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posted by Fnord666 on Friday March 23 2018, @02:21AM   Printer-friendly
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."


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  • (Score: 0) by Anonymous Coward on Friday March 23 2018, @03:07AM (1 child)

    by Anonymous Coward on Friday March 23 2018, @03:07AM (#657003)

    Wait until this kind of thing gets built in into health insurance systems like FACETS. When Trizetto gets everyone using FACETS in the cloud, it'll happen, despite HIPPA. (yes, I've worked with FACETS). There will be companies that get to crawl over the whole cloud of FACETS data looking for this kind of stuff (Amazon health insurance?).

    Having mentioned HIPAA, I had a bike accident regarding a car, so it went through the "PIP" part of my car policy. Well, not everyone in that stream of health records data flow is bound by HIPAA, as car insurance companies are not classified as health care providers...

    And you thought the state of auto-denial of claims or preauthorizations sucks today... or pre-existing conditions. Imagine getting profiled for a genetic condition you (or your doctor) were not aware you had, and the insurance company used this to determine you had a pre-existing genetic condition and thusly denied your claim or pre-authorization because of some imagined "statutes of limitations" for things like this.

  • (Score: 0) by Anonymous Coward on Friday March 23 2018, @03:11PM

    by Anonymous Coward on Friday March 23 2018, @03:11PM (#657138)

    Health insurance industry is digging its own grave with that peeking into cards: either you need them but they don't want you, or they do want you and from that you realize you are low risk and don't really need them, so they don't get any money.
    Insurance business is in its essence a gambling business. The need for an insurance exists as much as there is uncertainty. If uncertainty is banished, it is end time for insurance.

    And once no patients which need expensive procedures are insured, it is end time for high medicine, too. Small number of people belonging to both sets of "Has hard medical condition" and "Has a lot of money" won't be able to keep expensive medical research alive.

    Eugenicists will be happy, but insurers and doctors - not so much.