On 13th and 14th June 2014, the 14th international genomics science conference was held in Tartu. This year’s event was titled “Omics Meets Genomics”. According to Tõnu Esko, chairman of the science committee of the conference, the title refers to a paradigm shift in genomics – we have reached an era in which the cost of determining the complete sequence of the 6 billion nucleotides of the 46 human chromosomes is less than collecting its phenotype data. This, in turn, opens the door to entirely new questions in the fields of biomedicine, molecular biology and population genetics. What is more, in modern genomics the focus has shifted from studying diseases to analysing cellular parameters, because it is the latter that more accurately reflect changes in molecular signalling pathways and help to get a grip on the pathogenesis of diseases.

The conference programme focused on six primary platforms of high-density molecular analysis – epigenomics, glycomics, metabolomics, metagenomics, proteomics and transcriptomics to describe the role of these methods in getting a more elaborate picture of gene regulatory mechanisms and to identify biomarkers that, in practice, would allow for more accurate prognosis of health risks. 217 researchers, doctors, students, healthcare officials, managers and investors from Estonia and abroad were present at the conference, which featured 19 speakers from Europe and North America.

One of the key speakers, Prof. Geoffrey Ginsburg, a world-renowned personal medicine expert and director of the Duke Institute for Genome Sciences and Policy, focused in his presentation on the application of genomics in conventional medicine. According to him, using and sharing genomics and pharmacogenomics data, compiling digital personal medicine forms and getting patients involved open up entirely new avenues for the development of clinical diagnostics. In Ginsburg’s view, academic medical centres have a central role in this process.

Another key speaker was Prof. Mark Daly, from the Broad Institute, who is regarded as a pioneer in the field of analysis methods in modern genomics, in terms of programme as well as statistical standards development. In his presentation he discussed the latest developments in the genetics of psychiatric disorders and the potential of genetic research in unlocking the biological causes of diseases.

Two new and rapidly progressing genomics fields – genoeconomics and metagenomics – were introduced at this year's Gene Forum. Dr. David Cesarini from New York University, a specialist in genoeconomics – a field combining human genetics and economics, covered the opportunities and risks of genetic background studies in social sciences, focusing on the genetics of behaviour patterns in man and research methodology in this field. In the field of metagenomics – the study of microbiological communities of organisms, Dr. Manimozhiyan Arumugam from the University of Copenhagen gave an overview of recently discovered connections between the microbiome of the human digestive track, various diseases and the human DNA sequence variation.

Topics traditionally addressed at the Gene Forum, such as evolutionary and population genetics, systems biology, gene sequence variations and statistical genetics, were also featured in the programme.

Estonian researchers were represented at the conference by Dr. Krista Fischer, senior researcher at the Estonian Genome Centre of the University of Tartu, who specialises in statistical modelling based on data from various -omics fields. In her presentation she discussed the use of molecular biomarkers in calculating disease risks on the example of type II diabetes. Another of her examples was based on the connection between four biomarkers and the mortality rate of various diseases, analysing the possibilities and limitations of using such markers.