Collaborating centers will provide patient data gleaned from two dozen diverse cohorts and biobanks, together with linked electronic health records that capture a diagnosis of cardiovascular disease, along with its risk factors and outcomes.
“A lot of these large studies have already done genotypes and sequencing,” Kooperberg said. “It’s merging the data from various cohorts.”
Hutch researchers will then use a machine learning approach to analyze the data, then develop polygenic risk scores for cardiovascular disease-associated traits in racially/ethnically diverse populations, validating those scores against real patient data and outcomes.
“There are millions and millions of genetic variations in the genome and many of them may slightly increase risk for cardiovascular disease,” Peters said. “A few carry larger risk, many more carry small risk. When you bring them all together, you can start building risk scores that have sufficient predictive power.”
Peters said many of the variants may still be unidentified, but with machine learning approaches “even if you don’t have them identified, we can use all the genetic information and give them some predictive weight.”
With this approach, she said, “we can improve the prediction and develop the best-performing polygenic risk score.”
A close, collaborative family
Once the risk scores are validated, the researchers will begin the process of creating infrastructure and best practices to disseminate this information out to clinics.
The PAGE group, which Kooperberg termed “a close, collaborative family,” has been working on genetic research for populations of diverse ancestry since its formation in 2008.
“We recognized early on that a lot of the emphasis in genome-wide association studies was on people of European ancestry, and that didn’t seem right,” he said. “When you’re testing 100 samples to see if a technology works, you use the samples you have access to, but we are well past that point now.”
Kooperberg said he hopes their work will help reduce the health disparities that exist in diverse populations. He also said he’s thrilled to see the PAGE consortium’s vision finally come to fruition.
“We are a little bit ahead of the curve, but not far ahead,” he said. “But this is exciting. This is good. We’re making progress and I’m confident we’ll continue to make progress.”