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A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.
Vadlamudi, Lata; Bennett, Carmen Maree; Tom, Melanie; Abdulrasool, Ghusoon; Brion, Kristian; Lundie, Ben; Aung, Hnin; Lau, Chiyan; Rodgers, Jonathan; Riney, Kate; Gordon, Louisa.
Afiliación
  • Vadlamudi L; The University of Queensland, UQ Centre for Clinical Research, Herston, QLD 4029, Australia.
  • Bennett CM; Department of Neurology, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Tom M; The University of Queensland, UQ Centre for Clinical Research, Herston, QLD 4029, Australia.
  • Abdulrasool G; The University of Queensland, UQ Centre for Clinical Research, Herston, QLD 4029, Australia.
  • Brion K; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Lundie B; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Aung H; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Lau C; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Rodgers J; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.
  • Riney K; Faculty of Medicine, The University of Queensland, Herston, QLD 4029, Australia.
  • Gordon L; Faculty of Medicine, The University of Queensland, Herston, QLD 4029, Australia.
J Clin Med ; 11(14)2022 Jul 21.
Article en En | MEDLINE | ID: mdl-35888005
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Qualitative_research Idioma: En Revista: J Clin Med Año: 2022 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Qualitative_research Idioma: En Revista: J Clin Med Año: 2022 Tipo del documento: Article País de afiliación: Australia