Family History Concerns

Polygenic Risk Scores for Heart Disease: Personalising cardiovascular prevention

Over the last few years, cardiovascular prevention has been moving quietly but steadily towards a more personalised approach.

We have become very good at identifying population risk — cholesterol levels, blood pressure, smoking, diabetes, weight and fitness. These factors remain critically important. But most clinicians, and many patients, have encountered a familiar problem: people do not always behave as the risk calculators predict.

Some individuals do everything “right” and still develop heart disease early. Others carry several conventional risk factors and remain unaffected for decades. Increasingly, we understand that in many cases the missing piece is genetics.

That is why I am now offering polygenic risk score (PRS) testing for coronary artery disease through my clinic.

Why genetics matters

Most of what we routinely measure in cardiology reflects modifiable risk — lifestyle, blood tests, blood pressure. But a substantial proportion of cardiovascular risk is inherited.

This is usually not due to a single faulty gene, but to the combined effect of many small genetic variations, each nudging risk up or down slightly. Individually they are insignificant; together they can meaningfully shape someone’s lifetime risk of coronary artery disease.

Until relatively recently, there was no practical way of measuring this inherited component. Now there is.

A polygenic risk score estimates how similar your genetic profile is to that of people who developed coronary artery disease, compared with those who did not. It does not diagnose heart disease, but it provides a quantified measure of inherited susceptibility — something no routine blood test can capture.

For many people, this explains why risk can feel as though it “doesn’t quite add up”.

When might a polygenic risk score be useful?

For many patients, the challenge is not a lack of tests or information — it is uncertainty.

Common scenarios include:

• Mildly raised cholesterol in someone who otherwise lives very healthily
• A strong family history but reassuring scans or normal functional tests
• A low calculated “10-year risk” despite a sense that something is being missed
• Borderline results where it is unclear how aggressive prevention should be

Polygenic risk scores do not replace traditional risk factors, imaging, or lifestyle advice. What they do is add context.

They help explain why two people with similar cholesterol levels may have very different lifelong risks — and therefore why prevention strategies sometimes need to differ. In those with higher inherited risk, earlier or more assertive prevention can meaningfully reduce future cardiovascular events. Conversely, a lower genetic risk can offer reassurance and help avoid unnecessary treatment.

Importantly, a PRS is never interpreted in isolation. It is considered alongside cholesterol, blood pressure, family history, lifestyle, existing conditions, and any previous cardiac investigations.

A personal perspective

This topic has become personal for my own family.

At the time of writing (2026), my wife is in her mid-forties. She is active, eats well, and has none of the classic features associated with high cardiovascular risk. Recently, however, her cholesterol was unexpectedly found to be on the high side — something many people experience in mid-life. Like many, she initially felt that the implications were distant and abstract.

That changed suddenly when her father died unexpectedly from a heart attack.

As a cardiologist, I deal with heart disease every day. But when it happens in your own family, it lands very differently. It is a stark reminder of how silent coronary disease can be, and how genetics can sometimes outweigh outward appearances and lifestyle alone.

After much discussion, my wife chose to undergo a polygenic risk score — not to medicalise herself, but to gain clarity. How seriously should cholesterol be treated? How proactive should prevention be? Whatever the result, it will guide decisions in a more informed and proportionate way.

This also has implications beyond one individual. At the time of writing, our children are teenagers. Genetic risk does not change over time, but how and when it becomes relevant does. Understanding inherited risk can help inform decisions much later in life — long before symptoms develop — and, where appropriate, allow prevention to be tailored rather than reactive.

This scenario is far from unique. Many people in their forties, fifties and beyond are generally healthy, have mildly abnormal blood tests, and a family history that is easy to downplay — until patterns start to emerge.

What the test involves

Although the science behind polygenic risk scoring is complex, the patient journey is straightforward.

After an initial discussion and consent process, a home saliva testing kit is sent out. The sample is returned directly to an accredited laboratory using pre-paid packaging. No needles and no clinic visit are required.

The laboratory analyses a large panel of genetic markers and calculates a polygenic risk score using validated, large-scale genomic datasets.

When results return (typically around five weeks), I arrange a dedicated consultation — virtual or in person — to explain the findings in detail and integrate them into your overall cardiovascular risk assessment. This may inform discussions around cholesterol targets, medication, lifestyle measures, or whether additional investigations would be helpful.

This is a fully clinician-led service, not a consumer genetic test returned without medical interpretation.

Clinical expertise

Interpreting genetic risk responsibly requires specialist training and experience.

