A Netherlands implementation study presented at ESHG reported that long-read genome sequencing, using PacBio technology, improves interpretation and reduces the need for follow-up testing—shortening time to diagnosis. Researchers compared results after the first six months of long-read sequencing to prior short-read testing workflows. The team reported comparable diagnostic yield between modalities, with only a slightly enhanced rate that was not yet statistically significant. However, they emphasized workflow consolidation: improved variant interpretation and reduced downstream testing, alongside strong concordance between approaches. The program is described as moving from initial pilot indications to a broader set of disorders, including intellectual disability and visual impairment first, then coagulation disorders and hearing impairment. The group highlighted automation in sample preparation and sequencing capacity using multiple dedicated PacBio Revio systems configured for diagnostics.
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