Publicação
Workshop Implementation of Genomics in Healthcare
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Vicente, Astrid Moura | |
| dc.contributor.author | Cardoso, Maria Luis | |
| dc.date.accessioned | 2026-03-06T15:27:26Z | |
| dc.date.available | 2026-03-06T15:27:26Z | |
| dc.date.issued | 2025-03-10 | |
| dc.description.abstract | The 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 | eng |
| dc.description.sponsorship | B1MGplus project receives funding from the European Union’s Digital Europe Programme under grant agreement number 101194865. | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11173 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.relation | 101194865 | |
| dc.rights.uri | N/A | |
| dc.subject | Enhanced Working Group Collaboration | |
| dc.subject | Public Health Perspective | |
| dc.subject | Adoption of the Genomics in Healthcare Maturity Level Model | |
| dc.subject | Evidence and Best Practices | |
| dc.subject | Critical Factors for Genomic Integration | |
| dc.subject | B1MGPlus | |
| dc.title | Workshop Implementation of Genomics in Healthcare | eng |
| dc.type | report | |
| dspace.entity.type | Publication | |
| oaire.citation.title | Workshop B1MGplus: Implementarion of Gebomics in Healthcare, march 10 2025, Bucharest, Romania | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |