News & Analysis Welcome to the Global Village That’s why having an expansive inter- feasible for other cancer-related genes and When experts classify a variant, they con- national database with information from genes linked with other diseases. sider not only its biological consequences, people of varying ethnic backgrounds from With more widespread testing for but also its prevalence in the general popu- around the world is valuable. “The more genetic diseases on the horizon, Domchek lation and the phenotypic characteristics of times the variant is seen, the more precise said, “The more databases that we have any disease associated with it. the classification can be because you’ll have that make it easy for individuals who may “These things are really important, es- personal and family history to guide you.” not live and breathe specific genetic pecially in underrepresented minorities who changes…the better.” are tested less and have a different spec- The Upshot trum of what is ‘normal’ in genetics,” Dom- TheBRCAExchangemayshowthatthistype Yes, There’s an App chek said. Clinicians have to be careful not of data sharing—collaboration among hun- It’sfreeandisavailableforAndroidandApple to assume that these patients’ VUS are dreds of organizations worldwide to deter- devices on Google Play and the App
JAMA – American Medical Association
Published: Apr 9, 2019
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