Beyond 1 Million Genomes (B1MG) D7.3 Catalogue of met and unmet use case WGs requirements - Final

This deliverable provides an overview of the progress made by the Working Groups (WG8, WG9, WG10, and WG11) within the B1MG initiative in the fields of genomics and infectious disease research.

WG8 - Rare Disease

WG8 successfully completed a Rare Disease Proof of Concept, utilising various GA4GH Standards and existing services. While this achievement marks a significant milestone, critical requirements must be addressed before scaling the infrastructure effectively. These requirements encompass healthcare and research pathways, real-time feedback mechanisms, data standards, ethical considerations, and interoperability. The dedication to user-centric approaches and the recognition of these needs reflect a commitment to long-term sustainability. 

WG9 - Cancer

Significant milestones have been reached in integrating genomics into clinical practice for cancer treatment. An essential accomplishment is the agreement on a minimal cancer dataset, forming the foundation for standardised data collection and analysis. Ambitious goals for the future include establishing interfaces for data exchange and analysis, solving Ethical, Legal, and Social Implications (ELSI) bottlenecks, achieving interoperability, and expanding into diagnostic applications. Collaboration and innovation remain key drivers in this group.

WG10 - Common & Complex Diseases

WG10 made significant progress in assessing member states' genomics status, exploring policy, education, IT infrastructure, and ethical considerations. The effort put into harmonisation, establishing standards, and developing cross-border infrastructure highlights the complexity of this challenging field. Their vision encompasses delivering personalised medicine across borders, while addressing ethical, legal, and technical challenges, ensuring widespread participation and collaboration.

WG11 - Infectious Diseases

WG11 established a network of experts and conducted comprehensive assessments of ELSI, standards, and infrastructure needs. Notable achievements include mapping potential datasets related to COVID-19 and submitting SARS-CoV-2 data to the COVID-19 data portal. Future goals involve piloting data sharing for infectious diseases, securing funding for critical phenotypes, and addressing ethical and legal compliance.

Discussion

The progress made by these working groups is commendable, but ongoing unmet requirements emphasise the complexity of genomics and infectious disease research. It becomes of utmost importance that collaboration, innovation, and a commitment to addressing challenges will be crucial for unlocking the full potential of these use cases.

Conclusions

In conclusion, the B1MG initiative's Working Groups have demonstrated dedication, expertise, and collaboration in advancing genomics and infectious disease research. While significant milestones have been achieved, ongoing efforts are required to meet the complex challenges in these fields. Continued commitment to user-centric approaches, harmonisation, and innovative solutions will drive enduring contributions to healthcare and research for the benefit of society.