Webinar - Vignettes of Vanquishing Vexing Variants

On-Demand Webinar:

As next generation genetic sequencing of pediatric hematology and oncology patients has expanded, we have seen an increase in germline variants that aid in diagnosis and treatment. On the other hand, due to limited information surrounding variants, especially those affecting newly identified disease genes, clinicians are bombarded by a number of variants of uncertain significance (VUS). As we have come to appreciate the phenotypic variation of many genetic conditions, the interpretation of germline VUS presents a challenge. Lack of access to genetic services creates additional barriers in the interpretation of genetic results. Pediatric hematology-oncology physicians must know how to consider a VUS when managing patients. They must develop a foundation of knowledge regarding tools that can be utilized when considering whether a VUS is potentially an actionable variant. A webinar focused on best practices with examples of how to use public gene variation and disease-specific databases, in-silico predictive tools, and literature, in evaluating germline VUS is vital. The ability to answer questions such as allele frequency, the location of the VUS relative to splice junctions and function of the encoded protein, whether or not the involved amino acid is conserved, are first steps to understanding the meaning of a VUS.

Learning Objectives:

• Discuss specific examples of how germline variants of uncertain significance (VUS) are of potential importance in diagnosis and management of pediatric hematology / oncology patients.

• Discuss practical approaches and resources that can be leveraged in the interpretation of VUS (e.g., familial segregation, location of VUS, potential functional impact of VUS).

• Case-based (e.g., inherited bone marrow failure, myelodysplasia, cancer) discussion providing practical examples of available resources that can be leveraged in the interpretation of VUS.

Speakers:

• Melissa Rose, DO (moderator)
• Harry (Adrian) Lesmana, MD
• Elizabeth Varga MS, LGC

The webinar features a lecture presentation followed by recorded Q/A. Registration includes on-demand access to the full recording.