Making strides to bridge genomic data and medicine, the Global Alliance for Genomics and Health (GA4GH) names 10 new Driver Projects

20 Sep 2023

The new GA4GH Driver Projects are the Biomedical Research Hub, the Human Pangenome Project, imCORE®, the International Precision Child Health Partnership, NHLBI BioData Catalyst®, the NIH Cloud Platform Interoperability effort, the Repository of the International Fetal Genomics Consortium, and expected in the coming weeks, the European Genomic Data Infrastructure, Qatar Genome Program, and the European Open Science Cloud for Cancer.

SAN FRANCISCO, CALIFORNIA, USA — The Global Alliance for Genomics and Health (GA4GH) named 10 world-leading genomic data initiatives with clinical connections as its newest Driver Projects. The collaborations will allow genomic data standards to make new inroads into medicine and biomedical research, important areas like foetal and child health, and diverse regions around the globe.

“Together, all GA4GH Driver Projects provide access to nearly 4 million genomes and more than 15 petabytes of real data. That kind of data power will drive an enormous transformation in human health. It’s fantastic to see the wide range of initiatives that have joined GA4GH as new Driver Projects and are committing to ramping up responsible genomic data use — from the Qatari health system, to a pregnancy sequencing repository, to federated data platforms for the US National Institutes of Health and for the European region.”

— Ewan Birney, Chair of GA4GH, Deputy Director General of the European Molecular Biology Laboratory

Birney announced the new Driver Projects at the GA4GH 11th Plenary meeting in San Francisco.

GA4GH Driver Projects are real-world initiatives that help build and implement GA4GH standards, tools, and frameworks. They give voice to the broader genomics community and ensure GA4GH products serve real needs.

As of today, seven projects have joined GA4GH as new Driver Projects: the Biomedical Research Hub (BRH), the Human Pangenome Project (HPP), Immunotherapy Centers of Research Excellence (imCORE®), the International Precision Child Health Partnership (IPCHiP), NHLBI BioData Catalyst® (BDC), the NIH Cloud Platform Interoperability (NCPI) effort, and the Repository of the International Fetal Genomics Consortium (RIFGC).

Three more are expected to join in the coming weeks in the areas of cancer research and national infrastructure: the European Genomic Data Infrastructure (GDI), Qatar Genome Program of Qatar Foundation, and European Open Science Cloud for Cancer (EOSC4Cancer).

Engaging with the clinic

All the new Driver Projects increase the GA4GH connection with the clinical community — a key priority in the GA4GH Strategic Road Map released earlier this year.

“For genomic data standards to make a difference to patients, we need to build bridges with clinical partners. The 10 new GA4GH Driver Projects will foster such engagement between research, medicine, and standards development,” said Heidi Rehm, a Vice-Chair of GA4GH, Chief Genomics Officer at Massachusetts General Hospital, and Co-Director of the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard.

Two Driver Projects reflect an expanding collaboration between GA4GH and the National Institutes of Health (NIH) in the US. NHLBI BioData Catalyst® (BDC) offers a cloud-based ecosystem with data and analytic capabilities to advance research on heart, lung, blood, and sleep diseases, disorders, and conditions. The NIH Cloud Platform Interoperability (NCPI) effort already relies on GA4GH standards in its work to establish a federated data ecosystem across cloud platforms at the NIH. 

The Biomedical Research Hub (BRH) makes patient data, including international patient data, available for research via federation — the process of running computational analyses on data remotely, rather than a researcher downloading or accessing raw data.

The academic-industry partnership Immunotherapy Centers of Research Excellence (imCORE®) brings together leading scientists and oncologists in multi-centre, data-focused collaborations for basic, clinical, and translational research. Funded by Roche, imCORE® is building a global data analysis platform to advance cancer immunotherapy research and development to improve patient outcomes. 

Two Driver Projects expected to join in the coming weeks aim to connect European genomic data platforms with healthcare and biomedical research.

The European Genomic Data Infrastructure (GDI) will use federation to make genomic and health data across Europe accessible to approved clinicians, scientists, and healthcare policymakers.*

The European Open Science Cloud for Cancer (EOSC4Cancer) plans to make well-curated data available to speed up cancer research at every stage of the patient journey, from prevention to diagnosis to treatment.

First steps into foetal sequencing and paediatrics

The new Driver Projects also expand the reach of GA4GH to vital areas within medicine: foetal sequencing and paediatrics. 

“GA4GH is delighted to launch our very first collaboration involving foetal sequencing, and separately, our first GA4GH Driver Project focused on paediatrics,” said Kathryn North, Director of Murdoch Children’s Research Institute and Australian Genomics, and a Vice-Chair of GA4GH.

“No one hospital holds all the data it needs to treat children with rare conditions and give critical information to expectant parents. International collaborations and responsible data reuse are absolutely essential to better health outcomes for kids,” North said.

North also co-leads the International Precision Child Health Partnership (IPCHiP), which brings together four leading children’s health institutions on three continents to develop an evidence base for rare paediatric disease. Showing the power of international collaborations, IPCHiP has already highlighted how feasible it is to implement rapid genome sequencing when taking care of infants with new-onset epilepsy.

Meanwhile, the Repository of the International Fetal Genomics Consortium (RIFGC) will work with GA4GH on standardising data from pregnancy sequencing projects, an area of clinical genomics gaining significant attention worldwide. The data will improve what we know about stillbirths, birth anomalies, and maternal-foetal health. 

Strengthening ties across the globe

The new additions bring the total cohort of GA4GH Driver Projects to 28, with representation from 113 countries.

“To fulfil its mission as a truly global alliance that benefits the health of everyone, GA4GH will strengthen ties in the Middle East and partner with transcontinental genomic data resources through its new Driver Projects,” said Peter Goodhand, CEO of GA4GH.

Expanding connections between GA4GH and the Middle East, the Qatar Genome Program of Qatar Foundation will develop a national genomic data resource to improve health in both Qatar and the wider region.

The Human Pangenome Project (HPP) aims to provide access to genomes that represent the full global diversity of the human population. HPP connects partners in both Northern and Southern Africa; the UK; East Asia; the Middle East; Europe; and South, Central, and North America. 

Other new Driver Projects build alliances across continents, including imCORE®, IPCHiP, BRH, and RIFGC. 

Shaping the future of genomic data use

While Driver Projects represent organisations who have committed resources to GA4GH activities, everyone in the genomics and health community is invited to develop and use GA4GH products by joining a Work Stream, joining as an Organisational Member, or getting involved in another fully open GA4GH group.

The new Driver Projects were unanimously approved by the GA4GH Executive Committee after evaluation by an External Review Board, chaired by Melanie Courtot (Ontario Institute for Cancer Research) and consisting of Ashley Hobb (DNAstack), Jacob Shujui Hsu (National Taiwan University), Jorge Melendez-Zajgla (Instituto Nacional de Medicina Genómica), Alessandro Riccombeni (Microsoft UK), Zornitza Stark (Victorian Clinical Genetics Service), and Daryl Waggott (Genome Canada).

Projects were evaluated on their ability to expand GA4GH’s global geographic footprint and application to global health, as well as to contribute to GA4GH activities. All projects have a mission and goals that depend on real-world genomic interoperability.

“The standards that GA4GH builds will influence genomics and health for decades to come. We were really pleased to see such important and promising initiatives step forward as GA4GH Driver Projects to work with us to shape that future,” said Courtot.

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*GDI is funded by the European Commission under the Digital Europe Programme under grant agreement number 101081813 and through co-funding from participating Member States.

Disclaimer: The content of this release is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.