Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States. Vivienne Souter et al. Circ Genom Precis Med 2024 3 e004457 (Posted Mar 21, 2024 7AM)

https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=HLBS&query=home From the abstract: "Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproductive carrier screening. This retrospective observational study included samples from female patients (aged 18–55 years) receiving a 274-gene carrier screening panel. P/LP LDLR variants were identified in 283 samples (1 in 324). No patients were identified with >1 P/LP variant. LDLR carrier frequency was higher in Asian (1 in 191 [95% CI, 1 in 142–258]) compared with White (1 in 417 [95% CI, 1 in 326–533]; P<0.001) or Black groups (1 in 508 [95% CI, 1 in 284–910]; P=0.004). "