Cold Spring Harb Mol Case Stud-2020-Benson-a005462.pdf (958.94 kB)

Diagnostic utility of genetic testing in patients undergoing renal biopsy

Download (958.94 kB)
journal contribution
posted on 21.04.2021, 18:18 by Katherine Benson, Susan Murray, Ross Doyle, Brendan Doyle, Tony Dorman, Denise Sadlier, Eoin Brennan, Margaret Large, Gianpiero Cavalleri, Catherine Godson, Peter Conlon
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.

Funding

Irish Research Council and Punchestown Kidney Research Fund (EPSPD/2019/213)

Royal College of Surgeons in Ireland STAR Hermitage MD programme

History

Comments

The original article can is available at http://molecularcasestudies.cshlp.org/

Published Citation

Benson KA, Murray SL, Doyle R, Doyle B, Dorman AM, Sadlier D, Brennan E, Large M, Cavalleri GP, Godson C, Conlon PJ. Diagnostic utility of genetic testing in patients undergoing renal biopsy. Cold Spring Harbor Molecular Case Studies. 2020;6(5):a005462

Publication Date

28 July 2020

PubMed ID

32723786

Department/Unit

  • Beaumont Hospital
  • School of Pharmacy and Biomolecular Sciences
  • Medicine
  • Pathology

Research Area

  • Neurological and Psychiatric Disorders
  • Vascular Biology

Publisher

Cold Spring Harbor Laboratory Press

Version

  • Published Version (Version of Record)