A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study
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Description
Background. The genomic era has led to enormous progress in clinical care and a multi-disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy patient care. Methods. The MDT approach involved patient selection, genomic testing choice, variant discussions and return of results. Genomics analysis included cytogenomic testing and whole exome sequencing (WES). Neurologist surveys were undertaken at baseline and after genomic testing to determine if genomic diagnoses would alter their management, and if there was a change in confidence in genomic testing and neurologist perceptions of the MDT approach. Results. The total diagnostic yield from all genomic testing was 17% (11/66), with four diagnoses from cytogenomic analyses. All chromosomal microarray (CMA) diagnoses were in patients seen by adult neurologists. Diagnostic yield for WES was 11% (7/62). The most common gene with pathogenic variants was DCX, reported in three patients, of which two were mosaic. The genomic diagnosis impacted management in 82% (9/11). There was increased confidence with integrating genomics into clinical care (Pearson chi square = 83, p = 0.004) and qualitative comments were highly supportive of the MDT approach. Conclusions. We demonstrated diagnostic yield from genomic testing, and the impact on management in a cohort with drug-resistant epilepsy. The MDT approach increased confidence in genomic testing and neurologists valued the input from this approach. The utility of CMA was demonstrated in epilepsy patients seen by adult neurologists as was the importance of considering mosaicism for previously undiagnosed patients.
Impact and interest:
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ID Code: | 241992 | ||
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Item Type: | Contribution to Journal (Journal Article) | ||
Refereed: | Yes | ||
ORCID iD: |
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Additional Information: | Funding Information: L.V. has received speaker honoraria from UCB and Eisai for talks not related to the content of this manuscript. K.R. has received speaker honoraria, advisory board payments and/or research funding from: UCB, Eisai, Novartis, Zogenix Inc., SK Lifesciences, AFT Pharmaceuticals, Liva Nova, Department of Health (Australia), Medicure International Inc, Novartis, Janssen-Cilag. The remaining authors do not have any conflict of interest to disclose. Queensland Genomics was involved in the design of the study. | ||
Measurements or Duration: | 16 pages | ||
Keywords: | diagnosis, drug-resistant, epilepsy, genomics | ||
DOI: | 10.3390/jcm11144238 | ||
ISSN: | 2077-0383 | ||
Pure ID: | 141052789 | ||
Divisions: | Current > QUT Faculties and Divisions > Faculty of Health Current > Schools > School of Nursing |
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Funding Information: | L.V. has received speaker honoraria from UCB and Eisai for talks not related to the content of this manuscript. K.R. has received speaker honoraria, advisory board payments and/or research funding from: UCB, Eisai, Novartis, Zogenix Inc., SK Lifesciences, AFT Pharmaceuticals, Liva Nova, Department of Health (Australia), Medicure International Inc, Novartis, Janssen-Cilag. The remaining authors do not have any conflict of interest to disclose. Queensland Genomics was involved in the design of the study. | ||
Copyright Owner: | 2022 by the authors. | ||
Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au | ||
Deposited On: | 31 Jul 2023 08:01 | ||
Last Modified: | 01 Jul 2024 08:29 |
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