Why Are Polygenic Risk Scores Important?

Polygenic risk scores are are calculated using data from genome-wide association study (GWAS) summary statistics.

In polygenic risk scoring, the number of risk alleles carried by an individual are summed, and weighted by the effect size from the discovery GWAS. 

Using data from 400,000 participants in the UK's Biobank initiative, polygenic risk scoring can be used to help ID those at risk for five deadly diseases, including coronary artery disease and breast cancer.

Sekar Kathiresan explains the place of capturing polygenic risk scores in healthcare and how it can be integrated with other measures of risk.

Speaker: Dr Sekar Kathiresan, Director of the Center for Genomic Medicine, Massachusetts General Hospital and Director of the Cardiovascular Disease Initiative and Institute Member, Broad Institute.

Video credit: the Broad Institute of MIT and Harvard University.