Sophia Genetics Partners with Swift Biosciences to Offer Combined Solution for Molecular Diagnostics in Europe

9 Feb 2016
Lois Manton-O'Byrne, PhD
Executive Editor

Industry news

Sophia Genetics, the global leader in Data Driven Medicine (DDM), has announced the launch of a new combined solution for molecular diagnostics in Europe, combining sampling processing with data analysis. In an initial partnership with Swift Biosciences, a U.S.-based company, Sophia Genetics is creating a foundation of strategic partners providing gene panels with Sophia’s genomic analysis platform, Sophia DDM™, offering hospitals and labs a streamlined solution for molecular diagnostics.

In the development of Sophia’s advanced machine-learning based technologies - Pepper™, Muskat™, and Moka™ - Sophia employed the data from thousands of clinical samples processed with multiple enrichment technologies and sequenced on the market leading next generation sequencing (NGS) platforms. By utilizing this rich data set coupled with Sophia’s machine learning algorithms, Sophia has been able to identify the different noise and biases that can occur in an NGS data set. The Sophia DDM™ platform allows robust and accurate variant calling coupled to powerful clinical annotations, which in turn allows clinicians utilizing Sophia DDM™ to provide more accurate patient diagnosis and subsequent tailored treatments.

With this new combined solution, Sophia offers hospitals and labs improved turnaround time for sample processing and a top analytical performance system through Sophia DDM™, the world's largest clinical genomics community for molecular diagnosis. Accel-Amplicon Panels from Swift Biosciences deliver a complete sample prep solution in a single kit with the fastest workflow available for amplicon based gene panels that work on the two major NGS platforms. The simple workflow reduces potential for sample processing errors and provides consistent results from a variety of sample types. The first combined solution offered by Sophia Genetics will be the Accel-Amplicon 56G Oncology Panel that provides analysis across 56 cancer related genes, using 10 ng of input from either FFPE or liquid biopsy samples, providing European pathology laboratories with a complete solution from clinical sample preparation to clinical reports. Several new custom amplicon panels will be made available for Sophia Genetics’ Sophia DDM™ platform through 2016. The combined benefits promise to accelerate access to personalized and precision medicine for thousands of patients in Europe.

As the initial company to partner with Sophia Genetics, Timothy Harkins PhD, CEO of Swift Biosciences, explained “The combination of Swift's amplicon products with Sophia DDM™ is simplifying the workflow in personalized medicine. NGS has long provided the promise of transforming how molecular pathology can be used to the benefit of medicine, and this partnership helps eliminate many of the workflow and noise barriers that prevented the community from reaching this potential. This is just the first step for our companies in a strategic partnership that will help lead and transform the industry.”

Jurgi Camblong, CEO and founder of Sophia Genetics added “Our new combined solution for molecular diagnostics will speed the adoption of DNA Next Generation Sequencing technologies in Europe. To start with, it will benefit the existing 120 hospital members of our clinical genomics community for molecular diagnosis. The process of genetic testing entails many steps that can introduce a lot of noise into the data, and we are thrilled to ease and improve this process to the benefit of patients.”

Already a global leader in data driven medicine, this new combined solution promises to provide Sophia Genetics with additional growth drivers moving forward, as more similar strategic partners are expected to join, and more hospital and labs to adopt DNA NGS smart solutions.

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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.Clinical ChemistryBiochemistry (or clinical chemistry) involves the analysis of bodily fluids using chemical tests. Techniques used include HPLC, chromatography, spectroscopy, mass spectrometry, immunochemical, electrophoresis, turbidometric / spectrophotometric assay, MRI and ISE analysis. Tests are often carried out on plasma or serum but urine (urinalysis) and fecal specimens are also processed.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Sample PreparationSample preparation can improve the quality and speed of separation techniques. Products to assist sample preparation include filtration equipment, evaporators, membranes and sieves.NGSClinical ChemistryClinical chemistry involves the analysis of bodily fluids, like blood and urine, to diagnose and monitor diseases. Tests in clinical chemistry provide critical information for patient care and treatment decisions. Explore clinical chemistry tools in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.Single Cell GenomicsMolecular DiagnosticsMolecular diagnostics use an individual’s genetic code and gene expression to diagnose and monitor diseases. The technique is used increasingly in the field of infectious diseases and oncology, as well as areas such as coagulation, HLA typing and pharmacogenomics. Molecular diagnostics plays a pivotal role in personalized medicine.Sample ProcessingSample processing is required to prepare samples prior to analysis. Technologies used for sample processing include homogenizers, grinders, mills and mixers.Cancer DiagnosticsThere are a wide variety of diagnostic tests for cancer available, and this range continues to expand as our knowledge of cancer improves. Current diagnostic methods include biopsy, imaging and blood tests for known biomarkers. New methods in research development include liquid biopsies and cancer breathalyzers.