| The Undiagnosed Diseases Program at the National Institutes of Health | |
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Submitted by CDR Michele Nehrebecky, USPHS and LCDR Colleen Wahl, USPHS |
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The following is a recent abstract submission containing information about an exciting program that began in May 2008 with two nurse practitioners of the Commissioned Corps of the U.S. Public Health Service as the program developers.
Nehrebecky, M. 1, Wahl, C.1, Gahl, W1. 1National Institutes of Health, Bethesda, MD |
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| The National Institutes of Health (NIH), through the National Human Genome Research Institute and the NIH Office of Rare Diseases, announced the establishment of the Undiagnosed Diseases Program (UDP) on May 19, 2008. Two USPHS nurse practitioners manage patient recruitment and other logistics for this new program. Referrals are accepted from the medical providers for patients deemed undiagnosed after an adequate workup. The NIH UDP screens arriving referrals to generate a subset of patients to be invited to the NIH for further workup and evaluation. The stated goals of the UDP include providing answers to patients with mysterious conditions that have long eluded diagnosis and advancing medical knowledge about rare and common diseases. Each patient visiting the NIH is evaluated by a custom-designed multidisciplinary team based on his or her presenting illness and the results of prior medical evaluations.
Participating specialists span the expertise of the NIH community and include rheumatology, immunology, oncology, mental health, nephrology, hematology, ophthalmology, neurology, laboratory medicine, pain and palliative care, bone disorders, endocrinology, dermatology, primary immunodeficiency, dentistry, genetics, pathology, radiology, pulmonology, cardiology, internal medicine, psychiatry, speech therapy, physical therapy, occupational therapy, physiatry, pediatrics, gastroenterology, gynecology, and hepatology. The NIH’s Clinical Center has the unique capacity to draw on new tools, such as the 1 million SNP array. Medical data collected during the evaluation are returned to the referring provider regardless of whether a definitive diagnosis was achieved during the visit. In addition to the potential for diagnosis, participating patients may benefit from additional ideas for treatment of ongoing medical problems. Data from the patient evaluations are being used to generate ideas and hypothesis for continuing medical research. Since the announcement of the program, more than 1,600 inquiries have been received regarding potential participation. Approximately 600 medical records from applicants have been received and 85 individuals have been accepted into the program. The program continues to receive approximately 10-15 new records weekly. Interested medical providers and their patients may obtain more information from the program by visiting http://rarediseases.info.nih.gov/UndiagnosedDiseases/FAQ.aspx |
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