The Genetic Sphygmomanometer: an argument for routine genome-wide genotyping in the population and a new view on its use to inform clinical practice [version 1; referees: 2 approved, 1 approved with reservations]

• Main Authors: Nicholas John Timpson, Frank Dudbridge
• Format: Article
• Language: English
• Published: Wellcome 2018-10-01
• Series: Wellcome Open Research
• Online Access: https://wellcomeopenresearch.org/articles/3-138/v1

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.