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Program Helps Patients with Undiagnosed Diseases

An online patient application portal funded by the National Institutes of Health now is live to help diagnose patients who suffer from conditions that even skilled physicians have been unable to diagnose.

Part of the Undiagnosed Diseases Network (UDN), the portal replaces what had previously been a paper and mail application process. Patients accepted into the program are seen by researchers and physicians from an array of medical specialties.

“We have seven clinical sites that are spread across the country and to make it easier for patients we created this online application system,” says Anastasia Wise, program director of the National Human Genome Research Institute’s Division of Genomic Medicine and co-coordinator of UDN. “We want to be able to help improve the level of diagnosis and care for these patients that haven’t been able to receive a diagnosis yet.”

According to a new report from the Institute of Medicine, inaccurate or delayed diagnoses affect one in 20 patients annually, or 12 million Americans, with most people experiencing at least one diagnostic error in their lifetime—sometimes with “devastating” conse­quences.

Also See: Need to Address Diagnostic Errors is Urgent, IOM Says

However, Wise says in the case of UDN patients, these diseases are difficult for doctors to diagnose because they are rarely seen, have not previously been described, or are unrecognized forms of more common diseases.

Ultimately, the UDN Gateway portal will provide these patients with access to the nation’s leading diagnostic teams and sophisticated diagnostic tools to help them to finally get a proper diagnosis, she says, adding that historically about 25 percent of those enrolled in the program have received some level of clinical, molecular or biochemical diagnosis—though many patients remain undiagnosed.

“Sometimes even if we can’t make a diagnosis we can come up with potential treatments or therapies that might help the patients,” adds Wise. Patients accepted into the program receive a one-week medical evaluation, and often have their DNA sequenced to detect variations in genes that may underpin their disorders.

UDN is the outgrowth of the Undiagnosed Diseases Program at the NIH Clinical Center in Bethesda, Md., which was launched in 2008 and has reviewed more than 3,100 applications from patients around the world. To date, more than 750 patients have been enrolled in the program at a rate of about 150 patients per year.

Recently, six new clinical sites were added to broaden UDN’s diagnostic expertise and to expand the opportunity for patients to participate. By the summer of 2017, each new clinical site will accept about 50 patients per year.

The clinical sites include: Baylor College of Medicine, Duke Medical Center with Columbia University, Harvard Teaching Hospitals (Brigham and Women’s Hospital, Boston Children’s Hospital, Massachusetts General Hospital), Stanford Medical Center, University of California at Los Angeles Medical Center, and Vanderbilt University Medical Center.

To support these new clinical sites, two DNA sequencing facilities have been added to UDN—one at the Baylor College of Medicine, and the other at the HudsonAlpha Institute for Biotechnology in Huntsville, Ala., with Illumina in San Diego.

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