Diagnostic utility of genetic testing in patients undergoing renal biopsy
- Katherine A. Benson1,9,
- Susan L. Murray2,3,9,
- Ross Doyle4,
- Brendan Doyle5,
- Anthony M. Dorman5,6,7,
- Denise Sadlier8,
- Eoin Brennan4,
- Margaret Large3,
- Gianpiero L. Cavalleri1,
- Catherine Godson4 and
- Peter J. Conlon2,3
- 1School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Stephen's Green, Dublin, Ireland D02 YN77;
- 2Department of Nephrology and Transplantation, Beaumont Hospital, Dublin 9, Ireland D09 V2N0;
- 3Department of Medicine, Royal College of Surgeons in Ireland, Stephen's Green, Dublin, Ireland D02 YN77;
- 4Diabetes Complications Research Centre, School of Medicine, University College Dublin, Ireland;
- 5Department of Histopathology, Beaumont Hospital, Dublin, Ireland D09 V2N0;
- 6Department of Pathology, Royal College of Surgeons in Ireland, Dublin, Ireland D02 YN77;
- 7Department of Pathology, Royal College of Surgeons in Ireland, Stephen's Green, Dublin, Ireland D02 YN77;
- 8Mater Misericordiae Hospital, Dublin, Ireland D07 K201
- Corresponding author: katherinebenson{at}rcsi.com
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↵9 These authors contributed equally to this work.
Abstract
High-throughput DNA testing is becoming established as a standard diagnostic test in the renal clinic. Previously published studies on cohorts of patients with unexplained chronic kidney disease of a suspected genetic aetiology have suggested a diagnostic yield for genomic sequencing of up to 18%. Here we determine the yield of targeted gene panel in a clinically unscreened cohort of patients referred for percutaneous native renal biopsy. Patients who underwent renal biopsy for investigation of chronic kidney disease were sequenced using a genomic sequencing panel covering 227 genes in which variation is known to be associated with monogenic chronic kidney disease (CKD). Candidate disease-causing variants were assessed for pathogenicity using guidelines from the American College for Medical Genetics and Genomics. Fifty CKD patients were recruited and sequenced. A molecular diagnosis was obtained for two patients (4%). A molecular diagnosis is possible using genomic testing in ∼4% of clinically unscreened patients undergoing renal biopsy. Genetic screening may be useful for diagnosis in a subset of CKD patients but is most valuable when applied to patients with suspected heritable forms of kidney disease.
- acute tubulointerstitial nephritis
- decreased glomerular filtration rate
- elevated serum creatinine
- glomerulonephritis
- heavy proteinuria
- hematuria
- mild proteinuria
- moderate proteinuria
- stage 1 chronic kidney disease
- stage 2 chronic kidney disease
- stage 3 chronic kidney disease
- stage 4 chronic kidney disease
- stage 5 chronic kidney disease
Footnotes
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[Supplemental material is available for this article.]
- Received April 21, 2020.
- Accepted July 16, 2020.
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