Cargando…

Best practices for the interpretation and reporting of clinical whole genome sequencing

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leadin...

Descripción completa

Detalles Bibliográficos
Autores principales: Austin-Tse, Christina A., Jobanputra, Vaidehi, Perry, Denise L., Bick, David, Taft, Ryan J., Venner, Eric, Gibbs, Richard A., Young, Ted, Barnett, Sarah, Belmont, John W., Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A., Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R., Rehman, Atteeq U., Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M., Rehm, Heidi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993917/
https://www.ncbi.nlm.nih.gov/pubmed/35395838
http://dx.doi.org/10.1038/s41525-022-00295-z
_version_ 1784684006171738112
author Austin-Tse, Christina A.
Jobanputra, Vaidehi
Perry, Denise L.
Bick, David
Taft, Ryan J.
Venner, Eric
Gibbs, Richard A.
Young, Ted
Barnett, Sarah
Belmont, John W.
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna A.
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David R.
Rehman, Atteeq U.
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton M.
Rehm, Heidi L.
author_facet Austin-Tse, Christina A.
Jobanputra, Vaidehi
Perry, Denise L.
Bick, David
Taft, Ryan J.
Venner, Eric
Gibbs, Richard A.
Young, Ted
Barnett, Sarah
Belmont, John W.
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna A.
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David R.
Rehman, Atteeq U.
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton M.
Rehm, Heidi L.
author_sort Austin-Tse, Christina A.
collection PubMed
description Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test.
format Online
Article
Text
id pubmed-8993917
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-89939172022-04-27 Best practices for the interpretation and reporting of clinical whole genome sequencing Austin-Tse, Christina A. Jobanputra, Vaidehi Perry, Denise L. Bick, David Taft, Ryan J. Venner, Eric Gibbs, Richard A. Young, Ted Barnett, Sarah Belmont, John W. Boczek, Nicole Chowdhury, Shimul Ellsworth, Katarzyna A. Guha, Saurav Kulkarni, Shashikant Marcou, Cherisse Meng, Linyan Murdock, David R. Rehman, Atteeq U. Spiteri, Elizabeth Thomas-Wilson, Amanda Kearney, Hutton M. Rehm, Heidi L. NPJ Genom Med Review Article Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test. Nature Publishing Group UK 2022-04-08 /pmc/articles/PMC8993917/ /pubmed/35395838 http://dx.doi.org/10.1038/s41525-022-00295-z Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Review Article
Austin-Tse, Christina A.
Jobanputra, Vaidehi
Perry, Denise L.
Bick, David
Taft, Ryan J.
Venner, Eric
Gibbs, Richard A.
Young, Ted
Barnett, Sarah
Belmont, John W.
Boczek, Nicole
Chowdhury, Shimul
Ellsworth, Katarzyna A.
Guha, Saurav
Kulkarni, Shashikant
Marcou, Cherisse
Meng, Linyan
Murdock, David R.
Rehman, Atteeq U.
Spiteri, Elizabeth
Thomas-Wilson, Amanda
Kearney, Hutton M.
Rehm, Heidi L.
Best practices for the interpretation and reporting of clinical whole genome sequencing
title Best practices for the interpretation and reporting of clinical whole genome sequencing
title_full Best practices for the interpretation and reporting of clinical whole genome sequencing
title_fullStr Best practices for the interpretation and reporting of clinical whole genome sequencing
title_full_unstemmed Best practices for the interpretation and reporting of clinical whole genome sequencing
title_short Best practices for the interpretation and reporting of clinical whole genome sequencing
title_sort best practices for the interpretation and reporting of clinical whole genome sequencing
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993917/
https://www.ncbi.nlm.nih.gov/pubmed/35395838
http://dx.doi.org/10.1038/s41525-022-00295-z
work_keys_str_mv AT austintsechristinaa bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT jobanputravaidehi bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT perrydenisel bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT bickdavid bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT taftryanj bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT vennereric bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT gibbsricharda bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT youngted bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT barnettsarah bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT belmontjohnw bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT boczeknicole bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT chowdhuryshimul bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT ellsworthkatarzynaa bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT guhasaurav bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT kulkarnishashikant bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT marcoucherisse bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT menglinyan bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT murdockdavidr bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT rehmanatteequ bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT spiterielizabeth bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT thomaswilsonamanda bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT kearneyhuttonm bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT rehmheidil bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing
AT bestpracticesfortheinterpretationandreportingofclinicalwholegenomesequencing