 68, 625–631 (1993).

    Article  CAS  Google Scholar 

  54. Giardiello, F.M. et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N. Engl. J. Med. 336, 869–870 (1997).

    Article  Google Scholar 

  55. Hunter, A., Wright, P., Cappelli, M., Kasaboski, A. & Surh, L. Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients. Clin. Genet. 53, 447–455 (1998).

    Article  CAS  Google Scholar 

  56. Holtzman, N.A. & Hilgartner, S. Appendix 3. State of the art of genetic testing in the United States: survey of biotechnology companies and nonprofit clinical laboratories and interviews of selected organizations. in Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing created by the NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research (eds Holtzman, N.A. & Watson, M.S.) (National Institutes of Health, Bethesda, 1997).

    Google Scholar 

  57. Meissen, G.J. et al. Predictive testing for Huntington's disease with use of linked DNA marker. N. Engl. J. Med. 318, 535–542 (1988).

    Article  CAS  Google Scholar 

  58. Wertz, D.C. & Fletcher, J.C. Laboratory policies and practices for the genetic testing of children: a survey of the Helix network. Am. J. Hum. Genet. 61, 1163–1168 (1997).

    Article  CAS  Google Scholar 

  59. Bernhardt, B.A. & Pyeritz, R.E. The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting. Am. J. Hum. Genet. 44, 288–293 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  60. Bernhardt, B.A., Tumpson, J.E. & Pyertiz, R.E. The economics of clinical genetics services. IV. Fincancial impact of outpatient genetic services on an academic institution. Am. J. Hum. Genet. 50, 84–91 (1992).

    CAS  PubMed  PubMed Central  Google Scholar 

  61. Loeben, G.L., Marteau, T.M. & Wilfond, B.S. Mixed messages: presentation of information in cystic fibrosis screening pamphlets. Am. J. Hum. Genet. 63, 1181–1189 (1998).

    Article  CAS  Google Scholar 

  62. Lerman, C. et al. BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision-making and outcomes. JAMA 275, 1885–1892 (1996).

    Article  CAS  Google Scholar 

  63. Morrison, P.J. Genetic testing and insurance in the United Kingdom. Clin. Genet. 54, 375–379 (1998).

    Article  CAS  Google Scholar 

  64. Rothenberg, K.H. Genetic discrimination and health insurance: a call for legislative action. J. Am. Med. Womens Assoc. 52, 43–44 (1997).

    CAS  Google Scholar 

  65. Hughes, H.E., Alderman, J.K., Krawczak, M. & Rogers, C. Contracting for clinical genetics services: the Welsh model. J. Med. Genet. 35, 309–313 (1998).

    Article  CAS  Google Scholar 

  66. Annas, G. Generic consent for genetic screening. N. Engl. J. Med. 331, 1024 (1994).

    Article  Google Scholar 

  67. Marteau, T.M. Communicating genetic information. Br. Med. Bull. (in press).

  68. Scanlon, C. Management of genetic information: professional and ethical challenges in nursing. Crit. Care Nurse 16, 9–101 (1996).

    Google Scholar 

Download references

Acknowledgements

We thank B. Bernhardt, L. Biesecker, A. McInerney and F. Collins for their thoughtful input into early drafts this manuscript and our anonymous reviewers for constructive advice. T.M.M. is supported by the Wellcome Trust.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Barbara Bowles Biesecker.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bowles Biesecker, B., Marteau, T. The future of genetic counselling: an international perspective. Nat Genet 22, 133–137 (1999). https://doi.org/10.1038/9641

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/9641

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing