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Genetic Testing: News and Plain-Language Guide
Polygenic risk scores, genetic testing for heart disease and familial hypercholesterolemia: what results can and cannot tell you.
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Get the newsletter →Genetic tests range from targeted tests for one inherited condition to scores that combine thousands of variants. We explain what each kind can and cannot tell you.
Quick answer: A polygenic risk score estimates how your genetic risk compares with other people. NHGRI and the ACMG say it is a relative risk, not a diagnosis, and it does not say when or whether a disease will happen. A targeted test for a single-gene condition such as familial hypercholesterolemia works differently.
What a polygenic risk score tells you
It adds up the small effects of many common variants and places you on a bell curve. Two people with the same score can have very different lifetime risk depending on age and other factors (NHGRI). The ACMG notes there were no clinical guidelines for its use when it published its statement.
Genetic testing for heart disease
For familial hypercholesterolemia (FH), the CDC says genetic testing can confirm a diagnosis, inform treatment, and let relatives be tested for the same change. The American Heart Association has published a scientific statement on polygenic risk scores for cardiovascular disease.
Questions to ask before testing
- What will I do differently with the result?
- Is this a single-gene test, a panel, or a polygenic score?
- Is genetic counseling included?
- Who can see my data, and can I delete it?
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Frequently asked questions
Is a polygenic risk score a diagnosis?
No. NHGRI and the ACMG describe it as a relative risk estimate, not a diagnosis.
Is there a genetic test for familial hypercholesterolemia?
Yes. The CDC says genetic testing can confirm FH and help test family members.
Is genetic testing worth it?
It depends on the test and your situation. A genetic counselor or clinician can help you decide.
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Darwi is for education only and is not medical advice. Talk with a qualified clinician about your health. Medical disclaimer.