The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology
Soraru, Jacqueline, Jahan, Sadia, Quinlan, Catherine, Simons, Cas, Wardrop, Louise, O’Shea, Rosie, Wood, Alasdair, Mallawaarachchi, Amali, Patel, Chirag, Stark, Zornitza, and Mallett, Andrew John (2022) The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology. Frontiers in Medicine, 9. 891223.
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Abstract
Early identification of genetic kidney disease allows personalised management, clarification of risk for relatives, and guidance for family planning. Genetic disease is underdiagnosed, and recognition of genetic disease is particularly challenging in patients with kidney failure without distinguishing diagnostic features. To address this challenge, the primary aim of this study is to determine the proportion of genetic diagnoses amongst patients with kidney failure of unknown aetiology, using whole genome sequencing (WGS). A cohort of up to 100 Australian patients with kidney failure of unknown aetiology, with onset <50 years old and approved by a panel of study investigators will be recruited via 18 centres nationally. Clinically accredited WGS will be undertaken with analysis targeted to a priority list of ∼388 genes associated with genetic kidney disease. The primary outcome will be the proportion of patients who receive a molecular diagnosis (diagnostic rate) via WGS compared with usual -care (no further diagnostic investigation). Participant surveys will be undertaken at consent, after test result return and 1 year subsequently. Where there is no or an uncertain diagnosis, future research genomics will be considered to identify candidate genes and new pathogenic variants in known genes. All results will be relayed to participants via the recruiting clinician and/or kidney genetics clinic. The study is ethically approved (HREC/16/MH/251) with local site governance approvals in place. The future results of this study will be disseminated and inform practical understanding of the potential monogenic contribution to kidney failure of unknown aetiology. These findings are anticipated to impact clinical practice and healthcare policy. Study Registration: [https://dora.health.qld.gov.au], identifier [HREC/16/MH/251].
| Item ID: | 76518 |
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| Item Type: | Article (Scholarly Work) |
| ISSN: | 2296-858X |
| Keywords: | genetic condition, genetic kidney disease, genomics, kidney failure, unknown aetiology |
| Copyright Information: | Copyright © 2022 Soraru, Jahan, Quinlan, Simons, Wardrop, O’Shea, Wood, Mallawaarachchi, Patel, Stark and Mallett. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Date Deposited: | 18 Apr 2023 23:38 |
| FoR Codes: | 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 100% |
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