A genome sequencing program for novel undiagnosed diseases

The traditional approach to rare, severely disabling medical conditions frequently leaves the affected individual without a diagnosis and effective treatment. Patients with such con-ditions can remain ill and endure a “diagnostic odyssey” for years, which is not only difficult for such individuals and their family but can also be very cost inefficient. Many researchers have suggested the utility of genomic information for diag-nosing and treating such conditions, and early evidence of the successful application of whole-exome sequencing (WES) and whole-genome sequencing (WGS) for such purposes is emerg-ing.