My medical research degree at the University College London focused on genetically inherited heart disease, and I now lead the Inherited Cardiac Conditions service for the whole of Dorset. This work involves the assessment and management of families with inherited cardiovascular risk, often across multiple generations.

Polygenic risk scoring sits at the intersection of genomics, prevention, and clinical cardiology. There are relatively few clinicians with specialist expertise in both inherited heart disease and day-to-day cardiovascular prevention, particularly outside major academic centres. This experience is essential to ensure results are interpreted accurately, proportionately, and in a way that genuinely informs care.

Cost and access

Polygenic risk score testing: £950

This includes:

• Home saliva testing kit
• Accredited laboratory genomic analysis
• Clinician-interpreted polygenic risk report
• A full follow-up consultation with me personally
• Integration of the result into your personalised prevention plan

Unlike cholesterol tests or scans, this is a once-in-a-lifetime test, as your genetic risk does not change.

I appreciate that this is an expensive investigation. To help make testing more accessible, 0% finance will be available, allowing the cost to be spread over time. Full details are provided before any commitment is made.

Consent and initial consultation

Polygenic risk scoring is not appropriate for everyone, and it is not intended as a screening test.

Before any testing is arranged, I offer a 15-minute virtual consultation (£50) to:

• Discuss what the test can and cannot tell you
• Explore whether it is likely to be useful in your circumstances
• Explain potential implications for you and, where relevant, family members
• Go through informed consent clearly and carefully
• Answer any questions before a decision is made

This consultation does not commit you to having the test.

If you decide to proceed, the £50 fee is deducted from the cost of testing.
If you decide instead to book a standard cardiology consultation, the £50 is deducted from that appointment fee.
If you decide not to proceed further, no additional charges apply.

You are paying for clinical advice and time, not purchasing a test.

Important boundaries

• Polygenic risk scores do not diagnose heart disease
• They do not replace conventional risk assessment or investigations
• Results are always interpreted in clinical context
• Testing is entirely optional, with no commercial pressure to proceed

As always, my aim is not to medicalise the healthy, but to use the best available evidence to prevent disease before it starts, in a way that is proportionate, personalised, and sensible.

FAQ

Q: What is a polygenic risk score (PRS)?

A: A PRS is a measure of inherited susceptibility to coronary artery disease based on many small genetic variations across the genome. It provides context for prevention decisions but does not diagnose heart disease.

Q: Is a PRS the same as a single-gene test (e.g., familial hypercholesterolaemia)?

A: No. Single-gene conditions involve a specific pathogenic variant with a large effect. A PRS reflects the combined effect of many variants, each with a small effect, to estimate overall inherited risk.

Q: Does a PRS diagnose heart disease?

A: No. It estimates inherited risk. It must be interpreted alongside cholesterol, blood pressure, lifestyle, family history and any previous investigations.

Q: Who might consider PRS testing?

A: It may be useful where there is uncertainty — for example mild or borderline cholesterol abnormalities, a family history that is difficult to interpret, reassuring investigations despite concern, or decisions about how intensive prevention should be.

Q: Who is PRS testing not for?

A: It is not intended as a general screening test for everyone, and it is not a substitute for lifestyle measures or appropriate medical assessment. Suitability depends on individual circumstances.

Q: How is the test done?

A: After a consent discussion, a home saliva kit is posted to you. You return the sample to the laboratory using pre-paid packaging. No needles or clinic visit are required.

Q: How long do results take?

A: Typically around five weeks, though this can vary. When results return, a dedicated consultation is arranged to go through the findings.

Q: Do I need to repeat the test?

A: No. Your genetic risk does not change, so it is a once-in-a-lifetime test.

Q: What happens after the result?

A: We interpret the result in context and agree a proportionate prevention plan. This may include discussion of cholesterol targets, lifestyle measures, medication, and whether further investigations are appropriate.

Q: How much does it cost and what is included?

A: The total cost is £950, including the kit, accredited laboratory analysis, clinician-interpreted report, and a full follow-up consultation with integration into your overall risk assessment.

Q: What is the £50 consultation for?

A: Before any testing, a 15-minute virtual consultation (£50) is offered to discuss suitability, explain what the test can and cannot tell you, and complete informed consent. It does not commit you to testing. If you proceed, the £50 is deducted from the testing fee (or from a standard cardiology consultation if you choose that instead).

Q: Can I spread the cost?

A: Yes. 0% finance will be available, allowing the cost to be spread over time. Full details are provided before any commitment is made.

Q: Will my result affect my children or siblings?

A: A PRS reflects inherited risk and may be relevant to family members, but the implications vary. We can discuss what (if anything) it means for relatives and when it might become relevant.