Cargando…

Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations

Reactions to the first clinical recommendations for the return of incidental findings (IFs) from genomic sequencing published by the American College of Medical Genetics and Genomics (ACMG) were polarized and resolute. Exploring the three main points of controversy: mandatory testing, testing childr...

Descripción completa

Detalles Bibliográficos
Autor principal: Richardson, Anastasia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033537/
https://www.ncbi.nlm.nih.gov/pubmed/27774177
http://dx.doi.org/10.1093/jlb/lsu028
_version_ 1782455164313010176
author Richardson, Anastasia
author_facet Richardson, Anastasia
author_sort Richardson, Anastasia
collection PubMed
description Reactions to the first clinical recommendations for the return of incidental findings (IFs) from genomic sequencing published by the American College of Medical Genetics and Genomics (ACMG) were polarized and resolute. Exploring the three main points of controversy: mandatory testing, testing children for adult conditions, and selection of conditions to be reported on, illuminates concerns for and conservation of bioethical principles—specifically, autonomy and non-directiveness. With the historical context of genetic testing in mind, this article studies the potential application of the ACMG recommendations to embryonic testing in the form of preimplantation genetic diagnosis. Theoretical extension of the current recommendations assists in the identification of bioethical dilemmas and possible societal impacts. The recommendations make a statement on the importance of diagnosis and intervention for specific genetic conditions, setting a precedent for disease classification and patient autonomy. In the extreme, the clinical application of such recommendations prenatally may result in discarded embryos, and less societal tolerance of specific conditions. Skilled professionals, such as genetic counselors, researchers, and lawmakers must work together to maintain patient autonomy, providing care in the best interest of each patient.
format Online
Article
Text
id pubmed-5033537
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-50335372016-10-21 Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations Richardson, Anastasia J Law Biosci New Developments Reactions to the first clinical recommendations for the return of incidental findings (IFs) from genomic sequencing published by the American College of Medical Genetics and Genomics (ACMG) were polarized and resolute. Exploring the three main points of controversy: mandatory testing, testing children for adult conditions, and selection of conditions to be reported on, illuminates concerns for and conservation of bioethical principles—specifically, autonomy and non-directiveness. With the historical context of genetic testing in mind, this article studies the potential application of the ACMG recommendations to embryonic testing in the form of preimplantation genetic diagnosis. Theoretical extension of the current recommendations assists in the identification of bioethical dilemmas and possible societal impacts. The recommendations make a statement on the importance of diagnosis and intervention for specific genetic conditions, setting a precedent for disease classification and patient autonomy. In the extreme, the clinical application of such recommendations prenatally may result in discarded embryos, and less societal tolerance of specific conditions. Skilled professionals, such as genetic counselors, researchers, and lawmakers must work together to maintain patient autonomy, providing care in the best interest of each patient. Oxford University Press 2014-10-31 /pmc/articles/PMC5033537/ /pubmed/27774177 http://dx.doi.org/10.1093/jlb/lsu028 Text en © The Author 2014. Published by Duke University School of Law, Harvard Law School, Oxford University Press, and Stanford Law School. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com.
spellingShingle New Developments
Richardson, Anastasia
Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
title Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
title_full Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
title_fullStr Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
title_full_unstemmed Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
title_short Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
title_sort incidental findings and future testing methodologies: potential application of the acmg 2013 recommendations
topic New Developments
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033537/
https://www.ncbi.nlm.nih.gov/pubmed/27774177
http://dx.doi.org/10.1093/jlb/lsu028
work_keys_str_mv AT richardsonanastasia incidentalfindingsandfuturetestingmethodologiespotentialapplicationoftheacmg2013recommendations