To the Editor We 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.
Drolet BC, Brower JP. The Undiagnosed Diseases Program. JAMA. 2016;315(17):1903-1904. doi:10.1001/jama.2016.0443