This role will support the development, implementation and adoption of open-source technical standards for genomic data sharing. Based at EMBL-EBI, this role is part of an expansion of our technical team, led by our Chief Standards Officer (CSO), to increase support for our large community of contributors.
GA4GH held its second Fireside Chat discussion on February 23, 2022. GA4GH Chief Standards Officer, Susan Fairley, spoke with a special guest, Chief Executive Officer of Genomics England, Chris Wigley. The session was recorded and is now available.
HL7 has taken on genomics by including an add-on to its Fast Healthcare Interoperability Resources, or FHIR, standard since 2019, but it has not yet been widely or uniformly adopted. FHIR is not yet widely used among genomic laboratories. There, the preferred standards tend to come from the Global Alliance for Genomics and Health (GA4GH). However, Peter Goodhand, Toronto-based CEO of GA4GH, estimated that there are more than 200 genomic data sharing initiatives worldwide, though most are research-focused. Some working more on the practice side include the Global Genomic Medicine Collaborative, the Medical Genome Initiative, and the Mobilizing Computable Biomedical Knowledge project.
On April 5, 2022, initiatives from around the globe will convene for a virtual meeting of the Genomics in Health Implementation Forum (GHIF). This focused workshop aims to share the status of international efforts establishing genomic newborn screening programmes and identify areas for engagement with GA4GH Work Streams.
