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What to do about VUS? How family variant testing can resolve those variants of uncertain significance

From the 2021 Joint Annual Meeting (recorded 6/29/2021)
Presented by Rachel Lewis, MS, MB(ASCP)

The interpretation of VUS (Variant of Uncertain Significance) can be a frustrating clinical result. When you’ve exhausted all of the published resources looking for evidence to move the interpretation towards pathogenic or benign, what additional data can aid in the interpretation process? Family variant testing! This talk focuses on different scenarios that may be encountered when performing family variant testing on how these scenarios can lead you to update your interpretation to pathogenic or benign. We will also review considerations that need to be made for penetrance, associated condition age of onset, and inheritance patterns.

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

  • Summarize what an interpretation of 'variant of uncertain significance means'
  • Identify how family variant testing can update an interpretation to pathogenic or benign.
  • Identify genetics concepts that need to be considered when integrating family variant testing results into your variant interpretation.

ASCLS is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program. One (1) P.A.C.E. ® contact hour and one (1) Florida credit hour in the area of General (Molecular Pathology) 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 Advanced-level program is appropriate for laboratory professionals working in clinical, public health and academic settings.