Genetics

Screening for Jewish genetic disease – pro

  An important paper on screening for Jewish Genetic Diseases, with a discussion of ethical issues, a little dated but still widely cited. Download LevinGenetic DiseasesScreening  

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Warfarin (coumadin) sensitivity test – pro

Warfarin (Coumadin®) dose is sometimes difficult to adjust. The labeling for a popular formulation of warfarin was revised in August 2007 and February 2010 to include information about how the three most widely studied pharmacogenetic mutations (CYP2C9*2, CYP2C9*3, and VKORC1 -1639G>A) affect dose requirements (NDA 9-218/S-105). The Warfarin-Sensitivity test idendifies that most common mutations that affect warfarin metabolism. CYP2C9 genotype

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FAP and AFAP testing: Genetic colon cancer – pro

A small proportion of colon and rectal cancers arise in individuals who have genetic mutations. Familial Adenomatous Polyposis(FAP) and AFAP are autosomal dominant disorders with 50% risk of inheritance and about 75–80% of individuals with these conditions have an affected parent. Autosomal dominant inheritance means that an offspring of an affected individual has a 50% risk of inheriting the altered APC gene. Adenomas develop in approximately

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