DNA sequencing could identify an individual’s risk for kidney disease and could influence treatment for patients with chronic kidney disease, according to results of a recently published study from researchers at Columbia University Medical Center.

“Because CKD is usually silent in the early stages, it may not be detected until an individual develops severe kidney problems,” Ali G. Gharavi, MD, professor of medicine and chief of the division of nephrology at Columbia University Medical Center, said in a press release. “In this study, we hypothesized that genomic testing would help us answer these questions, without sending patients on a time-consuming and often frustrating diagnostic odyssey.”

For each patient in the study, the research team performed whole exome sequencing, which is a technique used to analyze DNA from the protein-coding portion of the genome. More than half of the 92 patients had a family history of kidney problems.

The analysis yielded a diagnosis of kidney disease in 22 participants, which encompassed 13 different genetic disorders syndromes. In 13 patients, including nine in whom the cause of kidney failure was unknown, the genetic data either explained the original clinical diagnosis or prompted frank reclassification of the patient’s disease.

“In many cases, these discoveries had an immediate and direct impact on clinical decision-making,” Gharavi said. “Information from our analysis helped us determine the mode of inheritance, decide which family members should be screened to achieve an earlier diagnosis, and select appropriate related donors for kidney transplantation.”

The authors said the findings warranted further study as the small number of patients made it difficult to draw conclusions.

“Our study, though small, demonstrates that whole exome sequencing may offer real clinical value in diagnosing and managing patients with kidney disease, especially those with a family history of kidney problems or those with an unknown cause of disease,” Gharavi said. “Additional studies, in larger and more diverse patient populations, could help better define which categories of patients would benefit most from genomic sequencing in their clinical workup for kidney disease.” – by NN&I Staff


Lata S, et al. Ann Intern Med. 2017;doi:10.7326/M17-1319.



Disclosures: The authors report no relevant financial disclosures.