Genetic Risk

Risk assessment of adverse genetic outcomes involves complex decision-making procedures. Human values and expert judgments of various kinds, as well as scientific and/or mathematical knowledge and technological hardware, are all implicated in the assessment process.

Keywords: cancer; population genetics; referral criteria; risk; uncertainty

 References
    Armstrong K, Essen A and Weber B (2000) Assessing the risk of breast cancer. New England Journal of Medicine 342(8): 564–571.
    Claus EB, Risch N and Thompson WD (1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. American Journal of Human Genetics 48: 232–242.
    Eccles DM, Evans DGR and Mackay J (2000) Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. Journal of Medical Genetics 37: 203–209.
    Evans JP, Skrzynia C and Burke W (2001) The complexities of predictive genetic testing. British Medical Journal 322: 1052–1056.
    McPherson K, Steel CM and Dixon JM (2000) Breast cancer – epidemiology, risk factors, and genetics. British Medical Journal 321: 624–628.
    Prior L (2001) Rationing through risk assessment in clinical genetics. Sociology of Health and Illness 23(5): 570–593.
    Skolbekken J-A (1995) The risk epidemic in medical journals. Social Science and Medicine 40: 291–305.
    Spiegelman D, Colditz GA, Hunter D, et al. (1994) Validation of the Gail et al. model for predicting individual breast cancer risk. Journal of the National Cancer Institute 86: 600–608.
    Tischkowitz M, Wheeler D, France E, et al. (2000) A comparison of methods currently used in clinical practice to estimate familial breast cancer risks. Annals of Oncology 11(4): 451–454.
    Vasen HFA, Mecklin J-P, Merakhan P and Lynch HT (1991) The international collaborative group on hereditary non-polyposis colorectal cancer. Diseases of the Colon and Rectum 34: 424–425.
 Further Reading
    book Chapman CJ (1997) Cyrillic for Pedigree Drawing. Oxford, UK: Cherwell Scientific Publishing.
    Edwards A, Hood K, Mathews E, et al. (2000) The effectiveness of one-to-one risk-communication interventions in health care. A systematic review. Medical Decision Making 20: 290–297.
    book House of Commons Select Committee on Science and Technology. (2001) Fifth Report. London, UK: Her Majesty's Stationery Office.
    Pharoah PD, Stratton JF and Mackay J (1998) Screening for breast and ovarian cancer: the relevance of family history. British Medical Bulletin 54: 823–838.
    book Unwin N, Carr S, Leeson J and Pless-Mulloli T (1997) An Introductory Study Guide to Public Health and Epidemiology Buckingham, UK: Open University Press.
 Web Links
    ePath Genetic Health http://www.genetichealth.com
    ePath Apolipoprotein E (APOE). LocusID: 348. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=348
    ePath Breast cancer 1, early onset (BRCA1). LocusID: 672. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=672
    ePath Breast cancer 2, early onset (BRCA2). LocusID: 675. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=675
    ePath Apolipoprotein E (APOE). MIM number: 107741. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?107741
    ePath Breast cancer 1, early onset (BRCA1). MIM number: 113705. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?113705
    ePath Breast cancer 2, early onset (BRCA2). MIM number: 600185. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600185
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Prior, Lindsay(Sep 2006) Genetic Risk. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005618]