Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Ozan DikilitasAlborz SherafatiSeyedmohammad SaadatagahBenjamin A SatterfieldDavid C KochanKatherine C AndersonWendy K ChungScott J HebbringZachary M SalvatiRichard R SharpAmy C SturmRichard A GibbsRobb K RowleyEric VennerJodell E LinderLaney K JonesEmma F PerezJosh F PetersonDavid L VeenstraHeidi L RehmHana ZoukDan M RodenMarc S WilliamsTeri A ManolioIftikhar J KulloPublished in: Circulation. Genomic and precision medicine (2023)
In a multisite cohort of electronic health record-linked biobanks, monogenic FH was prevalent, penetrant, and associated with presence of CHD. Nearly half of participants with an FH-associated variant received a new diagnosis of FH and a quarter had treatment modified after return of results. These results highlight the potential utility of sequencing electronic health record-linked biobanks to detect FH.