Exome sequencing for chronic kidney disease diagnosis

N. Engl. J. Med. 380, 142–151 (2019)

Exome sequencing is shown to be of clinical utility for diagnosing chronic kidney disease.

TheVisualMD/Science Source

Chronic Kidney disease can be difficult to detect via conventional clinical measures, and the inability of doctors to diagnose the disease at early stages has impeded early detection and targeted interventions. Furthermore, the clinical utility of exome sequencing as a first-line diagnostic tool in many diseases has not been systematically assessed.

Researchers from the United States, United Kingdom and Sweden sequenced 3,315 individuals, of which 1,179 were of non-European ancestry, who had conditions that represented all major types of nephropathy.

The researchers found diagnostic variants in 9.3% of the patients, encompassing 66 different monogenic disorders. Notably, those that had the same genetic disorders often presented different clinical symptoms.