Archive · 13 Dec 2025
Expanded Genetic Screening Could Save Millions From Heart Risk
Doctors found that most people with a genetic condition called FH, which causes very high cholesterol, are not found by regular tests.
This condition can lead to heart problems early in life.
The study showed that using DNA tests on many people found lots of cases that regular tests missed.
If we test more people for this condition, we can treat them earlier and maybe save lives.
The condition is common and can cause heart attacks in younger people if not treated.
The doctors think we should do these tests more often, like we do for blood pressure.
Standard genetic testing misses 90% of individuals with familial hypercholesterolemia (FH).
FH is a hereditary disorder that increases cholesterol levels from birth, leading to premature heart disease.
The study found that 75% of identified FH cases wouldn't have qualified for testing under current guidelines.
Expanded genetic screening could help detect FH early, reducing the incidence of severe cardiovascular events.
Researchers advocate for shifting genetic screening to primary care settings for broader access.
- Who
- Researchers from Mayo Clinic
- What
- Study on expanded genetic screening for familial hypercholesterolemia (FH)
- When
- Not specified
- Where
- Mayo Clinic campuses in Arizona, Florida, and Minnesota
- Why
- To detect and prevent heart disease caused by FH
- Condition
- Familial hypercholesterolemia (FH)
- Prevalence
- 1 in 200 to 250 individuals
- Global CVD Deaths (2022)
- 19.8 million
- Study Participants
- 84,000
- FH Cases Identified
- 419
- Missed by Current Guidelines
- 75%
- Study Journal
- Circulation: Genomic and Precision Medicine