Genetic test results
| Test result | Advice to GP | Advice to patient |
|---|---|---|
| FH mutation positive | Confirms patient has FH. Refer to lipid specialist | Patient informed has FH. Will be referred to lipid specialist |
| FH mutation unclear (VUS) | Result unclear. Patient may have FH. Refer to lipid specialist for further assessment | Result unclear. May have FH. Require specialist referral and assessment |
| FH mutation negative | Patient does not have FH. Provide healthy lifestyle advice and leaflet. However, if positive family history of premature heart disease, the patient fulfils Simon Broome criteria for possible FH, as per NICE guidelines. Seek specialist advice on whether further assessment needed | Informed does not have FH. If any relative develops heart attack aged <60 years, may need specialist assessment, advised to see GP |
| FH mutation negative with polygenic result | Patient does not have FH but genetic testing indicates more likely to have raised cholesterol than general population (Box 1). Advise regular routine cardiovascular risk assessment | Informed does not have FH but is more prone to high cholesterol. Advised to see GP for routine cardiovascular health check |
FH = familial hypercholesterolaemia. NICE = National Institute for Health and Care Excellence. VUS = variant of unknown significance.