| Title | New Methods Find Undiagnosed Genetic Diseases In Electronic Health Records | |
| Date | Friday March 23 2018, @02:21AM | |
| Author | Fnord666 | |
| Topic | ||
| from the finding-needles-in-paper-haystacks dept. | ||
Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.
And now researchers at Vanderbilt University Medical Center have found a way to search genetic data in electronic health records to identify these diseases in large populations so treatments can be tailored to the actual cause of the illness.
The implications for the findings reported today in the journal Science are broad and numerous -- 14 percent of patients with genetic variants affecting the kidney had kidney transplants and 10 percent with another variant required liver transplants.
If their genetic cause had been diagnosed, those transplants might have been avoided.
"We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease," said Josh Denny, MD, MS, professor of Biomedical Informatics and Medicine and director of the Center for Precision Medicine.
"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," he said.
The new method, developed by Denny, Lisa Bastarache, MS, and a team of collaborators, creates a phenotype risk score to find patterns of symptoms that may be caused by an underlying genetic variant -- including some genetic variants whose effects were previously unknown.
[...] As genetic testing becomes more common, there is a growing need to understand the impact of genetic variants. Only a fraction of the rare genetic variants found in human beings are well understood. This study shows that looking at outcomes in electronic health records can be helpful in deciding if a variant might be disease-associated.
"Phenotype risk scoring can easily be applied in any electronic medical record system that is linked to DNA," Bastarache said. "Our work looked at only a small sample of the human genome, about 6,000 variants. The opportunity for additional discoveries using this method is huge."
| Links |
printed from SoylentNews, New Methods Find Undiagnosed Genetic Diseases In Electronic Health Records on 2024-04-19 21:45:25