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Limited-variant screening vs comprehensive genetic testing for familial hypercholesterolemia diagnosis

JAMA May 31, 2021

Sturm AC, Truty R, Callis TE, et al. - Researchers undertook this cross-sectional analysis to determine the number of clinically significant variants related to familial hypercholesterolemia (FH) that would be missed using an array-based, limited-variant screen vs next-generation sequencing –based comprehensive testing. Participants were 4,563 persons who were referred for FH diagnostic testing and 6,482 people who underwent next-generation sequencing of FH-related genes as a component of a proactive genetic test. According to findings, a limited-variant screen had a significantly lower detection rate (8.4%) when compared with the comprehensive diagnostic test (27%). It was concluded that most of the people at risk for FH may be falsely reassured of not having a disease-causing variant if limited-variant screens are performed, this is especially true in people of self-reported Black/African American and Hispanic ancestry.

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