Data Management, New NGS Panels: News and Briefs

August 1, 2016

August 1, 2016 | News and product launches from bio IT, clinical IT, and diagnostics technologies include data management installation at Scripps Research Institute and new NGS panels for detection of extremely rare (low-frequency) mutations. 

Data Management Investment

Reltio has raised $22M in Series B funding for its data management platform. New Enterprise Associates (NEA) joins existing investors, Crosslink Capital and 406 Ventures. The new financing will be used to extend Reltio’s leadership position in modern data management through accelerated hiring and continued expansion into global markets. Press release.

Digital NGS Technology

QIAGEN has launched a comprehensive portfolio of novel QIAseq NGS panels based on a new and proprietary “Digital NGS” technology allowing unbiased, accurate quantification of DNA, RNA, and miRNA with next-generation sequencing (NGS). Digital NGS leverages a unique Molecular Index Technology enabling more accurate quantification and detection of molecular variants across all sequencing platforms. Coupled with advanced primer design and proprietary assay chemistry, the QIAseq Targeted panels enable reliable detection of extremely rare (low-frequency) mutations as well as highly efficient sequencing of GC-rich regions. In addition, this approach ensures accurate identification and quantitation of otherwise frequently undetected genetic variations. The QIAseq panels are incorporated into highly integrated Sample to Insight workflows, which include cloud-based bioinformatics for advanced data analysis and interpretation. The Digital NGS-based QIAseq Products QIAGEN is launching in July 2016 include: QIAseq Targeted DNA Panels; QIAseq Targeted RNAscan Panels; QIAseq miRNA NGS Kits; and QIAseq Targeted RNAseq Kits. Press release.

Scripps’ Data Management Deployment

The Scripps Research Institute (TSRI) has deployed DDN’s end-to-end data management solutions, including high performance SFA7700X file storage automatically tiered to WOS object storage archive, to support fast analysis and cost-effective retention of research data produced by cryo-electron microscopy (Cryo-EM). Responsible for creating a “resolution revolution,” Cryo-EM enables scientists to create atomic-level, high-resolution 3D molecular models with unprecedented speed and accuracy. In order to accommodate the rapid capture, analysis, and long-term retention of this data, DDN end-to-end storage solutions were needed to provide the speed and capacity to manage the rapidly growing, highly valuable data. Press release.

Image Analysis Updates

Definiens has released its Tissue Studio 4.3 and Developer XD 2.6 software packages. The updated product suites provide scientists, clinicians, and researchers working in translational research and immuno-oncology with powerful, fast image analysis solutions that can easily be tailored to their specific needs, yielding the most accurate, quantitative answers to their questions and accelerating the discovery of meaningful results. The updated Tissue Studio includes enhanced functionality to meet the current and future quantification demands across the spectrum of drug discovery and development, from basic research to translational studies. The software provides quantitative assessment of immune cell subpopulations in tumor tissue sections, enabling improved understanding of disease and drug mechanisms in immune-oncology. Press release.

BaseHealth Canadian Partnership

BaseHealth and Canada-based Executive Health Centre have announced a partnership through which Executive Health Centre will leverage BaseHealth’s genomics-based predictive analytics to enhance their personalized wellness assessments and action plans. BaseHealth’s technology expands Executive Health Centre’s ability to construct predictive models sensitive to each patient’s genetic data. In quantifying an individual’s risk for chronic conditions, BaseHealth accounts for over 1500 genetic factors. BaseHealth’s assessments focus on preventable conditions and delivering insights that empower healthcare professionals to intervene when behavioral change is most effective: before patients fully develop chronic or life-threatening conditions. Press release.

Precision Medicine Funding Round

N-of-One has received $7 million in a Series B financing from Providence Ventures and Excel Venture Management. The financing will be used to expand the company’s R&D efforts to broaden its precision medicine clinical decision support solutions in oncology, providing physicians with a precise and scalable approach to matching patients to the most relevant treatments including clinical trials. N-of-One will also expand sales and marketing in the U.S. and strategic global markets. Press release.

New Breast Cancer Panel

Invitae Corporation is offering a new Breast Cancer STAT Panel of high-quality genetic testing designed for breast cancer patients whose providers need a fast turnaround time to guide treatment and management. The Breast Cancer STAT Panel includes seven genes with surgical and therapeutic relevance: BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, and TP53. Mutations in these seven genes have been shown to increase a patient’s risk of breast cancer significantly and may influence the patient and physician choice between mastectomy and lumpectomy, whether to perform prophylactic salpingo-oophorectomy, and may inform choice of chemotherapy, including PARP inhibitors. Testing is available for blood and saliva samples, and results are available within 8-12 calendar days. Press release.

Zika Emergency Use Authorization

The U.S. Food and Drug Administration (FDA) has granted Siemens Healthcare Diagnostics an Emergency Use Authorization for its real-time PCR Zika Virus assay, the VERSANT Zika RNA 1.0 Assay (kPCR) Kit. The Kit is capable of detecting the presence of Zika virus, which can be an earlier indicator of Zika virus infection than anti-Zika antibodies. The molecular test is validated for plasma, serum, and urine (collected alongside a patient-matched serum or plasma specimen) from individuals meeting CDC Zika virus clinical criteria and/or CDC Zika virus epidemiological criteria, and is designed to run on the Siemens VERSANT kPCR Sample Prep automated platform, along with several commercially available thermal cyclers. FDA Emergency Use Authorization

Pharma Adherence Software

Medisafe has launched Medisafe for Pharma, a bundle of services into a software license that helps pharmaceutical companies increase adherence to their medications while gaining actionable de-identified insights generated by complex self-learning algorithms analyzing billions of user engagement data points Medisafe has collected to date. Medisafe for Pharma enables pharmaceutical companies to: improve adherence from industry averages; co-brand and customize the Medisafe interface for their patients; target and engage patients with educational content (e.g. videos, articles), patient assistance programs (e.g. copay cards), telecare services and other resources into the Medisafe "feed"; monitor ongoing adherence showing demographic trends, cohort-level insights, competitive benchmarking, etc.; automatically populate complex dosing schedules into the app; collaborate with Medisafe on patient recruitment; and offer prescribers a provider-patient care management interface. Press release.

Value-Based-Care Software Transitions

Zimmer Biomet Holdings, Inc. has launched Signature Solutions, a comprehensive suite of clinical services and technologies designed to assist hospitals and medical practices to seamlessly transition to value-based healthcare models by maintaining excellent patient outcomes, while maximizing procedural and cost efficiencies across the entire episode of care. The core components of Signature Solutions will include patient engagement tools designed to educate patients about the procedure and treatment options, facilitate physician-patient communication, and increase patient adherence to pre-op, intra-op and post-op/rehab protocols; a data mining and analysis platform that enables hospitals to collect critical patient-reported outcomes data; and expert consulting services. Press Release