RNA sequencing improves diagnostic rate for rare disease patients

Although genetic sequencing has aided the diagnosis of many genetic diseases, only about one third of children with unknown or rare genetic diseases end up with a diagnosis after exome sequencing. To help these patients, Stanley Nelson, professor of human genetics at the David Geffen School of Medicine at UCLA, wanted to explore the genome more effectively. In a recent publication in GIM, Dr. Nelson and team show RNA sequencing helped to solve an additional 15% of cases that genome sequencing alone couldn't. On this month's podcast, Dr. Nelson and host Cynthia Graber discuss how transcriptome sequencing may be able to shorten the diagnostic odyssey for some rare disease patients and whether insurance companies should pay for the testing. Related link - https://www.nature.com/articles/s41436-019-0672-1