The increased use of next-generation sequencing (NGS) in clinical settings to analyze cancer biomarkers is starting to deliver on the promise of personalized medicine and precision oncology by helping to improve early cancer detection and guiding therapeutic decisions. However, for the benefits of precision medicine to be fully realized, more laboratories must be able to access NGS technologies in-house, and NGS results must be delivered to patients faster.
A retrospective study supported by Thermo Fisher Scientific and presented at the 2022 American Society of Clinical Oncology (ASCO) annual meeting highlighted the importance of delivering diagnostic results rapidly to help improve patient outcomes. The study authors reported that of 525 stage IV non-small cell lung cancer (NSCLC) patients harboring actionable oncogenic driver (AOD) mutations, 384 patients received their results identifying the AOD prior to starting therapy guiding the decision to treat with targeted tyrosine kinase inhibitors (TKI). However, 141 of them (27 percent) did not receive results before starting treatment and therefore received suboptimal chemotherapy, an immune checkpoint inhibitor, or both.
The 384 patients that received TKI therapy had better outcomes than the 141 patients that had their treatments started with the non-targeted therapies, suggesting that treatment outcomes were significantly compromised when treatment was initiated before tumor profiling results were available.
Testing efforts that rely on investigating single genes “simply cannot keep up the pace” with the increasing number of tumor-specific therapies on the market for certain tumor types, said Luca Quagliata, vice president and global head of medical affairs at Thermo Fisher Scientific. In response to the results presented at ASCO, Quagliata highlighted that there remains a need to get NGS results faster and closer to the patients to help avoid unnecessary therapies when more tailored treatment may be possible.
Helping Accelerate Better Informed Cancer Treatment Decisions with the Genexus Dx Integrated Sequencer
To address this need for a fast and broadly implementable NGS solution, Thermo Fisher has launched the Ion Torrent Genexus Dx Integrated Sequencer (CE-IVDR) in certain countries, with additional countries planned soon.
“The Genexus Dx Integrated Sequencer is removing multiple barriers to broader NGS adoption in clinical testing by providing a fast, easy, and automated NGS workflow in the countries where it is available,” according to Kathy Davy, vice president and GM in clinical sequencing solutions at Thermo Fisher Scientific. The sequencer returns results in as little as 24 hours with only one touchpoint and 10 minutes of hands-on time for loading nucleic acid samples. The rest of the NGS workflow, including library preparation, sequencing, and bioinformatics analysis, is streamlined with simplified automation.
The Genexus Dx sequencer is powered by intuitive software operated via touchscreen interface. This software also performs the data analysis and organizes the NGS results into tabs designed for easy interpretation, even for someone without a background in bioinformatics. In addition, prepackaged workflows provide simple ways to generate data, implement quality control checks, and assess instrument diagnostics. The high level of automation, embedded software, and prepackaged workflows are intended to make the sequencer easily implementable in a broad spectrum of labs even without previous experience, helping bring valuable clinical NGS testing closer to patients.
The Oncomine Dx Express Test Delivers Fast NGS Analysis of Relevant Oncology Biomarkers in as Little as 24 Hours
Thermo Fisher's Ion Torrent Oncomine Dx Express Test (CE-IVDD) enables simultaneous assessment of multiple genomic variants, including single-nucleotide variants, insertion-deletion mutations (indels), copy-number variants, and gene fusions and splicing variants across 46 genes in multiple solid tumors, starting from formalin-fixed, paraffin-embedded tissue or liquid biopsy specimens. This fast, specimen-to-report solution is also designed for ease of use and minimal hands-on time. “Making the test more accessible to a greater number of users has the potential to help improve patients' access to precision oncology by giving their clinical teams access to information to potentially match patients to more targeted therapies,” said Quagliata.
The Oncomine Dx Express Test allows laboratories to provide clinicians with a consolidated biomarker report — which includes results generated by other techniques such as immunohistochemistry and NGS — in a matter of days, with the goal of enabling clinicians to make better-informed patient care decisions. When used with Ion Torrent Oncomine Reporter Dx software (CE-IVDD), a report is generated matching the biomarker results to approved therapies, guidelines, and clinical trials.
According to Davy, Thermo Fisher has a consistent track record for preparing in vitro diagnostic kits with companion diagnostic claims for solid tumors, and the company is well-positioned to develop NGS-based IVD assays on the Genexus Dx platform for making CDx claims for precision medicine.
The Promising Future of NGS-Based Diagnostics
With more known about how biomarkers can help inform response to treatment, there is increasing emphasis on having actionable genomic insights available to inform care decisions, as well as a deeper understanding of the real impact that time-to-results can have on patient outcomes. By simplifying next-generation sequencing, Thermo Fisher is helping empower many labs to provide comprehensive molecular profiling to help advance precision oncology and personalized medicine.
Abbreviated Intended Use: The Oncomine Dx Express Test is a qualitative in vitro diagnostic test that uses targeted next-generation sequencing (NGS) technology, the Ion Torrent Genexus Dx System, to detect deletions, insertions, substitutions, and copy number gain present in 42 genes and fusions in 18 genes from DNA and RNA extracted from formalin-fixed, paraffin-embedded (FFPE) tumor tissue samples. The Oncomine Dx Express Test also detects deletions, insertions, substitutions in 42 genes, and fusions in 7 genes from cfTNA extracted from plasma samples. The Oncomine Dx Express Test is intended to provide clinically relevant tumor mutation profiling information to be used by qualified health care professionals in accordance with professional guidelines as an aid in therapy management of cancer patients with solid malignant neoplasms using FFPE samples and as an aid in therapy management of cancer patients with non-small cell lung cancer using plasma samples. It is not conclusive or prescriptive for labeled use of any specific therapeutic product.
For In Vitro Diagnostic Use. Not available in all countries including the United States.
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