Vanderbilt University Medical Center researchers have discovered a new method of searching existing electronic medical records to help identify genetic diseases in larger populations, reported EurekAlert!. Many people who may be diagnosed with conditions such as kidney failure, heart failure or a stroke, may have been misdiagnosed and really suffering from a rare genetic disease.
The researchers’ plan was to evaluate clusters of different symptoms and diseases to help them identify undiagnosed genetic diseases. Professor of Biomedical Informatics and Medicine, Josh Denny, MD, MS, said that the team got extremely excited when they established a way to look at thousands of different potential diseases in order to break down genetic variants.
The new method has allowed them to assign scores to 21,701 people. The technique looks at all these people’s individual symptoms and compares it to 1,204 genetic diseases to in order to determine a potential match.
In Science, a reputable journal, findings included 14% of patients who had kidney transplants showed genetic variants that are known to affect kidney function. This means that these patients might have been able to avoid a transplant because they might not have really needed it.
The creators of this method hope to find answers for patients who have been misdiagnosed in the past. Then they can use the newly acquired knowledge to treat those symptoms more suitably.
After conducting a few searches and analyses, researchers found 18 correlations between genetic variants and patients with high risk scores. While they were unable to identify all the associations, they were able to identify two as being related to cystic fibrosis.
What this group has discovered is significant for diagnosing genetic diseases in the future. While they are able to identify some of the genetic variants that lead to genetic disease diagnosis, many of these variants are new to the team. Much more research needs to be done, but this study will serve as a launchpad for future efforts.