Long Reads, Shorter Journeys

The ability to diagnose rare diseases is at a turning point as greater genomic awareness, technological advances in long-read HiFi sequencing, and improved economics are converging to shorten the diagnostic odyssey for patients and families. PacBio’s long-read whole-genome sequencing overcomes the limitations of exomes and short read technologies by capturing structural variants, epigenetic signatures, and regulatory information, which raises diagnostic yields by 10 to 15 percentage points and increasingly justifies its use as a first-line test. PacBio CEO Christian Henry discusses the company’s long-read HiFi whole-genome sequencing, how it is reshaping the rare disease diagnostic journey, and the growing acceptance of the technology among payers.