Story perspectives

Standard Testing Fails to Identify Familial Hypercholesterolemia Risk

11/28/2025

Summary

Story summary

Mayo Clinic researchers find standard genetic screening often misses familial hypercholesterolemia.
Nearly 90% of affected individuals would not qualify for current testing based on cholesterol or family history.
This gap leads to missed opportunities for early diagnosis and treatment that could prevent severe outcomes.
The study recommends integrating genetic screening into routine care, with findings published in Circulation: Genomic and Precision Medicine.

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Story summary

Mayo Clinic researchers find standard genetic screening often misses familial hypercholesterolemia.
Nearly 90% of affected individuals would not qualify for current testing based on cholesterol or family history.
This gap leads to missed opportunities for early diagnosis and treatment that could prevent severe outcomes.
The study recommends integrating genetic screening into routine care, with findings published in Circulation: Genomic and Precision Medicine.