In a study of 54 children with suspected or confirmed cancer, rapid whole-genome sequencing (rWGS) produced clinically interpretable reports in an average of 3 days, compared with 42 days across testi
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Rapid WGS detected 147 of 155 clinically actionable variants identified by any method, compared with 138 of 155 for routine whole-genome sequencing.
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Routine whole-genome sequencing took an average of 63 days for hematologic malignancies and 29 days for solid tumors, whereas rWGS took 3 days for both groups.
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Clinicians reported measurable care improvements for 17 of 35 prospectively assessed patients, including faster diagnosis, precision treatment access, and avoidance of unnecessary investigations or th
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The small, single-center, nonrandomized study was not designed to assess clinical impact or cost savings, and larger multicenter studies are needed to evaluate rWGS reproducibility, cost-effectiveness
