| Literature DB >> 24801560 |
Denis C Bauer1, Clara Gaff2, Marcel E Dinger3, Melody Caramins4, Fabian A Buske5, Michael Fenech6, David Hansen7, Lynne Cobiac8.
Abstract
Genome sequencing has the potential for stratified cancer treatment and improved diagnostics for rare disorders. However, sequencing needs to be utilised in risk stratification on a population scale to deepen the impact on the health system by addressing common diseases, where individual genomic variants have variable penetrance and minor impact. As the accuracy of genomic risk predictors is bounded by heritability, environmental factors such as diet, lifestyle, and microbiome have to be considered. Large-scale, longitudinal research programmes need to study the intrinsic properties between both genetics and environment to unravel their risk contribution. During this discovery process, frameworks need to be established to counteract unrealistic expectations. Sufficient scientific evidence is needed to interpret sources of uncertainty and inform decision making for clinical management and personal health. CrownEntities:
Keywords: clinical genomics; digital health services; genomic profiling; personalised health; preventative health; risk prediction
Mesh:
Year: 2014 PMID: 24801560 DOI: 10.1016/j.molmed.2014.04.001
Source DB: PubMed Journal: Trends Mol Med ISSN: 1471-4914 Impact factor: 11.951