Please use this identifier to cite or link to this item: https://dora.health.qld.gov.au/qldresearchjspui/handle/1/3723
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dc.contributor.authorLau, C.en
dc.contributor.authorAbdulrasool, G.en
dc.contributor.authorBrion, K.en
dc.contributor.authorLundie, B.en
dc.contributor.authorAung, H.en
dc.contributor.authorRodgers, J.en
dc.contributor.authorGordon, L.en
dc.contributor.authorRiney, K.en
dc.contributor.authorVadlamudi, L.en
dc.contributor.authorBennett, C. M.en
dc.contributor.authorTom, M.en
dc.date.accessioned2022-11-07T23:45:25Z-
dc.date.available2022-11-07T23:45:25Z-
dc.date.issued2022en
dc.identifier.citationJul 21 11, (14), 2022en
dc.identifier.otherRISen
dc.identifier.urihttp://dora.health.qld.gov.au/qldresearchjspui/handle/1/3723-
dc.description.abstractBACKGROUND: 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.2077-0383Vadlamudi, Lata <br />Orcid: 0000-0002-8742-0125 <br />Bennett, Carmen Maree <br />Tom, Melanie <br />Abdulrasool, Ghusoon <br />Brion, Kristian <br />Lundie, Ben <br />Aung, Hnin <br />Lau, Chiyan <br />Orcid: 0000-0002-9129-8783 <br />Rodgers, Jonathan <br />Riney, Kate <br />Gordon, Louisa <br />Orcid: 0000-0002-3159-4249 <br />not applicable/Queensland Genomics/ <br />Not applicable/Metro North Clinician Research Fellowship/ <br />Journal Article <br />J Clin Med. 2022 Jul 21;11(14):4238. doi: 10.3390/jcm11144238. <br />en
dc.language.isoenen
dc.relation.ispartofJ Clin Meden
dc.titleA Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Studyen
dc.typeArticleen
dc.identifier.doi10.3390/jcm11144238en
dc.subject.keywordsthe content of this manuscript. K.R. has received speaker honoraria, advisoryen
dc.subject.keywordsgenomicsen
dc.subject.keywordsboard payments and/or research funding from: UCB, Eisai, Novartis, Zogenix Inc.,en
dc.subject.keywordsepilepsyen
dc.subject.keywordsdiagnosisdrug-resistanten
dc.identifier.risid3033en
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
item.openairetypeArticle-
item.grantfulltextnone-
item.fulltextNo Fulltext-
Appears in Sites:Children's Health Queensland Publications
Queensland Health Publications
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