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Rise of scientific excellence and collaboration for implementing personalised medicine in Estonia

Periodic Reporting for period 2 - ePerMed (Rise of scientific excellence and collaboration for implementing personalised medicine in Estonia)

Reporting period: 2017-04-01 to 2019-02-28

Emerging personalised medicine initiatives have the perspective to cut healthcare costs and improve the overall health of the population. Taking into account the individual’s molecular characteristics complemented by environmental and lifestyle factors, will allow to develop more precise and improved disease prevention and treatment programs compared to conventional methods. Research opportunities provided by the unique sources of EGC-UT Biobank can be effectively translated into improved understanding of disease etiopathologies and clinical benefit through early diagnosis, risk stratification, treatment and management.
Estonian Genome Centre of the University of Tartu (EGC-UT, also known as Estonian Biobank) is a research institute of the University of Tartu whose aim is to promote the development of human genetic research, to collect information on health-related phenotypes and genotypes of the Estonian population. The activities of the EGC-UT are focused on using the data produced by state-of-art genomic research for implementation in medical practice with the purpose of improving the public health in Estonia and acting as a developer of personalised medicine in Europe.
In order to fully exploit the potential of Estonian Genome Centre it was crucial to:
• bring in international expertise in so far less covered fields of functional and statistical genomics of common and rare diseases;
• tighten the collaboration between medical community and scientists in translational genomics where EGCUT currently lacks experience and;
• improve the visibility of EGC-UT and build connections.
I order to improve EGC-UT future contribution to lowering the socio-economic burden, morbidity and mortality caused by common or rare diseases, the ePerMed project aimed at increasing and broadening the research and innovation excellence of EGC-UT. ePerMed partners applied a wide range of measures during the implementation of the project, to enhance the expected impacts: staff exchanges, expert visits, short-term onsite trainings, workshops for building soft skills and research excellence, workshops for building genetic related knowledge of medicals staff and medical students, attending conferences and meetings, collaboration meetings with industry partners, wide national and international dissemination and communication.
The ePerMed project has successfully achieved its goal in increasing the capacity of EGC-UT to move from the current research on the genome-wide association studies to advanced research of disease mechanisms and to public health benefits through early diagnosis, reliable risk stratification and improved treatment strategies. And this will enable EGC-UT to deliver effective personalised medicine across several clinically relevant phenotypic traits and diseases. EGC-UT researchers have made extensive work on generating genetic risk scores which could be later included in general medical practice. The ePerMed project has also been effective in encouraging closer collaboration with the whole medical community.
The ePerMed project is aimed at increasing the scientific excellence of EGC-UT by capitalising on knowledge transfer from two internationally renowned partners in the field of human and medical genomics – UNIL-CIG in Switzerland and UH-FIMM in Finland.
To achieve the main goal of the project, more detailed specific objectives were defined:
1. Exchange of know-how and experience through trans-national two way secondments of research staff
A total of ~30 person-months of staff exchanges in both directions were carried out during the project. Project partners held 6 joint events and 21 training seminars. During the visits EGC-UT researchers were able to establish and extend their research networks and explore future collaboration opportunities. Many of the visits also resulted in joint research projects or research plans, building a foundation for further collaborations.
2. To improve the connection between clinicians and genomic researchers through improving genetic and personalised medicine related knowledge of medical graduates and practicing clinicians.
Building connections with medical community was achieved through improving genetic and personalised medicine related knowledge of medical community by involving them in staff exchanges (total of 3,8 PM), MD workshops (3 WS) and other events held within the project. In addition, UH-FIMM researchers visited Estonia several times to give lectures and hands-on trainings to medical personnel.
3. To increase the soft skills of staff in order to enhance EGC-UT’s capacity to translate research results into clinical practice.
To build the soft skills of EGC-UT staff a total 4 events were held to train EGC–UT staff on following topics: science communication, H2020 grants, IPR, responsible research and ethics, research commercialisation and communication training.
4. To revise and elaborate a sustainable long-term development strategy for EGC-UT.
The sustainability plan compiled summarised the overview of potential funding opportunities, concluded the infrastructure developments and opportunities upraised from these, potential future research specialisation topics, collaboration networks with academia, industry and stakeholders, training and networking needs.
5. To increase the visibility of EGC-UT’s scientific excellence and its potential.
Throughout the project, members of the consortium actively participated in relevant networking events and conferences to introduce to the research community, industry partners (private sector), the results and objectives of the project and to promote EGC-UT as one of the leading international centres for genomic research. Communicating science to general public was a priority.
In the last few years increasing amount of attention has been placed on translating the results of human genomic research to improve public health and implementing personalised medicine. The rapidly developing genomics-driven approach to healthcare has potential for great benefits for patients, clinicians and public health systems alike. The benefits include (1) ability to make more informed and precise medical decisions, (2) higher probability of desired outcomes thanks to well-targeted therapies, (3) reduced probability of adverse reactions to medicines, (4) focus on prevention and prediction of disease, (5) earlier disease intervention and (6) improved healthcare cost containment.
As a foreseen result of the project, EGC-UT has increased the capacity to move from the current research on the genome-wide association studies to advanced research of disease mechanisms and to public health benefits through early diagnosis, reliable risk stratification and improved treatment strategies. Ultimately, this enables EGC-UT to deliver effective personalised medicine across several clinically relevant phenotypic traits and diseases. Thanks to ePerMed project, EGC-UT has had the opportunity to make first steps towards implementing personalised medicine in Estonia.
Together with increased visibility, ePerMed project has been a good starting point for international collaborations. This, together with national developments in personalised medicine, will give EGC-UT an opportunity to contribute to the increase of innovation capability and competitiveness of Europe in the fields of molecular epidemiology and personalised medicine.
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