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Flex Analysis: A Safe, Integrated and Flexible Approach to Non-Invasive Aneuploidy Analysis

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Head of Bioinformatics & Software, Yourgene Health
    Biography

      Dr. Matthew Forman is Head of Bioinformatics & Software at Yourgene Health,  an international molecular diagnostics group which develops, manufactures, and commercialises simple and accurate molecular diagnostic solutions, for reproductive health, precision medicine and infectious diseases. The Group's flagship products include non-invasive prenatal tests (NIPT) for Down's Syndrome and other genetic disorders, Cystic Fibrosis screening tests, invasive rapid aneuploidy tests, and a recent extension into the oncology space with DPYD genotyping.



      Dr. Forman joined Yourgene Health in 2013 and initially led the development of a complete turnkey solution to NGS data analysis and clinical reporting for NIPT, developed according to stringent IVD software process standards. He and his team have substantial experience of the end-to-end development of bioinformatic, biomedical and technical software systems. This begins with the design of novel bioinformatic data processing algorithms applying statistical modelling and machine learning techniques, and then manages the medical device software development lifecycle through to integration and formal testing of software modules, and finally to validation and regulatory approval of complete IVD software products.



      Dr. Forman has held senior positions in research and commercial development of algorithms and software systems for medical visualisation, ultrasound and electrical impedance tomography at De Montfort University, Create3D and WZVI Ltd, developing a thorough appreciation of the statistical nature of real world genetic and biomedical data together with practical knowledge of software development methods, hardware, operating system and laboratory systems integration. He holds a B.Eng (hons) in Electronic Engineering and a Ph.D in the field of three-dimensional image processing and compression.


    Abstract

    NGS Bioinformatics software has come of age. Our workflows need software solutions that don’t only carry out the correct calculations to give the correct results reliably and unambiguously, but that are architected and designed with safety, confidentiality and usability as key principles throughout. Real-world software must be able to integrate cleanly and reliably with laboratory and clinical systems, and also be able to scale with users’ needs. In this presentation, we review the role of software in NIPT and related NGS test workflows, and consider how it can be built to create turnkey solutions for analysis and sample and clinical test data management that integrate seamlessly with test workflows.

    Learning Objectives:

    1. Understand the roles of software in sequencing-based test workflows.

    2. Describe the foundation user needs that software in sequencing-based workflows must meet, and explain the importance of each.

    3. Give examples of how the key software user needs might be met in a real-world example of a test workflow, such as for non-invasive aneuploidy testing.


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