*Purpose: Studies show that ~10% of adult chronic kidney diseases (CKD) cases have genetic etiologies. In the nephrology setting, the use of a broad, unbiased genetic panel may have benefit over using smaller, targeted panels based on the clinical presentation. Here we describe the use of an NGS-based panel of 382 or 385 genes related to kidney disease (the Renasight^TM test), in our transplant nephrology center.

*Methods: From November 2020-2021 our center incorporated genetic testing for select donors, patients with CKD, and kidney transplant (KT) recipients. Patients were offered genetic testing if they met one of the following criteria: (i) KT recipient, (ii) history of undiagnosed kidney disease, (iii) family history of kidney disease or (iv) African American ancestry. Prospective donors were offered testing if there was a family history of kidney disease and/or if they were of African American descent. The presence of 1 pathogenic (P)/likely pathogenic (LP) variant in an X-linked or autosomal dominant condition, 2 P/LP variants in an autosomal recessive condition, or 2 APOL1 G1 or G2 alleles were considered positive findings.

*Results: A total of 114 patients fit the testing criteria (KT recipients: n=33, CKD/waitlisted: n=75; donors: n=6), of which, 56% were male (n=62) with an average age of 49 years (range: 7-81). The clinical diagnoses of the tested CKD and KT patients were classified in 7 categories (Table 1); of which, the most common were glomerular disease (n=37, 32.46%), nephropathy of unknown cause (n=24, 21.05%) and hypertensive nephropathy (n=17, 14.91%). Overall, 31.6% (36/114) patients had positive findings in 13 genes; 2 patients had dual positive results (Table 1). None (0/6) of the prospective donors had positive findings. Notably, genetic findings lead to disease reclassification or immediate change in management in 29 of the 108 CKD/KT patients.

*Conclusions: Incorporating broad panel genetic testing into clinical practice at a transplant nephrology center yielded valuable genetic insights for patients with CKD, KT and potential donors. In multiple affected patients, the clinical presentation did not align with the genetic diagnosis, leading to reclassification of disease. Unanticipated negative results for some patients prompted additional workup. This experience demonstrates that implementing protocolized genetic testing with a broad gene panel can identify patients with CKD for which testing is appropriate.

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