Public Health Genomics and Personalized Healthcare: a pipeline from cell to society

Truly personalized healthcare facilitating the management of personal health drives a fundamental change not just in what is known but also in how we think of ourselves and the way we are living, thus redefining our society (1) . We have to prepare now – just in time! – for all the various organizational changes ahead of us. The political will is there. However, the real paradigm shift depends on the willingness to restructure our current policies, to support knowledge transfer to maximize benefit to public health, and – most important – to change our minds. So far, all stakeholders including policy-makers and the private sector are struggling to translate the emerging knowledge into public health. Public Health Genomics (PHG) is the area of public health ensuring that scientific advances in genomics ( “ from cell ... ” ) triggered by innovative technologies are timely, effectively and responsibly translated into health policies and practice for the benefit of population health ( “ ... to society ” ). But, what evidence emerging from basic sciences needs to be translated ? New insights are being obtained from genomics, proteomics, transcriptomics, metabolomics, epigenomics, microbiomics, and other “ omics ” technologies. As these data are integrated through the use of information and communication technologies (ICT), we are at the edge of achieving an understanding of the systems biology and systems biomedicine of human health and disease that also incorporates environmental contributions such as lifestyle, toxic agents, social and economic factors, as well as health systems determinants. In this way, we can begin to envisage new approaches to the promotion and management of human health across the entire life course of an individual. Indeed, we can now consider a future involving truly personalized healthcare in which technological advances are placed at the service of population health. The evidence we now require to demonstrate the benefit of new technologies will need to follow a new paradigm, however. What is required is an assessment of individual benefit rather than overall effects in large populations or even subpopulations of patients. Thus, public health assessment and evaluation tools must now address concepts such as “ personal utility ” rather than clinical utility. These developments and the involvement of the patient brought forward the concept of P4 (predictive, preventive, personalized and participatory) medicine serving already as a blueprint for Public Health Genomics to prepare healthcare systems and policy-makers for this shift in our approach to healthcare. The P4 medicine is no longer a vision, it is a mission! We can and should go beyond the P4 medicine and recognize in the light of a “ systems approach to public health ” , that (2) : – Common complex diseases can be considered in terms of a constellation of “ rare ” diseases, each of which reflects a complex biological system. – We are moving away from a traditional classification of disease and towards groups of shared pathology that can be described as “ diseasomes ” or disease nodes. – We are moving away from a focus on risk factors within biostatistical models of populations and towards an emphasis of individual pathways or networks. – It is time to emphasize personal rather than clinical utility.