By analyzing millions of small genetic differences across a person’s genome, researchers can calculate a polygenic risk score to estimate someone’s lifetime odds of developing a certain disease. Over the past decade, scientists have developed these risk scores for dozens of diseases, including heart disease, kidney disease, diabetes, and cancer, with the hope that patients could one day use this information to lower any heightened risk of disease. But determining whether such tests work effectively across all populations, and how they can guide clinical decision-making, has been a challenge.
Now, a team of researchers at the Broad Institute of MIT and Harvard, in collaboration with 10 academic medical centers across the US, has implemented 10 such tests for use in clinical research. In a study published today in Nature Medicine, the team outlined how they selected, optimized, and validated the tests for 10 common diseases, including heart disease, breast cancer, and type 2 diabetes. They also calibrated the tests for use in people with non-European ancestries.
Read more at Broad Institute: https://www.broadinstitute.org/news/genetic-risk-prediction-10-chronic-diseases-moves-closer-clinic