title: 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.
authors.affiliation: CSIRO Preventative Health Flagship and CSIRO Computational Informatics, Sydney, NSW 2113, Australia. Electronic address: Denis.Bauer@CSIRO.au.
authors.forename: Denis C
authors.initials: DC
authors.lastname: Bauer
authors.affiliation: The Walter and Eliza Hall Institute, Parkville, VIC 3052, Australia.
authors.forename: Clara
authors.initials: C
authors.lastname: Gaff
authors.affiliation: Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
authors.forename: Marcel E
authors.initials: ME
authors.lastname: Dinger
authors.affiliation: School of Medical Sciences, University of New South Wales, Sydney, Australia; Laverty/SDS Pathology, 60 Waterloo Road, North Ryde, NSW 2113, Australia.
authors.forename: Melody
authors.initials: M
authors.lastname: Caramins
authors.affiliation: Cancer Research Division, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
authors.forename: Fabian A
authors.initials: FA
authors.lastname: Buske
authors.affiliation: CSIRO Preventative Health National Research Flagship, Adelaide, SA 5000, Australia; CSIRO Animal, Food, and Health Sciences, Gate 13 Kintore Avenue, Adelaide, SA 5000, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Fenech
authors.affiliation: Australian E-Health Research Centre and CSIRO Computational Informatics, Herston, QLD 4029, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Hansen
authors.affiliation: CSIRO Preventative Health National Research Flagship, Adelaide, SA 5000, Australia.
authors.forename: Lynne
authors.initials: L
authors.lastname: Cobiac
mesh_terms: D003695:Delivery of Health Care / Q000379:methods*; D057286:Electronic Health Records; D023281:Genomics / Q000379:methods* / Q000639:trends; D006801:Humans; D015596:Nutrition Assessment; D057285:Precision Medicine; D012307:Risk Factors
keywords: clinical genomics; digital health services; genomic profiling; personalised health; preventative health; risk prediction