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The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

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posted on 21.06.2022, 16:07 by Elhussein ElhassanElhussein Elhassan, Susan MurraySusan Murray, Dervla M Connaughton, Claire Kennedy, Sarah Cormican, Cliona Cowhig, Caragh Stapleton, Mark A Little, Kendrah Kidd, Anthony J Bleyer, Martina Živná, Stanislav Kmoch, Neil K Fennelly, Brendan DoyleBrendan Doyle, Tony DormanTony Dorman, Matthew D Griffin, Liam Casserly, Peter C Harris, Friedhelm Hildebrandt, Gianpiero CavalleriGianpiero Cavalleri, Katherine BensonKatherine Benson, Peter ConlonPeter Conlon

Background and aims: Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies.

Methods: In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria. Over 7 years, patients were referred from tertiary centres across Ireland to an academic medical centre as part of the Irish Kidney Gene Project.

Results: Among 677 patients, the mean age was of 37.2 ± 13 years, and 73.9% of the patients had family history of chronic kidney disease (CKD). We achieved a molecular diagnostic rate of 50.9%. Four genes accounted for more than 70% of identified pathogenic variants: PKD1 and PKD2 (n = 186, 53.4%), MUC1 (8.9%), and COL4A5 (8.3%). In 162 patients with a genetic diagnosis, excluding PKD1/PKD2, the a priori diagnosis was confirmed in 58% and in 13% the diagnosis was reclassified. A genetic diagnosis was established in 22 (29.7%) patients with CKD of uncertain aetiology. Based on genetic testing, a diagnostic kidney biopsy was unnecessary in 13 (8%) patients. Presence of family history of CKD and the underlying a priori diagnosis were independent predictors (P < 0.001) of a positive genetic diagnosis.

Conclusions: A dedicated GKD clinic is a valuable resource, and its implementation of various genomic strategies has resulted in a direct, demonstrable clinical and therapeutic benefits to affected patients.

Funding

Punchestown Kidney Research Fund (EPSPD/2019/213)

Irish Kidney association/Health Research Board under the HRCI-HRB Joint funding scheme (Grant code: HRCI-HRB-2020-032)

History

Comments

The original article is available at https://link.springer.com/

Published Citation

Elhassan EAE. et al. The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. J Nephrol. 2022.

Publication Date

31 January 2022

PubMed ID

35099770

Department/Unit

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

Research Area

  • Vascular Biology
  • Cancer
  • Neurological and Psychiatric Disorders

Publisher

Springer

Version

  • Published Version (Version of Record)