Molecular vendors met in Baltimore at the Association for Molecular Pathology meeting in Baltimore Wednesday for pre-convention corporate workshops and presentations. Not surprisingly, some news was made. Several vendors presented new solutions to chip away at result times. Thermo Fisher Scientific launched its Ion Torrent Genexus System, an integrated next-generation sequencing (NGS) platform featuring an automated specimen-to-report workflow that delivers results in a single day.

The company said its turnkey solution makes it realistic in the future that local hospitals could adopt NGS testing. It’s common now for hospitals to use a single-gene test, or outsource their complex genomic profiling to a reference lab, and that can take several weeks and require larger sample inputs, Thermo says. Larger sample input can lead to more quantity not sufficient (QNS) reports, meaning results are inconclusive.

“We can envision a time when patients at local hospitals will have faster access to comprehensive test results that can guide more effective, targeted therapy selection and improved health outcomes.” said Mark Stevenson, executive vice president and chief operating officer at Thermo Fisher Scientific.

Other developments include:

· Sequencing giant Illumina used the AMP meeting to announce the launch of TruSight™ Oncology 500 ctDNA (TSO 500 ctDNA), Illumina’s first liquid biopsy solution for detecting cancer biomarkers. The company said TruSIght provides labs the flexibility to analyze both tissue and liquid biopsy samples to uncover biomarkers using liquid biopsy where tissue samples are limited or unavailable, or to complement to tissue results by detecting biomarkers in circulating tumor DNA. The company also announced a high throughput system 500 Oncology High-Throughput, that can run up to 192 tissue samples on the NovaSeq 6000

· Carlsbad, CA-based ChromaCode, a target enrichment company announced the launch of its Multi-Drug Resistance (MDR) Panel. The system combines proprietary data science algorithms with widely-used, low-cost chemistries to enhance the multiplexing levels of common real-time and digital PCR instruments for detection of 5-50 targets in a single reaction. The company also detailed the performance of its HPDCR Tick-Borne Pathogen (TBP) Panel.

· Qiagen announced its simultaneous DNA/RNA Multimodal Panels, QIAseq, for comprehensive solid and liquid tumor profiling. The company said the product is the only solution to extract, enrich and sequence DNA variants and RNA fusions and assess gene expression in a single workflow from a single sample within a single day, where typically workflow is 2-3 days. The system uses an input as low as 10 ng of total nucleic acid, which conserves samples and reduces sample-induced bias present in other systems.

· Paragon Genomics announced several products including its CleanPlex® Hereditary Cancer Panel V2. The company said the product facilitates same-Day risk assessment of multiple hereditary cancers with reduced sample input, ease-of-use improvements and a 3-hour workflow. · Purigen Biosystems announced the launch of its small benchtop Ionic™ Purification System system, which utilizes the company’s core isotachophoresis (ITP) technology to extract, purify, and concentrate nucleic acids from biological samples in one hour with less than three minutes of hands-on time per sample.

· Menarini Silicon Biosystems debuted its new VRNxT™ volume reduction instrument for rare-cell and single-cell analysis. VRNxT removes manual pipetting steps. No specific skill sets or training are required for operation, thereby delivering user-independent results with high reproducibility and success, with 99% of single cells retained after volume reduction.

· Biocartis highlighted five opinion-leader studies that boosted its Idylla system, its real-time PCR based molecular diagnostics system. The company said the respective Idylla™ studies showed a strong performance of Idylla™ assays (RUO) compared to other methods including IHC2 and NGS3 in terms of concordance4, ease of use, workflow automation and turnaround times. For instance: Memorial Sloan Kettering Cancer Center researched the rapid assessment of EGFR, KRAS and BRAF mutations and MSI status on Idylla and found the system demonstrated excellent reproducibility as well as 100% concordance with reference methods, while a University of Alabama study concluded that the Idylla KRAS Mutation Assay could be an alternative method to rescue samples that appeared inadequate for a larger NGS-based panel, with the added benefit of a fast two-hour turnaround time.

· Asuragen highlighted user experiences with its new AmplideX® PCR/CE SMN1/2 Plus Kit for the quantification of SMN1 exon 7 copy number from whole blood and buccal samples. The company also featured its QuantideX® qPCR BCR-ABL IS Kit, QuantideX® qPCR BCR-ABL minor Kits and its NGS portfolio.

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