U.S. agency taps medical centers to investigate rare diseases

CHICAGO, July 1 Tue Jul 1, 2014 12:44pm EDT

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CHICAGO, July 1 (Reuters) - The U.S. government's leading health research agency said on Tuesday it has selected six U.S. academic medical centers to help discover the cause of undiagnosed diseases using advanced diagnostic tools, including gene sequencing.

The National Institutes of Health (NIH) said the six centers will expand the work of a pilot program at the NIH Clinical Center in Bethesda, Maryland, that for the past six years has evaluated hundreds of patients and provided many diagnoses, often using genomic approaches, for rare conditions.

Together, the centers will form the NIH Undiagnosed Diseases Network, funded by a four-year, $43 million grant from the NIH Common Fund.

Dr Eric Green, director of the National Human Genome Research Institute, part of the NIH, said in a telephone briefing the sites will focus on "very rare" diseases, those which in some cases affect only 50 people in the world.

The academic centers selected to participate include Baylor College of Medicine, Houston; Harvard University's three teaching hospitals: Boston Children's, Brigham and Women's and Massachusetts General; Duke University in Durham, North Carolina; Stanford University in Stanford, California; University of California, Los Angeles; and Vanderbilt University Medical Center in Nashville.

Green said the centers will use newly developed methods for genome sequencing, along with clinical evaluations, to decipher the causes of rare, undiagnosed conditions.

Undiagnosed diseases are conditions that even skilled physicians cannot diagnose despite extensive testing. Although each disease is considered rare, as many as 30 million Americans have a rare disease, which collectively affects about 1 in 10 Americans.

Insurance coverage of genomic testing to discover the cause of rare disease has become a growing issue at some academic medical centers, including Baylor, that have been using the technology to help doctors diagnose rare disease.

The NIH said that while each site may have different approaches for handling health insurance coverage, no patient will be turned away from participating based on lack of insurance.

Researchers in the program will share genomic data from the patients enrolled in the centers in multiple public databases, expanding the knowledge of genes that can cause rare disease, which insurance companies have cited as a barrier to coverage.

Harvard University will serve as the coordinating site for the network. (Reporting by Julie Steenhuysen; editing by Andrew Hay)

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