Sequencing
Company Announcements
In April, Parent Project Muscular Dystrophy selected PerkinElmer Genomics to provide genetic testing for its Decode Duchenne program. This new comprehensive assay will pick up sequence variants, as well as provide base pair resolution of deletions and duplications mutations within the Duchenne gene. Individuals with a negative gene targeted Duchenne assay can access a 131 gene panel targeting neuromuscular disorders, with an opportunity to receive full whole-exome testing. PerkinElmer Genomics will also offer carrier testing, along with support for families.
PerkinElmer Genomics announced in April a collaboration with personal genomics firm Helix to develop and commercialize exome sequencing–based tests for consumer proactive health management decisions. The initial targeted product offering will return results for 59 genes that the American College of Medical Genetics and Genomics identifies as highly penetrant genetic conditions with established interventions aimed at significantly reducing morbidity and mortality. All DNA sequencing data for these products will be generated utilizing Helix’s proprietary Exome+ assay in its CLIA- and CAP-certified NGS laboratory.
Illumina announced in April a strategic partnership with Loxo Oncology to develop and commercialize a multigene panel for broad tumor profiling, resulting in a distributable, NGS-based companion diagnostic with a pancancer indication. The codevelopment partnership will seek approval for a version of the Illumina TruSight Tumor 170 as a companion diagnostic for Loxo Oncology’s larotrectinib, which targets NTRK gene fusions, and LOXO292, which targets RET gene alterations, across tumor types. Illumina will lead regulatory activities related to the Class III plans for NTRK and RET, the Class II plans for the tumor profiling content and CE marking.
In April, Hitachi High-Technologies participated in a Series B financing round of OmniSeq, a molecular diagnostics subsidiary of the Roswell Park Comprehensive Cancer Center. Hitachi High-Technologies also gained an option to exclusively license OmniSeq Comprehensive and Immune Report Card for clinical distribution in Japan. These products are now exclusively offered by LabCorp, which also participated in the financing round. Immune Report Card is a first-in-kind comprehensive immune profiling test, designed to inform oncologists regarding checkpoint inhibitor treatment decisions.
In April, St. Jude Children’s Research Hospital, Microsoft and DNAnexus launched St. Jude Cloud, an online data-sharing and collaboration platform that provides researchers access to the world’s largest public repository of pediatric cancer genomics data.
HTG Molecular Diagnostics promoted John Lubniewski, chief business officer, to president and COO in April.
In April, PierianDx entered in a collaboration with research institute RTI International to help solve the problem of translating complex genomic data into actionable clinical insights. The collaboration includes investment and other strategic support to help advance PierianDx’s growth plan.
In April, BC Platforms and Abomics announced a cooperation agreement to promote a novel pharmacogenetics technology. Data will be processed by BC Platforms’ genomic data management platform and the pharmacogenetic status will be interpreted by Abomics’ machine learning PGx interpretation service.
Oxford Nanopore added three new service providers in April: Keygene, Microbes NG and Sequencing Platform of I2BC.
Product Introductions
In April, LifeMap Sciences, a subsidiary of AgeX Therapeutics, released version 3.0 of its TGex clinical genetics platform, which includes phenotype-driven analysis and interpretation for structural variations. TGex now offers rapid whole-genome sequencing analysis and interpretation for rare pediatric disorders for both SNV and structural variations.
Swift Biosciences launched in April the Accel-NGS Unique Dual Indexing Kits for Illumina platforms. The Kits address read mis-assignments to open up new applications, such as tumor mutation burden profiling.
In April, Swift Biosciences debuted its Accel-Amplicon Plus Cancer NGS Panels, a suite of nine tumor-specific and focused gene panels. Accel-Amplicon Plus provides a modular, mix-and- match capability that gives translational laboratories greater flexibility to deploy more than one strategy. Each assay can be designed to accommodate up to 1500 amplicons per panel. The company also launched the Swift Bioinformatics Resource, an open source and commercial solution initially supporting Swift’s targeted resequencing workflows.
In April, QIAGEN launched the AdnaTest Prostate Cancer Panel AR-V7 Kit, a liquid biopsy panel. With an exclusive worldwide license from Johns Hopkins University for nucleic acid detection of the AR-V7 biomarker for diagnostic use, QIAGEN is now launching the test for research use.
SeraCare Life Sciences added in April the ctDNA Complete and ctDNA Panels to its portfolio of ctDNA reference materials, expanding the Seraseq product line to also cover CNVs.
Hamilton announced in April the integration of Coastal Genomics’ LightBench with Ranger Technology onto its NIMBUS Select and all Hamilton liquid handling platforms. Together, they automate DNA protocols and enable fully automated electrophoresis for size selection or QC. Combined LightBench and Hamilton liquid handler systems are also ideal for automated microplate-based fragment length distribution analysis and fluorescent quantitation before and after size selection.
Sales and Orders of Note
PierianDx announced in April that TriCore Reference Laboratories will utilize the company’s Clinical Genomics WorkSpace (CGW) platform. In addition to implementing CGW, PierianDx will partner with TriCore to bring to market new NGS assays, streamline the genomic data management process, customize reporting, and optimize the variant review and sign-out process.
Texas A&M AgriLife Research announced in April the installation of a PerkinElmer Sciclone G3 NGS Workstation and JANUS G 3R NGS Express Workstation at the AgriLife Research Genomics and Bioinformatics Service. The collaboration’s first output will be the development of an exclusive first-of-its-kind academic genotyping pipeline called AgSeq. AgSeq combines Illumina‘s latest sequencing technology, PerkinElmer’s automation in library preparation, and a proprietary sample barcoding system to provide low-cost genotyping-by-sequence using low-coverage whole-genome sequencing.
