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Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience
BACKGROUND: Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X‐linked carrier results as a...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305639/ https://www.ncbi.nlm.nih.gov/pubmed/30133189 http://dx.doi.org/10.1002/mgg3.453 |
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author | Porter, Kathryn M. Kauffman, Tia L. Koenig, Barbara A. Lewis, Katie L. Rehm, Heidi L. Richards, Carolyn Sue Strande, Natasha T. Tabor, Holly K. Wolf, Susan M. Yang, Yaping Amendola, Laura M. Azzariti, Danielle R. Berg, Jonathan S. Bergstrom, Katie Biesecker, Leslie G. Biswas, Sawona Bowling, Kevin M. Chung, Wendy K. Clayton, Ellen W. Conlin, Laura K. Cooper, Gregory M. Dulik, Matthew C. Garraway, Levi A. Ghazani, Arezou A. Green, Robert C. Hiatt, Susan M. Jamal, Seema M. Jarvik, Gail P. Goddard, Katrina A. B. Wilfond, Benjamin S. |
author_facet | Porter, Kathryn M. Kauffman, Tia L. Koenig, Barbara A. Lewis, Katie L. Rehm, Heidi L. Richards, Carolyn Sue Strande, Natasha T. Tabor, Holly K. Wolf, Susan M. Yang, Yaping Amendola, Laura M. Azzariti, Danielle R. Berg, Jonathan S. Bergstrom, Katie Biesecker, Leslie G. Biswas, Sawona Bowling, Kevin M. Chung, Wendy K. Clayton, Ellen W. Conlin, Laura K. Cooper, Gregory M. Dulik, Matthew C. Garraway, Levi A. Ghazani, Arezou A. Green, Robert C. Hiatt, Susan M. Jamal, Seema M. Jarvik, Gail P. Goddard, Katrina A. B. Wilfond, Benjamin S. |
author_sort | Porter, Kathryn M. |
collection | PubMed |
description | BACKGROUND: Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X‐linked carrier results as additional secondary findings, and research about the impact of carrier results disclosure in this context is needed. METHODS: Representatives from 11 projects in the clinical sequencing exploratory research (CSER) consortium collected data from their projects using a structured survey. The survey focused on project characteristics, which variants were offered and/or disclosed to participants as carrier results, methods for carrier results disclosure, and project‐specific outcomes. We recorded quantitative responses and report descriptive statistics with the aim of describing the variability in approaches to disclosing carrier results in translational genomics research projects. RESULTS: The proportion of participants with carrier results was related to the number of genes included, ranging from 3% (three genes) to 92% (4,600 genes). Between one and seven results were disclosed to those participants who received any positive result. Most projects offered participants choices about whether to receive some or all of the carrier results. There were a range of approaches to communicate results, and many projects used separate approaches for disclosing positive and negative results. CONCLUSION: Future translational genomics research projects will need to make decisions regarding whether and how to disclose carrier results. The CSER consortium experience identifies approaches that balance potential participant interest while limiting impact on project resources. |
format | Online Article Text |
id | pubmed-6305639 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-63056392019-01-02 Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience Porter, Kathryn M. Kauffman, Tia L. Koenig, Barbara A. Lewis, Katie L. Rehm, Heidi L. Richards, Carolyn Sue Strande, Natasha T. Tabor, Holly K. Wolf, Susan M. Yang, Yaping Amendola, Laura M. Azzariti, Danielle R. Berg, Jonathan S. Bergstrom, Katie Biesecker, Leslie G. Biswas, Sawona Bowling, Kevin M. Chung, Wendy K. Clayton, Ellen W. Conlin, Laura K. Cooper, Gregory M. Dulik, Matthew C. Garraway, Levi A. Ghazani, Arezou A. Green, Robert C. Hiatt, Susan M. Jamal, Seema M. Jarvik, Gail P. Goddard, Katrina A. B. Wilfond, Benjamin S. Mol Genet Genomic Med Original Articles BACKGROUND: Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X‐linked carrier results as additional secondary findings, and research about the impact of carrier results disclosure in this context is needed. METHODS: Representatives from 11 projects in the clinical sequencing exploratory research (CSER) consortium collected data from their projects using a structured survey. The survey focused on project characteristics, which variants were offered and/or disclosed to participants as carrier results, methods for carrier results disclosure, and project‐specific outcomes. We recorded quantitative responses and report descriptive statistics with the aim of describing the variability in approaches to disclosing carrier results in translational genomics research projects. RESULTS: The proportion of participants with carrier results was related to the number of genes included, ranging from 3% (three genes) to 92% (4,600 genes). Between one and seven results were disclosed to those participants who received any positive result. Most projects offered participants choices about whether to receive some or all of the carrier results. There were a range of approaches to communicate results, and many projects used separate approaches for disclosing positive and negative results. CONCLUSION: Future translational genomics research projects will need to make decisions regarding whether and how to disclose carrier results. The CSER consortium experience identifies approaches that balance potential participant interest while limiting impact on project resources. John Wiley and Sons Inc. 2018-08-21 /pmc/articles/PMC6305639/ /pubmed/30133189 http://dx.doi.org/10.1002/mgg3.453 Text en © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Porter, Kathryn M. Kauffman, Tia L. Koenig, Barbara A. Lewis, Katie L. Rehm, Heidi L. Richards, Carolyn Sue Strande, Natasha T. Tabor, Holly K. Wolf, Susan M. Yang, Yaping Amendola, Laura M. Azzariti, Danielle R. Berg, Jonathan S. Bergstrom, Katie Biesecker, Leslie G. Biswas, Sawona Bowling, Kevin M. Chung, Wendy K. Clayton, Ellen W. Conlin, Laura K. Cooper, Gregory M. Dulik, Matthew C. Garraway, Levi A. Ghazani, Arezou A. Green, Robert C. Hiatt, Susan M. Jamal, Seema M. Jarvik, Gail P. Goddard, Katrina A. B. Wilfond, Benjamin S. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience |
title | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience |
title_full | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience |
title_fullStr | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience |
title_full_unstemmed | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience |
title_short | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience |
title_sort | approaches to carrier testing and results disclosure in translational genomics research: the clinical sequencing exploratory research consortium experience |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305639/ https://www.ncbi.nlm.nih.gov/pubmed/30133189 http://dx.doi.org/10.1002/mgg3.453 |
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