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- Workshop Implementation of Genomics in HealthcarePublication . Vicente, Astrid Moura; Cardoso, Maria LuisThe first B1MGPlus workshop, held in Bucharest, launched the activities of Work Package 3 (WP3) and Working Group 7 (WG7) of the 1+MG Initiative, focusing on the implementation of genomics in healthcare across Europe. The event gathered experts, policymakers, and stakeholders from multiple countries, providing a platform to discuss challenges, share national experiences, and explore strategies for integrating genomic medicine into healthcare systems. The workshop was structured to address key domains identified in the 1+MG maturity level model (MLM), which serves as a framework for countries to self-assess their readiness and progress in implementing genomic medicine. The agenda included sessions on governance, strategy, investment and funding, clinical implementation, workforce upskilling, and public engagement, ensuring a comprehensive overview of the multifaceted process of genomics adoption in healthcare. A keynote presentation by the Wellcome Sanger Institute highlighted the importance of policy and advocacy in genomics, emphasizing the need for capacity building, equitable data sharing, and public trust. The discussion underscored the global imbalance in genomic datasets and the necessity of demonstrating tangible benefits to citizens, especially when commercial actors are involved. National case studies provided practical insights into different implementation models. Slovenia’s approach, for example, integrated genomics within existing genetic services, leveraging established governance, reimbursement, and professional pathways. This facilitated a smoother transition and highlighted the value of adapting existing structures rather than creating entirely new ones. Other countries, including Denmark and Germany, shared diverse strategies regarding governance, funding, workforce development, and clinical integration. These examples illustrated the varying levels of maturity and unique challenges faced by European healthcare systems, reinforcing the importance of context-specific solutions and cross-country learning. Finland’s highlighted the country’s advanced integration of genomics into healthcare, namely Finland’s pioneering work in pharmacogenomics, the use of biobank resources for research and clinical applications, and the development of polygenic risk scores to support personalized medicine. These initiatives are supported by a well-established national biobank infrastructure, robust ethical and legal frameworks, and close collaboration between research and clinical practice, positioning Finland as a leader in translating genomic discoveries into healthcare benefits. Public engagement emerged as a critical theme, with discussions focusing on transparent communication, ethical considerations and mechanisms to ensure societal benefit from genomic initiatives. The need to build trust and demonstrate value to the public was repeatedly emphasized, particularly in relation to data use and commercial partnerships. The workshop also featured updates on the status of genomic medicine in several European countries, including Romania, Lithuania, Belgium and Portugal. These presentations highlighted ongoing pilot projects, national strategies, and the importance of aligning policy, infrastructure, and workforce capacity for successful implementation. In addition, the draft of the questionnaire developed to support the mapping exercise on the implementation of genomics in the clinical setting (Task 3.3) was presented. The questionnaire is structured on the Maturity Level Model, making use of its established domains and indicators while incorporating the necessary adaptations to meet the specific objectives of the exercise. In conclusion, Workshop 1 of B1MGPlus fostered a collaborative environment for sharing knowledge, benchmarking progress and identifying actionable recommendations. The insights and outcomes from this meeting will inform ongoing WG7 activities and contribute to the development of guidance materials for the European Commission, supporting the advancement of genomic medicine across Europe
- Advancing equity through Health Impact Assessments - Guide for the EuroHealthNet Partnership on conducting and implementing Health Impact Assessments with an equity focusPublication . Vilarnau, Sofia Romagosa; Godfrey, Alba; Stegeman, Ingrid; EuroHealthNetEste documento fornece informações sobre metodologias, recursos, boas práticas e recomendações para garantir a implementação e adoção bem-sucedida da Avaliação de Impactos na Saúde (AIS), do inglês Health Impact Assessement (HIA), com foco na equidade. O objetivo deste material é preencher uma lacuna nos recursos disponíveis, reunindo evidências e conhecimentos sobre como garantir a equidade como componente central da AIS. O Guia foi desenvolvido com e para a Parceria EuroHealthNet, através de um questionário online e entrevistas, complementados com análise documental.
- Report: B1MG Country Exchange VisitsPublication . Merchant, Arshiya; Lopes, Maria de Fátima; Costa, Alexandra; Konopko, Melissa; Cardoso, Maria Luís; Sitja, Xénia Pérez; Bourbon, Mafalda; Almeida, Teresa Caldas de; Scollen, SerenaNo âmbito do projeto B1MG (Beyond One Million Genomes), WP5, o INSA colaborou na organização de três Country Exchange Visits (CEV) (formato virtual) ao Reino Unido (23 e 24 de Março de 2021), Estónia (19 e 20 de Maio de 2021) e Finlândia (16 e 17 de Junho de 2021). Este documento, cuja elaboração e conteúdo teve no INSA o seu maior contribuinte, constitui o relatório destas 3 CEVs.
