Final Report Summary - CAPABILITY (Capacity building for the transfer of genetic knowledge into practice and prevention: an international collaborative network)
Human genome research is leading to the rapidly increasing translation of genetic / genomic data into clinical application. Genetic tests have been developed for the vast majority of recognised genetic conditions, including DNA-based tests for more than 1 100 diseases, with more than 1 000 currently available for clinical testing.
The number of DNA-based tests performed annually in Europe is now over 700 000 and is increasing. The economic dimensions of this activity is estimated around EUR 900 000 28 000 000 / million citizens / year and is expected to grow rapidly by the next decade.
Although the majority of these tests are used for the diagnosis of rare disorders, a growing number of tests have broader population based applications including predictive testing for inherited risk for common disorders, carrier identification and pharmacogenetic testing for variations in drug response.
These genetic tests and other anticipated applications of genome technologies for screening and prevention will impact on the future provision of primary care and prevention services. The EU faces the dual challenge of developing adequate standards for genetic testing while bridging the national, socioeconomic and sociocultural and linguistic differences of its Member States.
CAPABILITY's overall objectives were to contribute to the efforts to establish and sustain a worldwide harmonisation process for developing genetic services and quality standards for the integration of genetic test / genomic knowledge applications into practice and prevention and to serve as a model project for successful, sustainable collaboration between EU research centres and centres from developing countries.
CAPABILITY has successfully established an international multidisciplinary working group that will continue to collaborate. Over the three years funding period CAPABILITY has evolved into an expanding international network that includes representatives from Argentina, China (People's Republic of China and Hong Kong), Egypt, Germany, Philippines, South Africa, Sweden, United Kingdom and the US. The network is linked to NoE EuroGentest.
The CAPABILITY network will continue to collaborate and foster cooperation and partnerships beyond the EC funding period (2007-2009) in order to improve the translation of genetic knowledge into healthcare, education and health policy at an international level.
The CAPABILITY network will continue collaboration via the following projects: a joint survey on 'Genetic Services in Emerging Economies' (GenTEE) in cooperation with the EC's Joint Research Centre (JRC), Institute for Consumer Health and Protection (IHCP), Ispra, Italy. The survey starts in 2010. The GenTEE project is part of the proposed coordination and support action 'EuroGentest2' (2010-2013); The GenTEE project will include new partners from India and the Middle East. An international project for developing a health needs assessment (HNA) 'toolkit' for middle- and low-income countries. This is a five-year multi-partner collaboration to improve services via a systematic HNA approach and reduce morbidity, mortality and other impacts associated with congenital / genetic disorders in low and middle income countries which bear the burden of the disorders; the project has been submitted for funding in 2009 to the UBS Optimum Foundation and has gone through the first stage of selection. The project has been designed and will be coordinated by the PHG Foundation, Cambridge, United Kingdom (R. Zimmern, chairman of the PHG Foundation, is a member of the CAPABILITY working group).
CAPABILITY has developed a model approach for capacity building that is sensitive to specific country contexts including in particular addressing the assessed magnitude of health needs, health service patterns, available resources and capacities, gaps in service provision, professional and expert knowledge, cultural and social attitudes.
Evidence suggests that developing countries have not used formal HNA to inform the planning and development of genetic services before CAPABILITY. This is possibly due to limited cogent literature on HNA and available examples of its application to medical genetic prior to CAPABILITY. The CAPABILITY approach to HNA is a significant step towards alleviating this situation and its application could significantly assist countries to develop their medical genetic services.
The CAPABILITY capacity model approach has been implemented into the health service plan for medical genetic services by the Argentinean Ministry of Health (MoH). The MoH - based upon the results of the Chaco outreach project - has decided to implement and support medical genetic care programmes, including new laboratory services, in four provinces in north-east Argentina.
The knowledge and experience gained from the South African demonstration project has serious implications for the development of genetic services in South Africa, showing how severely affected are primary and secondary care services by staff shortages (migration / brain drain) and the HIV / AIDS and TB epidemics. Developing appropriate medical genetic services is difficult in these circumstances. Based upon the outcome CAPABILITY has recommended during a meeting with the National Department of Health that HNA would be an objective way to clarify matters and plan future genetic services. Based upon this recommendations, the Department of Health is seeking funds to undertake an HNA in more provinces.
The CAPABILITY model approach - which is currently distributed - has gained momentum and is being adopted by participating developing countries (in Argentina for medical genetic service development, in South Africa to assess the magnitude of 37 needs and to identify service gaps via HNA in defined regions). This comes at a time when the World Health Organization's (WHO's) executive board has recommended in 2009 the prioritisation of genetic services and genetic in developing countries for the management and prevention of genetic / congenital disorders to assist them to attain their millennium development goal (MDG) 4.
