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Focus on Advanced Molecular Diagnostics

From the 2023 Joint Annual Meeting (recorded 6/29/2023)
Presented by J. Dianne Keen-Kim, PhD, FACMG, HCLD, and Denise Kramer, MS, MLS(ASCP)

Featuring two 30-minute sessions:
Assessment of Automated Variant Interpretation
Automated variant classification systems are widely used, but little is known about how they perform clinically. This session will review a study evaluating a fully automated system using >110K unique carrier screening variants compared to ClinVar high-confidence calls.
CRISPR-Cas Diagnostics in the Clinical Lab
This session will review how CRISPR-Cas systems have the potential to augment or even replace current molecular biology assays for the detection of microbes.

At the conclusion of this presentation, participants will be able to:

  • Recall and review the components, application, and clinical impact of genetic variant classification in the medical laboratory. Define and analyze the critical differences between manual and automated variant classification. Compare the pros and cons of a
  • Define CRISPR and the systems previous applications. Summarize how CRISPR-Cas systems are used as molecular assays. Identify ways that CRISPR-Cas molecular assays can be utilized in the future.

ASCLS is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program. One-half (0.5) P.A.C.E. ® contact hour in the area of CMB will be awarded to participants. ASCLS P.A.C.E.® is accepted by the ASCP/ASCLS/AGT Board of Certification and all states, including Florida and California, as an approved provider of continuing education for recertification and licensure. ASCLS is an approved provider with CE Broker for Florida licensees.

This Intermediate-level program is appropriate for laboratory professionals working in clinical, public health and academic settings.