Leadership from national initiatives around the globe convened to enable knowledge exchange and collaboration among our initiatives as we pursue common goals in advancing human health. Participants had the opportunity to learn about progress and challenges in genomic and clinical data collection, use, and sharing, discuss technical, regulatory, clinical, and educational practices, challenges, and opportunities, and review progress from the Global Alliance for Genomics and Health (GA4GH) in facilitating and enabling genomic and clinical data-sharing internationally.
The meeting began with brief updates from a subset of initiatives followed by presentations on the current status of pilot data sharing projects between them. Each of these corresponded to an afternoon breakout session as described below. A full-group workshop on public engagement and ethics completed the agenda for Day 1, followed by a cocktail hour and networking dinner.
On Day 2, breakout organizers presented on the findings from day 1, including forward looking action plans for sharing between initiatives and implementing GA4GH standards. The meeting adjourned after a panel discussion focused on how we can share resources to effectively move genomics from research into clinical care.
Track A: Clinical Data
High quality clinical and phenotypic data are essential for the accurate interpretation of genomic data, both in the clinical and research settings. However, standartising and scaling clinical data capture and exchange pose many challenges. In this session, we compared approaches from different national initiatives, with the aim of sharing experience and learning, as well working towards identifying a common minimal dataset, starting with paediatric rare disease. This session intersected with the work of GA4GH Clinical and Phenotypic Data Capture work stream.
  • Deposit resources into the toolkit, starting with clinical datasets, redcap resources, FHIR resources, consents, long data, etc.

  • Finish harmonization exercise with GeL and extend to other initiatives.

Track B: Genomic Data Access & Sharing
Discussed current and future challenges in (genomic) data sharing, authentication / authorisation, remote processing of data and how to best make use of current standards from GA4GH, Elixir and others. The breakout session included brief presentations on use cases and lessons learnt to identify possible pilot projects between National Initiatives Meeting participants.
  • Generate a list of contacts from technical side, test contacts with matrix of initiatives and projects

  • User stories: identify 1-2 cohorts and detail what we mean by ‘share’ ie. What are the questions you want to ask and map to technical solutions and see what we can do.

  • Many cohorts are already federations, ask that question within the DPs. ie what are questions a CanDIG researcher wants to ask.

Track A: Data Curation
Sharing variant-level data and gene-disease validity data has many benefits for advancing genomic medicine, but comes with many challenges. In this session we discussed the benefits and requirements to sharing variant and case-level data with ClinVar, global efforts to create gene-level resources that define the validity of gene-disease associations, and identified opportunities to coordinate our efforts in clinical panel design using tools and platforms such as PanelApp, TGMI/G2P, and ClinGen resources. We also discussed standardization around the scope of genomic sequence interpretation and standardizing elements of clinical WGS reports.
  • Toolkit for guiding variant interpretation sharing and submission to ClinVar

  • Toolkit for maintaining gene level data, and what genes you want to test in a panel

  • Supporting use of PanelApp and instances of gene-level resources

  • Define standards for exchanging information across systems

  • Convene interested parties to develop best practices for variant interpretation and define scope

Track B: Regulatory & Ethics
This session aimed to provide a forum for exchange on the experience of real-world data sharing. Each topic focused on a particular step in the data-sharing trajectory. Followed by audience discussion, a series of short slide presentations outlined the current landscape and described the tools / approaches used to address and shape genomic and health-related data sharing in national initiatives:
  1. Access to legacy data/Research and the GDPR
  2. e-Consent, Dynamic Consent
  3. Enabling secondary use of clinical genomic data for research
  4. Data access governance for secondary uses
  • Identify National Initiatives willing to share clinical consent forms, or approaches that they’re willing to share, and identify clauses