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Automated next-generation profiling of genomic alterations in human cancers
Laurel A Keefer1, James R White1, Derrick E Wood1
1Personal Genome Diagnostics Inc., Baltimore, MD, 21224, USA.
Nature Communications
|May 20, 2022
Summary
A new FDA-cleared assay, elio tissue complete, offers comprehensive genomic profiling for cancer patients. It demonstrates high accuracy and concordance with other methods, improving access to precision oncology.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Limited access to comprehensive genomic profiling (CGP) hinders precision oncology for cancer patients.
- Validated and distributed CGP assays are crucial for personalized cancer treatment.
Purpose of the Study:
- To introduce and validate elio tissue complete, an FDA-cleared CGP assay.
- To assess the analytical performance of elio tissue complete across various genomic alterations.
Main Methods:
- elio tissue complete assay for 505 cancer-related genes.
- Independent validation using MSK-IMPACT, FoundationOne, and PCR-based methods.
- Comparison with whole-exome sequencing for tumor mutational burden and PCR for microsatellite instability.
Main Results:
- Positive percent agreement >97% for sequence variants compared to established methods.
- High concordance (Pearson r = 0.95) with whole-exome sequencing for tumor mutational burden.
- Excellent agreement for microsatellite instability (99%) and high agreement for amplifications/translocations (>82%).
Conclusions:
- elio tissue complete provides accurate and reliable comprehensive genomic profiling for solid tumors.
- This assay enhances accessibility to precision oncology by offering high analytical performance.
- The validated assay supports broad application in clinical settings for cancer patient management.
