International leaders in genomics call for action to scale genomic data sharing

29 Oct 2024

International leaders in genomics, including members of the Global Alliance for Genomics and Health (GA4GH) community, call for the scaling of research and clinical genomic data sharing.

International leaders in genomics, including members of the Global Alliance for Genomics and Health (GA4GH) community, published “A call to action to scale up research and clinical genomic data sharing” in Nature Reviews Genetics on 7 October 2024. 

The publication — led by representatives of GA4GH, Australian Genomics, Genomics England, the National Health Service (NHS) Genomic Medicine Service, All of Us Research Program, UK Biobank, and Our Future Health — emphasises the need to scale global genomic data sharing to enhance research and clinical outcomes in precision medicine. 

The authors write, “We can and must do more to enable genomic data sharing…All of us, as funders, policymakers, health system leaders and members of the genomic data community and global genomics ecosystem, have a responsibility to act.”

Successful examples of data sharing, which have already had profound impact on the ability to accurately interpret genomic data in the research and clinical settings, include the Genome Aggregation Database (gnomAD), ClinVar, the Matchmaker Exchange, and the Gene Curation Coalition.

Even with these examples, there are still significant barriers to health data sharing that need to be overcome, including those that are technical and legal, in addition to those related to public trust and policy. 

“Millions of people choose to donate their health-related data to help others,” said David Glazer, Workbench Chief Technology Officer at Verily. “We in the research community can honour their choice by supporting wide data sharing to fuel as many discoveries as possible and wise data sharing to ensure data is used as intended. Modern cloud-based environments make both possible, by providing secure and scalable environments for turning data into insights.”

The authors describe different data storage and analysis models and their impact on responsible data sharing. Many datasets are siloed at institutions around the world, others are stored in the cloud but require download to local infrastructure for analysis, while emerging data visiting approaches allow researchers to do their analysis in secure cloud-based environments. 

These technical differences, concerns over data privacy, and international regulations limit data sharing, especially across borders. Federated approaches that bridge across multiple systems and interfaces can support researchers in appropriately accessing all available data for certain types of analysis. 

GA4GH is working to develop a harmonised suite of tools and standards that facilitate responsible data sharing and support the entire lifecycle of data — from patient consent to data access, use, and exchange. 

Zornitza Stark, Clinical Lead of Australian Genomics said, “With genomic data now increasingly generated as part of mainstream healthcare, we need to focus on extending the benefits of data sharing to patients undergoing clinical testing. This is absolutely key to improving the speed and accuracy of diagnosis but requires careful attention to the development of appropriate clinical consent and data management infrastructure.”

The authors conclude their article by proposing twelve actions (summarised in the graphic below) that all those involved in the genomics ecosystem can take to address the challenges associated with genomic data sharing. Development of genomic data sharing standards and infrastructure should foster inclusive participation by diverse communities to ensure that the benefits of genomic medicine are realised by all.

“Progress is dependent on investment in digital infrastructure, creation of incentives, and action from all of those engaged in providing care and doing research,” explained Richard Scott, Chief Executive Officer of Genomics England. “It also means we need to listen to patients and research participants and engage them as we co-design our solutions and studies. Historically, it has often been easier to focus on work that can be done at one institution, alone. This doesn’t cut it in genomics — to achieve the benefits that patients and participants are looking for, we need to work at a much greater scale.”