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Kidney Week

Abstract: PO1292

KIDNEYCODE: A Genetic Testing Program for Patients with CKD

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Devarajan, Prasad, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
  • Lieberman, Kenneth V., Hackensack Meridian School of Medicine, Nutley, New Jersey, United States
  • Wang, Xiangling, Cleveland Clinic, Cleveland, Ohio, United States
  • Warady, Bradley A., Children's Mercy Hospitals and Clinics, Kansas City, Missouri, United States
  • Chang, Alex R., Geisinger Health, Danville, Pennsylvania, United States
Background

Knowledge about the genetic causes of chronic kidney disease (CKD) is one of the key gaps in global kidney research. Recent International Society of Nephrology recommendations encourage the adoption of genetic testing to provide precision medicine based on individual risk. A recent whole-exome sequencing study showed that genetic inheritance may be responsible for up to 10% of CKD diagnoses in adults, many of which may be previously undiagnosed or mis-diagnosed. Continued advances in DNA sequencing technology have made genetic testing applicable to routine clinical diagnoses.

Methods

KIDNEYCODE offers no-charge genetic testing for three rare forms of CKD: Alport syndrome (AS), focal segmental glomerulosclerosis (FSGS), and 2 forms of polycystic kidney disease: autosomal dominant polycystic kidney disease (ADPKD) due to PKD2 mutations and autosomal recessive polycystic kidney disease. Invitae’s renal disease panel includes 18 genes (ACTN4, ANLN, APOL1, CD2AP, COL4A3, COL4A4, COL4A5, CRB2, HNF1A, INF2, LMX1B, MYO1E, NPHS1, NPHS2, PAX2, PKD2, PKHD1, and TRPC6). Patients in the US with eGFR ≤ 90 mL/min/1.73m2 plus hematuria or a family history of CKD, or with a known or suspected diagnosis of AS or FSGS are eligible for testing. Family members of those with suspected or known AS or FSGS are also eligible. All participants have access to genetic counseling follow-up at no additional charge.

Results

To date, the KIDNEYCODE program has results from 1389 genetic tests. Genetic variants were reported in 845 patients. Of those, 574 patients had 613 variants in COL4A3, 4, or 5 genes (403 Pathogenic/Likely Pathogenic (P/LP), 210 Variants of Uncertain Significance (VUS)), 284 patients had 302 variants in genes associated with FSGS (55 P/LP, 247 VUS), 112 patients had 115 variants in PKHD1 (15 P/LP, 100 VUS), and 22 patients had a variant in PKD2 (7 P/LP, 15 VUS), and 75 patients had a VUS in APOL1.

Conclusion

Results from the KIDNEYCODE genetic testing program demonstrate that combining genetic testing with clinical presentation and medical history can improve accuracy of diagnosis in patients with hereditary CKD.

Funding

  • Commercial Support