October 22 - Variant Classification for Disorders of Somatic Mosaicism

Availability

Registration ends on October 22, 2024

Expires on 11/22/2024

Online Meeting

Oct 22, 2024 11:00 AM - 12:00 PM EST

Cost

$0.00

Credit Offered

1 CME (AMA) Credit

1 CME (Other) Credit

Title: Variant Classification for Disorders of Somatic Mosaicism

Tuesday, October 22, 2024

11:00am-12:00pm ET

Description

Post-zygotic genomic variation causes clinical disorders beyond malignancies. Clinical laboratory testing providing sensitive detection and accurate interpretation of such variants is critical in establishing molecular diagnoses that can be the first step toward utilization of targeted therapies. Classification frameworks developed for germline variation and for somatic variants in cancer each have limited applicability to somatic variants in Disorders of Somatic Mosaicism (DoSM). Our laboratory has leveraged extensive experience in testing for these conditions to develop modified classification criteria tailored for somatic variants observed in this context. This session will review the clinical patterns and significance of mosaic variants in DoSM and share our laboratory’s approach to variant classification. Three cases from our laboratory will be presented to illustrate key aspects of these variant classification specifications.

Target Audience

All medical and healthcare professionals and researchers interested in understanding cancer genomic testing and somatic and germline variant interpretation methods. This series is presented as a collaboration between ClinGen Somatic, VICC, and ACMG consortia.

Agenda

Presentation followed by live Q&A.

Learning Objectives

At the conclusion of this session, participants should be able to:

1. Explain the role of somatic variants in clinical conditions beyond cancer

2. Describe the challenges of applying variant classification frameworks intended for germline or cancer variation in the setting of Disorders of Somatic Mosaicism.

3. Discuss the importance of accurate genomic testing and variant classification for Disorders of Somatic Mosaicism.

Moderator

Jason Saliba, PhD

Instructor

ClinGen Somatic Clinical Domain Working Group Coordinator

Department of Oncology

Washington University School of Medicine, St. Louis, MO

Presenters

Molly Schroeder, PhD, FACMG

Medical Director, Clinical Genomics Laboratory

Division of Genomic and Molecular Pathology

Washington University School of Medicine in St. Louis

Dr. Molly Schroeder, PhD, FACMG, is a clinical laboratory geneticist. Dr. Schroeder completed her doctorate at Baylor College of Medicine, followed by fellowships in clinical molecular genetics and cytogenetics at Case Western Reserve University. She then joined the Clinical Services Laboratory at HudsonAlpha Institute for Biotechnology as a laboratory director, overseeing one of the first labs offering clinical constitutional genome sequencing. In 2018, Dr. Schroeder joined the faculty of Washington University School of Medicine in St. Louis’s Department of Pathology and Immunology, where she is now an associate professor and Associate Director of the Division of Genomic and Molecular Pathology.

Yang Cao, PhD, FACMG

Associate Professor, Pathology and Immunology

Division of Genomic and Molecular Pathology

Washington University School of Medicine in St. Louis

Dr. Yang Cao, PhD, FACMG, is a clinical laboratory geneticist. After completing her PhD training in Genetics at the University of Wisconsin-Madison, she went to the Mayo Clinic for ABMGG fellowships in both Clinical Cytogenetics and Clinical Molecular Genetics. Dr. Cao is board-certified in ABMGG Clinical Cytogenetics and Clinical Molecular Genetics, and in 2017 joined the Department of Pathology and Immunology at Washington University School of Medicine in St. Louis as an Associate Medical Director of the Clinical Genomics Laboratory. Her clinical interests include new assay development and implementation as well as convergence and integration of a variety of methodologies into the next generation of clinical laboratory genomics.

Kevin Bowling, PhD

Associate Professor, Pathology and Immunology

Division of Genomic and Molecular Pathology

Washington University School of Medicine in St. Louis

Dr. Kevin Bowling, PhD is a laboratory geneticist whose research focuses on using state of the art genomic technologies to diagnose rare disease in hopes of improving patient management and outcomes. He holds a PhD in Molecular Biology from the University of Alabama (2008) and completed postdoctoral training in human genetics at the HudsonAlpha Institute for Biotechnology (2009-2013). Following postdoctoral training, Dr. Bowling worked as a Senior Scientist at HudsonAlpha (2013-2021) and in 2022 joined the Department of Pathology and Immunology at Washington University School of Medicine in St. Louis as an Associate Professor.

Alexa Dickson, PhD

Senior Clinical Variant Scientist, Clinical Genomics Laboratory

Division of Genomic and Molecular Pathology

Washington University School of Medicine in St. Louis

Dr. Alexa Dickson, MB(ASCP)^CM, CMQ, is a highly experienced Clinical Variant Scientist with more than a decade of expertise in gene-disease curation and clinical DNA variant classification. Currently, she is the Senior Clinical Variant Scientist at Washington University in St. Louis School of Medicine, where she oversees the training of clinical variant scientists and leads the team. Dr. Dickson actively participates in ClinGen and serves on the ClinGen SVI Review Committee. Additionally, she contributes to several panels within the ClinGen Inborn Errors of Metabolism Clinical Domain Working Group, specializing in the ACADVL, Peroxisomal Disorders, and Galactosemia Variant Curation Expert Panels.

Planning Committee:

Beth Pitel, MS, CG(ASCP)

Gordana Raca, MD, PhD, FACMG

Manuela Benary, PhD

Jason Saliba, PhD

Jane Radford, MHA, CHCP

Claudia Barnett

Continuing Medical Education (CME AMA & CME Other)

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation

The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days of the date of the activity. Educational credit requests after this date will not be accepted.

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.