This session is designed to engage the molecular diagnostic community in a new initiative to improve alignment of the Human Genome Variation Society (HGVS) nomenclature system with laboratory and healthcare provider needs. This effort is driven by CAP’s Genomics Medicine Resource Committee. A brief overview of the history and current operations of HGVS will be provided and speakers will describe variability of the HGVS nomenclature system derived from proficiency testing data sources (Sanger sequencing and NGS challenges). These data clearly demonstrate a need for optimization and a controlled, standardized implementation across clinical laboratories as well as vendors/developers of variant annotation software. The main focus of this session is to collect interactive feedback from the audience on proposed improvements and strategic paths towards widespread global implementation.
Agenda
| Birgit Funke, PhD, FACMG |
Overview
|
| Johan Den Dunnen, PhD |
Historic Perspective and Overview of Current HGVS Operations |
| Ryan J. Schmidt, MD, PhD |
Defining the Variability in HGVS Nomenclature Usage in Practice: Results from CAP Proficiency Testing Responses |
| Somak Roy, MD |
Variant Annotation Software Demonstrate Variability in the HGVS Output |
| Panelists |
Walkthrough Improvement Options and Gather Interactive Audience Feedback |
Learning Objectives
At the conclusion of this session, participants should be able to:
- Review the current variability in the usage of HGVS nomenclature system among clinical laboratories.
- Recognize the variability in software tools which generate HGVS nomenclature.
- Discuss the need for a version-controlled and optimized HGVS nomenclature for clinical usage.
- Outline the CAP proficiency testing challenges (Sanger and NGS) with regard to HGVS nomenclature
- Explain potential challenges of health practitioners in understanding HGVS nomenclature
Presenters
Birgit Funke, PhD, FACMG
Associate Professor of Pathology (Part-Time), Harvard Medical School, Massachusetts General Hospital
Johan Den Dunnen, PhD
Leiden University Medical Center
Somak Roy, MD
Assistant Professor of Pathology, and Director of Molecular Informatics and genetics Services,
Division of Molecular and Genomic Pathology, University of Pittsburgh Medical Center (UPMC)
Ryan Schmidt, MD, PhD
Assistant Director of the Clinical Genomics Laboratory in the Center for Personalized Medicine,
Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles
Assistant Professor of Clinical Pathology, Keck School of Medicine of USC
Financial Disclosures
Johan Den Dunnen, PhD
Has no relevant financial relationships to disclose.
Birgit Funke, PhD, FACMG
Has no relevant financial relationships to disclose.
Somak Roy, MD
Dr. Roy has disclosed that he is a consultant for Roche Sequencing Solutions.
Ryan Schmidt, MD, PhD, MS
Has no relevant financial relationships to disclose.