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Predictive model detects patients who fit historical criteria for genetic testing – News-Medical.net

Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can be identified en masse based…

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Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can be identified en masse based on routine information in electronic health records (EHRs), a research team reported today in the journal Nature Medicine.
Findings from the Vanderbilt University Medical Center study suggest that, among the patients of any sizeable health care system, there are hundreds or thousands with undiagnosed rare diseases of the sort where a genetic…

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