Population genomic screening leads to improved lipid management in patients with familial hypercholesterolemia

Résumé fourni par la source

Abstract Background The Helix Research Network TM program is a large population genomics initiative that screens an all-comers population of patients for CDC Tier 1 genetic conditions, including familial hypercholesterolemia (FH). We evaluated changes in clinical management and LDL cholesterol (LDL-C) levels among patients we identified to have FH. Methods Participants across eight U.S. health systems provided samples that underwent clinical-grade exome sequencing. Individuals with a positive screening result for a Tier 1 condition were offered no-cost genetic counseling through their health system. Using medication and laboratory testing records, we evaluated changes in patients’ lipid-lowering therapies and LDL-C levels. Results Among 211,263 adults enrolled between 2017-2024, 1,020 (∼1/207) had a pathogenic FH variant in LDLR (72%), APOB (27%), or PCSK9 (1%). Of the 453 with retrospective and prospective electronic health record (EHR) data available (mean of 13.6 and 2.3 years, respectively), 85% lacked a prior clinical FH diagnosis. Overall, 33% received new/modified lipid-lowering therapy within the first year, but this proportion was higher in those with a newly documented FH diagnosis code (55% vs 18% for those without documentation, p<0.001). Patients with new/modified therapies had a mean LDL-C reduction of 59 mg/dL, compared to 18 mg/dL in patients with no therapeutic change (difference=41 mg/dL, p<0.001). Conclusions Identification of patients with FH likely led to improvements in clinical management and LDL-C levels. EHR documentation of the diagnosis code was associated with greater likelihood of therapeutic modifications which, in turn, were associated with larger LDL-C reductions. Findings underscore the powerful potential of population genomic screening for promoting optimal lipid management in individuals with FH.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.