July 12, 2016
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Genetic score may improve CVD risk prediction in individuals at intermediate risk

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Adding genetic risk score to phenotypic risk prediction of CVD added minimum benefit overall, but it may improve predictability in those at intermediate risk, according to data published in Heart.

Using data from seven University College-London School-Edinburgh-Bristol Consortium of prospective population studies, the researchers analyzed the effectiveness of a genetic score based on 53 single nucleotide polymorphisms associated with CHD or stroke, either on its own or in conjunction with the QRISK-2 tool consisting of several phenotypic measures. Net reclassification improvement index was used to measure the improvement in risk prediction.

According to the results, of the 11,851 participants in the seven studies analyzed, 1,444 participants developed CVD (1,054 CHD events, 390 strokes) during 10-year follow-up, with 297 fatal events. The QRISK-2 score alone had an area under the receiver operating characteristic curve of 0.635. With the addition of the genetic score, the area under the receiver operating characteristic curve was 0.623. The addition of the genetic score also improved the detection rate for 5% false-positive rate from 11.9% to 12%.

The net reclassification improvement index was 0.25% (95% CI, –1.33 to 1.83) when the genetic risk score was combined with QRISK-2 for participants with a QRISK-2 of at least 10%. The researchers estimated that applying the genetic risk score to those with a QRISK-2 score of 10% to less than 20% and prescribing statins to those with a QRISK-2 score of greater than 20% would prevent one additional event for every 462 people screened.

“At present, our results and those of others cannot support the population-wide use of [genetic risk scores] in targeting treatment, despite the modest utility in reclassifying those at intermediate risk,” the researchers wrote. – by Tracey Romero

Disclosure: The researchers report no relevant financial disclosures.