Exploring Variant Classification and Future Directions Webinar Series: Webinar 2- The Future of Variants of Uncertain Significance (VUS)

This is the second webinar in the Exploring Variant Classification and Future Directions Webinar Series, hosted by the APHL Molecular Subcommittee and NewSTEPs New Disorder Subcommittee. The webinar series provided an overview of the interpretation, classification, and management of genetic variants of uncertain significance (VUS) identified and reported by the newborn screening (NBS) program. This series also highlighted long-anticipated changes in the variant interpretation process and introduced novel strategies for addressing VUS.

Objectives: 

The second webinar covered the following objectives:

• Explore proposed upcoming changes to the variant interpretation process
• Review the available software and platform options for variant classification in NBS that use Artificial Intelligence (AI)
• Describe novel strategies to predicting variants pathogenicity based on functional studies using MLD as an example

Moderator:

• Carrie Wolf, MBS, Interim Manager, Laboratory Supervisor, Minnesota Department of Health

Speakers:

• Steven Harrison, PhD, FACMG, Laboratory Director, Ambry Genetics
• Michael Gelb, PhD, Professor, University of Washington

This event is supported by the Health Resources and Services Administration (HRSA) under Cooperative Agreement #U22MC24078 for $2,300,000. This content is those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS, or the US Government.

This communication is supported by Cooperative Agreement #5NU60OE000103 funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the CDC or the Department of Health and Human Services.