Beyond 1 Million Genomes (B1MG) M4.1 - Technology and ELSI compliance check (document)

During the Beyond 1 Million Genomes project, a scoping paper defining the required functionalities which would enable secure cross-border data access was published. Based on this paper, a draft infrastructure to support this was refined for the rare disease use case. This PoC and associated user workflow, was presented to Beyond 1 Million Genomes (B1MG) WP2 and 1+ Million Genomes (1+MG) WG2 for feedback, which identified ELSI issues within the proposal. Based on this feedback, the PoC and use case was adjusted, including developments within the technologies proposed within the infrastructure, and these were incorporated into an updated PoC, which was subsequently developed within the Genomic Data Infrastructure (GDI) project as a Starter Kit. However, not all ELSI issues have been identified or, or even those identified addressed, so ongoing work is required to identify and address these issues. With the Starter Kit, which supports other use cases, a Data Protection by Design and Default process has been initiated, which we proposed to perform in a hybrid approach, both top down and bottom up, to ensure compliance with applicable laws and regulations.