One of the great strength that the CAPABILITY consortium brings to the dissemination strategy is its unique network of functions and contacts the participants have on national, European and global levels. From its very start CAPABILITY has aimed at transparency and open access to information. Therefore, CAPABILITY website has been accessible to the public from the start of the project in 2007 and will be maintained until 2013.
The number of DNA-based tests performed annually in Europe is now over 700 000 and is increasing. The economic dimensions of this activity is estimated around EUR 900 000 28 000 000 / million citizens / year and is expected to grow rapidly by the next decade.
Although the majority of these tests are used for the diagnosis of rare disorders, a growing number of tests have broader population based applications including predictive testing for inherited risk for common disorders, carrier identification and pharmacogenetic testing for variations in drug response.
These genetic tests and other anticipated applications of genome technologies for screening and prevention will impact on the future provision of primary care and prevention services. The EU faces the dual challenge of developing adequate standards for genetic testing while bridging the national, socioeconomic and sociocultural and linguistic differences of its Member States.
CAPABILITY's overall objectives were to contribute to the efforts to establish and sustain a worldwide harmonisation process for developing genetic services and quality standards for the integration of genetic test / genomic knowledge applications into practice and prevention and to serve as a model project for successful, sustainable collaboration between EU research centres and centres from developing countries.
CAPABILITY has successfully established an international multidisciplinary working group that will continue to collaborate. Over the three years funding period CAPABILITY has evolved into an expanding international network that includes representatives from Argentina, China (People's Republic of China and Hong Kong), Egypt, Germany, Philippines, South Africa, Sweden, United Kingdom and the US. The network is linked to NoE EuroGentest.
The CAPABILITY network will continue to collaborate and foster cooperation and partnerships beyond the EC funding period (2007-2009) in order to improve the translation of genetic knowledge into healthcare, education and health policy at an international level.
The CAPABILITY network will continue collaboration via the following projects: a joint survey on 'Genetic Services in Emerging Economies' (GenTEE) in cooperation with the EC's Joint Research Centre (JRC), Institute for Consumer Health and Protection (IHCP), Ispra, Italy. The survey starts in 2010. The GenTEE project is part of the proposed coordination and support action 'EuroGentest2' (2010-2013); The GenTEE project will include new partners from India and the Middle East. An international project for developing a health needs assessment (HNA) 'toolkit' for middle- and low-income countries. This is a five-year multi-partner collaboration to improve services via a systematic HNA approach and reduce morbidity, mortality and other impacts associated with congenital / genetic disorders in low and middle income countries which bear the burden of the disorders; the project has been submitted for funding in 2009 to the UBS Optimum Foundation and has gone through the first stage of selection. The project has been designed and will be coordinated by the PHG Foundation, Cambridge, United Kingdom (R. Zimmern, chairman of the PHG Foundation, is a member of the CAPABILITY working group).
CAPABILITY has developed a model approach for capacity building that is sensitive to specific country contexts including in particular addressing the assessed magnitude of health needs, health service patterns, available resources and capacities, gaps in service provision, professional and expert knowledge, cultural and social attitudes.
Evidence suggests that developing countries have not used formal HNA to inform the planning and development of genetic services before CAPABILITY. This is possibly due to limited cogent literature on HNA and available examples of its application to medical genetic prior to CAPABILITY. The CAPABILITY approach to HNA is a significant step towards alleviating this situation and its application could significantly assist countries to develop their medical genetic services.
The CAPABILITY capacity model approach has been implemented into the health service plan for medical genetic services by the Argentinean Ministry of Health (MoH). The MoH - based upon the results of the Chaco outreach project - has decided to implement and support medical genetic care programmes, including new laboratory services, in four provinces in north-east Argentina.
The knowledge and experience gained from the South African demonstration project has serious implications for the development of genetic services in South Africa, showing how severely affected are primary and secondary care services by staff shortages (migration / brain drain) and the HIV / AIDS and TB epidemics. Developing appropriate medical genetic services is difficult in these circumstances. Based upon the outcome CAPABILITY has recommended during a meeting with the National Department of Health that HNA would be an objective way to clarify matters and plan future genetic services. Based upon this recommendations, the Department of Health is seeking funds to undertake an HNA in more provinces.
The CAPABILITY model approach - which is currently distributed - has gained momentum and is being adopted by participating developing countries (in Argentina for medical genetic service development, in South Africa to assess the magnitude of 37 needs and to identify service gaps via HNA in defined regions). This comes at a time when the World Health Organization's (WHO's) executive board has recommended in 2009 the prioritisation of genetic services and genetic in developing countries for the management and prevention of genetic / congenital disorders to assist them to attain their millennium development goal (MDG) 4.
One of the great strength that the CAPABILITY consortium brings to the dissemination strategy is its unique network of functions and contacts the participants have on national, European and global levels. From its very start CAPABILITY has aimed at transparency and open access to information. Therefore, CAPABILITY website has been accessible to the public from the start of the project in 2007 and will be maintained until 2013.
