Thermo Fisher Scientific announced the launch of its Ion Torrent System, the first fully integrated, next-generation sequencing (NGS) platform featuring an automated specimen-to-report workflow that delivers results economically in a single day. Launched at the Association for Molecular Pathology (AMP) 2019 annual meeting, this turnkey solution redefines the genomic profiling paradigm and enables a future in which local hospitals can adopt NGS testing. The company also introduced its Oncomine Precision Assay*, an innovative pan-cancer panel for the Genexus platform. It enables comprehensive genomic profiling from formalin-fixed, paraffin-embedded (FFPE) tissue and liquid biopsy samples with a single assay.
A recent study in the journal Clinical Lung Cancer underscores the logistical challenges that limit local hospitals from providing NGS-based genomic testing today even though that is where most patients are treated. Due to NGS adoption barriers, including product complexity and cost, the vast majority of local molecular laboratories rely on limited single-gene tests. Since this testing approach does not provide a complete genomic profile of a tumor, some laboratories choose to outsource sample testing for more comprehensive NGS analysis.
Outsourced NGS testing by reference laboratories that use other on-market NGS platforms are plagued by two major issues: results that take several weeks, as highlighted in a Cancers article, and larger sample input requirements. Stringent sample requirements often lead to quantity not sufficient (QNS) reports, meaning results are inconclusive. Cancer clinical research studiespublished this year show QNS rates ranging from 17 to 23 percent, excluding samples not submitted because they failed to meet sample quantity criteria. These issues are often incompatible with timely treatment decisions and can lead to poor clinical outcomes.
The Genexus System changes the current paradigm. Its turnaround time and fully automated workflow minimize user intervention and the potential for human error. The system also requires minimal amounts of tissue sample and can run small batches cost-effectively to deliver a comprehensive report in one day. Together, these features set the stage for molecular pathologists in the future to analyze NGS information in parallel with first-line testing modalities, such as immunohistochemistry (IHC).
Laboratories can scale their sequencing runs with an innovative sequencing chip design that will enable in-house sequencing facilities to cost-effectively process small batches of samples as they arrive at the lab. The Genexus System includes the Genexus Integrated Sequencer, the Genexus Purification System and an onboard reporting software.
The system and its associated reagents are manufactured in an ISO 13485 facility that is registered with the U.S. Food and Drug Administration (FDA). Thermo Fisher plans to seek FDA approval of the Genexus System to accelerate future development of a broad menu of diagnostic assays in oncology and other clinical applications.