Genomic risk score helps early prediction of heart disease

With the advances in genomic technology, researchers’ ability to predict an individual’s risk of heart disease has become more accurate. Individuals with high risk can now be potentially identified much earlier in the life, paving the way for intervention and lifestyle changes.

An international research consortium with members from the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki, and National Institute for Health and Welfare, has shown that genomic information can improve risk evaluation of coronary heart disease.

In the study published today in the European Heart Journal, researchers have developed a new risk score that predicts coronary heart disease based on more than 49 000 genetic markers.

Previous versions of the prediction algorithms have utilized some tens of genetic markers – those having the strongest effect on the risk. The study shows that the genomic prediction model that captures much larger part of the genome can, however, far more efficiently pinpoint the high-risk individuals.

Currently, the heart disease risk is typically calculated through clinical and lifestyle indicators such as blood pressure, cholesterol, and smoking.

The valuable Finnish FINRISK cohorts that are part of the THL biobank were used in the study to demonstrate that the genetic risk score is associated with cardiac disease independently of traditional clinical risk factors.

This study is the first one showing that the genetic risk score alone performs better than the traditional risk score, at least in the Finnish population, said Professor Samuli Ripatti from the University of Helsinki, one of the lead authors of the study.

The genetic and the clinical risk information are complementary. Integrating genetic information with known risk factors improved our ability to predict the risk of developing heart disease 10 years into the future, especially for people over 60 years of age, he continued.

The novel genomic risk score is now being utilized also in the GeneRISK project in Finland where up to 10,000 study participants are screened for their coronary heart disease risk and the risk information is returned back to the individuals.

Original publication:

Abraham G, Havulinna AS, Bhalala OG, Byars SG, De Livera AM, Yetukuri L, Tikkanen E, Perola M, Schunkert H, Sijbrands EJ, Palotie A, Samani NJ, Salomaa V, Ripatti S, Inouye M. Genomic prediction of coronary heart disease. European Heart Journal 2016.


More information:

Professor Samuli Ripatti

University of Helsinki

Faculty of medicine and Institute for Molecular Medicine Finland (FIMM)

tel: +358 40 567 0826 (Sari Kivikko)