Exploring Variant Classification and Future Directions Webinar Series: Webinar 1- Variant Classification 101

This is the first webinar in the Exploring Variant Classification and Future Directions Webinar Series, hosted by the APHL Molecular Subcommittee and the NewSTEPs New Disorders 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 first webinar covered the following objectives:

• Explore the factors involved in variant classification
• Define what a Variant of Uncertain Significance is and describe how this classification happens
• Discuss how NBS programs report VUS findings
• Explain how to make recommendations for follow-up
• Describe how ED3N can be used to interpret and classify variants

Moderator:

• George Dizikes, PhD, HCLD/CC (ABB), clinical consultant, Illinois Department of Public Health

Speakers:

• Anne Comeau, PhD, deputy director, New England Newborn Screening Program, Professor of Pediatrics, UMASS Chan Medical School
• Amy M. Gaviglio, MS, CGC, genetics and public health consultant, Connetics Consulting
• Denise M. Kay, PhD, research scientist, Newborn Screening Program, Wadsworth Center, New York State Department of Health