The Undiagnosed Diseases Program.

Abstract

EnglishWe have some concerns and questions related to the Undiagnosed Diseases Program (UDP) described by Dr Gahl and colleagues.1 The stated purpose of this program was to evaluate “patients and families for whom medicine has failed to provide a diagnosis.”1 However, it is not clear that this program is meeting the intended goals. Despite a significant investment of time and money, many patients remain undiagnosed because of long wait times, limited program accessibility, and low diagnostic output. EnglishDrs Drolet and Brower question the value of diagnosis and discovery as promoted by the UDP. Not only has the NIH supported this initiative, but the evaluation of desperate patients seeking a diagnosis has been embraced by members of Congress, hundreds of patients, numerous advocacy groups, and the press. Several centers have begun their own undiagnosed diseases programs without federal funding, and there is strong international interest, with the establishment of the Undiagnosed Diseases Network (UDN) International.1 Demand for the UDP greatly exceeded capacity, which is why the program was extended nationally to improve patient accessibility, with 7 clinical sites across the United States and a streamlined online application process through the UDN Gateway. Long wait times and relatively low diagnostic yield are intrinsic elements of the diseases under investigation; the delays have to do with obtaining records from previous investigations, and the diagnostic output reflects the fact that these exquisitely selected cases have already been evaluated at tertiary medical centers.