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Updated: Sep 22, 2025
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
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.
Abstract:
The lack of validated, distributed comprehensive genomic profiling assays for patients with cancer inhibits access to precision oncology treatment. To address this, we describe elio tissue complete, which has been FDA-cleared for examination of 505 cancer-related genes. Independent analyses of clinically and biologically relevant sequence changes across 170 clinical tumor samples using MSK-IMPACT, FoundationOne, and PCR-based methods reveals a positive percent agreement of >97%. We observe high concordance with whole-exome sequencing for evaluation of tumor mutational burden for 307 solid tumors (Pearson r = 0.95) and comparison of the elio tissue complete microsatellite instability detection approach with an independent PCR assay for 223 samples displays a positive percent agreement of 99%. Finally, evaluation of amplifications and translocations against DNA- and RNA-based approaches exhibits >98% negative percent agreement and positive percent agreement of 86% and 82%, respectively. These methods provide an approach for pan-solid tumor comprehensive genomic profiling with high analytical performance.
Insights
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.
