Welcome to the monthly newsletter of the Genomics in Health Implementation Forum (GHIF), an initiative of the Global Alliance for Genomics and Health (GA4GH). GHIF aims to empower knowledge exchange and collaboration through the implementation of GA4GH standards among global genomics initiatives as they pursue the common goal of advancing human health. In these briefings, we will provide a regular mechanism for you to stay up to date with our activities as well as opportunities to get more involved. Each month we will feature a different topic of interest to our community, with calls to action and information about GHIF member initiatives. This month our focus is on Regulatory and Ethics.
The annual GHIF working meeting will take place on March 9 and 10 via zoom. Please register for the event to access meeting links and other information.
The GA4GH Data Use Ontology (DUO) allows users to semantically tag genomic datasets with usage restrictions
GA4GH Machine Readable Consent Guidance (MRCC) provides instructions for researchers to integrate standard data sharing language into consent forms in a way that can be translated to a computable language
Together, DUO and MRCC enable automatic discoverability based on a health, clinical, or biomedical researcher’s authorization level or intended use
For 2021, REWS plans to develop generic Consent Clauses for Large Scale Initiatives (biobanking and population studies), Clincial Genetic Testing (WGS) and Pediatrics.
Member Spotlight
The Estonian Genome Center has utilized a broad informed consent form to consent all participants (gene donors) in the Estonian Biobank, a population-based biobank. Learn more about the project and view its consent form here.
A systematic literature review by the GA4GH REWS Return of Results (RoR) team showed a high desire for return of results from genomic research from those who wish to receive them and general willingness of initiatives to provide such results, although there is an acknowledgement that the focus should be on returning results that are reliable and clinically relevant
The authors recommend shifting the research focus on to how best to obtain informed consent and provide researchers with the support to develop procedures for returning results
The GHIF toolbox serves a central clearinghouse for GHIF members to share documents and resources with one another as well as the broader community. This month, help us enhance the toolbox by submitting your regulatory and ethics resources, such as consent forms and policies.
Come to this hands-on virtual event and learn to map your consent forms to DUO codes
Registration to come
In the next issue...
Next month, we will feature the clinical and phenotypic data capture and exchange. If you have experience working with the GA4GH phenopackets standard or capturing ancestry, ethnicity, or other pedigree information in your initiative, we'd love to hear about it!
