Clinical OMICS

NOV-DEC 2017

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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32 Clinical OMICs November/December 2017 Data & Informatics Phosphorus Launches Genetic Testing SaaS Platform Computational genomics company Phosphorus launched its Elements soft- ware suite, a software -as-a-solution (SaaS) platform designed to enable diag- nostic genetic testing for laboratories, hospital networks, and other healthcare users. "Implementation of a Precision Medi- cine strategy is still a huge challenge for most hospitals and health systems," Alex- ander Bisignano, Phosphorus cofounder and CEO, said in a statement. "A strong genomics core at the center of any strat- egy is really important, and with our Ele- ments software, the challenges and costs of bringing clinical testing in-house are significantly reduced." The Elements platform consists of six distinct modules—one each for manag- ing logistics, accessioning, lab tracking, bioinformatics, variant curation, and reporting. The suite is part of Phospho- rus' broader in-house testing partnership, which includes predesigned sequencing assays, reimbursement consulting, and operational assistance. According to Phosphorus, Elements features full HIPAA compliance, scalability, security, intuitive dashboards, and highly customizable algorithms, forms, and workflows. n Qiagen, Centogene Launch Rare Disease Bioinformatics Partnership Centogene's CentoMD rare disease variant database will be integrated into Qia- gen's bioinformatics suite through a collaboration designed to combine sam- ple-to-insight research and clinical testing solutions in rare genetic diseases. Under the collaboration, CentoMD will be added to the Qiagen Knowledge Base and Qiagen Clinical Insight bioinformatics solution. Qiagen will serve as the exclusive global commercial distribution partner of CentoMD, while Centogene will license Qiagen's bioinformatics solutions to support Centogene's rare disease diagnostic testing services. The companies will also work together to develop advanced machine-learning methods to improve clinical prediction, and will continue to share data through the Allele Frequency Community (AFC), a freely accessible "opt-in" community resource that facilitates sharing of anonymized, pooled alelle frequency statistics. Sean Scott, Qiagen SVP, chief business officer, clinical market development, said the companies have discussed opportunities that include more complete sample to insight workflow solutions, improved evidence coverage and interpretation support in rare disease, a set of clinically annotated sequencing data, rare disease panel design/kits, simpler "push-button" diagnostics decision support solutions, and national genome program support where rare disease is priority. He said the collaboration's primary objectives and expected benefits to end customers included: Biomarker discovery in rare disease; improved genotype to phenotype associations and higher quality annotation and interpretation capabil- ities; increased molecular diagnostics yield in rare disease genetic testing; more insightful/actionable reporting to ordering physicians and patients; and oppor- tunity for rare disease patient identification and trial matching and enrollment. "Qiagen and Centogene are exploring how to best leverage Centogene's large and ethnically diverse compendium of sequencing data and Qiagen's biomedi- cal knowledge base, AFC and bioinformatics and analytics expertise to develop improved computational based approaches to research discovery and clinical interpretation," Scott added. Qiagen is one of 18 institutions and companies listed as co-founders of AFC, to which more than 300,000 samples have been contributed. These include rare disease/ ethnically diverse alleles from more than 110 countries contributed by Centogene. According to Centogene, CentoMD provides more than 130,000 curated cases with genotype phenotype information in rare diseases. "Roughly 55% of the variants that have been included are not present in any other public database. The broader access to CentoMD via Qiagen's bioinformat- ics services helps clinicians to better interpret sequencing results in patients with rare diseases," Centogene CSO Peter Bauer, M.D., said. "As for researchers and pharma customers, CentoMD also provides features for reverse phenotyping (phenotype to genotype searches) which enables drug tar- get or pathway analysis with links to real patients with real biomaterials," Bauer added.—Alex Philippidis

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