Researchers at Broad Clinical Labs, in collaboration with Roche and Boston Children’s Hospital, demonstrated an ultra‑rapid whole‑genome sequencing workflow using Roche’s Sequencing-by-Expansion (SBX) prototype that reduced sample-to-results time to a mean of about four hours and as fast as 3 hours 57 minutes. The study—reported in the New England Journal of Medicine and presented at ASHG—validates an end-to-end protocol optimizing extraction, library prep, expanded-molecule synthesis and analysis for critically ill neonatal patients. The record turnaround sets a benchmark for same‑day diagnostic genomics in acute care and neonatal intensive care units, where faster genetic answers can change management. Authors highlighted remaining operational and validation hurdles for clinical deployment, including scalability, cost, and the regulatory pathway for an instrument not yet commercially launched. If commercialized and integrated into clinical workflows, ultra‑rapid WGS could shift triage and treatment decisions in intensive care, but payers and hospital labs will weigh throughput needs and reimbursement models before broad adoption.
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