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Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk

Psychiatric disorders present distinct clinical challenges which are partly attributable to their multifactorial aetiology and the absence of laboratory tests that can be used to confirm diagnosis or predict risk. Psychiatric disorders are highly heritable, but also polygenic, with genetic risk conf...

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Autores principales: Palk, A. C., Dalvie, S., de Vries, J., Martin, A. R., Stein, D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391805/
https://www.ncbi.nlm.nih.gov/pubmed/30813945
http://dx.doi.org/10.1186/s13010-019-0073-8
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author Palk, A. C.
Dalvie, S.
de Vries, J.
Martin, A. R.
Stein, D. J.
author_facet Palk, A. C.
Dalvie, S.
de Vries, J.
Martin, A. R.
Stein, D. J.
author_sort Palk, A. C.
collection PubMed
description Psychiatric disorders present distinct clinical challenges which are partly attributable to their multifactorial aetiology and the absence of laboratory tests that can be used to confirm diagnosis or predict risk. Psychiatric disorders are highly heritable, but also polygenic, with genetic risk conferred by interactions between thousands of variants of small effect that can be summarized in a polygenic risk score. We discuss four areas in which the use of polygenic risk scores in psychiatric research and clinical contexts could have ethical implications. First, there is concern that clinical use of polygenic risk scores may exacerbate existing health inequities. Second, research findings regarding polygenic risk could be misinterpreted in stigmatising or discriminatory ways. Third, there are concerns associated with testing minors as well as eugenics concerns elicited by prenatal polygenic risk testing. Fourth, potential challenges that could arise with the feedback and interpretation of high polygenic risk for a psychiatric disorder would require consideration. While there would be extensive overlap with the challenges of feeding back genetic findings in general, the potential clinical use of polygenic risk scoring warrants discussion in its own right, given the recency of this possibility. To this end, we discuss how lay interpretations of risk and genetic information could intersect. Consideration of these factors would be necessary for ensuring effective and constructive communication and interpretation of polygenic risk information which, in turn, could have implications for the uptake of any therapeutic recommendations. Recent advances in polygenic risk scoring have major implications for its clinical potential, however, care should be taken to ensure that communication of polygenic risk does not feed into problematic assumptions regarding mental disorders or support reductive interpretations.
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spelling pubmed-63918052019-03-11 Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk Palk, A. C. Dalvie, S. de Vries, J. Martin, A. R. Stein, D. J. Philos Ethics Humanit Med Review Psychiatric disorders present distinct clinical challenges which are partly attributable to their multifactorial aetiology and the absence of laboratory tests that can be used to confirm diagnosis or predict risk. Psychiatric disorders are highly heritable, but also polygenic, with genetic risk conferred by interactions between thousands of variants of small effect that can be summarized in a polygenic risk score. We discuss four areas in which the use of polygenic risk scores in psychiatric research and clinical contexts could have ethical implications. First, there is concern that clinical use of polygenic risk scores may exacerbate existing health inequities. Second, research findings regarding polygenic risk could be misinterpreted in stigmatising or discriminatory ways. Third, there are concerns associated with testing minors as well as eugenics concerns elicited by prenatal polygenic risk testing. Fourth, potential challenges that could arise with the feedback and interpretation of high polygenic risk for a psychiatric disorder would require consideration. While there would be extensive overlap with the challenges of feeding back genetic findings in general, the potential clinical use of polygenic risk scoring warrants discussion in its own right, given the recency of this possibility. To this end, we discuss how lay interpretations of risk and genetic information could intersect. Consideration of these factors would be necessary for ensuring effective and constructive communication and interpretation of polygenic risk information which, in turn, could have implications for the uptake of any therapeutic recommendations. Recent advances in polygenic risk scoring have major implications for its clinical potential, however, care should be taken to ensure that communication of polygenic risk does not feed into problematic assumptions regarding mental disorders or support reductive interpretations. BioMed Central 2019-02-27 /pmc/articles/PMC6391805/ /pubmed/30813945 http://dx.doi.org/10.1186/s13010-019-0073-8 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Palk, A. C.
Dalvie, S.
de Vries, J.
Martin, A. R.
Stein, D. J.
Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
title Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
title_full Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
title_fullStr Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
title_full_unstemmed Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
title_short Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
title_sort potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391805/
https://www.ncbi.nlm.nih.gov/pubmed/30813945
http://dx.doi.org/10.1186/s13010-019-0073-8
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