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Kidney Week

Abstract: PO1291

Early Experience with Broad-Panel NGS Testing for Kidney Disease in a Community Nephrology Setting

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Darwish, Tarek, Kansas City Kidney Specialists, Overland Park, Kansas, United States
  • Brossart, Katya, Natera, Inc., San Carlos, California, United States
  • Tabriziani, Hossein, Natera, Inc., San Carlos, California, United States
Background

Despite the increasing awareness of the value of incorporating genetic testing, its adoption in community nephrology settings is limited. Genetic testing can guide prognostication, targeted treatments, referral to specialists for extra-renal features, and identification of at-risk relatives. For individuals with kidney failure, additional testing can help assess the risk of recurrent kidney disease after transplant and evaluation of suitable living related kidney donors. Broad-panel testing can provide benefits over narrow panels based on clinical presentation.

Methods

Thirty-one patients with kidney disease completed genetic testing with the RenasightTM test (NGS-based >380-gene kidney disease panel) between October 2020 and April 2021. Median age of patients was 49 years (range: 28-78 years). Genetic testing results were correlated to clinical histories, demographic factors, family history (when available) and comorbidities. Certified genetic counselors interpreted the results and provided consultation to patients on request.

Results

Positive findings were identified in 22.6% (7/31) of patients tested in the APOL1, PKD1, SLC2A9, COL4A4, and PKD2 genes (Table 1). Testing resulted in implications for prognosis in 85.7% (6/7) of patients and in changes in clinical management for 28.6% (2/7) of patients. Homozygosity or compound heterozygosity for the APOL1 high risk alleles G1 and G2 was identified in 9.7% (3/31) of patients and were found primarily in African American patients.

Conclusion

In the community nephrology setting, the utility of genetic testing as part of the diagnostic workup is multifaceted. As compared to selection of a narrow panel based on clinical features, use of a broad panel that includes reporting of the APOL1 high risk alleles has the additional benefit of identifying genetic causes of kidney disease with ambiguous or non-specific clinical findings.

Findings from Broad Panel Genetic Testing in Patients with Kidney Disease
Genes (# patients)Associated Genetic ConditionInheritance Pattern*
APOL1 (3)Susceptibility to End-Stage Renal Disease & Focal Segmental Glomerulosclerosis 4Complex
COL4A4 (1)Alport Syndrome, COL4A4-RelatedAD & AR
PKD1 (1)Polycystic Kidney Disease 1AD
PKD2 (1)Polycystic Kidney Disease 2AD
SLC2A9 (1)Renal Hypouricemia 2AD & AR

*Inheritance patterns: autosomal dominant (AD); autosomal recessive (AR); X-linked (XL)