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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000 Research Limited
2018
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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. |
format | Online Article Text |
id | pubmed-6381441 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | F1000 Research Limited |
record_format | MEDLINE/PubMed |
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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