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EUHEALTHGEN Résumé de rapport

Project ID: 518144
Financé au titre de: FP6-LIFESCIHEALTH
Pays: United Kingdom

Final Report Summary - EUHEALTHGEN (Harnessing the potential of human population genetics research to improve the quality of the EU citizen)

Member and Associated States across the European Research Area (ERA) are supporting research on population genetics in order to build upon the significant investments made in sequencing the human genome. The scope of these investments has been limited by the resources available and the size of the population being served. Significant added value can be obtained if the objectives and protocols involved in human population genetics research at a national level can be harmonised to become representative of the entire European Union (EU) population. The EU would thereby develop and maintain a leading global position in genetic epidemiology and population genetics. Advances in genetic medicine would be harnessed to improve public health and preventative healthcare for the EU citizen. The aim of the EUEALTHGEN Specific Support Action (SSA) was to plan, organise and hold an international conference that will review existing research in human population genetics across the ERA. It would identify related strengths and weaknesses, take stock of technologies and needs and help to build partnerships between existing and new national and international projects in the field. A forward-looking strategy for translating the outputs of population genetics research into clinically useful and health enhancing initiatives and for improving EU industrial competitiveness was to be developed. This strategy is inclusive, including all Member and Associated States and Associated Candidate Countries.

Human population genetics will play an important role in analysing the complex interactions that occur in determining susceptibility and cause of the priority disease areas. However, for this to be realised it will be necessary to ensure that the biobanks operating across Europe are compatible so that validated reagents, samples and information can be exchanged in a safe and ethically acceptable way. This provided further justification for the main aim of EUEALTHGEN, namely to develop a forward-looking strategy for translating the outputs of population genetics research into clinically useful and health enhancing initiatives, whilst improving EU industrial competitiveness in this area.

An international conference entitled 'From biobanks to biomarkers – Translating the potential of human population genetics research to improve the quality of health of the EU citizen' was held to promote the aims of this initiative. The conference programme was a mix of plenary lectures that reviewed the status of population genetics research and associated discussion sessions, designed to promote widespread debate on three topics identified as being of high priority. The objective was to engage as many of the conference participants as possible in an attempt to reach a consensus on these topics.

The first topic discussed concerned the expectations and goals for industry and healthcare. The overall conclusions were that Europe needs to invest in both the resources necessary to support population genetics research and the training and human capital to create research capacity in this important area. The Seventh Framework Programme (FP7) provides an ideal platform for making the required investments.

The second topic discussed concerned the future needs for resources and tools for statistical analysis. The conclusions made here reflected those made in the previous discussion and emphasised the need to increase training opportunities, particularly in statistical genetics so that capacity in this area across Europe could be improved. It was also concluded that improvements were needed in the legal and ethical frameworks for biobanks across Europe and that there should be better standardisation and quality control of data capture.

The final topic for discussion was about the research directions for the development of novel technologies and biomarkers, where the main conclusion was that better networking of existing and future biobanks across ERA should be a high priority for the European Commission (EC) and FP7. This would facilitate the development of suitable EU standards and guidelines that would help to integrate population genetic analyses into clinical trials and new drug and diagnostic test approval procedures.

The issues discussed at the conference and the conclusions made clearly demonstrated that the evidence base associated with human population genetics research needs to be further developed and consolidated as new and improved technologies are introduced. This cannot remain the responsibility of individual Member States and so greater emphasis needs to be placed on the creation of transnational and multi-disciplinary research collaborations between academia, health service providers, industry and governments in order to make the best use of the available resources.

Support for population genetics through the current proposed FP7 is therefore vital, particularly if the effective translation of research outputs into clinical applications was to be achieved. This support would provide the supporting infrastructure for research on fundamental genomics (to develop new techniques and technologies), translational research (to validate new protocols in a clinical environment and to make them economically viable, cost effective and readily available) and health services research (to develop methods for health promotion and prevention and so facilitate the introduction of sustainable and efficient healthcare systems).

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