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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: 3, Insightful) by ilPapa on Friday March 23 2018, @04:41AM (3 children)

    by ilPapa (2366) on Friday March 23 2018, @04:41AM (#657022) Journal

    Look, everybody's gotta die of something. I do not want my genetic information going anywhere by my personal family records and maybe the Maury Show.

    The thing about these "rare genetic disorders" is...they're fucking rare, OK? You probably don't have one. Go put a few hundred dollar chips on 17 Black and spin the wheel. Win or lose, you're still not getting out of this world alive.

    Whatever benefit there would be to you will be far outweighed by the benefit to some corporation that means you no damn good, so just get your annual checkup. If your doctor thinks you need a genetic test, let her order it for you.

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  • (Score: 2) by takyon on Friday March 23 2018, @05:44AM

    by takyon (881) <reversethis-{gro ... s} {ta} {noykat}> on Friday March 23 2018, @05:44AM (#657031) Journal

    and maybe the Maury Show.

    ilPapa... you are NOT the father.

    It would be nice to have nanobots that worked on everything with little or no need for personalized genomic medicine (or even a diagnosis). Maybe some of us can live another 30 or 40 years to see that realized.

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  • (Score: 2) by takyon on Friday March 23 2018, @08:18AM (1 child)

    by takyon (881) <reversethis-{gro ... s} {ta} {noykat}> on Friday March 23 2018, @08:18AM (#657051) Journal
    • (Score: 2) by ilPapa on Friday March 23 2018, @06:53PM

      by ilPapa (2366) on Friday March 23 2018, @06:53PM (#657216) Journal

      I have a feeling that once the health care/insurance industry gets hold if it, genetic testing for disease is going to cost a bundle. I'm sure it'll work great for people in Canada and European socialist countries, but in the US, you can bet the poors won't have access for a good long while.

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