“Exome sequencing in a cohort of over 3,000 patients demonstrated genetic causes of chronic kidney disease in about 10% of cases and genetic testing may aid in the treatment of these patients”.
The study, which was conducted with funds by the National Institutes of Health (NIH) and others, incorporated 3,307 patients over the age of 21, and 1,179 (35.6%) were of self-identified non-European ancestry. They “detected diagnostic variants in 307 of the 3,315 patients (9.3%), encompassing 66 different monogenic disorders. Of the disorders detected, 39 (59%) were found in only a single patient. Diagnostic variants were detected across all clinically defined categories, including congenital or cystic renal disease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of 281 patients [17.1%]). Of the 2,187 patients assessed, 34 (1.6%) had genetic findings for medically actionable disorders that, although unrelated to their nephropathy, would also lead to subspecialty referral and inform renal management”.
“Exome sequencing in a cohort of over 3,000 patients demonstrated genetic causes of chronic kidney disease in about 10% of cases and genetic testing may aid in the treatment of these patients”.
The study, which was conducted with funds by the National Institutes of Health (NIH) and others, incorporated 3,307 patients over the age of 21, and 1,179 (35.6%) were of self-identified non-European ancestry. They “detected diagnostic variants in 307 of the 3,315 patients (9.3%), encompassing 66 different monogenic disorders. Of the disorders detected, 39 (59%) were found in only a single patient. Diagnostic variants were detected across all clinically defined categories, including congenital or cystic renal disease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of 281 patients [17.1%]). Of the 2,187 patients assessed, 34 (1.6%) had genetic findings for medically actionable disorders that, although unrelated to their nephropathy, would also lead to subspecialty referral and inform renal management”.
The study, published by The New England Journal of Medicine, suggests that genetic testing may prove a useful tool in treating patients as a predictor of chronic kidney disease.
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