Diagnostic Research

What exactly is a medical mystery? Any one condition of illness could be diagnosed, misdiagnosed, a missed diagnosis, undiagnosed, or perhaps something else. The National Institutes of Health (NIH) defines undiagnosed diseases as “long-standing symptoms or elusive medical conditions that have not been diagnosed despite extensive clinical evaluation.” What is now known as the Undiagnosed Diseases Network (UDN) was a research study first established by the NIH in 2008 and is now funded by the National Institute of Neurological Disorders and Stroke. Its charge is to convene experts, conduct research on human subjects at 14 US clinic locations, forge new knowledge, and “solve the most challenging medical mysteries.” UDN research subjects must apply with supporting documentation from their clinicians and health records. Fewer than half of UDN applicants are enrolled in a protocol, and, among subjects evaluated by clinician-investigators, some receive a diagnosis. This theme issue considers a range of neglected diagnostic research ethics questions and investigates ethics questions about UDN policies, practices, and public support. 

Background Sara Gironi Carnevale.