DNAstack
March 31 2025, Toronto — DNAstack today announced Questions, a revolutionary way to make discoveries across globally distributed datasets. The new feature breaks through long-standing barriers to international collaboration to enable discoveries in genomics and health research at unprecedented speed, sovereignty, and scale. Questions is powering insights across HiFi Solves — a global effort that is creating a real-time, distributed database of genomic variation detected with long read sequencing.
Patients are waiting
Millions of people around the world are affected by genomic disorders. In order to more accurately diagnose and treat them, researchers need to analyze enormous volumes of data. Since no organization has enough data on its own, data sharing is critical. However, the traditional way that genomic data is shared, by making and sending copies of large and sensitive datasets, is inefficient, insecure, and slow. As a result, patients wait years — decades even — for research to translate into life saving treatments. There is an urgent need to accelerate scientific discovery.
Share insights, not data
Questions introduces an innovative alternative to data sharing that makes it possible for collaborators to derive insights without copying or transferring sensitive data. Using Questions, a researcher can ask “Do you have patients with structural variants overlapping SCN1A?” and “What are their phenotypes?” Data stewards can easily provide meaningful answers to these questions without disclosing sensitive information, striking the perfect balance between data utility and privacy. Questions that are implemented by multiple collaborators can be federated, enabling researchers to get answers across globally representative datasets without ever centralizing sensitive information.
A flywheel for discoveries
“This marks a major step forward in responsible data sharing,” said Ma’n Zawati, Associate Professor at McGill University’s Faculty of Medicine. “Sharing information is not only a scientific imperative, but an ethical one. By allowing the global genomics community to share insights without exposing sensitive data, Questions epitomizes the need to maximize on the use of the data while protecting privacy, hence accelerating the flywheel of translational discoveries.”
A global search engine for genomic variation
PacBio’s latest long read sequencers, Revio and Vega, detect genomic variation with remarkable resolution, identifying up to twice the number of complex variations as short read sequencers. These variations can have significant impact on human health, but because they are new and absent from population databases like Clinvar and gnomAD, it can be difficult to confirm their clinical significance. In order to address this gap, a consortium including leading genomic research laboratories around the world have formed HiFi Solves to create a real-time, federated database of genomic variation detected by HiFi sequencing. HiFi Solves is powered by DNAstack’s Omics AI platform and leverages Questions to make it easy for members to get answers across the network.
Unlocking diagnoses through global collaboration
“With Revio and Vega, we’ve made long read sequencing accessible to researchers at exceptional scale and cost,” said Christian Henry, President and CEO of PacBio. “By enabling our community to search across a global, federated network of genomic variation identified by HiFi sequencing, Questions has the potential to unlock answers for patients and families who may otherwise not have a pathway towards a diagnosis.”
Members of HiFi Solves can now leverage a growing set of Questions to enhance variant interpretation, clinical decision-making, and rare disease research. Each one serves a distinct and important purpose: Allele Frequency retrieves all alleles and their frequencies at specific genomic positions or within particular genes; Structural Variants identifies structural variants overlapping specific genomic positions or genes; and Matchmaker, which will be available later this year, discovers subjects with similar genetic and phenotypic profiles across the federated network.
Limitless potential
Any insight that can be expressed as a query against a dataset can be implemented as a Question, creating limitless potential to exchange aggregative insights among collaborators. For example, Questions can be designed to enable patient matchmaking, clinical trial recruitment, and cohort building. Using the Questions API, AI agents can be augmented with the ability to look up information needed to follow task-specific protocols, such as variant classification.
The future of precision health depends on our ability to harness the collective power of the world’s genomics and health information without compromising its privacy, security, and trust. With Questions, DNAstack has just introduced a faster way to deliver answers to patients and families who need them most.
About DNAstack
DNAstack is a Canadian company whose mission is to improve lives by unlocking the collective power of the world’s genomics and health data. Omics AI is a software suite by DNAstack that enables privacy-preserving federated insights across distributed data. DNAstack is a global leader in the development of open, interoperable standards as part of the Global Alliance for Genomics & Health (GA4GH).
About HiFi Solves
HiFi Solves is a global network of institutions leveraging long-read HiFi sequencing to accelerate the discovery of genomic variation and its impact on human health. By enabling real-time, federated insights through Questions, HiFi Solves fosters a new era of responsible, privacy-preserving collaboration. PacBio customers are invited to join HiFi Solves and contribute to a global effort to drive faster, more impactful discoveries. Learn more at https://hifisolves.org/join.