- Policy Brief - Genomics in Healthcare: Key issues for implementationPublication . Lopes, Maria Fátima; Merchant, Arshiya; Costa, Alexandra; Perez, Xènia Pérez; Cardoso, Maria Luis; Konopko, Melissa; Bourbon, Mafalda; Scollen, Serena; Vicente, Astrid MouraO projeto Beyond 1 Million Genomes (B1MG) organizou três Country Exchange Visits (CEV) a países europeus com estratégias genómicas avançadas, nomeadamente o Reino Unido, a Estónia e a Finlândia. Representantes dos países signatários da iniciativa Europeia de 1 Milhão de Genomas (1+MG) participaram nesses eventos, alguns dos quais apresentaram as respetivas iniciativas nacionais para a medicina genómica. Estas visitas promoveram uma discussão aberta sobre os pontos chave para a implementação sustentável da medicina genómica nos serviços de saúde nacionais. Com base nas boas práticas apresentadas, e em exemplos reais dos países anfitriões, produziu-se um Policy Brief, intitulado "Genomics in Healthcare: key issues for implementation", que compila recomendações em áreas essenciais à implementação sustentável da medicina genómica nos sistemas de saúde Europeus, nomeadamente: (i) o envolvimento dos cidadãos e dos doentes; (ii) as infraestruturas e regulamentação necessárias na prática clínica; (iii) a formação e capacitação de profissionais de saúde; (iv) a construção de um ecossistema sustentável baseado em sinergias entre sistemas de saúde, investigação e indústria.
- D5.1 B1MG maturity level model and country-specific alignment within the modelPublication . Costa, Alexandra; Cardoso, Maria Luís; Konopko, Melissa; Sitja, Xènia Pérez; Lopes, Maria de Fátima; Merchant, Arshiya; Santos, Osvaldo; Bourbon, Mafalda; Custers, Ilse; Scollen, Serena; Vicente, AstridNo âmbito do projeto B1MG, WP5, o INSA coordenou o desenvolvimento, validação e teste em sistemas reais, de um modelo de maturidade que se pretende como uma ferramenta de suporte à implementação da genómica na pratica clinica nos sistemas de saúde. Este documento, que constitui o deliverable 5.1 do projeto B1MG, descreve o contexto, metodologia e resultados desta tarefa.
- Youth, Mental Health, and Culture : Brainstorming ReportPublication . Cicerchia, Annalisa; Perez, Edith WolfEXECUTIVE SUMMARY: Since the beginning of this century, scientific investigations on the impact of cul ture and the arts on health and well-being have resulted in a huge body of knowl edge and a buzzing scene of activities. At the same time, the essential and sys temic role that culture and the arts play in our society has not yet achieved the recognition it deserves from policymakers and the health and social sector. Culture and Health, as it is represented in the WHO Health Evidence Synthesis Re port No. 67 “What is the evidence on the role of the arts in improving health and well-being?”, is a global movement. In practice, however, it is a fragmented carpet of numerous approaches, lacking concerted efforts and effective communication. While there is a plethora of data from small-scale projects there is a very limited amount of academic research providing robust data. In order to collect insights, experiences, and recommendations on this topic from civil society from the relevant sectors across Europe the European Commission Structured Dialogue platform Voices of Culture invited participants from 53 se lected organisations (from an Open Call) and 23 countries from the fields of cul ture, health, education, and social services to brainstorm over two days - 4th & 5th October 2022 - in Brussels. The focus was on one of the most pressing issues of our time: Youth Mental Health. How can arts and culture address the multiple expressions of troubled young minds when facing the crises of our time? The objective was to gather and discuss the evidence and come up with recommendations for stronger participation of the arts and culture sector in public health in Europe. In five thematic groups, the participants looked at the evidence and practice of the cultural and creative sectors on the mental health of young people from dif ferent angles. The key takeaways, the recommendations, and the conclusions are informed by their practical fieldwork which provides evidence of the potential for the prevention and the promotion of (mental) health, as well as for the manage ment and treatment of ill health. The findings are represented in the five chapters of the report. They lay out an extensive overview of successful projects that have been carried out by the group members or associated organisations for, with, and through young people and which proved to contribute to stabilising their mental health. Cultural economist and senior researcher Annalisa Cicerchia prepared a discus sion paper around which the brainstorming sessions were structured. Annalisa Cicerchia also provides the introduction and conclusion to the findings in the Report. The general tenor of the brainstorming session was that strategies and interven tions aiming at promoting the mental health and well-being of young people need to adopt an integrated, multidimensional, and cross-sectoral approach. As an im manent ingredient of human endeavor, that can be traced throughout the history of mankind, the creative arts and culture are biopsychosocial ingredients. The im pact is multifactorial and affects the physical, psychological, emotional, and social dimensions. They bring joy and relief and can be transformational. Its effects de pend on the nature of the intervention, the subjective experience of the individual, and the group situation. Therefore, the impacts and effects on (mental) health are not measurable according to a specific design. One size does not fit all. A mixed and cross-cutting methodological approach will be most appropriate to evaluate culture for health interventions.
