PacBio joins iHope initiative as first long-read genomic sequencing partner

PacBio, a leading provider of high-quality, long-read sequencing technologies, has announced a collaboration with iHope, a global rare disease genomics program of Genetic Alliance, to integrate PacBio’s HiFi long-read whole-genome sequencing into iHope’s international network.

iHope operates the world’s largest equitable rare-disease genomic testing network, supporting more than 1,000 patients annually through 25 clinical sites across 14 countries. The program is designed to enable collaborative, multi-technology support for rare disease patients, bringing together diverse approaches and clinical expertise to address the biological complexity of rare genetic disorders. The addition of PacBio’s HiFi long-read whole-genome sequencing aims to expand the range of genomic insights available across the network, providing data that supports iHope’s mission to ultimately drive more diagnostic clarity.

“We've been impressed with the progress iHope has made in getting answers for rare disease patients through the use of genomics and we believe HiFi Long-Read WGS can move the needle even more by finding variants that may have been otherwise missed,” said Christian Henry, President and Chief Executive Officer, PacBio. “HiFi long-read sequencing offers a complete view of the genome, and through this collaboration we aim to help expand iHope’s access to more comprehensive and advanced genomic research technologies that may help support its delivery of precision care. As February is Rare Disease Month, we’re reminded that every patient matters and we’re proud to support iHope’s efforts to help bring clarity and hope.”

By integrating PacBio long-read sequencing alongside diagnostic approaches, iHope will strengthen its ability to interrogate challenging regions of the genome and explore additional classes of genetic variation. PacBio and iHope aim to broaden opportunities for patients with unresolved findings, while reinforcing a shared learning environment in which advances at one laboratory or clinical site can inform and elevate care across the entire network. The PacBio - iHope collaboration is designed to support future research into precision therapeutic approaches, including antisense oligonucleotide–based strategies.

“We are delighted to welcome PacBio to the iHope network. This collaboration will further advance our mission to deliver diagnoses to families who have historically lacked access to advanced genomic tools,” said Ryan J. Taft, Chief Scientific Officer, Genetic Alliance. “Our experience shows that access to advanced genomic technologies, like PacBio’s long-read genomes, can profoundly and positively impact patient lives across diverse populations and geographies.”

Integration of PacBio HiFi sequencing into the iHope network is expected to begin in early 2026.

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