Exome sequencing can yield a genetic diagnosis in almost 10 percent of patients with chronic kidney disease (CKD), according to a study published Jan. 10 in the New England Journal of Medicine. This yield, the authors say, is similar to what is seen for other conditions for which genomic diagnostics are used and establishes CKD as the most common adult disease, aside from cancer, for which sequencing has clinical utility. "Our study shows that genetic testing can be used to personalize the diagnosis and management of kidney disease, and that nephrologists should consider incorporating it into the diagnostic workup for these patients,” says coauthor Ali Gharavi, M.D., from Columbia University in New York. Despite how common it is, the underlying mechanism of CKD remains poorly understood. Estimates show that more than 10 percent of adult cases of newly diagnosed end-stage renal disease may have an unknown diagnosis. This "diagnostic ambiguity" can negatively impact clinical management, the authors say. The researchers conducted exome sequencing and diagnostic analysis in two cohorts totaling 3,315 patients with CKD (91.6 percent were over 21 years of age and 35.6 percent were self-identified as of non-European ancestry). The sequencing examined a manually curated list of 625 […]