Skip to main content

Advertisement

SpringerLink
Log in

Predictive Genetic Testing, Autonomy and Responsibility for Future Health

  • Original Paper
  • Published:
Medicine Studies

Abstract

Individual autonomy is a concept highly appreciated in modern Western societies. Its significance is reflected by the central importance and broad use of the model of informed consent in all fields of medicine. In predictive genetic testing, individual autonomy gains particular importance, for what is in focus here is not so much a concrete medical treatment but rather options for taking preventive measures and the influence that the test results have on long-term lifestyle and preferences. Based on an analysis of autonomy-related issues in predictive genetic diagnosis and genetic screening programmes, this contribution stresses the central relevance of a broad notion of autonomy for the discussion of ethical issues raised in connection with predictive genetic testing and genetic screening programmes. Only against the background of such a broad notion of autonomy, which stresses not only free and informed decision-making but also the relevance of long-term prospects for leading a self-determined life in familial and social contexts, can the manifold autonomy-related issues linked to predictive genetic testing be given adequate consideration.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Notes

  1. Undoubtedly, there are conditions such as haemochromatosis in which adequate preventive measures are available. Test results may also influence the therapeutic measures to be taken, such as is the case in certain forms of cancer. Here, the best type of treatment can be chosen depending on the genetic mutation identified.

  2. According to a group of Israeli nurses, the extent of a duty to know and to disclose test results to family members does not depend on the disease in question, however (Barnoy and Tabak 2007, pp. 280–294).

References

  • Allen, K., and R. Williamson. 1999. Should we genetically test everyone for haemochromatosis? Journal of Medical Ethics 25: 209–214.

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists & American College of Medical Genetics. 2001. Preconception and prenatal carrier screening for cystic fibrosis: Clinical and laboratory guideline. Washington, DC: American College of Obstetricians and Gynecologists.

    Google Scholar 

  • Anderson, G. 1999. Nondirectiveness in prenatal genetics: Patients read between the lines. Nursing Ethics 6: 126–136.

    Google Scholar 

  • Anderson, G. 2007. Patient decision-making for clinical genetics. Nursing Inquiry 14: 13–22.

    Article  Google Scholar 

  • Andorno, R. 2004. The right not to know: An autonomy based approach. Journal of Medical Ethics 30: 435–440.

    Article  Google Scholar 

  • Bailey, D.B., D. Skinner, A.M. Davis, I. Whitmarsh, and C. Powell. 2008. Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues. Pediatrics 121: e693–e704.

    Article  Google Scholar 

  • Ball, David., Audrey. Tyler, and Peter. Harper. 1994. Predictive testing of adults and children. In Genetic counselling: Practice and principles, ed. A. Clarke, 63–86. London: Routledge.

    Google Scholar 

  • Barnoy, S., and N. Tabak. 2007. Israeli nurses and genetic information disclosure. Nursing Ethics 14: 280–294.

    Article  Google Scholar 

  • Benn, Stanley. 1988. A theory of freedom. Cambridge: Cambridge University Press.

    Book  Google Scholar 

  • Berlin, Isaiah. 1969. ‘Two concepts of liberty. In Four essays on liberty, ed. I. Berlin, 118–172. Oxford: Oxford University Press.

    Google Scholar 

  • Burson, C.M., and K.R. Markey. 2001. Genetic counseling issues in predicitve genetic testing for familial adult-onset neurologic diseases. Seminars in Pediatric Neurology 8: 177–186.

    Article  Google Scholar 

  • Calderon-Margalit, R., and O. Paltiel. 2004. Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: A critical review of the literature. International Journal of Cancer 112: 357–364.

    Article  Google Scholar 

  • Chadwick, Ruth. 1997. The philosophy of the right to know and the right not to know. In The right to know and the right not to know, ed. R. Chadwick, M. Levitt, and D. Shickle, 13–22. Aldershot: Ashgate.

    Google Scholar 

  • Collins, F.S., and A.E. Guttmacher. 2001. Genetics moves into the medical mainstream. Journal of the American Medical Association 286: 2322–2324.

    Article  Google Scholar 

  • Council of Europe (1997) ‘Convention on human rights and biomedicine’. Available at: http://conventions.coe.int/Treaty/EN/Treaties/Html/164.htm.

  • Council on Ethical and Judicial Affairs. 1998. Multiplex genetic testing. Hastings Center Report 28(4): 15–21.

    Article  Google Scholar 

  • Davis, D.S. 1997. Genetic dilemmas and the child’s right to an open future. Hastings Center Report 27(2): 7–15.

    Article  Google Scholar 

  • Dawson, Angus., and Marcel. Verweij. 2007. Introduction: Ethics, prevention, and public health. In Ethics, Prevention, and Public Health, ed. A. Dawson, and M. Verweij, 1–12. Oxford: Oxford University Press.

    Google Scholar 

  • Dworkin, Gerald. 1988. The theory and practice of autonomy. Cambridge: Cambridge University Press.

