GenomeWeb
Andrea Anderson
April 7, 2017
Members of a large research consortium are reaching genetic diagnoses for a significant proportion of individuals with rare, undiagnosed diseases who were previously denied insurance coverage or reimbursement for such tests.
At the annual meeting of the American College of Medical Genetics and Genomics, held in Phoenix last month, Stanford University researcher Matthew Wheeler presented preliminary findings from a retrospective analysis of research exomes generated for the Undiagnosed Diseases Network (UDN). The group included dozens of individuals who had been recommended for clinical exome sequencing, but had been unable to get the tests. So far, the UDN team has uncovered pathogenic or likely pathogenic mutations in almost 28 percent of those individuals.