Periodic Reporting for period 2 - ExACT (European network staff eXchange for integrAting precision health in the health Care sysTems)
Reporting period: 2022-09-01 to 2024-08-31
The ExACT project, focused on integrating precision health into healthcare systems, has significantly advanced the field through collaboration between academic and non-academic entities. Precision health aims to prevent and predict illness by utilizing advanced data science tools to translate research and clinical data into actionable insights for patients and doctors.
The project tackled five key areas:
• Integration of Big Data: Addressed both technical and ethical-legal aspects for incorporating big data into healthcare, with the goal of improving clinical decision-making.
• Citizen Engagement: Analyzed models that empower citizens in precision health, stressing the importance of meaningful participation to ensure healthcare policies align with community needs.
• Education for Healthcare Professionals: Identified essential competencies and developed educational models to enhance skills and knowledge in precision health.
• Health Technology Assessment (HTA): Promoted HTA approaches for omics technologies, ensuring the use of robust methodologies to evaluate their clinical utility.
• Ethical and Legal Considerations: Addressed data sharing and informed consent challenges, advocating for standardized practices to balance participant autonomy with societal benefits.
Overall, ExACT has laid the groundwork for exploring essential areas needed to implement precision health across Europe, strengthening partnerships for a more effective and equitable healthcare system.
We have developed a number of publications that are available on the ExACT project website http://www.exactproject.net/site/(opens in new window) along with a video explaining our research outcomes in a more accessible format https://youtu.be/B7IFlJ9Nskk?si=37c4bm0ORCRKThDY(opens in new window)
The project tackled five key areas:
• Integration of Big Data: Addressed both technical and ethical-legal aspects for incorporating big data into healthcare, with the goal of improving clinical decision-making.
• Citizen Engagement: Analyzed models that empower citizens in precision health, stressing the importance of meaningful participation to ensure healthcare policies align with community needs.
• Education for Healthcare Professionals: Identified essential competencies and developed educational models to enhance skills and knowledge in precision health.
• Health Technology Assessment (HTA): Promoted HTA approaches for omics technologies, ensuring the use of robust methodologies to evaluate their clinical utility.
• Ethical and Legal Considerations: Addressed data sharing and informed consent challenges, advocating for standardized practices to balance participant autonomy with societal benefits.
Overall, ExACT has laid the groundwork for exploring essential areas needed to implement precision health across Europe, strengthening partnerships for a more effective and equitable healthcare system.
We have developed a number of publications that are available on the ExACT project website http://www.exactproject.net/site/(opens in new window) along with a video explaining our research outcomes in a more accessible format https://youtu.be/B7IFlJ9Nskk?si=37c4bm0ORCRKThDY(opens in new window)
WP1 - Integration of Big Data and Digital Solutions in Healthcare
In Task 1.1 we evaluated the use of machine learning in public health, highlighting the growing interest and the need for standardized methodologies to optimize benefits for health systems. In Task 1.2 we assessed the feasibility of integrating omics and epidemiological data, focusing on achieving both technical and semantic interoperability while addressing critical data privacy concerns. In Task 1.3 we developed an ELSI (Ethical, Legal, and Social Issues) assessment framework to guide the integration of big data, with a particular focus on implementing electronic informed consent (eIC) forms to enable personalized interactions. In Task 1.4 we created policy recommendations for the effective use of health data by engaging clinicians, researchers, and policymakers.
WP2 - Innovative Citizen Engagement Models
In Task 2.1 we mapped active citizen engagement programs in precision health across the EU through a scoping review covering the period from January 2015 to July 2020. In Task 2.2 we assessed the feasibility and effectiveness of these engagement models by establishing Key Performance Indicators (KPIs). A literature review revealed a gap in precision health-specific KPIs, which led us to adjust the methodology for objective evaluations, carried out through focus group discussions with ExACT representatives. In Task 2.3 we developed a citizen engagement model aimed at improving communication between health professionals and citizens, ensuring that health policies reflect the needs and values of well-informed citizens.
WP3 - Education and Leadership for Healthcare Professionals in Precision Health
We analyzed the competencies required for healthcare professionals, identifying significant gaps in leadership skills. In Tasks 3.1 and 3.2 we examined the barriers and facilitators associated with the implementation of precision health, emphasizing the need for a systematic review of qualitative evidence. In Task 3.3 we focused on enhancing educational training for non-genetics specialists (such as general practitioners and nurses), identifying 24 studies on various educational methods but noting a lack of evaluation of long-term behavioral changes and practical applications.
WP4 - Adoption of Health Technology Assessment (HTA) for Omics Technologies
In Task 4.1 and 4.2 we conducted a systematic review of 22 frameworks for genetic technologies, identifying the ACCE framework as the most influential and we conducted a survey involving 41 health HTA agencies from 29 countries, focusing on their experiences in evaluating omics technologies.
WP5 - Ethical-Legal and Policy Issues in Precision Health
In Task 5.1 we performed a comparative analysis of guidelines related to NGS data sharing in Europe, the US, and Canada. In Task 5.2 we examined the use of electronic informed consent in biomedical research for NGS and genomic data. In Task 5.3 we conducted a survey to gather European citizens' attitudes toward precision health, personalized medicine, genetic testing, and mHealth technology, collecting responses from over 6,500 participants across eight languages.