- Public health foresight in light of COVID-19Publication . EuroHealthNet; Dutch National Institute for Public Health and the EnvironmentExecutive summary: recommendations for action: The COVID-19 pandemic caught the world unprepared and has changed the shape of public health – and of our lives – for the foreseeable future. A group of senior public health officials from national and regional public health agencies across Europe came together to discuss current developments, the interrelated complexities and implications for their work in the near and longterm future. This report reflects their insights into some of the most pressing societal challenges and trends for public health in the years ahead, adopting a broad definition of health which encompasses social and environmental factors. Challenges considered include the rise in social and health inequalities, the increasing pressure on health systems, and negative impacts on population mental health. They reflect both direct as well as indirect impacts of the crisis on health, such as for instance unemployment and its pathways to ill-health. Climate change and (further) environmental degradation were highlighted as key longterm challenges. The exercise also included setting out opportunities, such as the fact that public health has been put in the spotlight and is at the centre of political agendas and public mindsets. The group concluded that “building back better” from the pandemic could provide an opportunity to strengthen health promotion and disease prevention, to bring more sectors together around the topic of health, including mental health and to enable citizens to adopt healthier, more sustainable behaviours. The importance of community action and social cohesion during the pandemic also provides opportunities to boost local level initiatives and networks. Over the next months and years, actions need to be taken to tackle the challenges at the root level, cushion the impacts of crisis and mitigation measures and encourage positive developments. Public health actors and agencies continue to have a pivotal role to ensuring a resilient, inclusive and sustainable recovery from the pandemic. This foresight exercise led to a draft set of recommendations for how different actors can help bring this about. The recommendations were discussed and validated in a EuroHealthNet partnership workshop in November 2020 and reflect this exchange
- Estratégia Nacional para a Medicina Genómica - PT_MedGen: desafios e prioridadesPublication . Almeida, Fernando de; Vicente, Astrid Moura; Calado, Patrícia; Santos, Manuel; Carvalho, Ana Sofia; Águas, Cíntia; Pinto, Cátia Sousa; Silva, Mário Jorge Gaspar da; Melo, Ana Portugal; Oliveira, Mónica Duarte Correia de; Feijó, Joana; Vilarinho, Laura; Oliveira, CarlaO presente documento visa propor o conceito e as linhas de ação prioritárias da Estratégia Nacional para a Medicina Genómica (PT_MedGen). O documento baseia-se na auscultação de alguns dos principais stakeholders nacionais, representados na Comissão nomeada pelo Despacho n.o 5135/2021 coordenada pelo INSA, e ainda na consulta de outras entidades e peritos de relevância. A estratégia PT_MedGen tem a meta global de criar infraestruturas e processos que permitam a adoção de abordagens de medicina personalizada na prática clínica, a par com a contribuição para a iniciativa 1+MG. Esta estratégia promoverá ainda a investigação, a inovação, a competitividade e a internacionalização, permitindo a criação de conhecimento e valor significativos na área da saúde.
