Wendy Chung, M.D. Ph.D., Associate Professor of Pediatrics and Medicine, Columbia University and Chief Scientific Officer, GeneDx, will participate in the session entitled PERSONALIZED DIAGNOSTICS, WHOLE EXOME SEQUENCING AS A DIAGNOSTIC TOOL. Dr. Chung’s presentation, entitled The Future Use of Exome Sequencing as the Genetic Test of Choice for Clinical Diagnostics, will take place on Monday, March 7th at 3:10 PM PST.
In her talk, Dr. Chung will review the experience of using whole exome sequencing in clinical diagnostics for a wide range of genetic conditions including technical improvements of the test over time, the clinical yield of testing by indications, and the clinical utility in testing for patient care both in the present and in the future regarding how the test is likely to be used as a first line clinical test for all heritable conditions.
Robert D. Daber, Ph.D., Vice President of Genomic Operations and Cancer Genetics at GeneDx will be chairing both the GENOMIC SAMPLE PREP AND BIOMARKER ASSAY DEVELOPMENT, EMERGING SAMPLE PREP TECHNOLOGIES FOR GENOMICS APPLICATIONS and NOVEL CANCER BIOMARKER FFPE-BASED ASSAYS sessions on Monday, March 7th.
Dr. Daber will also be presenting two talks. His first presentation, in the EMERGING SAMPLE PREP TECHNOLOGIES FOR GENOMICS APPLICATIONS session and entitled Eliminating Barriers to Precision Diagnostics: Cost, Content, Turn-Around Time and Sample Size, will take place on Monday, March 7th at 12:00 PM PST.
In his talk, Dr. Daber will discuss the potential NGS has for disrupting routine clinical practice in many areas of medicine and the challenges that have to be addressed to see that potential fulfilled. As many health care practices look to build precision medicine programs, access to clinical NGS testing for every patient is currently limited by several challenges – including assays cost, turnaround time, test sensitivity and actionable reporting of variants.
Dr. Daber’s second talk, in the CELL-FREE DNA AND RNA ASSAYS session, entitled Best Practices for Fusion Detection by Targeted RNA Sequencing: Pre-Analytical Considerations, Assay Validation and More, will occur on Wednesday, March 9th at 3:00PM PST.
In this talk, Dr. Daber will discuss the challenges and benefits of NGS based targeted RNA sequencing in the detection of gene fusion events, including nucleic acid isolation, sample preparation and downstream data processing.
Andreas Matern, Vice President Collaborations and Innovation, GeneDx, will be chairing a panel discussion in the TRANSLATIONAL RESEARCH session entitled Inspiring Others to Innovate with Technology on Tuesday, March 8th at 3:10PM PST, and presenting in the INTEGRATED INFORMATICS DRIVING TRANSLATIONAL RESEARCH & PRECISION MEDICINE, CONVERGENCE OF LARGE POPULATION & PERSONAL DATA FOR PATIENT CARE, CLINICAL TRIALS & R&D session.
Mr. Matern’s talk, entitled Innovation from the Clinical Laboratory – The New Role of -Omics-Based Testing and Decision Support, will take place on Wednesday, March 9th at 12:00PM PST.
In his talk, Mr. Matern will discuss how clinical laboratories are changing beyond the simple “send sample, give us results” paradigm to an information-driven ecosystem, working in close partnership with providers, pharmaceutical companies, and hospitals to leverage the knowledge they have accumulated to drive new medical discoveries and improve patient care and outcomes. The emphasis will be on bioinformatics, the combination of large data sets, and building systems that work across multiple stakeholders and groups.
About OPKO Health, Inc.:
OPKO Health, Inc. is a diversified healthcare company that seeks to establish industry-leading positions in large, rapidly growing markets. Our diagnostics business includes Bio-Reference Laboratories, the nation’s third-largest clinical laboratory with a core genetic testing business and a 420-person sales force to drive growth and leverage new products, including the 4Kscore® prostate cancer test and the Claros®1 in-office immunoassay platform. Our pharmaceutical business features Rayaldee™, a treatment for SHPT in stage 3-4 CKD patients with vitamin D insufficiency (March 29, 2016 PDUFA date) and VARUBI™ for chemotherapy-induced nausea and vomiting (oral formulation launched by partner Tesaro, IV formulation in Phase 3). Our biologics business includes hGH-CTP, a once-weekly human growth hormone injection (in Phase 3 and partnered with Pfizer), and a long-acting Factor VIIa drug for hemophilia (entering Phase 2a). We also have production and distribution assets worldwide, multiple strategic investments and an active business development strategy. More information is available at www.opko.com.
GeneDx is a world leader in Genomics with an acknowledged expertise in rare and ultra rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx provides testing to patients and their families in more than 55 countries. To learn more, please visit www.genedx.com.
Source: OPKO Health, Inc.
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