The current shift in health care towards a systemic and holistic understanding of the aetiology of diseases (“systems thinking”) is a scientific revolution. Systems biomedicine triggered by next-generation sequencing technologies is likely to become the leading health care paradigm in the next decades.
It will help to reshape research, policy-making and practice (“from cell to society”) in a fundamental way. A comprehensive model of future health care that takes into account integrative genomics alongside with environmental, social and life style factors will become essential in order to enable a new approach towards personalized strategies in the prevention, early detection and treatment of disease.
The rapidly evolving field of epigenomics is contributing to the understanding of genome-environmental interactions and the biological phenotype. Most interestingly, it suggests measurable mechanisms whereby environmental factors, such as stress, nutrients, toxic agents or a virus, can influence gene expression. Furthermore, these potential epigenetic modifications can occur throughout the life-time of the organism, beginning as early as the intrauterine environment, and can accumulate in tissues and cells over time. They may also help to explain the differences in health or disease risk patterns between individuals.
In addition, recent advances in systems biology indicate that specific cellular functions are infrequently carried out by single genes, but rather usually by groups of cellular components. This network-based research is already starting to change nosology. Seemingly dissimilar diseases and health outcomes are being lumped together. What were thought to be single diseases are being split into separate ailments. The approach offers a novel method for human disease classification. It defines disease expression on the basis of its molecular and environmental elements in a holistic way. This knowledge will not only enable clinical interventions but also health promotion messages and disease prevention programmes to be targeted at susceptible individuals as well as subgroups of the population (personalized health care).
Translating theory into practice
So far, all stakeholders, including policy-makers and the private sector, are struggling to translate the emerging knowledge into clinical, public health and technological applications. Public Health Genomics (PHG) is a new area of public health, vital when it has to be ensured that scientific advances in genomics (“from cell...”) triggered by innovative technologies are timely, effectively and responsibly translated into health policies and practice (“…to society”).
Public Health Genomics, which is the responsible and effective translation of genome-based knowledge and technologies into health policies and health care for the benefit of population health, rethinks all Public Health tasks in the light of the new developments in genomics and genome-based technologies, such as high-throughput sequencing. The coherent and consistent evidence-based development of health policies enables the program to foster and monitor the assurance of innovative policies on personalised, predictive, preemptive and participatory interventions in Public Health on the national, European and international level. The various stakeholders in Public Health play a key role in translating the implications of genomics such as deriving from systems biology, epigenomics, personal-genome tests, integrative genomics and genomeenvironmental interactions.
The upcoming era of knowledge implementation requires increased concerted activities in this field. The European Centre for Public Health Genomics (ECPHG) and the Public Health Genomics European Network (PHGEN, www.phgen.eu), aim to fulfill this task in Europe.