The NIH Undiagnosed Diseases Program: Lessons Learned

Gahl and Tifft talk about the the National Institutes of Health's (NIH's) Undiagnosed Diseases Program, which was launched in 2008 to address an unmet need in the US health care system, ie, the diagnosis of mysterious, often multisystem diseases. A prime mover in initiating the program was the recognition by the NIH Office of Rare Diseases Research that it took one to five years to reach a proper diagnosis for 33% of patients with rare disorders and more than five years for 15% of these patients. Moreover, at least 6% of the inquiries to the Genetic and Rare Diseases Information Center were from individuals still seeking a diagnosis. A second critical motivation for establishing the program was to discover new diseases that would provide medically relevant insights into biochemistry, physiology, and cell biology.