Radboud University Medical Center has implemented long‑read whole‑genome sequencing (WGS) from Pacific Biosciences as a frontline diagnostic test for genetic eye disease and severe intellectual disability, beginning with patient genomes and parent‑patient trios. The center plans to process up to 5,000 genomes in the coming year as it phases out multiple traditional tests including PCR, karyotyping, microarrays and targeted panels. Radboud’s rollout follows a 1,000‑sample prospective comparison against standard‑of‑care sequencing presented at the European Society of Human Genetics; investigators cited long reads’ ability to resolve structural variation and complex regions that short reads miss. The clinical deployment marks a significant commercial step for PacBio into accredited diagnostic labs and sets a model for consolidating germline testing into a single long‑read WGS assay, with implications for diagnostics labs, payers and test‑platform procurement strategies.
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