Canada’s Digital Technology Supercluster and DNAstack today announced the Autism Sharing Initiative, a new project to build the first federated, global network for sharing genomics and clinical data to accelerate research with the hopes of developing precision healthcare approaches for autistic individuals.
Autism, or autism spectrum disorder, refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviours, speech and nonverbal communication — each autistic person on the autism spectrum has a distinct set of strengths and challenges. There is not one autism but many subtypes, influenced by a combination of genetic and environmental factors. Autism affects approximately one in 66 Canadians.
While a great deal of genomic and clinical data are being collected in autism research, these datasets are maintained independently by institutions to protect privacy and data security. To date, it has been difficult to study these data together, limiting researchers’ ability to better understand the genetic factors involved in autism. Using new technology, the Autism Sharing Initiative will enable international collaboration between institutions, allowing researchers to search and analyze multiple de-identified datasets at the same time, without moving the data from its original organization. Because the location of the data is maintained, the levels of privacy and security will be maintained, and data will be accessed according to patient consent.
“Through leading international collaborations such as the Autism Sharing Initiative, we are fuelling the growth of Canada’s digital ecosystem, driving Canadian innovation, and supporting research to help families living with autism in Canada and around the world,” said Sue Paish, CEO of Canada’s Digital Technology Supercluster. “This project is a great example of how Canada’s Digital Technology Supercluster is bringing together the global research community, and highlights Canada’s leadership in personalized approaches to care.”
This research is enabled by new technology based on the concept of “data federation,” a technique that allows search and data analysis to be performed across multiple datasets while allowing the individual datasets to remain in their protected local environments. Through building this new federated global data sharing network of genomics, multi-omic clinical, medical, patient and family-centered data, researchers and healthcare professionals will be able to leverage artificial intelligence (AI)-based methods to mine complex datasets, which could enable earlier diagnoses and the development of precision healthcare approaches for autistic people.
“Autism is complex and our research has demonstrated the value of connecting massive datasets to help us uncover critical genetic insights. While we have made great strides, there is still much we don’t know about the genetics of autism,” says Dr. Stephen Scherer, Director of The Centre for Applied Genomics (TCAG) at The Hospital for Sick Children (SickKids) and Lead Scientist of the Autism Speaks MSSNG program. “Each autistic person is unique and even siblings can have different forms of autism, underscoring the importance of studying individuals, families, and populations of people.”
None of this research would be possible without autistic people and their families participating in research, and the autism community will be able to engage with the project to help maximize the value to autistic people.
The Autism Sharing Initiative will develop new easy-to-use software that allows institutions to independently manage data but virtually integrate them over distributed networks. Powered by implementations of the latest open standards developed by the Global Alliance for Genomics & Health, the software securely shares all data, allowing researchers to bring their best ideas forward in the most efficient and careful manner. Enabling scalable federated analysis and machine learning could fuel new research discoveries that could have broad impact for collaborative genomics research beyond autism.
“Understanding autism requires a collaborative and globally representative ecosystem,” said Dr. Marc Fiume, CEO of DNAstack. “The siloed nature of individual research and clinical datasets is a fundamental roadblock to realizing the promise of data-driven personalized healthcare. Recent advances in generating international standards for data sharing enable the value of data to be unlocked while protecting privacy, which promise to transform biomedical research and translation into clinical care.”
The Autism Sharing Initiative builds on research through the work of a consortium that includes Autism Speaks, Autism Speaks Canada, DNAstack, Excelar Technologies, McGill University’s Centre of Genomics and Policy, Molecular You, Pacific Autism Family Centre Foundation, Hoffmann-La Roche Limited (Roche Canada), SickKids and the University of British Columbia. The project is an $11.2 million initiative, including $4.3 million provided by Canada’s Digital Technology Supercluster. In addition to the core consortium, partners supporting this initiative include Holland-Bloorview Kids Rehabilitation Hospital, Ontario Brain Institute, and the Autism SPectrum Interdisciplinary REsearch (ASPIRE) Program at BC Children’s Hospital Research Institute.