Implementation results presented at the European Society of Human Genetics meeting in Gothenburg show that first-tier long-read genome sequencing can reduce follow-up testing and shorten time to diagnosis, even when diagnostic yield is broadly comparable to short-read testing. The study compared outcomes for the first six months of long-read clinical use against the prior year’s short-read approach. The program used PacBio long-read sequencing and reportedly achieved high concordance across modalities, while improving interpretation and consolidating workflows. The sponsor team is rolling out indications sequentially—starting with intellectual disability and visual impairment, then adding coagulation disorders and hearing impairment—while automating prep on Hamilton liquid handling and running dedicated PacBio Revio machines.
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