ISTOCK, FOTOHUNTERSequencing the coding portions of people’s genomes could improve medicine’s ability to identify genetic disorders, according to two independent papers published in JAMA this week (October 18).
“[The studies] provide compelling evidence for the ability of exome sequencing to establish a molecular diagnosis,” the University of North Carolina, Chapel Hill’s Jonathan Berg wrote in an editorial accompanying the works.
In one paper, researchers from the University of California, Los Angeles, David Geffen School of Medicine showed that in a sample of 814 patients with suspected but undiagnosed genetic conditions who had their exomes sequenced recently, the overall molecular diagnosis rate was 26 percent. The diagnosis rate was higher for patients whose family members were also sequenced.
Separately, a team led by investigators at the Baylor College of Medicine in Houston, Texas, reported in a larger sample—2,000 patients whose exomes were also sequenced in the last few years—a molecular diagnosis rate of 25 ...
