August 30, 2016 | News from Invitae, Repositive, Princeton University, and more.
Sophia Genetics, global leader in Data-Driven Medicine, and Devyser, pioneer in diagnostic kits for complex DNA testing, announce today the signing of a new partnership to simplify the adoption of Next-Generation DNA Sequencing (NGS) for routine diagnostic laboratories. Under the terms of the agreement, Sophia Genetics’ advanced analytical platform, Sophia DDM, will support Devyser’s NGS diagnostic kits for hereditary breast cancer (Devyser BRCA) and cystic fibrosis (Devyser CFTR). Sophia Genetics’ and Devyser’s joint effort will immediately be launched worldwide to help routine diagnostic laboratories transition to NGS and obtain improved throughput, reduced hands-on time and trusted results. The solutions will be available through Devyser’s distribution network and to the more than 170 member hospitals of the Sophia DDM clinical genomics community. Press release
Invitae Corporation has released expanded test menus for neurological and cardiovascular diseases. New neurological panels include Parkinson’s disease, comprehensive panels for neuropathies, and expanded panels for other heredity neuromuscular diseases. Cardiovascular panels test for arrhythmias, cardiomyopathies, aortopathies and congenital heart disease. The new panels are priced in line with Invitae’s current pricing structure: as low as $950 for payers that are in contract with Invitae, $1,500 for out-of-network payers and $475 per clinical area out-of-pocket. All panels are available immediately to children’s hospitals, pediatricians and medical genetics professionals for clinical diagnosis and care. Press release.
Repositive, a software company developing novel tools to improve access to human genomic research data, has hired Manuel Corpas as Scientific Lead. Corpas was previously Project Leader for plant and animal genomes at The Genome Analysis Centre (TGAC), and his earlier roles included Sanger, EBI (European Bioinformatics Institute) and the Spanish National Bioinformatics Centre. He helped develop DECIPHER, a web based database for clinical diagnosis and management of patients with congenital abnormalities, and set up the EnDICTION systems biology database, which is used to integrate computer-generated predictions from the ENFIN network of excellence. At Repositive, Corpas will be responsible for building the scientific community around the Repositive platform via a series of workshops and key event presentations. He crowdfunded the DNA sequencing for both himself and his family, and he was the first to publish the complete collection of genomic data for his family online as Open Access. Corpas is also the ELIXIR-UK Technical Coordinator and board director of the International Society for Computational Biology (ISCB). Press release
Princeton University has joined the New York Genome Center (NYGC) as its newest Associate Member. This collaboration with Princeton’s Lewis-Sigler Institute for Integrative Genomics, will help strengthen NYGC’s focus on clinically actionable genomics and science. As an Associate Member, Princeton and the Institute’s faculty will have priority access to NYGC’s Integrated Genomic Solutions, including next-generation sequencing for exomes, whole genomes and RNA; bioinformatics analysis of sequencing results, using a high-performance computing environment; and data management and storage. In addition, the relationship offers access to NYGC’s CLEP-certified laboratory services and to new technologies through NYGC’s Innovation Center. Press release.
The Jackson Laboratory’s George Weinstock, JAX director of microbial genomics, has announced two sponsored research programs this month. With Shoreline Biome JAX is partnering to develop new ways to study the microbiome and develop new diagnostic approaches for disease-causing pathogens. Weinstock will work with Shoreline to analyze the entire metagenome (the collective genome of the microbiome) in order to identify individual organisms including pathogenic Clostridium difficile, a bacterium that causes diarrhea and more serious conditions such as colitis. (Press release) bioMérieux USA also launched a sponsored research program with the Weinstock lab to seek better methods to identify individuals at risk for infection, the pathogens that cause an individual’s infection, and which antibiotics offer the most effective treatment for the patient. (Press release)
Mobidiag, a Finnish molecular diagnostics company, today announced the launch of its CE-IVD marked Amplidiag Stool Parasites kit, a molecular test allowing detection of the main diarrhea causing stool parasites: Giardia lamblia, Cryptosporidium spp., Entamoeba histolytica and Dientamoeba fragilis. Amplidiag Stool Parasites is a qualitative multiplex PCR test allowing cost-effective and fast analysis of the most common gastrointestinal parasites found in stool by reducing substantially the burden of microscopy, time to process samples and hands-on-time. Press release
MDxHealth announced today that it has signed a distribution agreement with Teva to offer its SelectMDx for Prostate Cancer test to Teva's urology customers throughout Israel. Under the terms of the three-year agreement, Teva Pharmaceuticals will be the exclusive distributor of the SelectMDx for Prostate Cancer test in Israel. Samples will be sent to MDxHealth's state-of-the-art clinical diagnostic laboratory in Nijmegen, The Netherlands for analysis. Teva will reimburse MDxHealth for all the testing services. Press release