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In 2008, an Undiagnosed Diseases Program (UDP)1,2 was established within the Intramural Research Program of the National Institutes of Health (NIH). This program evaluates patients and families for whom medicine has failed to provide a diagnosis. Such patients have often spent years visiting medical centers and clinicians in different specialties across the country, accumulating large amounts of medical notes and test results, often at great emotional and financial cost. Indeed, patients who finally received a diagnosis through the UDP had spent 3 to 10 times more in physician consultation fees than consultations during their NIH evaluation (C. J. Tifft, written communication, 2015).
Gahl WA, Wise AL, Ashley EA. The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. JAMA. 2015;314(17):1797–1798. doi:10.1001/jama.2015.12249
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