February 28, 2017 | News, products, and partnerships from around the diagnostics community including news from Illumina, Veritas Genetics, MDxHealth, and more.
Illumina today announced the launch of the iHope Network, a consortium of member institutions who have committed to providing clinical whole genome sequencing (cWGS) to underserved families. Today, the iHope Network consists of clinical laboratory members: Illumina, Genome.One, GeneDx, HudsonAlpha, and their affiliate healthcare partners. Through whole-genome sequencing the iHope Network and their respective clinical partners strive to end years-long diagnostic odysseys. These odysseys average seven years in length and include multiple inconclusive tests, surgeries, and procedures, many of which do not result in answers or treatment options for these children and their families. Press release
GenePeeks today announced partnerships with two leading fertility organizations: The Donor Solution, an independent egg donation agency, and 3 Sisters Surrogacy, a gestational carrier service. Through these partnerships, more prospective parents will have access to GenePeeks’ proprietary preconception genetic screening test, which assesses combined parental risk of passing on more than 1,000 serious genetic diseases. GenePeeks’ comprehensive approach, called Virtual Progeny Analytics (VPA), uniquely integrates simulated DNA information from two genetic participants to predict the future genome of a child prior to conception. Press release
Veritas Genetics has welcomed Birgit Funke as Vice President of Clinical Affairs. Veritas Genetics announced their genome sequencing services last year. A board-certified clinical molecular geneticist, Funke is also an Associate Professor of Pathology at Harvard Medical School. In her new role, Funke joins Veritas Genetics’ team of over 100 people made up of curators, bioinformaticians and developers to streamline the company’s interpretation process, implement automation and deliver actionable, clinical insights to consumers (and their physicians) around the world. In addition to joining Veritas Genetics, Funke will continue her work at Partners Healthcare’s Laboratory of Molecular Medicine, a CLIA-certified molecular diagnostic laboratory. Throughout her many years of driving advances in genetics, Funke has been at the forefront of employing groundbreaking discoveries, including being among the first to implement next generation sequencing in a clinic setting. Press release
MDxHealth announced that it has signed a distribution agreement to make its SelectMDx for Prostate Cancer test available to Istituto Diagnostico Varelli’s urology clients throughout central-south Italy. Under the terms of the agreement, Istituto Diagnostico Varelli will serve as a non-exclusive distributor in Italy encompassing five of the country’s 20 regions; Lazio, Apulia, Campania, Calabria and Basilicata. Liquid biopsy samples will be sent to MDxHealth's state-of-the-art clinical diagnostic laboratory in Nijmegen, The Netherlands for analysis. Istituto Diagnostico Varelli will reimburse MDxHealth for all testing services performed. Press release
Perthera has developed a report empowering cancer patients to make informed decisions regarding their treatment options. Perthera began distributing this innovative report to patients, which it believes to be the first of its kind, on February 10, 2017. Until this report was developed, patients received a report created for medical professionals and their treating oncologists, which was often 50 pages long. Perthera's Director of Operations, Kimberly Mason, was very aware of patients' frustrations with the previous medical report. “One of the most significant parts of our process is to produce a Precision Cancer Analysis (PCA) that provides a complete molecular analysis of their tumor. The report, and the specific recommendations it provides, often becomes central to the oncologist's treatment strategy. So, naturally, patients want to gain a better understanding of the report. Unfortunately, that knowledge has not been easily attainable,” wrote Kimberly Mason, Perthera's Director of Operations. Press release
SpeeDx announced that the authors of the review, Antimicrobial-resistant sexually transmitted infections: gonorrhoea and Mycoplasma genitalium, published in Nature Reviews Urology recommended that appropriate M. genitalium diagnostic testing become available on a routine basis in clinical practice and should ideally be supplemented with molecular detection for antibiotic resistance. Currently, SpeeDx has the only commercially available test capable of simultaneously detecting the sexually transmitted infection (STI) M. genitalium and antibiotic resistance status. SpeeDx ResistancePlus MG test is CE marked for sale in Europe and TGA approved for sale in Australia. SpeeDx plans to seek a de novo clearance for the test with the U.S. Food and Drug Administration this year. Press release
Pharmaceutical Product Development (PPD) has established a Rare Disease and Pediatric Center of Excellence to oversee all rare disease and pediatric-related drug development activities. This new center of excellence provides pharmaceutical and biotechnology clients with a dedicated team of professionals focused on the design and execution of clinical trials that address the unique strategic, operational, medical, and scientific challenges of clinical studies in rare disease and pediatric patient populations. Press release
Sophia Genetics announced that ten new genomic institutions from Latin America have started using SOPHiA - the company’s AI - to democratize access to clinical genomics on the continent, and improve patient diagnosis and care. Using the Sophia DDM advanced SaaS analytics platform for clinical genomics, the institutions will first deploy SOPHiA for hereditary cancer diagnosis. In the Hispanic population, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes, such as Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancers, which can all be diagnosed using SOPHiA. In this context, SOPHiA will help leverage genomic data to improve and accelerate patient diagnosis and care. The increased use of SOPHiA in Latin America will also ensure that the highest standard of genomic testing is provided to all patients in need, and that they have access to the latest advances in the detection of hereditary cancers. Following a first partnership announced in October 2016 with DASA, the largest medical diagnostic company in Latin America, SOPHiA has been rapidly adopted in the region for its superiority and ease of use to obtain actionable insights from genomic data and improve patient care. Press release
Cofactor Genomics has launched a clinically-validated oncology assay which provides unique insight into a patient’s cancer profile. The assay, named Cofactor Pinnacle, utilizes the company’s proprietary software technology to compare each patient’s cancer expression profile to Cofactor’s database of thousands of expression profiles from the same cancer type. The assay reports on both aberrant oncology-relevant gene expression and known cancer gene fusions detected in the tumor sample. In 2016, after multi-year efforts to standardize and certify Cofactor’s foundational molecular protocols for clinical use, Cofactor became one of the first laboratories to receive CAP-accreditation for RNA-seq. Pinnacle is built on the foundation of these protocols; the assay is currently approved for use with Formalin-Fixed, Paraffin-Embedded (FFPE) tumor tissue. Press release