As a long-time Joslin Diabetes Center investigator, Alessandro Doria is well aware that nearly one in three patients with type 2 diabetes will suffer from clinically significant coronary artery disease. He would like to see the day when physicians like himself can accurately predict which patients are at the greatest risk before their vasculature starts to clog with dangerous plaque. Using familiar measures like blood pressure, cholesterol level, and a detailed medical history, physicians can roughly estimate a patient’s risk of disease. But soon, they may be able to refine their assessments by routinely incorporating other variables into the metric of risk—genotyped risk loci.
As the fruits of genomewide association studies continue to accumulate, Doria, who is an HMS associate professor of medicine at Joslin and an HSPH associate professor in the Department of Epidemiology, and other researchers are scrambling to put the information to use—both in the lab and in the clinic. While some researchers explore how genetic associations illuminate the molecular pathogenesis of complex diseases like coronary artery disease, others attempt to determine when and how genetic information can improve patient care directly through early identification and intervention.
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