GA4GH 2021 Roadmap Aims to Improve Interoperability, Technical Standards

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Centogene’s CentoMD® rare disease variant database will be integrated into Qiagen’s bioinformatics suite in a rare disease bioinformatics collaboration by the companies. [Source: alengo/Getty]

The Global Alliance for Genomics and Health (GA4GH) announced during opening remarks of the virtual GA4GH 8th Plenary Meeting this week the launch of launched the Federated Analysis Systems Project (FASP), a collaborative effort between several work streams and driver projects with the goal of integrating multiple GA4GH standards in order to implement them at multiple institutions.

FASP was created to address two community imperatives to improv internal and external interoperability and alignment; and improve implementation support for technical standards, which were identified by GA4GH as core for its 2021 strategic roadmap. A third imperative calls for the alliance to engage more closely with the healthcare community.

According to GA4GH, institutional, regional, national, and international regulations around sharing of genomic and related health data must be addressed in order to give researchers the ability to perform federated discovery, access, and analysis of controlled access genomic data.

Three FASP demonstrations projects presented at the plenary meeting detailed the ways researchers can leverage the implementations to discover controlled access data hosted in one computational environment and analyze them in another, all following best practices in privacy and security.

The Horizontal Connection Demo​ emphasizes progress of GA4GH in the real world. These demonstrations show reproducibility of analyses run in different environments and portability across analytics workspaces. A GWAS analysis of 1000 Genomes data is replicated across implementations of GA4GH APIs hosted by several organizations—including DNAstack, Terra (Broad Institute/Verily), ELIXIR, and Seven Bridges—implementing GA4GH APIs.

The Vertical Connection Demo​ showed the value of GA4GH to enable discovery, access, and analysis of controlled data. It used real-world implementations of the open standards to show how users can search for genomic data of interest and pass the results to inputs of a bioinformatics workflow in a cloud environment.

The Cross Platform Connection Demo explores how a researcher might combine the GA4GH components provided by many different institutions to aggregate data for analysis using implementations of multiple GA4GH standards and data from multiple GA4GH Driver Projects and organizations. A component of this demo outlines a global social and technical framework to engage additional data and tool providers in 2021.

“The Connection Demos are an enormous success for the members of the GA4GH Work Streams, who have collectively dedicated thousands of hours over the last three years toward standards development,” said Ewan Birney, deputy director general of the European Molecular Biology Laboratory (EMBL), director of EMBL’s European Bioinformatics Institute (EMBL-EBI), and Chair of GA4GH in a press release. “The demos show how this community’s work will enable interoperability across the genomics endeavor.”

To address the third imperative of its roadmap, GA4GH will continue to advance its newly created Genomics in Health Implementation Forum (GHIF), a collective of large scale initiatives focused on implementing genomics into clinical care. Institutions that are a part of the forum have committed to sharing resources, knowledge, and data using GA4GH standards. In 2021, GA4GH will expand on this work by launching a Clinical Advisory Group, which will bring together key stakeholders from a broader range of healthcare sectors to ensure its work meets the needs of this diverse community.

“The Genomics in Health Implementation Forum brings together large scale genomics initiatives ready and willing to share resources, knowledge, and (where possible) data, as well as a commitment to adopt GA4GH standards” said Kathryn North, director of Murdoch Children’s Research Institute, vice-chair of GA4GH, and co-lead of the GHIF. “The establishment of the new Clinical Advisory Group will help us expand these efforts by bringing in a broader scope of healthcare stakeholders not yet represented within the GHIF.”

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