A team of researchers at Vanderbilt (Tenn.) University Medical Center developed a way to search EHRs for genetic data that can be used to identify rare and undiagnosed genetic diseases, according to News-Medical.Net.
The study, led by Josh Denny, MD, professor of biomedical informatics and medicine and director of the Center for Precision Medicine, found that 14 percent of patients with genetic variants that affected their kidney received kidney transplants and 10 percent with another variant required liver transplants.
Those procedures could have been avoided if the patients' genetic cause had been diagnosed.
"We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease," Dr. Denny told News-Medical.Net. "Then we got really excited when we saw how we could systematize it across thousands of genetic diseases to figure out the impact of millions of genetic variants."
To develop the method, the researchers created a phenotype risk score that identifies patterns of symptoms that may be caused by an underlying genetic variant, including some genetic variants whose effects were previously unknown.
"What the phenotype risk score shows us is that if you start with specific combinations of symptoms, the chances of finding a potentially causative genetic variant are pretty high. This is a really important step to using clinical genotyping to assess patient risk and inform more precise prevention and treatment of common conditions," co-author Dan Roden, MD, senior vice president for Personalized Medicine, told News-Medical.Net.
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