Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting
Authors' conclusion
In a clinical setting, the addition of genetic information to clinical risk assessment significantly improved the identification of individuals who went on to have a major CVD event as being at high risk, especially among younger individuals.
Study context
- Population
- Individuals aged 40–74 years without known CVD attending an NHS Health Check in UK general practice (GENVASC), 2012–2020cohort of 44,141
- Participants
- 195 vs 396
- Comparison
- QRISK2 + cardiovascular disease polygenic risk score (CVD-PRS) integrated risk tool vs QRISK2 alone
- Casesn = 195
- Controlsn = 396reference
- Outcome
- Proportion of individuals who developed a major CVD event identified as high risk (QRISK2 10-year CVD risk ≥10%) at their NHS Health Check, QRISK2 + IRT vs QRISK2 alone
Methodological detailspropensity-matched controls, embedded within the UK NHS Health Check programme, 147 practices
- Propensity-matched controls
- Embedded within the UK NHS Health Check programme
- 147 practices
Main finding
As reported in the abstract
Cases identified as high risk
Odds ratio (95% CI)P value
Casesvs Controlsbeing up-classified
2.41(1.03–5.64)
P = 0.031- QRISK2 + integrated risk tool (IRT) vs QRISK2
- relative increase 11.7%; P = 1×10-4
Observational data: associations, not effects.
Further findings
Mean
| Outcome | Cases | Controls | Relative increase | P value |
|---|---|---|---|---|
| Standardised CVD-PRS | .32 | −.18 | P = 8.28×10-9 | |
| Cases identified as high risk, age 40-54 years (subgroup)QRISK2 + IRT vs QRISK2 | 47.7% | P = 0.001 |
- Cases identified as high risk, age 40-54 years (subgroup): QRISK2 26.0% (95% CI 16.5%–37.6%)
- Cases identified as high risk, age 40-54 years (subgroup): QRISK2 + IRT 38.4% (95% CI 27.2%–50.5%)
Additional cases identified by sex and ethnicity (subgroups)
- Similar increase in women as in men, and in non-white vs white ethnicity
CVD-PRS added to atherosclerotic cardiovascular disease pooled cohort equations (ASCVD-PCE) or SCORE2
- Findings similar
Original publication
Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting. Eur Heart J. Published 7 June 2024. doi:10.
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