MENU

Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Co-Founder and Managing Director, Limbus Medical Technologies
    Biography
      Dr. Ben Liesfeld is Co-Founder and Managing Director of Limbus Medical Technologies, a medical software company whose mission is to support and facilitate genetic diagnostics. A physicist by training, he co-invented computer guided laser surgery devices for ophthalmology. When accepting a position in a clinical laboratory in 2013 he learned about the huge potential and the challenges of diagnosing rare diseases using next-generation sequencing. This led him to create an independent enterprise to leverage software and real-world evidence in order to solve the puzzles of genetic diseases.

    Abstract

    The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide more complete answers to patients with rare diseases in turn has increased the interest of physicians in genetic testing. Clinical genetic testing today is generating more real world evidence than any large scale research sequencing project has or will ever have. However, this valuable real world evidence remains underutilized due to the lack of proper technology and due to legal obstacles. In practice WES generates large amounts of information that need to be processed and interpreted. If used in routine diagnostics, the data processing and the interpretation must be standardized, clinically validated and ultimately automated to a high degree. The hands-on time of creating a diagnosis must be a matter of minutes and not of days or weeks. Taking together the genotype and phenotype information from a large number of patients can improve the success rate in diagnostic testing significantly. Healthcare institutions address these challenges to a variable degree by creating and maintaining proprietary in-house software or by using a patchwork of third-party solutions. A single, streamlined solution for these challenges is varvis, a diagnostic software that covers the entire workflow from raw data to interpretation and reporting. Using varvis, diagnostic laboratories across Europe, Canada and the USA are aggregating and sharing real-world evidence and improving patient care in compliance with data privacy regulations. The aggregated database now contains information about 19,000,000 unique variants from 35,000 cases. I will present case examples how patients benefit from this knowledgebase and how it enables clinical labs to quickly scale up WES diagnostics.

    Learning Objectives:

    1. How Whole Exome Sequencing has matured to become a first-line diagnostic method in clinical genetics and what its benefit is for the patient

    2. Which tools and processes are necessary to successfully deploy this powerful method in routine diagnostics at scale

    3. How every data point from every single patient can be leveraged to continuously improve the quality and success of the diagnostic process.


    Show Resources
    You May Also Like
    MAY 11, 2021 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    MAY 11, 2021 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Date: May 11, 2021 Time: 10:00zm PDT Your samples are some of the most valuable assets in the laboratory. After spending countless hours on extraction and preparation, your conclusions could...
    JUN 09, 2021 7:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    JUN 09, 2021 7:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Date: June 9, 2021 Time: 09 June 2021, 7am PDT, 10am EDT, 4pm CEST cells with dramatic implications on the validity of past cell culture related research. The fact that at least 509 cell lin...
    DEC 02, 2020 8:00 AM PST
    C.E. CREDITS
    DEC 02, 2020 8:00 AM PST
    DATE: December 2nd, 2020 TIME: 08:00am PDT, 11:00pm EDT Bioreactors and shakers are used to cultivate microorganisms, plant, insect, and mammalian cells in different volumes. Upscaling of pr...
    NOV 16, 2020 8:00 AM PST
    C.E. CREDITS
    NOV 16, 2020 8:00 AM PST
    Date: November 16, 2020 Time: 8:00am (PST), 11:00am (EST) CRISPR screening has become the prime discovery tool in modern biomedical research and drug discovery. At the same time, most screen...
    NOV 10, 2020 7:00 AM PST
    C.E. CREDITS
    NOV 10, 2020 7:00 AM PST
    DATE: November 10, 2020 TIME: 7:00am PDT, 10:00am EDT Automation can provide tremendous benefits such as increased pipetting precision and accuracy, productivity, and throughput. Numerous wo...
    MAR 16, 2021 10:00 AM PDT
    C.E. CREDITS
    MAR 16, 2021 10:00 AM PDT
    Date: March 16, 2021 Time: 10:00am (PST) Scientific progress and breakthroughs today are often too expensive for most institutions to acquire. Each year, the National Institutes of Health (N...
    Loading Comments...
    Show Resources
    Attendees
    • See more