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A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours
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A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours
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Journal Article
A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours
2025
Overview
Targeted next generation sequencing (NGS) using multigene panels has become an effective tool for comprehensive genomic analysis in cancer, overcoming limitations of single gene assays. Nonetheless, outsourcing these assays to external laboratories and the extended turnaround time (~ 3 weeks) required for obtaining results may impede timely clinical management of cancer patients. We developed an oncopanel targeting 61 cancer-associated genes and validated its efficacy by performing NGS on 43 unique samples including clinical tissues, external quality assessment samples, and reference controls. The assay detected 794 mutations including all 92 known variants from orthogonal methods. Overall performance measures of the assay showed 99.99% repeatability and 99.98% reproducibility. Likewise, sensitivity to detect unique variants was 98.23%, with specificity at 99.99%, precision at 97.14% and accuracy at 99.99% all at 95% CI. Notably, clinically actionable mutations were observed in key genes such as
KRAS
,
EGFR
,
ERBB2
,
PIK3CA
,
TP53
and
BRCA1
. The average turnaround time from sample processing to results was reduced to 4 days. These findings demonstrate a sensitive, high throughput oncopanel that is suitable for use in routine clinical testing. The shorter turnaround time of the assay has the potential to significantly improve patient care by facilitating more timely and personalized clinical interventions.
Publisher
Nature Publishing Group UK,Nature Portfolio
