Cargando…
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...
Autores principales: | , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1782395489156595712 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4607287 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT amendolalauram illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT lautenbachdenise illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT scollonsarah illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT bernhardtbarbara illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT biswassawona illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT eastkelly illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT everettjessica illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT gilmoremarianj illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT himespatricia illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT raymondvictoriam illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT wynnjulia illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT hartragan illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT illustrativecasestudiesinthereturnofexomeandgenomesequencingresults AT jarvikgailp illustrativecasestudiesinthereturnofexomeandgenomesequencingresults |