Abstract 5905
Background
Developments in next generation sequencing (NGS) have revolutionized oncogenic biomarker detection, removing the limitations of single-nucleotide polymorphisms (SNPs) to allow for massive parallel sequencing to detect multiple oncogenic gene fusions. We believe NGS testing platforms are not uniform within the current solid tumor lab landscape, with NGS analysis capabilities ranging from SNPs only to SNPs and known gene fusions, potentially missing crucial biomarkers. The objective of this study was to determine the current NGS capability of solid tumor labs to detect unknown fusions.
Methods
This study used real-world clinical pathology solid tumor labs data from the United States, United Kingdom, France, Spain, Italy, and Germany that conduct NGS. The Diaceutics proprietary global database of more than 2500 labs was analysed across these markets in Q4 2018 to understand NGS testing capabilities currently available within the routine clinical lab setting.
Results
The results of the study are presented in the table. Of the 131 labs in the US performing NGS, only 50 were able to detect fusions. Of those 50 labs, 42 were restricted to using panels designed to detect specific known fusions. Only 8 labs in the US were able to detect unknown fusions. This pattern was reflected in labs surveyed in 5 other countries.Table: 1409P
Solid tumor labs: NGS panel use and gene fusion detection
Country | Number of solid tumor labs performing NGS | Number of labs that can detect fusions | Number of labs that can detect known fusions | Number of labs that can detect known and unknown fusions |
---|---|---|---|---|
US | 131 | 50 | 42 | 8 |
France | 39 | 11 | 7 | 4 |
Germany | 21 | 5 | 4 | 1 |
Spain | 23 | 4 | 4 | 0 |
Italy | 30 | 7 | 6 | 1 |
UK | 24 | 7 | 1 | 6 |
Conclusions
Labs are not well equipped to handle the pace of advancement in biomarker testing. While targeted treatments and companion diagnostics usher in a new age of precision medicine in cancer and extend survival times, many labs lack the technology needed to accurately identify emerging gene fusion biomarkers, especially unknown fusions. This results in both confusion among physicians regarding testing adequacy and missed opportunities for improved outcomes among patients.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Diaceutics.
Funding
Diaceutics.
Disclosure
S. Finucane: Full / Part-time employment: Diaceutics. S. Haridas: Shareholder / Stockholder / Stock options, Full / Part-time employment: Diaceutics. L. Handley: Full / Part-time employment: Diaceutics. J. Clark: Shareholder / Stockholder / Stock options, Full / Part-time employment, Officer / Board of Directors: Diaceutics. A. Jack: Shareholder / Stockholder / Stock options, Full / Part-time employment: Diaceutics. S. Munksted: Shareholder / Stockholder / Stock options, Full / Part-time employment: Diaceutics.
Resources from the same session
2888 - Development and validation a nomogram based on pathological microscopic features to predict survival in nasopharyngeal carcinoma and guide treatment decision
Presenter: Kuiyuan Liu
Session: Poster Display session 3
Resources:
Abstract
3607 - Deep learning in nasopharyngeal carcinoma: a retrospective cohort study of 3D convolutional neural networks on magnetic resonance imaging
Presenter: Meng Yun Qiang
Session: Poster Display session 3
Resources:
Abstract
5848 - Combined androgen blockade in patients with advanced androgen receptor–positive salivary gland carcinoma: Exploratory biomarker analyses
Presenter: Chihiro Fushimi
Session: Poster Display session 3
Resources:
Abstract
4484 - Classification of esthesioneuroblastoma (ENB) based on chromosome (chr) arm gain and loss (CNA) in the setting of a hypomutated genomic landscape
Presenter: Russell Madison
Session: Poster Display session 3
Resources:
Abstract
5753 - Trastuzumab plus docetaxel in patients with advanced HER2–positive salivary duct carcinoma: Exploratory biomarker analyses
Presenter: Hideaki Takahashi
Session: Poster Display session 3
Resources:
Abstract
3373 - Development and characterization of salivary gland cancer organoid cultures
Presenter: Wim Boxtel
Session: Poster Display session 3
Resources:
Abstract
3118 - A parent-of-origin effect of the RB1 mutations in retinoblastoma with low penetrance and variable expressivity
Presenter: Ekaterina Alekseeva
Session: Poster Display session 3
Resources:
Abstract
4512 - The humanistic burden reported by patients diagnosed with Recurrent/Metastatic Squamous Cell Carcinoma of the Head and Neck (R/M SCCHN) in Europe
Presenter: Prianka Singh
Session: Poster Display session 3
Resources:
Abstract
3961 - Concurrent Chemotherapy and External Radiation Therapy: An Open Label Non-Inferiority Phase III Randomized Controlled Trial of Weekly versus Three Weekly Cisplatin and Radical Radiotherapy in Locally Advanced Head and Neck Squamous Cell Carcinoma: CONCERT trial
Presenter: ATUL SHARMA
Session: Poster Display session 3
Resources:
Abstract
3973 - A randomized phase II study on the OPTimization of IMmunotherapy in squamous carcinoma of the head and neck (SCCHN) – OPTIM (AIO-KHT-0117)
Presenter: Viktor Grünwald
Session: Poster Display session 3
Resources:
Abstract