Challenges in Variant Science: Experiences from the Perspective of the Variant Scientist
20 Mar 2025
Meeting Room:
Petree Hall D
Laboratory Genetics and Genomics
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Accredited:
- Accredited
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Primary Categories:
- Laboratory Genetics
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Secondary Categories:
- Laboratory Genetics
Variant Scientists play a crucial role in genomic medicine and their contributions to patient care are becoming increasingly acknowledged. The duties and responsibilities performed by Variant Scientists are broad and extend well beyond variant analysis and interpretation. At the 2024 ACMG Annual Meeting in Toronto, we led a session aimed at increasing the visibility of Variant Scientists, highlighting the contributions of this clinical laboratory workforce, and demonstrating their diverse functions and roles. The session drew significant attendance, and it received positive feedback. Since then, more than one-hundred Variant Scientists have requested to be a part of the Variant Scientist Interest Group hosted by Washington University in St. Louis. This highlights an important and unmet need to foster collaboration and knowledge/experience exchange among Variant Scientists and to empower them to make meaningful contributions to precision medicine.
This session aims to build on previous initiatives and momentum to increase Variant Scientist visibility while highlighting their involvement with specific aspects of the genomics workflows. Key topics to be addressed in this session include the daily challenges faced by Variant Scientists such as shared decision-making regarding variant result return, collaborating with ordering providers to optimize genomic analysis, and navigating the challenges with somatic and germline variant technical review and interpretation. Session attendees, especially Variant Scientists or individuals interested in Variant Science, will have the opportunity to learn from the experiences of their colleagues, acquire an appreciation for the daily challenges faced by Variant Scientists, and importantly to recognize critical considerations in genomic data analysis in clinical settings. All speakers in this session currently work as Variant Scientists - or spend much of their time performing variant analysis and interpretation - and represent a diverse cohort of individuals that bring different experiences and perspectives to the session.
This session aims to build on previous initiatives and momentum to increase Variant Scientist visibility while highlighting their involvement with specific aspects of the genomics workflows. Key topics to be addressed in this session include the daily challenges faced by Variant Scientists such as shared decision-making regarding variant result return, collaborating with ordering providers to optimize genomic analysis, and navigating the challenges with somatic and germline variant technical review and interpretation. Session attendees, especially Variant Scientists or individuals interested in Variant Science, will have the opportunity to learn from the experiences of their colleagues, acquire an appreciation for the daily challenges faced by Variant Scientists, and importantly to recognize critical considerations in genomic data analysis in clinical settings. All speakers in this session currently work as Variant Scientists - or spend much of their time performing variant analysis and interpretation - and represent a diverse cohort of individuals that bring different experiences and perspectives to the session.
Learning Objectives
- Evaluate the clinical ramifications and ethical complexities associated with genomic results return
- Elucidate key concepts and troubleshooting techniques for accurate interpretation and reporting in complex cancer cases
- Demonstrate the complexities associated with CNV interpretation and their effects on consistent reporting practices
- Identify the predominant reasons for conflicting variant interpretations in ClinVar and their clinical implications
Agenda
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The Daily Dilemma: To Return or Not Return?4:00 PM – 4:12 PM -
Challenges in Somatic Variant Interpretation4:12 PM – 4:24 PM -
Challenges in Copy Number Variant Interpretation4:24 PM – 4:36 PM -
Panel DiscussionPanel Discussion and Q&A4:48 PM – 5:00 PM
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