Informed Consent in Human Genetic Research


Much genetic research involving human subjects is conducted to search for, or understand the role of, particular gene variants in maintaining health or causing disease. Concern that human subjects could suffer ‘informational’ harm owing to improper disclosure of research results to third parties has strongly influenced the consent process and the review of such studies by oversight committees.


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Holtzman NA and Watson MS (eds.) (1998) Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Baltimore, MD: Johns Hopkins University Press.

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Further Reading

American College of Medical Genetics Storage of Genetic Materials Committee (1995) Statement on storage and use of genetic materials. American Journal of Human Genetics 57: 1499–1500.

Beskow LM, Burke W, Merz JF, et al. (2001) Informed consent for population‐based research involving genetics. Journal of the American Medical Association 286: 2315–2321.

Botkin JR (2001) Protecting the privacy of family members in survey and pedigree research. Journal of the American Medical Association 285: 207–211.

Fuller BP, Ellis‐Kahn MJ and Barr PA (1999) Privacy in genetics research. Science 285: 1360–1361.

Knoppers BM and Laberge CM (1995) Research and stored tissue: persons as sources, samples as persons? Journal of the American Medical Association 274: 1806–1807.

Merz JF, Leonard DG and Miller ER (1999) IRB review and consent in human tissue research. Science 283: 1647–1648.

National Bioethics Advisory Commission (2001) Ethical and Policy Issues in Research involving Human Participants, vol. 1. Bethesda, MD: National Bioethics Advisory Commission.

Reilly PR, Boshar MF and Holtzman SH (1997) Ethical issues in genetic research: disclosure and informed consent. Nature Genetics 15: 16–20.

Rothstein MA (ed.) (1997) Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era. New Haven, CT: Yale University Press.

Weijer C and Emmanuel EJ (2000) Protecting communities in biomedical research. Science 289: 1142–1144.

Weir RF and Horton JR (1995) DNA Banking and Informed Consent, part 1. IRB 17(4): 1–4.

Web Links The Institutional Review Board – Discussion and News Forum. [A website devoted to promoting discussion about ethical issues in research with human subjects.]

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Reilly, Philip R(Jul 2006) Informed Consent in Human Genetic Research. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005175]