Ishare nielsen12/18/2023 One way to study these outcomes is to begin with the “index patient,” the first person in a family to pursue BRCA testing. Socioeconomic status independent of race has also not been extensively studied with respect to these outcomes.įamily communication of genetic test results, and subsequent genetic testing in relatives, are complex processes. The specific outcomes of communication of genetic results and family testing have not been carefully studied in non-white populations. Genetic medicine is not immune to racial and ethnic disparities ( 10, 11), with evidence that non-white race is associated with decreased use of BRCA genetic services ( 12). For example, BRCA testers are more likely to communicate genetic test results to female relatives ( 2, 9), and relatives from older generations appear more likely to pursue testing for a known family mutation than relatives from younger generations ( 6). Previous literature has identified some predictors of these outcomes. In contrast, testing for a known deleterious mutation may occur at rates as low as 30–60% of relatives, even in the setting of cost-free testing ( 6– 8). ![]() Observed rates of communication are consistently high, with 91–100% of participants reporting communication with at least one blood relative ( 2– 6). ![]() ![]() Several studies have begun to characterize communication of BRCA results within families. Since privacy laws often preclude the direct involvement of healthcare professionals ( 1), communication within the family is a necessary precursor to testing for a known deleterious mutation (“family testing”). In BRCA testing, family implications are particularly strong, given the gene’s autosomal dominant inheritance and high cancer penetrance. Genetic medicine often bears consequences beyond the patient who carries a deleterious mutation, since medical implications extend to his or her entire family.
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