Courtagen, Certainty Health Create Platform to Share Data on Neurological Diseases
The molecular information company Courtagen Life Sciences has entered an agreement with Certainty Health to implement a cloud-based collaborative ecosystem that will accelerate knowledge sharing of critical genotypic to phenotypic correlations—as well as physician-driven treatment data—for neurological diseases. Certainty Health is developing the world’s first mobile precision medicine platform that promises healthcare providers and their patients actionable molecular knowledge about neurological diseases, the diagnostics to detect them, and the treatments available. Under the terms of the agreement, Courtagen will have exclusive access to this platform, and the two companies will map Courtagen’s clinical data into Certainty Health’s platform in a manner that is compliant with the Health Insurance Portability and Accountability Act of 1996.
“We are learning that many diseases like epilepsy, developmental delay, and autism are not single, common diseases, but really collections of diseases, some common, some quite rare,” said Brendan McKernan, president and chief operating officer of Courtagen. “It’s impossible for physicians to become experts in all of these rare diseases, and difficult to diagnose without genetic testing due to the overlapping nature of the symptoms, but a collaborative ecosystem, like the one we’re building with Certainty Health, will enable physicians to benefit from the group knowledge of their colleagues around the world and entirety of our test data.”
Edico, Amazon Join Forces to Achieve Real-Time Genomic Analysis
Edico Genome is deploying Dragen, a bio-information technology processor designed to analyze next-generation sequencing data, on Amazon Web Services’ newly available Amazon EC2 F1 instances, which are field programmable gate array (FPGA)-enabled virtual servers in the cloud. Edico believes this could potentially reduce analysis times for a whole genome from 26 minutes to real time. Dragen uses FPGA to provide hardware-accelerated implementations of genome pipeline algorithms, such as conversion of files in binary base call format, compression, mapping, alignment, sorting, duplicate marking, and haplotype variant calling. The following end-to-end, clinical-grade pipelines are also currently available on the Dragen platform: genome/exome, transcriptome/RNA-seq, epigenome/methyl-seq, metagenome/microbiome, joint genotyping, and the Genome Analysis Toolkit version 3.6 software. Dragen’s deployment on the cloud will provide users with the flexibility to scale up to the cloud during times of high capacity and return to on-site analysis when demand is reduced. Both systems will be managed through the Dragen web portal, and pipelines will be identical whether executed in the cloud or on-site.
Roche Ends Collaboration With Pacific Biosciences
Roche has elected to terminate the development, commercialization, and license agreement it signed in 2013 with Pacific Biosciences for the development and supply of diagnostic products based on Pacific Biosciences’ Single Molecule, Real-Time (SMRT) technology. Upon termination, Roche will retain certain nonexclusive rights to use products already purchased from Pacific Biosciences under the agreement. Otherwise, Roche will have no rights to SMRT technology, and Pacific Biosciences will be free to commercialize products based on the Sequel sequencing platform that the company developed during its collaboration with Roche. “We are prepared to immediately pursue opportunities in the clinical research and sequencing market that do not require the supply of assay-specific kits, and we have already seen interest from customers in this space,” said Michael W. Hunkapiller, PhD, CEO of Pacific Biosciences. “The quality framework we have developed while working with Roche and our ISO 13485 and ISO 9001 certifications position us well to address this market.”
Singulex, Thermo Fisher to Develop Test for Sepsis, SIRS
Singulex has entered a license and supply agreement with Thermo Fisher Scientific that provides Singulex access to Thermo Fisher’s Brahms PCT assay for procalcitonin. In Europe, this assay is used to diagnose systemic bacterial infection and sepsis, while in the U.S. it aids in assessing the risk of critically ill patients developing severe sepsis and septic shock, as well as the risk of mortality in patients diagnosed with sepsis. Under the terms of the agreement, Singulex will combine its proprietary Single Molecule Counting (SMC) technology with Brahms PCT to develop a sepsis and systemic inflammatory response syndrome rule-out and rule-in test for the Sgx Clarity system. The Sgx Clarity system is currently in development and is a fully automated, next-generation immunodiagnostics platform designed to bring Singulex’s SMC technology to hospital and reference labs worldwide. SMC technology is highly sensitive, and the two companies believe that applying it with the Brahms PCT assay will enable the detection of procalcitonin at levels lower than previously attainable.
Celgene, Dana-Farber, University of Arkansas Launch Myeloma Genome Project
Celgene, Dana-Farber Cancer Institute, and the University of Arkansas for Medical Sciences have established the Myeloma Genome Project, a collaboration that aims to compile high-quality genomic and clinical data to identify distinct molecular disease segments within multiple myeloma. Current technologies have discovered five major translocation groups within myeloma patients and these mutations have demonstrated varying effects on prognosis. To build on this, the Myeloma Genome Project is looking at minor translocation and mutational groups that are often poorly described due to small sample numbers in limited data sets. The project has already established a set of 2,161 patients for whom whole exome sequencing, whole genome sequencing, targeted panel sequencing, and expression data from RNA-sequencing and gene expression arrays are available. As the next step, the initiative has begun to integrate these diverse, large genomic data sets and is identifying genetic information that may inform clinical targets for therapy as well as the development of new tests.
Trovagene, Boreal Genomics Partner on Blood and Urine ctDNA Kits
Trovagene has entered a long-term supply and distribution agreement with Boreal Genomics, under the terms of which they will co-develop urine and blood circulating tumor DNA (ctDNA) assay kits. Through this partnership, the companies aim to address a gap between single-gene PCR assays that can be limited by sample availability and broad, expensive multigene panels hindered by low clinical sensitivity for mutation detection. They will each contribute proprietary technology and methods to develop a series of low-cost ctDNA assays for next-generation sequencing platforms run by laboratories of research institutions and cancer centers around the world. Initially, the panels will be designed to cover National Comprehensive Cancer Network-listed clinically actionable mutations for which there are targeted therapies or treatment options available. The companies intend to develop additional panels throughout the partnership as well, and Trovagene plans to globally distribute the assay kits for use on the Boreal OnTarget system.