A research team at the Broad Institute of MIT and Harvard, Massachusetts General Hospital (MGH), and Harvard Medical School (HMS) reports a new kind of genome analysis that could identify large fractions of the population who have a much higher risk of developing serious common diseases, including coronary artery disease, breast cancer, or Type 2 diabetes.
These tests, which use information from millions of places in the genome to ascertain risk for five diseases, can flag greater likelihood of developing the potentially fatal conditions well before any symptoms appear. While the study was conducted with data from the U.K., it suggests that up to 25 million people in the U.S. may be at more than triple the normal risk for coronary artery disease, and millions more may be at similar elevated risk for the other conditions, based on genetic variation alone. The genomic information could allow physicians to focus particular attention on these individuals, perhaps enabling early interventions to prevent disease.
The research raises important questions about how this method, called polygenic risk scoring, should be further developed and used in the medical system. In addition, the authors note that the genetic tests are largely based on information from individuals of European descent, and the results underscore the need for larger studies of other ethnic groups to ensure equity. The study appears in Nature Genetics.
“We’ve known for long time that there are people out there at high risk for disease based just on their overall genetic variation,” said senior author Sekar Kathiresan, an institute member and director of the Cardiovascular Disease Initiative at the Broad Institute, as well as director of the Center for Genomic Medicine at MGH and a professor of medicine at HMS. “Now, we’re able to measure that risk using genomic data in a meaningful way. From a public health perspective, we need to identify these higher-risk segments of the population so we can provide appropriate care.”