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Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate...

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Autores principales: Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427178/
https://www.ncbi.nlm.nih.gov/pubmed/28327571
http://dx.doi.org/10.1038/ejhg.2017.37
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author Ormondroyd, Elizabeth
Mackley, Michael P
Blair, Edward
Craft, Jude
Knight, Julian C
Taylor, John
Taylor, Jenny C
Wilkie, Andrew OM
Watkins, Hugh
author_facet Ormondroyd, Elizabeth
Mackley, Michael P
Blair, Edward
Craft, Jude
Knight, Julian C
Taylor, John
Taylor, Jenny C
Wilkie, Andrew OM
Watkins, Hugh
author_sort Ormondroyd, Elizabeth
collection PubMed
description Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought. Allied to this is the need for an effective education programme for all members of clinical teams involved in care of patients with rare disease, as well as to maintain public confidence in the use of these technologies. We established a Genomic Medicine Multidisciplinary Team (GM-MDT) in 2014 to build on the experiences of earlier successful research-based WES/WGS studies, to address these needs and to review results including pertinent and secondary findings. Here we report on a qualitative study of decision-making in the GM-MDT combined with analysis of semi-structured interviews with GM-MDT members. Study findings show that members appreciate the clinical and scientific diversity of the GM-MDT and value it for education and oversight. To date, discussions have focussed on case selection including the extent and interpretation of clinical and family history information required to establish likely monogenic aetiology and inheritance model. Achieving a balance between effective use of WES/WGS – prioritising cases in a diverse and highly complex patient population where WES/WGS will be tractable – and meeting the recruitment targets of a large project is considered challenging.
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spelling pubmed-54271782017-06-30 Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study Ormondroyd, Elizabeth Mackley, Michael P Blair, Edward Craft, Jude Knight, Julian C Taylor, John Taylor, Jenny C Wilkie, Andrew OM Watkins, Hugh Eur J Hum Genet Article Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought. Allied to this is the need for an effective education programme for all members of clinical teams involved in care of patients with rare disease, as well as to maintain public confidence in the use of these technologies. We established a Genomic Medicine Multidisciplinary Team (GM-MDT) in 2014 to build on the experiences of earlier successful research-based WES/WGS studies, to address these needs and to review results including pertinent and secondary findings. Here we report on a qualitative study of decision-making in the GM-MDT combined with analysis of semi-structured interviews with GM-MDT members. Study findings show that members appreciate the clinical and scientific diversity of the GM-MDT and value it for education and oversight. To date, discussions have focussed on case selection including the extent and interpretation of clinical and family history information required to establish likely monogenic aetiology and inheritance model. Achieving a balance between effective use of WES/WGS – prioritising cases in a diverse and highly complex patient population where WES/WGS will be tractable – and meeting the recruitment targets of a large project is considered challenging. Nature Publishing Group 2017-06 2017-03-22 /pmc/articles/PMC5427178/ /pubmed/28327571 http://dx.doi.org/10.1038/ejhg.2017.37 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, userswill need to obtain permission fromthe license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Ormondroyd, Elizabeth
Mackley, Michael P
Blair, Edward
Craft, Jude
Knight, Julian C
Taylor, John
Taylor, Jenny C
Wilkie, Andrew OM
Watkins, Hugh
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
title Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
title_full Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
title_fullStr Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
title_full_unstemmed Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
title_short Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
title_sort insights from early experience of a rare disease genomic medicine multidisciplinary team: a qualitative study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427178/
https://www.ncbi.nlm.nih.gov/pubmed/28327571
http://dx.doi.org/10.1038/ejhg.2017.37
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