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Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation

Understanding the clinical significance of variants associated with hereditary cancer risk requires access to a pooled data resource or network of resources—a “cancer gene variant commons”—incorporating representative, well-characterized genetic data, metadata, and, for some purposes, pathways to ca...

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Autores principales: Majumder, Mary A., Blank, Matthew L., Geary, Janis, Bollinger, Juli M., Guerrini, Christi J., Robinson, Jill Oliver, Canfield, Isabel, Cook-Deegan, Robert, McGuire, Amy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305920/
https://www.ncbi.nlm.nih.gov/pubmed/34357113
http://dx.doi.org/10.3390/jpm11070646
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author Majumder, Mary A.
Blank, Matthew L.
Geary, Janis
Bollinger, Juli M.
Guerrini, Christi J.
Robinson, Jill Oliver
Canfield, Isabel
Cook-Deegan, Robert
McGuire, Amy L.
author_facet Majumder, Mary A.
Blank, Matthew L.
Geary, Janis
Bollinger, Juli M.
Guerrini, Christi J.
Robinson, Jill Oliver
Canfield, Isabel
Cook-Deegan, Robert
McGuire, Amy L.
author_sort Majumder, Mary A.
collection PubMed
description Understanding the clinical significance of variants associated with hereditary cancer risk requires access to a pooled data resource or network of resources—a “cancer gene variant commons”—incorporating representative, well-characterized genetic data, metadata, and, for some purposes, pathways to case-level data. Several initiatives have invested significant resources into collecting and sharing cancer gene variant data, but further progress hinges on identifying and addressing unresolved policy issues. This commentary provides insights from a modified policy Delphi process involving experts from a range of stakeholder groups involved in the data-sharing ecosystem. In particular, we describe policy issues and options generated by Delphi participants in five domains critical to the development of an effective cancer gene variant commons: incentives, financial sustainability, privacy and security, equity, and data quality. Our intention is to stimulate wider discussion and lay a foundation for further work evaluating policy options more in-depth and mapping them to those who have the power to bring about change. Addressing issues in these five domains will contribute to a cancer gene variant commons that supports better care for at-risk and affected patients, empowers patient communities, and advances research on hereditary cancers.
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spelling pubmed-83059202021-07-25 Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation Majumder, Mary A. Blank, Matthew L. Geary, Janis Bollinger, Juli M. Guerrini, Christi J. Robinson, Jill Oliver Canfield, Isabel Cook-Deegan, Robert McGuire, Amy L. J Pers Med Article Understanding the clinical significance of variants associated with hereditary cancer risk requires access to a pooled data resource or network of resources—a “cancer gene variant commons”—incorporating representative, well-characterized genetic data, metadata, and, for some purposes, pathways to case-level data. Several initiatives have invested significant resources into collecting and sharing cancer gene variant data, but further progress hinges on identifying and addressing unresolved policy issues. This commentary provides insights from a modified policy Delphi process involving experts from a range of stakeholder groups involved in the data-sharing ecosystem. In particular, we describe policy issues and options generated by Delphi participants in five domains critical to the development of an effective cancer gene variant commons: incentives, financial sustainability, privacy and security, equity, and data quality. Our intention is to stimulate wider discussion and lay a foundation for further work evaluating policy options more in-depth and mapping them to those who have the power to bring about change. Addressing issues in these five domains will contribute to a cancer gene variant commons that supports better care for at-risk and affected patients, empowers patient communities, and advances research on hereditary cancers. MDPI 2021-07-08 /pmc/articles/PMC8305920/ /pubmed/34357113 http://dx.doi.org/10.3390/jpm11070646 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Majumder, Mary A.
Blank, Matthew L.
Geary, Janis
Bollinger, Juli M.
Guerrini, Christi J.
Robinson, Jill Oliver
Canfield, Isabel
Cook-Deegan, Robert
McGuire, Amy L.
Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation
title Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation
title_full Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation
title_fullStr Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation
title_full_unstemmed Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation
title_short Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation
title_sort challenges to building a gene variant commons to assess hereditary cancer risk: results of a modified policy delphi panel deliberation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305920/
https://www.ncbi.nlm.nih.gov/pubmed/34357113
http://dx.doi.org/10.3390/jpm11070646
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