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Generalisation of genomic findings and applications of polygenic risk scores

Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their likely application to precision medicine remains to be established, promising advances have...

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Detalles Bibliográficos
Autores principales: Corpas, Manuel, Fatumo, Segun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10386601/
https://www.ncbi.nlm.nih.gov/pubmed/37507694
http://dx.doi.org/10.1186/s12920-023-01615-7
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author Corpas, Manuel
Fatumo, Segun
author_facet Corpas, Manuel
Fatumo, Segun
author_sort Corpas, Manuel
collection PubMed
description Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their likely application to precision medicine remains to be established, promising advances have included their ability to stratify high risk individuals and targeted screening interventions. Current PRS have been mostly optimised for individuals of Northern European ancestries. If PRS are to become widespread as a tool for healthcare applications, more diverse populations and greater capacity for derived interventions need to be accomplished. In this editorial we aim to attract submissions from the research community that highlight current challenges in development of PRS applications at scale. We also welcome manuscripts that delve into the ethical, social and legal implications that the implementation of PRS may generate.
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spelling pubmed-103866012023-07-30 Generalisation of genomic findings and applications of polygenic risk scores Corpas, Manuel Fatumo, Segun BMC Med Genomics Editorial Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their likely application to precision medicine remains to be established, promising advances have included their ability to stratify high risk individuals and targeted screening interventions. Current PRS have been mostly optimised for individuals of Northern European ancestries. If PRS are to become widespread as a tool for healthcare applications, more diverse populations and greater capacity for derived interventions need to be accomplished. In this editorial we aim to attract submissions from the research community that highlight current challenges in development of PRS applications at scale. We also welcome manuscripts that delve into the ethical, social and legal implications that the implementation of PRS may generate. BioMed Central 2023-07-28 /pmc/articles/PMC10386601/ /pubmed/37507694 http://dx.doi.org/10.1186/s12920-023-01615-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Editorial
Corpas, Manuel
Fatumo, Segun
Generalisation of genomic findings and applications of polygenic risk scores
title Generalisation of genomic findings and applications of polygenic risk scores
title_full Generalisation of genomic findings and applications of polygenic risk scores
title_fullStr Generalisation of genomic findings and applications of polygenic risk scores
title_full_unstemmed Generalisation of genomic findings and applications of polygenic risk scores
title_short Generalisation of genomic findings and applications of polygenic risk scores
title_sort generalisation of genomic findings and applications of polygenic risk scores
topic Editorial
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10386601/
https://www.ncbi.nlm.nih.gov/pubmed/37507694
http://dx.doi.org/10.1186/s12920-023-01615-7
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