In summary, the ExACT project has produced research across various work packages, addressing key areas in precision health, public health, and the integration of big data and digital solutions. These include evaluations of machine learning in public health, the integration of omics and epidemiological data, and the analysis of a comprehensive ethical framework for big data in healthcare. Further efforts have focused on innovative citizen engagement models, education and leadership development for healthcare professionals, adoption of health technology assessment for omics technologies, and ethical and legal considerations in precision health. We have developed a number of publications that are available on the ExACT project website http://www.exactproject.net/site/(opens in new window) along with a video explaining our research outcomes in a more accessible format: https://youtu.be/B7IFlJ9Nskk?si=37c4bm0ORCRKThDYWP1(opens in new window)
In Task 1.1 we evaluated the use of machine learning in public health, highlighting the growing interest and the need for standardized methodologies to optimize benefits for health systems. In Task 1.2 we assessed the feasibility of integrating omics and epidemiological data, focusing on achieving both technical and semantic interoperability while addressing critical data privacy concerns. In Task 1.3 we developed an ELSI (Ethical, Legal, and Social Issues) assessment framework to guide the integration of big data, with a particular focus on implementing electronic informed consent (eIC) forms to enable personalized interactions. In Task 1.4 we created policy recommendations for the effective use of health data by engaging clinicians, researchers, and policymakers.
WP2 - Innovative Citizen Engagement Models
In Task 2.1 we mapped active citizen engagement programs in precision health across the EU through a scoping review covering the period from January 2015 to July 2020. In Task 2.2 we assessed the feasibility and effectiveness of these engagement models by establishing Key Performance Indicators (KPIs). A literature review revealed a gap in precision health-specific KPIs, which led us to adjust the methodology for objective evaluations, carried out through focus group discussions with ExACT representatives. In Task 2.3 we developed a citizen engagement model aimed at improving communication between health professionals and citizens, ensuring that health policies reflect the needs and values of well-informed citizens.
WP3 - Education and Leadership for Healthcare Professionals in Precision Health
We analyzed the competencies required for healthcare professionals, identifying significant gaps in leadership skills. In Tasks 3.1 and 3.2 we examined the barriers and facilitators associated with the implementation of precision health, emphasizing the need for a systematic review of qualitative evidence. In Task 3.3 we focused on enhancing educational training for non-genetics specialists (such as general practitioners and nurses), identifying 24 studies on various educational methods but noting a lack of evaluation of long-term behavioral changes and practical applications.
WP4 - Adoption of Health Technology Assessment (HTA) for Omics Technologies
In Task 4.1 and 4.2 we conducted a systematic review of 22 frameworks for genetic technologies, identifying the ACCE framework as the most influential and we conducted a survey involving 41 health HTA agencies from 29 countries, focusing on their experiences in evaluating omics technologies.
WP5 - Ethical-Legal and Policy Issues in Precision Health
In Task 5.1 we performed a comparative analysis of guidelines related to NGS data sharing in Europe, the US, and Canada. In Task 5.2 we examined the use of electronic informed consent in biomedical research for NGS and genomic data. In Task 5.3 we conducted a survey to gather European citizens' attitudes toward precision health, personalized medicine, genetic testing, and mHealth technology, collecting responses from over 6,500 participants across eight languages.
In summary, the ExACT project has produced research across various work packages, addressing key areas in precision health, public health, and the integration of big data and digital solutions. These include evaluations of machine learning in public health, the integration of omics and epidemiological data, and the analysis of a comprehensive ethical framework for big data in healthcare. Further efforts have focused on innovative citizen engagement models, education and leadership development for healthcare professionals, adoption of health technology assessment for omics technologies, and ethical and legal considerations in precision health. We have developed a number of publications that are available on the ExACT project website http://www.exactproject.net/site/(opens in new window) along with a video explaining our research outcomes in a more accessible format: https://youtu.be/B7IFlJ9Nskk?si=37c4bm0ORCRKThDYWP1(opens in new window)
Biomedical and digital technologies hold great potential to improve healthcare and develop efficient, sustainable health systems. Precision health aims to prevent and predict illness using advanced tools to convert research and clinical data into actionable insights for citizens, patients, and doctors.
Implementing precision health requires extensive data and timely analysis to customize healthcare strategies. However, rising demands, demographic changes, and limited resources may exacerbate healthcare challenges. The European Steering Group on Sustainable Healthcare highlights the need to prioritize prevention, early diagnosis, and citizen engagement for participatory healthcare, though progress in Europe remains limited.
ExACT identified four priorities for precision health adoption:
Patient-Centered Care: Aligning health systems with individual needs.
Prevention Focus: Emphasizing early intervention.
Systematic Evaluation: Using Health Technology Assessment to measure technology value.
Ethical and Legal Standards: Ensuring data privacy and equitable access while fostering innovation.
Stakeholder Engagement: Including professionals, patients, policymakers, and industry in creating participatory healthcare.
Implementing precision health requires extensive data and timely analysis to customize healthcare strategies. However, rising demands, demographic changes, and limited resources may exacerbate healthcare challenges. The European Steering Group on Sustainable Healthcare highlights the need to prioritize prevention, early diagnosis, and citizen engagement for participatory healthcare, though progress in Europe remains limited.
ExACT identified four priorities for precision health adoption:
Patient-Centered Care: Aligning health systems with individual needs.
Prevention Focus: Emphasizing early intervention.
Systematic Evaluation: Using Health Technology Assessment to measure technology value.
Ethical and Legal Standards: Ensuring data privacy and equitable access while fostering innovation.
Stakeholder Engagement: Including professionals, patients, policymakers, and industry in creating participatory healthcare.