Genetic screening of children for familial hypercholesterolaemia: the VRONI study.
Schmieder, Raphael S RS; Schlieben, Lea D LD; Amosov, Artem A; et al.
In the VRONI study, paediatricians in Bavaria offered biochemical screening (fingertip blood LDL-C) to children aged ~5–15 years and performed targeted variant panel testing and gene sequencing for those with LDL‑C ≥3.36 mmol/L. Among 25,431 children screened, sequencing identified FH‑causing variants across LDL‑C strata and yielded a high observed prevalence that, after adjustment for ascertainment bias, predicted a population prevalence of ~1 in 163; the authors conclude biochemical screening effectively selects children for genetic testing and that gene sequencing outperforms focused variant panels.