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Illustrative case studies in the return of exome and genome sequencing results

Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop...

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Autores principales: Amendola, Laura M, Lautenbach, Denise, Scollon, Sarah, Bernhardt, Barbara, Biswas, Sawona, East, Kelly, Everett, Jessica, Gilmore, Marian J, Himes, Patricia, Raymond, Victoria M, Wynn, Julia, Hart, Ragan, Jarvik, Gail P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607287/
https://www.ncbi.nlm.nih.gov/pubmed/26478737
http://dx.doi.org/10.2217/pme.14.89
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author Amendola, Laura M
Lautenbach, Denise
Scollon, Sarah
Bernhardt, Barbara
Biswas, Sawona
East, Kelly
Everett, Jessica
Gilmore, Marian J
Himes, Patricia
Raymond, Victoria M
Wynn, Julia
Hart, Ragan
Jarvik, Gail P
author_facet Amendola, Laura M
Lautenbach, Denise
Scollon, Sarah
Bernhardt, Barbara
Biswas, Sawona
East, Kelly
Everett, Jessica
Gilmore, Marian J
Himes, Patricia
Raymond, Victoria M
Wynn, Julia
Hart, Ragan
Jarvik, Gail P
author_sort Amendola, Laura M
collection PubMed
description Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight. We present seven emerging themes related to return of exome and genome sequencing results accompanied by case descriptions illustrating important lessons learned, counseling challenges specific to these tests and considerations for future research and practice.
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spelling pubmed-46072872015-10-15 Illustrative case studies in the return of exome and genome sequencing results Amendola, Laura M Lautenbach, Denise Scollon, Sarah Bernhardt, Barbara Biswas, Sawona East, Kelly Everett, Jessica Gilmore, Marian J Himes, Patricia Raymond, Victoria M Wynn, Julia Hart, Ragan Jarvik, Gail P Per Med Article Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight. We present seven emerging themes related to return of exome and genome sequencing results accompanied by case descriptions illustrating important lessons learned, counseling challenges specific to these tests and considerations for future research and practice. 2015 /pmc/articles/PMC4607287/ /pubmed/26478737 http://dx.doi.org/10.2217/pme.14.89 Text en http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under the Creative Commons Attribution-NonCommercial 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Article
Amendola, Laura M
Lautenbach, Denise
Scollon, Sarah
Bernhardt, Barbara
Biswas, Sawona
East, Kelly
Everett, Jessica
Gilmore, Marian J
Himes, Patricia
Raymond, Victoria M
Wynn, Julia
Hart, Ragan
Jarvik, Gail P
Illustrative case studies in the return of exome and genome sequencing results
title Illustrative case studies in the return of exome and genome sequencing results
title_full Illustrative case studies in the return of exome and genome sequencing results
title_fullStr Illustrative case studies in the return of exome and genome sequencing results
title_full_unstemmed Illustrative case studies in the return of exome and genome sequencing results
title_short Illustrative case studies in the return of exome and genome sequencing results
title_sort illustrative case studies in the return of exome and genome sequencing results
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607287/
https://www.ncbi.nlm.nih.gov/pubmed/26478737
http://dx.doi.org/10.2217/pme.14.89
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