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APR 22, 2021 6:00 AM PDT

Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?

Sponsored by: QIAGEN
C.E. Credits: P.A.C.E. CE Florida CE
Speakers
  • VP, Marketing & Clinical Product Mgmt, Digital Insights
    Biography

      Dr. Dominic John is the VP of Clinical Product Management and Marketing at QIAGEN. Dominic is responsible for overseeing the QIAGEN Digital Insights marketing programs and Clinical Products that have been used in genomic profiling of over 2M patient cases worldwide for oncology and hereditary disease diagnosis.  Dominic has spent over 20 years researching, developing and delivering leading cheminformatics and bioinformatics software to push the boundaries of science from bench to bedside applications. Driven by scientific curiosity, Dominic brings a range of experience from lab informatics, automation, simulation, data science and clinical decision support software. Dominic possesses a master in Toxicology, Ph.D. in Biochemistry and a carried out a Post Doctorate in Genomics.

    • Head of COSMIC, Wellcome Sanger Institute, Cambridge, UK
      Biography

        I lead the development of the COSMIC database (https://cancer.sanger.ac.uk), which describes millions of somatic mutations across every form of human cancer. Combining genetic research experience in Immunology at Cambridge University and Oncology at Imperial College London with Computer Science at Manchester University, I have an in-depth understanding of how genetic variants impact human phenotypes, and the knowledge of how to deploy bioinformatic solutions in precision medicine. We started COSMIC over 20 years ago as the explosion in recorded cancer genes was only just beginning; we focused on modelling both genotypic and phenotypic annotations at high resolution and this has proved essential to our broad usefulness. Ever since, our expert postdoctoral curators have been gathering ever-greater quantities of data across every mechanism of mutation that drives cancer. By ensuring resolution and precision of this information, described using the best most accessible standards, COSMIC is now a key global resource in precision oncology.

      • Director - Content Engineering, QDI
        Biography

          Dr. Shawn Bauer is the Director of Content Engineering at QIAGEN Digital Insights (QDI) and is responsible for scientific and bioinformatic content modeling and processing within QDI which support QIAGEN Digital Insight – Interpret (QCI-I), OmicSoftSuite, and Ingenuity Pathway Analysis (IPA). Prior to joining QIAGEN Dr. Bauer worked in drug discovery as Director of Medicinal Chemistry at Portola Pharmaceuticals where he worked on a variety of small molecule drug targets, the most recent of which led to the discovery of cerdulatinib which is currently in clinical development for leukemia and lymphoma. Dr. Bauer earned his Ph.D. in Organic Chemistry from University of California, Los Angeles.

        • Associate Staff Field Applications Scientist/Scientific Liaison
          Biography

            Dr. Lisa Barrow-Laing has over 15 year of experience in the areas of oncology, rare disease and virology.  Currently, Dr. Barrow-Laing serves as a Scientific Liaison frequently delivering workshops, trainings and product demonstrations on QIAGEN's bioinformatics offerings to oncologists, molecular pathologists, genetic counselors and other lab personnel. She assists customers with identifying the best secondary and tertiary analysis solutions to support various tests, including hereditary cancer panel and clinical exome testing. Prior to joining QIAGEN, Dr. Barrow-Laing was a Biomedical Informatics Scientist at Illumina and led clinical guideline curation projects for the Genomics England 100,000 Genome Project and clinical trial curation efforts for the ASCO TAPUR Study to identify biomarkers associated with drug sensitivity and drug resistance. She also interpreted variants and generated patient reports for pediatric patients with rare disease and cancer patients at the Illumina Clinical laboratory and N-of-One, respectively . She pursued her post-doctoral training at Brigham and Women's Hospital/Harvard Medical School and earned her Ph.D. at The Indiana University School of Medicine. 


          Abstract

          As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation and classification of variants is greater than ever.   However, for researchers and clinicians, it is next to impossible to keep up with published findings and archive them in a structured manner that makes them accessible and, therefore, often must rely on external databases. It is absolutely crucial to choose a trustworthy knowledgebase with the depth and breadth necessary to get the right answers.   But what criteria should we use to decide which database to trust to give you the right answer to your question? In this Mastermind session, we will explore possible answers to those questions and what the gold standard is for powering the precision in “precision medicine”.

          Learning Objectives:

          1. How curated information can be used to support precision medicine

          2. The different approaches to curating information for clinical decision support

          3. What to look for if you are looking for sources of information to support precision 


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