Personal genomic testing

Sylvia A. Metcalfe

“Traditionally, genetic tests have been firmly placed within a clinical context — clinicians order tests to gather information to help or confirm diagnosis of a condition in a person who is showing symptoms, to predict whether a person with a family history will develop a late-onset condition when the test results can be accurately interpreted (e.g. Huntington disease), or to identify carriers of recessive conditions in a family (e.g. cystic fibrosis).

Gene testing is also used to screen populations where there is no known family history — for example, newborn screening for a few conditions to enable early identification and treatment, and carrier status for a limited number of recessive conditions to allow reproductive options in couples either planning a pregnancy or during pregnancy …”

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