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Aurora magazine

New diagnoses of genetic diseases thanks to electronic medical records

Behind some cases of heart attack, stroke, infertility and kidney disease you could hide genetic diseases still undiagnosed. Researchers at Vanderbilt University Medical Center have found a way to search for genetic data in electronic medical records. In this way it will be easier to identify the presence of genetic diseases in large sections of the population.

The discovery could have important repercussions on the choice of treatments. It is estimated that 14% of those with a genetic variant that affects the kidneys have undergone a transplant. The same is true for a 10% of people with a variant that affects the liver. If doctors had all the necessary information, it would be possible to avoid poorly useful transplants and to focus on other treatments.

The team of Professor Josh Denny searched 21,701 medical records of sets of symptoms related to certain genetic variants. He then scored a score based on his proximity to one of the 1,204 diseases taken into consideration. The higher the score, the more likely the patient would suffer from that genetic disease.

The procedure allowed researchers to isolate dozens of possible cases of undiagnosed rare diseases. Among these, they identified 18 associations between genetic variants and risk score. The discovery also provided new data regarding the nature of some inherited genetic diseases.

According to the researchers, many otherwise inexplicable problems could be related to genetic diseases. Once diagnosed the eventual pathology, finding an ad hoc treatment becomes easier. For this reason, the newly developed process could positively change the lives of many people.