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Conference Program

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Variant Scientists in Genomic Medicine

16 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 717 AB
Laboratory Genetics & Genomics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Laboratory Genetics
  • Secondary Categories:
    • Laboratory Genetics
  • Level of Learner:
    • Intermediate
Use of next generation sequencing has grown due to high clinical utility and decreasing costs, leading to increased demand by patients and clinical genetics providers. As more patients and study participants receive genomics sequencing testing through clinical genetics care, or via participation in clinical translational research studies, the need for manual curation and interpretation of genetic variation has sharply increased. This has resulted in the development (with needed sustainment/growth) of a specialized genetics workforce with the ability to perform comprehensive next generation sequencing analysis. This workforce, termed Variant Scientists (also often referred to as Biocurators), is integral to both genomic medicine and translational research efforts (Giles et al., 2021, PMID: 33900788).
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The overarching goal of this scientific session is to highlight the importance of Variant Scientists to genomic medicine and increase the visibility of the Variant Scientist as a career option. The speakers included in this session all work as, or work closely with, Variant Scientists. Their selected presentation topics will examine the role of the Variant Scientist in genomic medicine, discuss existing training programs and career paths, introduce/review tools and resources necessary for optimal analytical performance, and describe the diverse laboratory activities that require the Variant Scientist skillset. This session will be comprised of a one-minute topic introduction by the moderator, followed by a fifteen-minute presentation from each of the five speakers. The remaining fifteen minutes of the session will be used for questions and follow-up discussion.
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Learning Objectives

  1. Describe the role of the Variant Scientist in genomic medicine
  2. Explain how an individual might pursue a career as a Variant Scientist
  3. Distinguish paths to becoming a Variant Scientist; informal training practices versus formal training programs
  4. Demonstrate analytical tools and resources that streamline and optimize genomic analysis
  5. Recognize that the roles of Variant Scientists in laboratory genomics are diverse