    Book  Google Scholar 

  • Elias, S., and G.J. Annas. 1994. Generic consent for genetic screening. New England Journal of Medicine 330: 1611–1613.

    Article  Google Scholar 

  • Evers-Kiebooms, G., K. Nys, P. Harper, M. Zoeteweij, A. Dürr, G. Jacopini, C. Yapijakis, and S. Simpson. 2002. Predictive DNA-testing for Huntington’s disease and reproductive decision making: A European collaborative study. European Journal of Human Genetics 10: 167–176.

    Article  Google Scholar 

  • Faden, Ruth.R., and Tom.L. Beauchamp. 1986. A history and theory of informed consent. Oxford: Oxford University Press.

    Google Scholar 

  • Feero, W.G., A.E. Guttmacher, and F.S. Collins. 2008. The genome gets personal—almost. Journal of the American Medical Association 299: 1351–1352.

    Article  Google Scholar 

  • Feinberg, Joel. 1980. The child’s right to an open future. In Whose child? Children’s rights, parental authority, and state power, ed. W. Aiken, and H. LaFollette, 124–153. Totowa: Rowman & Littlefield.

    Google Scholar 

  • Fletcher, Joseph. 1988. The ethics of genetic control. Ending reproductive roulette. Buffalo & New York: Prometheus Books.

    Google Scholar 

  • Foster, C., D.G.R. Evans, R. Eeles, D. Eccles, S. Ashley, L. Brooks, R. Davidson, J. Mackay, P.J. Morrison, and M. Watson. 2002. Predictive testing for BCRA1/2: Attributes, risk perception and management in a multi-centre clinical cohort. British Journal of Cancer 86: 1209–1216.

    Article  Google Scholar 

  • Fulda, K.G., and K. Lykens. 2006. Ethical issues in predictive genetic testing: A public health perspective. Journal of Medical Ethics 32: 143–147.

    Article  Google Scholar 

  • Godard, B., S. Raeburn, and M. Pembrey. 2003. Genetic information and testing in insurance and employment: Technical, social and ethical issues. European Journal of Human Genetics 11(2): 123–142.

    Article  Google Scholar 

  • Hall, W.D., K.I. Morley, and J.C. Lucke. 2004. The prediction of disease risk in genomic medicine. EMBO Reports 5: S22–S26.

    Article  Google Scholar 

  • Hildt, Elisabeth. 2006. Autonomie in der biomedizinischen Ethik. Genetische Diagnostik und selbstbestimmte Lebensgestaltung. Frankfurt am Main: Campus.

    Google Scholar 

  • Hoedemaekers, R., and H. ten Have. 1998. Geneticization: The Cyprus paradigm. Journal of Medicine and Philosophy 23: 274–287.

    Article  Google Scholar 

  • Hogarth, S., G. Javitt, and D. Melzer. 2008. The current landscape for direct-to-consumer genetic testing: Legal, ethical, and policy issues. Annual Review of Genomics and Human Genetics 9: 161–182.

    Article  Google Scholar 

  • Husted, Jörgen. 1997. Autonomy and a right not to know. In The right to know and the right not to know, ed. R. Chadwick, M. Levitt, and D. Shickle, 55–68. Aldershot: Ashgate.

    Google Scholar 

  • Khoury, M.J., L.L. McCabe, and E.R.B. McCabe. 2003. Population screening in the age of genomic medicine. New England Journal of Medicine 348: 50–58.

    Article  Google Scholar 

  • Kielstein, R., and H.M. Sass. 1992. Right not to know or duty to know? Prenatal screening for polycystic renal disease. Journal of Medicine and Philosophy 17: 395–405.

    Google Scholar 

  • Laurie, G. 2004. A response to Andorno. Journal of Medical Ethics 30: 439–440.

    Article  Google Scholar 

  • Lilani, A. 2005. Ethical issues and policy analysis for genetic testing: Huntington’s disease as a paradigm for diseases with a late onset. Human Reproduction and Genetic Ethics 11(2): 28–34.

    Google Scholar 

  • Lindblad, A.N. 2001. To test or not to test: an ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington’s disorder. Clinical Genetics 60: 442–446.

    Article  Google Scholar 

  • Malm, H.M. 1999. Medical screening and the value of early detection. When unwarranted faith leads to unethical recommendations. Hastings Center Report 29(1): 26–37.

    Article  Google Scholar 

  • Marteau, T.M., and R.T. Croyle. 1998. The new genetics: Psychological responses to genetic testing. British Medical Journal 316: 693–696.

    Google Scholar 

  • McPherson, E. 2006. Genetic diagnosis and testing in clinical practice. Clinical Medicine & Research 4: 123–129.

    Article  Google Scholar 

  • Nijsingh, Niels. 2007. Informed consent and the expansion of newborn screening. In Ethics, prevention, and public health, ed. A. Dawson, and M. Verweij, 198–212. Oxford: Oxford University Press.

