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Genomics and personalised whole-of-life healthcare

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.

Type Journal
Authors Bauer, D. C. ; ; Gaff, C.; Dinger, M. E.; Caramins, M.; ; Buske, F. A.; ; Fenech, M.; ; Hansen, D.; Cobiac, L
Publisher Name TRENDS IN MOLECULAR MEDICINE
Published Date 2014-09-01 00:00:00
Status Published in-print
DOI 10.1016/j.molmed.2014.04.001
URL link to publisher's version http://dx.doi.org/10.1016/j.molmed.2014.04.001
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/12213