Genetic Testing for Lipoprotein(a) Comparable to Conventional Blood Work

Measurements of lipoprotein(a) using a genetic test are as accurate as conventional lab tests and have clinical utility for the identification and prevention of atherosclerotic cardiovascular disease, a new study suggests.

The researchers, publishing in JAMA Cardiology, conducted the observational study in a cohort of 283,540 adults recruited by UK Biobank (which itself contained information on more than 500,000 volunteers). They team derived lipoprotein(a) genetic risk scores of more than 374,099 individuals using externally divided weights with array-derived genotypes and lipoprotein(a) measures. The authors looked at the estimated associations between measured lipoprotein(a) and lipoprotein(a) genetic risk scoring with atherosclerotic cardiovascular disease incidence using Cox proportional hazard models. For determination of additional clinical utility, the team looked at protentional improvement in atherosclerotic cardiovascular disease risk discrimination by QRlSK3 and Pooled Cohort Equations among borderline and immediate-risk individuals. Mean age of the overall population was 57.6 years (54.6% female), and median follow-up time was 11.1 years.

According to the results, 5.1% of patients (15,444 individuals) developed atherosclerotic cardiovascular disease during follow-up. Lipoprotein(a) genetic risk scoring explained about 60% of variations between lipoprotein(a) measures in white/European individuals. Both lipoprotein(a) and lipoprotein(a) genetic risk scoring were linked with incident, composite atherosclerotic cardiovascular disease (P<0.001).

“Our work demonstrates that genetic risk scoring of lipoprotein(a) offers risk prediction of atherosclerotic cardiovascular disease that’s comparable to directly measured lipoprotein(a),” senior investigator Pradeep Natarajan, MD, of the Division of Cardiology and Cardiovascular Research Center at Massachusetts General Hospital, said in a news release. “We learned that genetic determinants of elevated lipoprotein(a) may help identify the most effective medication regimen for cardiovascular disease prevention.”

Another researcher pointed out that the test is in itself is as effective as a conventional laboratory genetic test.

“Our results showed that if someone already had their lipoprotein(a) measured, then the incremental predictive benefit of a genetic test is negligible,” lead author Mark Trinder, with the University of British Columbia, said of the study in a press release. “Where both findings can be useful, though, is in the case of physicians who are undecided about putting a patient with elevated lipoprotein(a) levels on medication.”

Clinical Utility of Lipoprotein(a) and LPA Genetic Risk Score in Risk Prediction of Incident Atherosclerotic Cardiovascular Disease https://t.co/AWz6RgmhYw @JAMACardio @EASCongress #EASCongress2020 @pnatarajanmd @MeralKayikcoglu @pabeda1 @skathire @atherosociety @ATHjournal pic.twitter.com/fFmH3FEKcu

— Henry Han (@HanCardiomd) October 6, 2020

Our study led by 'virtual visiting' @UBC med student @marketrinder shows that CV risk assessment with Lp(a) may be achieved with either direct measurement or an LPA GRS https://t.co/9XaYKALgC8 @JAMACardio @MGHHeartHealth @broadinstitute #EASCongress2020

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— Pradeep Natarajan (@pnatarajanmd) October 6, 2020

Check out the whole thread👇#EASCongress2020 #CardioTwitter #MedTwitter #Atherosclerosis https://t.co/H3eufJwYZN

— EAS Congress (@EASCongress) October 6, 2020

Critically important paper. Congratulations @pnatarajanmd! 😉 https://t.co/B5ezGbI8jW

— Maciej Banach (@maciejbanach) October 6, 2020