Quick answer: A polygenic risk score is a saliva-based genetic test (£950) that estimates your lifelong inherited risk of coronary artery disease, distinct from a standard cholesterol test or familial hypercholesterolaemia testing. It’s most useful if you have a family history of heart disease, borderline cholesterol, or want a more personalised approach to prevention — not as a general screening test for everyone.
What is a polygenic risk score?
A polygenic risk score (PRS) estimates your inherited risk of coronary artery disease by analysing many genetic variants that each contribute a small amount to risk. When combined, they provide a validated assessment of whether your genetic risk is lower, average, or higher than expected for the population.
How is this different from standard cholesterol tests?
Traditional cholesterol tests measure your current lipid levels.
A polygenic risk score assesses your lifelong inherited risk, which does not change over time.
Both are important, but they answer different questions. The PRS helps determine how aggressively cholesterol and other risk factors should be managed over the long term.
Is this the same as testing for familial hypercholesterolaemia?
No. Familial hypercholesterolaemia is caused by a single gene mutation and is relatively uncommon.
Most heart disease is polygenic, meaning it arises from the combined effect of many genes. A polygenic risk score captures this broader genetic influence and is relevant to a much larger proportion of the population.
Who is most likely to benefit from this test?
This test may be particularly helpful if you:
- Have a family history of heart disease
- Have borderline or moderately raised cholesterol
- Are unsure whether to start or intensify cholesterol-lowering treatment
- Have normal scans or tests but ongoing concern
- Want a more personalised approach to prevention
It is not intended as a general screening test for everyone.
What does the test involve?
The test requires:
- A saliva sample, collected using a home testing kit which is posted to you.
This is analysed in an accredited laboratory. Results are returned as a structured report, which I review and interpret in the context of your overall cardiovascular risk profile.
How are the results used?
The result is not used in isolation. It is considered alongside:
- Cholesterol and other blood tests
- Blood pressure
- Imaging (such as CT coronary angiography, if available)
- Family history
- Lifestyle factors
Together, these inform a personalised prevention plan.
Can the test tell me if I will have a heart attack?
No. A polygenic risk score does not predict events with certainty.
It provides information about relative inherited risk, which helps guide decisions about prevention. Lifestyle, medical treatment, and other risk factors remain critically important.
Can a low-risk score mean I don’t need treatment?
Not necessarily. A low genetic risk may be reassuring, but treatment decisions are always based on the full clinical picture. This will be discussed in detail during your consultation.
Is my genetic data kept confidential?
Yes. Your data is handled in accordance with UK data protection regulations. Results are used solely for your clinical care unless you have explicitly consented otherwise.
How much does the test cost?
The standard price is £950, which includes:
- Laboratory analysis
- Clinical interpretation in a consultation with me personally
- Integration into your cardiovascular risk assessment
Important Information & Disclaimer
Polygenic risk scoring is an adjunct to standard clinical assessment and does not replace medical history, physical examination, blood tests, imaging, or clinical judgement.
Results indicate relative genetic risk and cannot predict with certainty whether an individual will develop coronary artery disease or experience a cardiovascular event.
Decisions regarding investigations, lifestyle changes, or medical treatment are made on an individual basis following full clinical assessment and discussion.
This service is provided as part of private medical care and is not a screening programme. Genetic testing may not be appropriate for everyone.
If you have known heart disease, symptoms suggestive of heart disease, or concerns about your suitability for genetic testing, this should be discussed with a clinician before proceeding.