    Google Scholar 

  • Ossa, D.F., and A. Towse. 2004. Genetic screening, health care and the insurance industry. European Journal of Health Economics 5: 116–121.

    Google Scholar 

  • Parsons, E.P., A.J. Clarke, K. Hood, et al. 2002. Newborn screening for Duchenne muscular dystrophy: A psychosocial study. Archives of Disease in Childhood Fetal & Neonatal Edition 86: 91–95.

    Article  Google Scholar 

  • Paul, Diane.B. 1999. PKU screening: Competing agendas, converging stories. In The practices of human genetics, ed. M. Fortun, and E. Mendelsohn, 185–195. Dordrecht: Kluwer.

    Google Scholar 

  • Quante, Michael. 1997. Ethische Probleme mit dem Konzept der informierten Zustimmung im Kontext humangenetischer Beratung und Diagnostik. In Perspektiven der Humangenetik, ed. F. Petermann, S. Wiedebusch, and M. Quante, 209–227. Paderborn: Schöningh.

    Google Scholar 

  • Raz, Joseph. 1986. The morality of freedom. Oxford: Oxford University Press.

    Google Scholar 

  • Sass, H.M. 1996. Copernican challenge of genetic prediction in human medicine. Jahrbuch für Recht und Ethik 4: 67–79.

    Google Scholar 

  • Schulman, J.D., S.H. Black, A. Handyside, and W.E. Nance. 1996. Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clinical Genetics 49: 57–58.

    Article  Google Scholar 

  • Shaw, M.W. 1987. Testing for the Huntington gene—a right to know, a right not to know, or a duty to know? American Journal of Medical Genetics 26: 243–248.

    Article  Google Scholar 

  • Shickle, D., and R. Chadwick. 1994. The ethics of screening: Is ‚screeningitis’ an incurable disease? Journal of Medical Ethics 20: 12–18.

    Article  Google Scholar 

  • Stone, D.H., and S. Stewart. 1996. Screening and the new genetics; a public health perspective on the ethical debate. Journal of Public Health Medicine 18: 3–5.

    Google Scholar 

  • Tassicker, R., J. Savulescu, L. Skene, et al. 2003. Prenatal diagnosis requests for Huntington’s disease when the father is at risk and does not want to know his genetic status: Clinical, legal, and ethical viewpoints. British Medical Journal 326: 331–333.

    Article  Google Scholar 

  • Taylor, S.D. 2004. Predictive genetic test decisions for Huntington’s disease: Context, appraisal and new moral imperatives. Social Science & Medicine 58: 137–149.

    Article  Google Scholar 

  • Tibben, A. 2007. Predicitve testing for Huntington’s disease. Brain Research Bulletin 72: 165–171.

    Article  Google Scholar 

  • Tymstra, T. 1989. The imperative character of medical technology and the meaning of “anticipated decision regret”. International Journal of Technology Assessment in Health Care 5: 207–213.

    Article  Google Scholar 

  • Tymstra, T. 2007. “At least we tried everything”: About binary thinking, anticipated decision regret, and the imperative character of medical technology. Journal of Psychosomatic Obstetrics and Gynaecology 28: 131.

    Article  Google Scholar 

  • UNESCO (1997) ‘Universal Declaration on the Human Genome and Human Rights’, available at: http://portal.unesco.org/en/ev.php-URL_ID=13177&URL_DO=DO_TOPIC&URL_SECTION=201.html.

  • UNESCO (2003) ‘International Declaration on Human Genetic Data’, available at: http://portal.unesco.org/en/ev.php-URL_ID=17720&URL_DO=DO_TOPIC&URL_SECTION=201.html.

  • Wachbroit, R. 1998. The question not asked: The challenge of pleiotropic genetic tests. Kennedy Institute of Ethics Journal 8: 131–144.

    Article  Google Scholar 

  • Wear, Stephen. 1993. Informed consent—patient autonomy and physician beneficence within clinical medicine. Dordrecht: Kluwer Academic Publishers.

    Google Scholar 

  • Wilcke, J.T. 1998. Late onset genetic disease: Where ignorance is bliss, is it folly to inform relatives? British Medical Journal 317: 744–747.

    Google Scholar 

  • World Health Organization (1997) Proposed international guidelines on ethical issues in medical genetics and genetic services. Available at: http://whqlibdoc.who.int/hq/1998/WHO_HGN_GL_ETH_98.1.pdf.

Download references

Author information

Authors and Affiliations

  1. Department of Philosophy, University of Mainz, Jakob Welder-Weg 18, 55099, Mainz, Germany

    Elisabeth Hildt

Authors
  1. Elisabeth Hildt
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Elisabeth Hildt.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hildt, E. Predictive Genetic Testing, Autonomy and Responsibility for Future Health. Medicine Studies 1, 143–153 (2009). https://doi.org/10.1007/s12376-009-0017-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12376-009-0017-5

Keywords

Search

Navigation