Human Genetics: Ethical Issues and Social Impact

Abstract

Although genetic testing provides information that gives some degree of control over a potentially devastating situation, restrictive test licensing and prohibitively expensive fees may deny patients' access to genetic testing services. A comparative analysis of genetic testing for breast cancer, cystic fibrosis, hereditary hemochromatosis and Canavan disease is useful to review the social, ethical and legal implications for medical care and research.

Keywords: genetic testing; gene patents; cystic fibrosis; hereditary breast cancer; hemochromatosis

Further Reading

Boyle PJ (1995) Shaping priorities in genetic medicine. Hastings Center Report 25(supplement 3): 2–8.

Caulfield TA, Burgess MM, Williams‐Jones B, et al. (2001) Providing genetic testing through the private sector: a view from Canada. Canadian Journal of Policy Research 2(3). ISSN 1492–0611. http://isuma.net/v02n03/caulfield/caulfield_e.shtml.

Coughlan A (1993) Vital research caught in patent crossfire. New Scientist 137(1857): 4–6.

Dequeker E and Cassiman JJ (1998) Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. European Journal of Human Genetics 6(2): 165–175.

Dequeker E and Cassiman JJ (2000) Genetic testing and quality control in diagnostic laboratories. Nature Genetics 25(3): 259–260.

Grody WW, Desnick RJ, Carpenter NJ and Noll WW (1998) Diversity of cystic fibrosis mutation screening practices. American Journal of Human Genetics 62: 1252–1254.

Merz JF, Kriss AG, Leonard DG and Cho MK (2002) Diagnostic testing fails the test. Nature 415(6872): 577–579.

Motulsky AG and Beutler E (2000) Population screening in hereditary haemochromatosis. Annual Review of Public Health 21: 65–79.

National Society of Genetic Counselors (1997) Predisposition genetic testing for late‐onset disorders in adults. Journal of the American Medical Association 278: 1217–1220.

Wilfond BS and Nolan K (1993) National policy development for the clinical application of genetic diagnostic technologies. Lessons from cystic fibrosis. Journal of the American Medical Association 270(24): 2948–2954.

Web Links

ASPA (aspartoacylase (aminoacylase 2, Canavan disease)); LocusID: 443. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=443

BRCA1 (breast cancer 1, early onset); LocusID: 672. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=672

CFTR (cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7)); LocusID: 1080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080

ASPA (aspartoacylase (aminoacylase 2, Canavan disease)); MIM number: 271900. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?271900

BRCA1 (breast cancer 1, early onset); MIM number: 113705. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?113705

CFTR (cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7)); MIM number: 602421. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602421

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How to Cite close
Sharpe, Neil F, and Carter, Ronald Frederick(Sep 2006) Human Genetics: Ethical Issues and Social Impact. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005649]