Exome Sequencing Can ID Those Who Are Genotype-Positive for Familial Hypercholesterolemia

WEDNESDAY, Nov. 26, 2025 (HealthDay News) -- Exome sequencing can identify individuals who are genotype-positive for familial hypercholesterolemia (FH), according to a study published online Nov. 12 in Circulation: Genomic and Precision Medicine.N. Jewel Samadder, M.D., from the Mayo Clinic in Phoenix, and colleagues recruited participants from three geographically and racially diverse sites in the United States to examine whether germline genetic screening using exome sequencing could be used to identify individuals who were genotype-positive for FH. A total of 84,413 participants were enrolled in the study.The researchers identified 419 patients with likely pathogenic and pathogenic variants in FH genes (prevalence, 0.50 percent), which included 116 in APOB, 298 in LDLR, and five in PCSK9. Overall, 66 percent of the patients were female, mean body mass index was 27.3 kg/m2, and 12.3 percent of patients reported a history of diabetes; 39.5 and 56.7 percent of patients had hypertriglyceridemia (≥150 mg/dL) and reduced high-density lipoprotein (<50 mg/dL), respectively. Only 27.5 percent of patients were not on cholesterol-lowering medications; goal low-density lipoprotein cholesterol levels were met by 10 percent of FH carriers. A total of 22.4 percent of the cohort reported a history of coronary artery disease; nearly 90 percent of the participants were newly diagnosed FH carriers. Clinical criteria for a diagnosis were satisfied by only 30.8 percent of confirmed genetic diagnoses of FH."Our findings expose a blind spot in current national guidelines, which rely on cholesterol levels and family history to determine who should receive genetic testing," Samadder said in a statement.Several authors disclosed ties to the biopharmaceutical industry.Abstract/Full Text (subscription or payment may be required).Sign up for our weekly HealthDay newsletter

Exome Sequencing Can ID Those Who Are Genotype-Positive for Familial Hypercholesterolemia

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