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The team reports that this improved method strengthens the accuracy of heart disease risk prediction while also offering a broad framework for genetic testing.
Current genetic testing typically falls into one of three separate categories:
Despite the benefits, genetic testing remains underused.
"The biggest challenge is a workforce that isn't trained in how to use genetic testing. As polygenic risk scores become more common, our approach will become even more valuable."
"It's a very cool approach in which we are combining rare gene variants with common gene variants and then adding in non-coding genome information. To our knowledge, no one has used this comprehensive approach before, so it's really a roadmap of how to do that," said co-corresponding author Dr. Elizabeth McNally, director of the Center for Genetic Testing and a professor of medicine in the division of cardiology and of biochemistry and molecular genetics at Northwestern University Feinberg School of Medicine.
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