15 October 2017
The Global Alliance for Genomics and Health (GA4GH) has struck formal collaborations with 15 international genomic data initiatives as 2017 Driver Projects, including Genomics England, Australian Genomics and the U.S. All of Us Research Program. The announcement, made at the GA4GH 5th Plenary Meeting, comes as part of the launch of GA4GH Connect: A 5-year Strategic Plan. GA4GH Connect aims to drive uptake of standards and frameworks for genomic data sharing within the research and healthcare communities in order to enable responsible sharing of clinical-grade genomic data by 2022.
GA4GH is an international, nonprofit alliance formed to accelerate the potential of genomic medicine to advance human health. Bringing together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology, GA4GH Members are working together to create framework and standards to enable the responsible, voluntary, and secure sharing of genomic data.
The first robust genomics standard under GA4GH Connect, “htsget,” was also released today. htsget is a genomic data retrieval specification allowing users to download read data for subsections of the genome in which they are interested. Currently, users must download the whole set of files in which that data resides, a slow, resource-intense process.
GA4GH Driver Projects will help identify, develop, and pilot data sharing frameworks and standards in real world settings. By interacting with many of the world’s leading genomic data initiatives, GA4GH will ensure that its efforts are directly connected to the research and healthcare communities’ most immediate needs.
“Healthcare is harnessing the power of genomics to make better diagnoses and treatment decisions in rare disease and cancer across the world,” said Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) in Cambridge, UK and Chair of the GA4GH Steering Committee. “We have a responsibility to enable this future for everyone, and to harness the resulting data for further research on human health and fundamental biology.”
“To fully realise the promise of genomic medicine, we must operationalise a true learning health system,” said Peter Goodhand, President of the Ontario Institute of Cancer Research in Toronto, Canada and GA4GH Executive Director. “This means creating tools and resources that allow the research and healthcare communities to learn from each other and share data and resources between the two.”
“As the world’s biomedical research enterprise continues to generate massive amounts of genomic data, we must be certain that data-sharing standards are in place so all innovators around the globe can use data from anywhere seamlessly, and share it responsibly and effectively,” said Francis S. Collins, Director of the U.S. National Institutes of Health. “I am delighted that the NIH All of Us Research Program will be a GA4GH Driver Project, so NIH will be able to provide input and guidance as these standards are developed.”
In an editorial released today on BioArxiv, Birney and Goodhand outline their expectations for healthcare-driven genomics, and related technical challenges and opportunities for clinical research.
The GA4GH 5th Plenary Meeting is an official ancillary meeting to the annual meeting of the American Society of Human Genetics, where GA4GH is also an exhibitor.