What Can 23andMe Results Tell You About Your Cholesterol-Related Risks?

By Eleanor Griffith, MS, CGC · Mar 2019

23andMe recently added variants related to Familial Hypercholesterolemia (FH) to its Genetic Health Risk Report. For most people — once again — the results won't tell them too much.

What Is FH and Who Has It?

For most people, high cholesterol involves polygenic risk spread across many genes. But for about 1 in 250 individuals, high LDL cholesterol is tied to a mutation in a specific gene (APOB, LDLR, or PCSK9) — this is Familial Hypercholesterolemia. FH is a CDC Public Health Genomics priority, and an estimated 90% of individuals who have it are undiagnosed. A family history of heart attacks or strokes, especially at a young age, is a key warning sign.

What 23andMe Tests — and What It Misses

23andMe reports on 24 of the more than 2,000 known FH-related mutations. A positive result is genuinely valuable. But a negative result does not rule out FH if you have a significant personal or family history of high cholesterol — more comprehensive clinical testing should still be considered. FH is typically inherited in an autosomal dominant pattern: one mutation in one copy of a gene is enough to cause the condition, and each pregnancy carries a 50% chance of passing it on.