Multiple efforts are expanding the focus of sequencing, particularly whole-genome sequencing (WGS), for improving diagnosis of rare diseases. Likened to finding the proverbial needle in a haystack, identification of a single, rare, disease-causing mutation can bring families some semblance of closure—a genetic cause for the condition, if not a treatment option. Families and medical experts are hopeful that a spate of recent announcements expanding access to sequencing-based evaluations for rare and undiagnosed diseases can bring an end to years of unfulfilled diagnostic odysseys. In the United States, it has been estimated that 30 million people suffer from a rare disorder. Seven additional clinical sites (Baylor College of Medicine, Duke Medical Center, Columbia University, Harvard teaching hospitals, Stanford Medical Center, University of California at Los Angeles Medical Center, and Vanderbilt University) have been added to the original Undiagnosed Diseases Program (UDP) at the National Institutes of Health’s Clinical Center in Bethesda, Md. in mid-September. The NIH plans on using $145 million in Common Fund support over the next seven years for the expanded Undiagnosed Diseases Network (UDN). All applications for evaluation within the network will go through an online patient application portal, rather than through each individual clinical site. Sequencing will […]