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How Clinicians Conceptualize “Actionability” in Genomic Screening

Over the last decade, the concept of actionability has become a primary framework for assessing whether genetic data is useful and appropriate to return to patients. Despite the popularity of this concept, there is little consensus about what should count as “actionable” information. This is particu...

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Autores principales: Owens, Kellie, Sankar, Pamela, Asfaha, Dina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959215/
https://www.ncbi.nlm.nih.gov/pubmed/36836524
http://dx.doi.org/10.3390/jpm13020290
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author Owens, Kellie
Sankar, Pamela
Asfaha, Dina M.
author_facet Owens, Kellie
Sankar, Pamela
Asfaha, Dina M.
author_sort Owens, Kellie
collection PubMed
description Over the last decade, the concept of actionability has become a primary framework for assessing whether genetic data is useful and appropriate to return to patients. Despite the popularity of this concept, there is little consensus about what should count as “actionable” information. This is particularly true in population genomic screening, where there is considerable disagreement about what counts as good evidence and which clinical actions are appropriate for which patients. The pathway from scientific evidence to clinical action is not straightforward—it is as much social and political as it is scientific. This research explores the social dynamics shaping the integration of “actionable” genomic data into primary care settings. Based on semi-structured interviews with 35 genetics experts and primary care providers, we find that clinicians vary in how they define and operationalize “actionable” information. There are two main sources of disagreement. First, clinicians differ on the levels and types of evidence required for a result to be actionable, such as when we can be confident that genomic data provides accurate information. Second, there are disagreements about the clinical actions that must be available so that patients can benefit from that information. By highlighting the underlying values and assumptions embedded in discussions of actionability for genomic screening, we provide an empirical basis for building more nuanced policies regarding the actionability of genomic data in terms of population screening in primary care settings.
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spelling pubmed-99592152023-02-26 How Clinicians Conceptualize “Actionability” in Genomic Screening Owens, Kellie Sankar, Pamela Asfaha, Dina M. J Pers Med Article Over the last decade, the concept of actionability has become a primary framework for assessing whether genetic data is useful and appropriate to return to patients. Despite the popularity of this concept, there is little consensus about what should count as “actionable” information. This is particularly true in population genomic screening, where there is considerable disagreement about what counts as good evidence and which clinical actions are appropriate for which patients. The pathway from scientific evidence to clinical action is not straightforward—it is as much social and political as it is scientific. This research explores the social dynamics shaping the integration of “actionable” genomic data into primary care settings. Based on semi-structured interviews with 35 genetics experts and primary care providers, we find that clinicians vary in how they define and operationalize “actionable” information. There are two main sources of disagreement. First, clinicians differ on the levels and types of evidence required for a result to be actionable, such as when we can be confident that genomic data provides accurate information. Second, there are disagreements about the clinical actions that must be available so that patients can benefit from that information. By highlighting the underlying values and assumptions embedded in discussions of actionability for genomic screening, we provide an empirical basis for building more nuanced policies regarding the actionability of genomic data in terms of population screening in primary care settings. MDPI 2023-02-04 /pmc/articles/PMC9959215/ /pubmed/36836524 http://dx.doi.org/10.3390/jpm13020290 Text en © 2023 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
Owens, Kellie
Sankar, Pamela
Asfaha, Dina M.
How Clinicians Conceptualize “Actionability” in Genomic Screening
title How Clinicians Conceptualize “Actionability” in Genomic Screening
title_full How Clinicians Conceptualize “Actionability” in Genomic Screening
title_fullStr How Clinicians Conceptualize “Actionability” in Genomic Screening
title_full_unstemmed How Clinicians Conceptualize “Actionability” in Genomic Screening
title_short How Clinicians Conceptualize “Actionability” in Genomic Screening
title_sort how clinicians conceptualize “actionability” in genomic screening
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959215/
https://www.ncbi.nlm.nih.gov/pubmed/36836524
http://dx.doi.org/10.3390/jpm13020290
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