Thanks to all who attended the Genomics in Health Implementation Forum meeting on March 9 and 10. Recordings of the two 2-hour sessions can be found on the event website.
Attendees learned about innovative approaches to consent, representation of pedigree information, how GA4GH standards can be implemented to support end-to-end workflows, among other topics. One particular community effort on quality control of whole genome sequencing results is looking for contributors. Please reach out if you are interested.
Below you'll find details on our upcoming webinars/workshops, covering topics introduced at last week's meeting. Please follow the links to register.
Pedigree data is currently represented in heterogeneous formats that frequently result in the use of lowest-common-denominator formats (e.g., PED) or custom JSON formats for data transfer.
The GA4GH Clinical and Phenotypic Data Capture Work stream is developing a set of recommendations for the data elements that family health history tools should collect, as well as a computable model that will scale genomic analysis to larger, more complex families.
Standardizing the way systems represent family structure will allow patients to share this information more easily between healthcare systems and help software tools use this information to improve genome analysis and diagnosis.
Member Spotlight
Australian Genomics has developed a REDcap Pedigree plug-in, which will become a reference implementation for the FHIR version of the GA4GH Pedigree Standard when finalized.
The GA4GH Phenopackets specification is a uniform, machine-readable schema that enables the exchange of both high-level and deep phenotypic information.
A phenopacket file contains a set of required and optional fields to share information about an individual, patient or sample phenotype, such as age of onset and disease severity.
Phenopackets will allow phenotypic data to flow between clinics, databases, labs, and patient registries in ways currently only feasible for more quantifiable data, like sequence data, and power phenotype-driven diagnostics and computational analysis.
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.
Next month, we will focus on variant curation, discovery, and exchange. If you have innovative ways of tackling these challenges or experience working with the GA4GH Variant Representation or Variant Annotation standards in your initiative, we'd love to hear about it!
