Radboud University Medical Center launched long‑read whole‑genome sequencing (WGS) using Pacific Biosciences technology as a frontline diagnostic test for genetic eye disease and severe intellectual disability. The center began routine trio and patient genome runs as part of a plan to sequence up to 5,000 genomes in the first year and potentially 25,000 annually across regional centers. Clinicians said long reads enable consolidation of multiple modalities — karyotype, FISH, microarray, PCR and targeted sequencing — into a single test by resolving structural variants and repeat expansions that short reads miss. The clinical implementation follows a 1,000‑sample prospective comparison presented at the European Society of Human Genetics. Radboud officials argued long‑read WGS can streamline diagnostics for rare disease and support broader adoption across health systems, while raising issues around cost, throughput and secondary‑test strategies for scaling clinical genomics.