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The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice

Initial genomewide association studies were exceptional owing to an ability to yield novel and reliable evidence for heritable contributions to complex disease and phenotype. However the top results alone were certainly not responsible for a wave of new predictive tools. Despite this, even studies s...

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Autores principales: Timpson, Nicholas John, Dudbridge, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381441/
https://www.ncbi.nlm.nih.gov/pubmed/30828643
http://dx.doi.org/10.12688/wellcomeopenres.14870.1
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author Timpson, Nicholas John
Dudbridge, Frank
author_facet Timpson, Nicholas John
Dudbridge, Frank
author_sort Timpson, Nicholas John
collection PubMed
description Initial genomewide association studies were exceptional owing to an ability to yield novel and reliable evidence for heritable contributions to complex disease and phenotype. However the top results alone were certainly not responsible for a wave of new predictive tools. Despite this, even studies small by contemporary standards were able to provide estimates of the relative contribution of all recorded genetic variants to outcome. Sparking efforts to quantify heritability, these results also provided the material for genomewide prediction. A fantastic growth in the performance of human genetic studies has only served to improve the potential of these complex, but potentially informative predictors. Prompted by these conditions and recent work, this letter explores the likely utility of these predictors, considers how clinical practice might be altered through their use, how to measure the efficacy of this and some of the potential ethical issues involved. Ultimately we suggest that for common genetic variation at least, the future should contain an acceptance of complexity in genetic architecture and the possibility of useful prediction even if only to shift the way we interact with clinical service providers.
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spelling pubmed-63814412019-03-01 The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice Timpson, Nicholas John Dudbridge, Frank Wellcome Open Res Open Letter Initial genomewide association studies were exceptional owing to an ability to yield novel and reliable evidence for heritable contributions to complex disease and phenotype. However the top results alone were certainly not responsible for a wave of new predictive tools. Despite this, even studies small by contemporary standards were able to provide estimates of the relative contribution of all recorded genetic variants to outcome. Sparking efforts to quantify heritability, these results also provided the material for genomewide prediction. A fantastic growth in the performance of human genetic studies has only served to improve the potential of these complex, but potentially informative predictors. Prompted by these conditions and recent work, this letter explores the likely utility of these predictors, considers how clinical practice might be altered through their use, how to measure the efficacy of this and some of the potential ethical issues involved. Ultimately we suggest that for common genetic variation at least, the future should contain an acceptance of complexity in genetic architecture and the possibility of useful prediction even if only to shift the way we interact with clinical service providers. F1000 Research Limited 2018-10-31 /pmc/articles/PMC6381441/ /pubmed/30828643 http://dx.doi.org/10.12688/wellcomeopenres.14870.1 Text en Copyright: © 2018 Timpson NJ and Dudbridge F http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Open Letter
Timpson, Nicholas John
Dudbridge, Frank
The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
title The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
title_full The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
title_fullStr The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
title_full_unstemmed The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
title_short The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
title_sort genetic sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice
topic Open Letter
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381441/
https://www.ncbi.nlm.nih.gov/pubmed/30828643
http://dx.doi.org/10.12688/wellcomeopenres.14870.1
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