- Reduction of salt (sodium) in bread and its contribution to the decrease of blood pressure in Portugal: Health Impact Assessment pilot study: final reportPublication . Caldas de Almeida, Teresa; Costa, LucianaThe methodology of Health Impact Assessment (HIA) is an essential tool in assessing the potential effects of interventions on the health of a population by its contribution to decision making for health and equity protection. In Portugal, there is a growing interest in understanding the extent to which health interventions and policies in other sectors have an impact on health and equity. The Portuguese Basic Law on Health, no. 95/2019 from September 4th advocates “that public or private programs, plans or projects that may affect public health shall be subject to impact assessment”. In that sense, there is, between the Health Authorities, a consensus regarding the need to carry out at national level studies to assess the impact on health, from a "whole of government" perspective. In addition, legal obligations for environmental assessments include the need to assess impacts on human health and on the population, as defined in the European Directives on Environmental Impact Assessment (EIA Directive 2014/52/EU). In this way, Public Health authorities and professionals need to grow capacity for assess impacts of policies, plans, programs and projects of the health sector but also to engage in environmental assessments. The initiatives that promote technical training and develop technical skills, tools and methodologies for impact assessment are thus of particular importance, namely to the National Institute of Health Dr Ricardo Jorge, IP (INSA) regarding its mission. As a result, within the scope of the Biennial Collaborative Agreement (BCA) between the World Health Organization (WHO) and the Ministry of Health, INSA is implementing a "Capacity Building HIA Training Program” in collaboration with technical experts from WHO. In this context, a Workshop on HIA was held in November 2017 in Lisbon with the main objective of training professionals, from health and other sectors, to develop health impact studies and discuss strategies for implementing HIA as a tool to support a "Health in all policies" approach. This strategy is considered essential for governance in health and for equity and well-being, not only for other sectors to recognize their responsibility in Health, but also for Health to recognize the impact of its interventions in other sectors. Following this initiative, three Pilot studies on HIA were developed based on a "Learn by doing" (LBD) approach, supported by tools described in the HIA Guidance of the Institute of Public Health in Ireland. This report describes the “REDUCTION OF SALT (SODIUM) IN BREAD AND ITS CONTRIBUTION TO THE DECREASE OF BLOOD PRESSURE IN PORTUGAL” study and the main conclusions obtained from this LBD experience.
- Saúde mental em tempos de pandemia - SM-COVID-19: policy briefPublication . Almeida, Teresa Caldas de; Heitor, Maria João; Santos, Osvaldo; Costa, Alexandra; Virgolino, Ana; Rasga, Célia; Martiniano, Hugo; Vicente, AstridA pandemia COVID-19 provocou alterações profundas nos estilos de vida, com potencial impacto na Saúde Mental (SM) e no Bem-Estar (BE) das populações, podendo conduzir a ansiedade, depressão, perturbação de stress pós-traumático e burnout. Neste contexto de pandemia, muitas das alterações ocorridas têm sido apontadas como responsáveis por impactarem negativamente na saúde mental e no bem-estar psicológico, em particular das pessoas infetadas e dos profissionais de saúde que delas cuidam. Isto decorre de diversos fatores, entre eles, medo e incerteza percecionados pelos indivíduos, medidas de saúde pública adotadas, como o distanciamento físico na sua manifestação mais extrema, como seja o confinamento, consequências socioeconómicas (e.g., perda de rendimento, desemprego), e, também, os potenciais efeitos diretos do vírus no sistema nervoso central. Importa assim tomar medidas promotoras de BE e de reforço da SM, e de mitigação do sofrimento psicológico na população geral, e em particular nos profissionais na linha da frente, nomeadamente nos profissionais dos serviços de saúde, nos cidadãos em isolamento ou quarentena, nas pessoas infetadas com SARS-CoV-2 e nos doentes com COVID-19. A aproximação do período de gripe sazonal e o atual aumento de casos de doentes com COVID-19 vão, provavelmente, resultar em maior vulnerabilidade de um número também potencialmente maior de pessoas. Apesar de a pandemia ser, num primeiro nível, uma crise de saúde física e uma crise social, no caso de não virem a ser implementadas medidas de SM e BE em tempo útil, poderá vir a tornar-se uma grave crise de SM., com todas as implicações que tal tem em termos de custos humanos, familiares, sociais e de despesa pública em saúde, bem como em termos de redução da produtividade a nível nacional. Coordenado pelo Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis do Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P., em colaboração com o Instituto de Saúde Ambiental da Faculdade de Medicina da Universidade de Lisboa (ISAMB/FMUL) e com a Sociedade Portuguesa de Psiquiatria e Saúde Mental (SPPM), o estudo SM-COVID19 visou caraterizar a SM e o BE da população geral e dos profissionais de saúde no contexto da pandemia, tendo em conta dimensões como ansiedade, depressão, stress pós-traumático, burnout e resiliência, entre outras. Os resultados do estudo SM-COVID19, disponíveis em https://sm-covid19.pt/, foram recolhidos através de um questionário estruturado online (auto administrado), que avaliou várias dimensões relevantes de SM no contexto de pandemia, em cidadãos maiores de 18 anos residentes em Portugal, entre os dias 22/05/2020 e 14/08/2020, tendo sido obtidas respostas de 6079 participantes, dos quais 2097 são profissionais de saúde. A maioria dos participantes tem entre 30 e 59 anos de idade, é do sexo feminino e reside na Área Metropolitana de Lisboa (38,2%) e no Norte (26,6%).