Genomics and personalised whole-of-life healthcare

• Technical advances utilising genomics promise personalised, evidence-based healthcare.
• Overstatements for common diseases risk/outcome prediction triggered regulations.
• Risk-stratified intervention is a realistic strategy for targeting common diseases.
• Electronic health records can aid curating cohorts for whole-of-life risk predictors.

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.