The Santorini Conferences are bringing together scientists from various origin interested in genetics and biological variations in man and its impact on the origin, prediction, prevention, diagnosis and therapy of human multifactorial disorders. The first event, held in 2002, was opened by Jean Dausset’s notes on predictive medicine and a lecture by Klaus Lindpaintner on the “Impact of Genetics and Genomics on Health Care”.
The second conference, in 2004, had Doug Wallace’s opening lecture on “Mitochondrial DNA Diversity in Health and Disease” as one of its notable highlights. The third conference, held in 2006, focused on the identification of novel molecular biomarkers as enabled by “Omics” approaches. Conferences in 2008, 2010, 2012 and 2014 were oriented around the concept of systems biology and applications to personalized health and therapy (be it pharmaceutical or nutritional).
The integration of Omics with genetics hold great potential to better understand the complex interplay between static genetic pre-disposition and dynamic environmental effects (e.g. nutritional, infections, xenobiotics) and the consequences for health maintenance, disease development and personalized therapy. Although progress has been made in our understanding of population variation and associated risk factors, in complex diseases, such as cancer, atherosclerosis, diabetes and brain disorders, their understanding remains the biggest challenge. Inflammation is often one of the major players. However changes in lifestyle and other environmental conditions, combined with genetic predisposition, appear to underlie the most recent epidemics of chronic disease and may hold the key to influencing the trends in their incidence and management. In addition, infectious diseases particularly viral ones represent an important aspect of environment influence. Technological advancements have been profuse and must be considered as the foundation of current and future progress. Modern sequencing platforms, microarrays, high-throughput SNP detection technologies, gene transcript profiling, quantitative multiplexed proteomics, metabolomics analysis and cellular models are indispensable tools driving the rapid progress in personalized treatment and intervention.
The organization of an ever increasing information load is becoming as important as generating the underlying raw data. Establishing and managing databases and further improving the tools to retrieve, visualize, validate, interpret and cross-correlate the data are therefore becoming essential components in this scenario. Modelisation is necessary. It will be important and necessary to develop new specific softwares for predicting risk and interpreting the large amount of data. All these aspects are linked in the systems biology/systems medicine approach.
One of the greatest obstacles remaining is the setting up, funding and monitoring of large prospective, population-based cohort studies, comprising possibly several hundred thousand individuals, from whom DNA, plasma and cells will have to be collected and established in biobanks associated with high quality clinical data, GWAs are then possible. Upgrading diagnostic laboratories to incorporate these new technologies is already taking place. However, despite tremendous scientific efforts, as represented by the unprecedented speed with which new data are being generated, surprisingly little molecular research has so far been successfully translated into clinical practice. This deceiving finding has several reasons:
(i) Data do not equal information: the translation of the raw measurements into interpretable and actionable read-out is challenging;
(ii) Omics can deliver biomarker and target candidates without pre-conception; however, these candidates need to be validated and managed within research pipelines;
(iii) the acceptance of the new holistic concepts by health care professionals represents one of the major hurdles impeding the use of available pharmacogenetic/nutrigenetic/- genomic knowledge in reaching better informed treatment decisions.
Thus, it appears important not only to foster translational research but also to enable concurrent development and implementation of the necessary educational tools. The latter should ensure that molecular and personalized medicine/treatment is taught well and systematically applied in today’s health care systems. Whilst most would agree that this transition will take time, there is, however, no time to lose. On the basis of this introduction, our objectives, both general and specific, for the 2016 conference are outlined below: Bridging Omics And Genetics in a system biology approach To study the networks of interacting genes, proteins and biochemical reactions in physiological states or variable illnesses, particularly cardiovascular diseases, Alzheimer, infections and cancer).
To analyse the functional significance of gene polymorphisms and protein isoforms by studying gene and protein networks, and to link them to health maintenance, diseases predisposition or personalized therapy. To increase the knowledge of the interplay between genetic disposition, environment including infection (viral, bacterial, parasitological), nutritional factors and drug intake. To compare the results obtained by genome wide association studies with the case-control ones. To address the use of blood cells as a source of information and their exploitation as “sentinels” in the above contexts. To communicate state-of-the-art information on molecular markers for multifactorial diseases, pharmacogenomics and personalised medicine. To evaluate the comparison of diagnostic approach To assess the suitability of these markers for the prediction of physiological deviations such as obesity, of other disease risks and of drug response, including adverse side effects, at individual or population level.
To describe emerging laboratory tools for molecular analysis and their combination with imaging technologies for comprehensive health assessment including aging and monitoring of therapeutical intervention.