Pedigree Can Help Identify Medical Screening Needs for Healthy Individuals

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A brief family history can identify genetic and medical screening needs for an otherwise healthy person. For example, carrier testing for Tay-Sachs disease can be offered to a healthy couple of Jewish ancestry who are interested in planning a preg nancy. (Tay-Sachs disease is an autosomal recessive neurodegenerative disease leading to death usually by the age of 5 years. Approximately 1 in 30 Ashkenazi Jews carries this mutation as compared to 1 in 300 individuals of non-Ashkenazi heritage.) Serum cholesterol screening can be considered for someone with a strong family history of coronary artery disease. For a person with a significant family history of colon cancer, colonoscopy should be offered at a younger age than usual (Burke et al., 1997b). A young woman with a strong family history of breast cancer should have screening mammography (or possibly breast ultrasounds) at an earlier age than is usually recommended (Burke et al., 1997a).

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