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Abstract: SA-PO542

Next Generation Sequencing to Determine Etiology of Renal Disease: A Canadian Prospective Cohort Study

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Van Nynatten, Logan R., London Health Sciences Centre University Hospital, London, Ontario, Canada
  • Baker, Cadence, London Health Sciences Centre University Hospital, London, Ontario, Canada
  • Connaughton, Dervla M., London Health Sciences Centre University Hospital, London, Ontario, Canada

Recent data suggest that monogenic (single gene) diseases are underestimated in chronic kidney disease (CKD), particularly in adults with CKD of unknown etiology (CKDu). Retrospective research-based studies show that up to 70% pediatric and 30% adult-onset CKD is monogenic. Prospective studies are needed to help guide nephrologists on the integrating next generation sequencing into routine clinical settings.


This study is an ongoing prospective, cohort study to evaluate the diagnostic yield of next generation sequencing testing in a Canadian clinic. The secondary objective is to determine the outcomes following establishment of a genetic diagnosis, to help guide physicians and policymakers on implementation of next generation sequencing diagnostic into routine clinical care. A targeted phenotype driven gene panel was performed if the subtype of CKD was evident at time of presentation. Exome sequencing was utilized for patients with non-diagnostic panels or in whom the subtype of CKD was unknown (i.e. CKDu).


To date, 148 families (209 individuals) have been recruited. We report on 72 families with CKD in whom next generation sequencing testing results are currently available. The median age of onset of CKD was 44 years (IQR 35-52). In 55% the subtype of CKD was unknown. A genetic diagnosis was confirmed in 42% of families. Exome sequencing yielded a genetic diagnosis in a further 10% who had a negative phenotype driven gene panel or had CKDu.


This is the first study to prospectively characterize monogenic causation of CKD in a Canadian cohort. Genetic sequencing demonstrates a high prevalence of monogenic disease in CKD. Both gene-panel and exome sequencing identified pathogenic mutations associated with renal disease. Genetic sequencing informed prognosis and resolved diagnostic confusion in all positive cases, while in some cases help guide management or facilitate decision making in biologically related living donors.