Study Shows Genetic Testing May Help Diagnose Chronic Kidney Disease

Chronic kidney disease (CKD) affects approximately 26 million people in the United States. CKD usually develops after a patient has already battled a different illness which has placed a toll on the kidneys. The condition of the patients kidneys then gradually worsens over a period of a few months to a few years.

A new study conducted at Columbia University may lead to improved diagnosis and treatment for those living with CKD.

The study

Ali Gharavi, MD. was a co-senior author of this study. He is the chief of nephrology at the school’s College of Physicians and Surgeons. The results from the project were published in the New England Journal of Medicine.

Their study included 3,315 patients living with CKD. Of these, 3,037 were age 21 or older. 1,179 of the participants were of non-European ancestry. Exome sequencing was performed on all 3,315 patients to determine whether or not genetic testing may aid in the diagnosis of this condition.

Gharavi and his team found that 307 participants had a diagnostic variant. Of these variants, 66 were different monogenetic disorders and 39 of these were found in a single patient. 2,187 of the participants had available clinical data and 34 of these were found to have a genetic condition which was medically actionable. 

Overall, of the 3,315 participants, approximately 10% demonstrated a genetic cause of CKD. This means that genetic testing could improve the way we diagnose and manage the condition for some patients. Gharavi emphasizes that nephrologists should consider utilizing the testing within their typical diagnostic workups.

“Our study shows that genetic testing can be used to personalize the diagnosis and management of kidney disease.”

You can read more about this study and the implications it may have for CKD diagnosis here.


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