On March 23, 2020, initiatives from around the globe virtually convened to launch the first meeting of the formalized Genomics in Health Implementation Forum (GHIF). Attendees learned about the activity of pilot efforts launched to date and discussed future opportunities to advance global data sharing and human health.
Kathryn North (AGHA) and Mark Caulfield (GEL) kicked off the meeting by introducing the GHIF and the goals of such a forum. Past GHIF meetings, previously known as "National Initiatives," focused on sharing resources and identifying common challenges and opportunities for collaboration. Those efforts will continue as the group shifts towards actively implementing standards driving pilot projects. Kathryn highlighted the types of GHIF members, planned future meetings, and the "GHIF Toolkit", where resources can be deposited and shared.
Peter Goodhand (GA4GH) gave a brief overview of GA4GH and the technical standards that have been published to date, including Beacon, Service Info & Service Registry, Phenopackets, Variant Representation, Data Use Ontology, Passports & AAI, Workflow Execution Service, Tool Registry Service, Data Repository Service, htsget, refget and crypt4gh. More information on these standards can be found in the GA4GH toolkit.
Lindsay Smith (GA4GH) summarized data collected from the GHIF Attendee Survey, which aimed to help everyone better understand the community represented in the GHIF: What are the common challenges initiatives are facing? How much data are we collectively generating? Thirty-one initiatives spanning twenty-one countries registered for the GHIF. Of those that completed that survey, the majority of initiatives are focused on infrastructure development and rare disease/cancer projects. Many initiatives are collecting whole genome and exome sequencing data, in addition to phenotypic, lifestyle and gene expression data. Common challenges included metadata harmonization, data access and consent.
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Ellen McDonagh (GEL), Zornitza Stark (AGHA), and Oliver Hofmann (AGHA) discussed global collaborative opportunities and localized GEL and AGHA implementations of PanelApp, a publicly-available, crowdsourced knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried.
Zornitza Stark (AGHA) provided an update on collaborative efforts to harmonize clinical data capture and exchange, specifically in the rare disease space. Highlights include a list of essential elements developed by GEL and AGHA that are necessary for genomic data analysis, and REDcap plug-in for pedigree data capture.
Richard Milne (Wellcome Genome Campus) and Anna Middleton (Wellcome Sanger Institute) presented results from Your DNA, Your Say, a study to gather public views on donating one's own personal DNA and medical data for use by others. Approximately 37,000 samples have been collected across 22 countries. The results of this study will inform policy recommendations for GA4GH.
Heidi Rehm (ClinGen/MME) and Augusto Rendon (GEL) discussed resources to support variant interpretation, curation, and sharing. Pilot project ideas for a federated platform for both variant and case level data exchange were introduced and interested groups are encouraged to reach out.
Kristina Kekesi-Lafrance (GA4GH) introduced the consent component of the GHIF toolkit and efforts to collect existing genomic research consent clauses, which will be categorized and shared within a consent catalogue. Christine Patch (GEL) shared the evolution of consent as the 100,000 Genomes Project moved into NHS Medicine.