2.10 Technological developments

2.10.1. Human genomics and other “omics” technologies

The Human Genome Project, the development of new genetic tests, DNA chip technologies and related technologies offer new opportunities for the promotion of population health which will lead to fundamental challenges in the healthcare delivery systems. Medicine and public health get an increasing insight into the biological factors which drive disease mechanisms, in particular in the field of cancer. As we see a clear need to adjust concepts in the understanding of health and diseases as well as concepts of prevention and health service delivery, the emerging genome-based knowledge and technologies call for a paradigm shift in public health. As a consequence, we can describe a dichotomy: genomics needs to understand how it can include public health aspects in its work programme, while public health needs to analyse how genomics changes the concept of public health. The second approach is seen as the core task of Public Health Genomics (PHG). Still there is an interdependency between the two directions, e.g. as Public Health services, surveillance, the education of the professions and the genetic health literacy of the lay population.

A comprehensive healthcare which regards, besides environmental, social and lifestyles factors, genetic determinants will become essential as it creates new opportunities for target-oriented and individualised strategies in preventive medicine and early detection of illnesses. The integration of genome-based knowledge and technologies will change primary, secondary and tertiary prevention. Inter alia, disease prevention programme and clinical interventions will be specifically targeted at susceptible individuals, families and sub-entities of populations based on their genomic risk profile. The upcoming post-genomic healthcare system also challenges the existing concepts of surveillance and health statistics. So far, there are still no indicators for the implementation of genomics into public health. Indicators and statistical material are needed for secondary health data such as the exposure to toxic substances (toxicogenomics) or the impact o food on human health (nutrigenomics). Current health statistics and surveillance systems do not cover underlying biological factors of diseases such as genomic variants. The occurrence of pleiotropic effects demonstrates that it may not be sufficient to measure the prevalence of diseases if the surveillance is purely based on phenotypic effects.

The future use of indicators and health statistics will also depend on the level of individualisation in healthcare systems. Indicators and statistics can only be used if the genomic risk stratification shows outcomes which lead to the description of groups individual prevention programmes based on the individual genomic profile.

So far healthcare systems, policy makers and industries are not prepared for the conceptual change and all stakeholders are struggling to transfer the emerging knowledge into clinical and technological applications. Public Health Genomics advocates the interdisciplinary discourse and the understanding of genomics; it fosters progress in translational research and supports the introduction of new concept of risk stratification and prevention.

The development of high-grade “omics” technologies has enabled scientists to gain new insights into the genetic of fundamental biological processes of plants and plant pathogens. The development of additional tools is likely to gain a deeper understanding of the functioning and regulation of genes and their products in developmental , environmental and evolutionary contexts. Moreover, findings from model systems may be transferred into plants of agronomic importance, in order to optimise the genetic makeup of crops, e.g. improve nutrient/water use efficiency, resistance to biotic/abiotic stresses and the quality of end products. Bioinformatics is essential to exploit the huge amount of quantitative data generated by high-throughput studies. The storage, organisation and interpretation of this information in standard and easily accessible forms as well as its configuration into interactive models represent a particular challenge.

High-grade “omics” technologies in farm animals and their pathogens are also in full development, giving to animal scientists the genetic base of farm animal biology and production. The generation of additional animal genome sequences may need to be supported. There is a need to develop more sequence data, ‘single nucleotide polymorphism’ (SNP) and phenotype databases. The long term annotation and duration of the genomics data to make sure that it remains up to date, reliable and available needs to be addressed. The advances need the right tools for properly exploiting farm animal genomics. These may include functional and comparative genomics and/or in silico analysis to dissect the genetic basis of one or more specified traits. The global body of bioinformatics data is an increasingly critical input for bio-economy, even more so in the current period of high-throughput data collection and due to the need for complex analysis in ‘omics’ technologies.

Analysis and exploitation of biodiversity is a distinctive part of the sustainable use of biological resources, which can be supported and improved by new tools, in particular ‘omics’ technologies. The purpose is to identify, protect and use biodiversity, either for the conservation of relevant genetic and biological resources particularly in plants and animals (including fish and aquaculture), for improved use for agricultural purposes (e.g. improvement of specific traits for sustainable production of plants and livestock; soil microbiology), or for innovation in varieties and products, e.g. bioactive molecules.