Global genome network to accelerate rare disease discovery

A new international collaboration is breaking down barriers to genomic research for rare diseases. PacBio and DNAstack have launched the HiFi Solves Global Consortium, the first federated dataset of HiFi whole-genome sequences, connecting more than 10,000 genomes across nearly 30 institutions in 15 countries.

The federated approach allows researchers to query harmonised datasets without centralising sensitive patient data, enabling global insights while preserving privacy and regulatory compliance. By linking high-accuracy HiFi sequencing data with associated metadata, scientists can study rare variants in a diverse, worldwide context - something that was previously difficult to achieve within isolated datasets.

“HiFi sequencing gives us the resolution to detect even the most challenging variants,” said Christian Henry, CEO of PacBio. “Connecting data across institutions securely means discoveries can happen faster and more reliably, without compromising patient privacy.”

Early results from the consortium’s EMEA members demonstrate the power of this approach: HiFi sequencing accurately identified clinically relevant variants in paralogous genes, reducing reliance on multiple technologies and streamlining workflows. For clinicians and researchers, the global federated model promises more confident variant interpretation and quicker answers for families affected by rare disease.

Marc Fiume, CEO of DNAstack, highlights the significance: “We’re showing that it’s possible to combine global collaboration with strong privacy protections, creating a platform for learning health systems that benefit entire populations.”

Launched in 2023, the HiFi Solves Global Consortium continues to expand, reflecting growing demand for secure, cross-border genomic research. With its combination of high-accuracy sequencing and federated data sharing, the initiative is setting a new standard for international collaboration in rare disease genomics.

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