Diagnostic Utility of Exome Sequencing for Kidney Disease

To the Editor: Groopman et al. (Jan. 10 issue)¹ report a genetic diagnostic yield of clinical exome sequencing of almost 10% in more than 3000 patients with chronic kidney disease. However, some patients already had a clinical diagnosis of a genetic disease; thus, the cause of kidney disease may be skewed, with an overrepresentation of patients with congenital or cystic kidney disease. It would be interesting to learn how many patients had undiagnosed genetic kidney disease and what the yield was among those patients. A key insight from the present study may be the diagnostic yield of clinical exome sequencing . . .