Researchers from the Broad Institute of MIT and Harvard have developed a new genetic test that can identify people who are at an increased risk of serious disease, long before they develop any symptoms.
The polygenic risk scoring uses information from millions of sites in the genome to determine the risk of developing five diseases, based on genetic variation alone.
The test could enable physicians to identify high-risk individuals and focus on how to prevent them from developing the diseases.
We’ve known for a long time that there are people out there at high risk for disease based just on their overall genetic variation. Now, we’re able to measure that risk using genomic data in a meaningful way… We need to identify these higher-risk segments of the population so we can provide appropriate care.”
Sekar Kathiresan, Senior Author
As reported in the journal Nature Genetics, Kathiresan and colleagues first collected data from large, genome-wide association studies and identified genetic variations that were linked to coronary artery disease, type 2 diabetes, atrial fibrillation, inflammatory bowel disease and breast cancer.
A computational algorithm was then used to combine all of the information into one single number to create a polygenic risk score for each condition.
The scoring system was then tested and validated by applying that number to the genomes of more than 400,000 individuals in the UK Biobank.
Importantly, first author Amit Khera points out that the people who had a high-risk score for coronary artery disease did not always show signs of disease risk such as raised cholesterol or high blood pressure.
If they came into my clinical practice, I wouldn’t be able to pick them out as high risk with our standard metrics. There’s a real need to identify these cases so we can target screening and treatments more effectively, and this approach gives us a potential way forward.”
Amit Khera, First Author
The team says it is time for people in the biomedical field to think about incorporating the test into clinical care.
“We envision polygenic risk scores as a way to identify people at high or low risk for a disease, perhaps as early as birth, and then use that information to target interventions — either lifestyle modifications or treatments – to prevent disease,” concludes Kathiresan.