Renal Genetic Testing to Diagnose and Manage CKD

Genetic testing is increasingly being used to diagnose and manage patients with chronic kidney disease (CKD). Genetic information also has implications for family planning and biological relatives. Renal genetic testing throughout an individual’s lifespan has broad applicability, giving internal medicine physicians a potentially important tool in their practice.

During a virtual poster session at the NKF 2021 Spring Clinical Meetings, Stacy Chronister, DO, and colleagues described early experiences implementing a clinically available renal genetic testing consisting of 382 genes in an internal medicine clinic in Oklahoma. The poster was titled Early Experiences with Renal Genetic Testing in an Internal Medicine Clinic.

The researchers conducted a retrospective analysis of the results from renal genetic testing on six patients who were tested between May and October 2020. The patients ranged from 26 to 54 years of age.

Testing was ordered for indications that included CKD with or without other health concerns (n=3), reproductive purposes (n=2), and immunodeficiency concerns (n=1). Of the six patients, three were negative, and the other three had at least one genetic finding. The three patients had heterozygous variants identified in four genes: PKDH1, ALG1, HNF4A, and CD2AP.

Variants in PKDH1 and ALG1 were associated with an unaffected carrier status for autosomal recessive polycystic kidney disease and congenital disorder of glycosylation, type 1K, respectively. There was an association between the HNF4A variant and a diagnosis of Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, type 1. The CD2AP variant was associated with a potential diagnosis of CD2AP-related focal segmental glomerulosclerosis.

In summary, the researchers said, “Renal genetic testing shows utility in improving the management of patients with CKD in an internal medicine setting. Early, limited use of genetic testing in this clinic identified CKD-linked genetic variants in a high proportion of patients’ tests; these results were used to guide primary care, refer for specialty care, and provide reproductive risks. Expanded use and further research are needed to better understand the utility of genetic testing.”

Source: Chronister S, Beretich L, McCormick S, Billings PR, Tabriziani H. Early experience with renal genetic testing in an internal medicine clinic. Abstract of a poster presented at the National Kidney Foundation virtual 2021 Spring Clinical Meetings (Abstract #203), April 9, 2021.