Specimen quality shapes the actionable genomic landscape in comprehensive cancer genomic profiling.
Biopsy quality directly affects cancer genomic testing results, highlighting the need for standardized sample collection to avoid missed treatment options.
This study examines how pre-analytical specimen quality factors affect the breadth of actionable genomic alterations detected in comprehensive cancer genomic profiling (CGP), finding that suboptimal specimens systematically miss actionable mutations and create false-negative precision oncology results. These findings have direct implications for standardizing biopsy protocols before CGP and for interpreting negative CGP results in clinical practice.
What the study was
- Study design
- retrospective_observational
- Population
- Cancer patients undergoing comprehensive genomic profiling
- Category
- Diagnostics
- Maturity
- Validated
- Journal
- NPJ Genomic Medicine
Why it surfaced
CGP quality impact on actionability is a practical implementation barrier for precision oncology; relevant to any health system deploying foundation medicine or similar CGP panels; Japanese real-world data adds geographic generalizability.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.