Classification Investigation - Examining Pathogenicity of DMD Variants Detected on Carrier Screening
Tuesday, October 15, 2024| 2:00pm-3:00pm ET
Description:
Join us for an insightful panel on carrier screening for Duchenne Muscular Dystrophy (DMD) and its implications for reproductive decisions. Expert speakers from Baylor College of Medicine and Parent Project Muscular Dystrophy, including Ms. Blake Vuocolo, MS, CGC, Mrs. Kayla Banks, MS, CGC and Ms. Sandra Darilek, MS, CGC will explore the latest DMD genotype research, trends in variant pathogenicity, and real-world cases. Don’t miss this essential session!
Target Audience: The target audience for this session is all genetic healthcare providers, researchers, and students at all levels of training. This session will especially appeal to genetics providers who practice prenatal and reproductive genetics medicine. Genetic counselors will benefit from the psychosocial aspects of discrepant carrier screen results. Additionally, this topic will be of interest to OBGYNs, MFMs, and other health care professionals that order or interpret carrier screening for their patients.
Agenda: Presentation followed by live Q&A.
Topic
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Presentation
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Presenter
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Welcome and Introduction
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Blake Vuocolo, MS, CGC
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Case study highlighting unexpected Duchenne Muscular Dystrophy carrier screening results.
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Navigating the Unexpected: Perspectives of carrier screening results from a personal and professional lens
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Blake Vuocolo, MS, CGC
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Discussion of findings from The Duchenne Registry and cases identified through a sponsored genetic testing program
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The spectrum of dystrophinopathies – What we know, and what we are still learning
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Kayla Banks, MS, CGC
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Current carrier screening practices, implications of carrier screening results and nuances of carrier screening
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When did this become complicated?
An overview of current carrier screening
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Sandra Darilek, MS, CGC
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Practice implications for DMD testing
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Where do we go from here? Practice recommendations for DMD carrier screening
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Blake Vuocolo, MS, CGC
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Learning Objectives
At the conclusion of this session, participants should be able to:
- Describe the current knowledge of Duchenne Muscular Dystrophy and common variants.
- Discuss PPMD’s registry and testing program, highlighting cases of familial testing with unexpected results.
- Review carrier screening practices and implications of carrier screen results in reproductive genetics
- Describe the emotional aspects of decision-making based on carrier screen results.