IBM uses AI to evaluate risk of developing genetic diseases

In a study published in the journal Nature Communications, scientists at IBM, the Broad Institute of MIT and Harvard, and health tech company Color detail evidence that the presence of genetic mutations isn't a reliable precursor to genetic diseases. They claim diseases can be so greatly influenced by other factors that the risk in carriers is sometimes as low as in that in noncarriers. The research -- which stems from a larger, three-year collaboration between IBM Research and the Broad Institute that was announced in 2019 -- aims to support clinicians leveraging data to better identify patients at serious risk for conditions like cardiovascular disease. Insights could be useful in making health care and prevention decisions, helping clinicians choose whether to recommend imaging or more drastic surgical interventions, like mastectomies. In the course of the study, an IBM-led team developed models that analyze a person's genetic risk factors, clinical health records, and biomarker data to more accurately predict the onset of conditions like heart attacks, sudden cardiac death, and atrial fibrillation.