ACMG Education Workgroups-October 15 - Classification Investigation

October 15 - Classification Investigation

Pdf Summary

The Classification Investigation on the pathogenicity of DMD (Duchenne Muscular Dystrophy) variants focused on enhancing the understanding of genetic variant interpretation and counseling, especially in carrier screening without a family history. Participants gained insights into the unpredictable nature of "pathogenic" DMD variants and the variability in their phenotypic expression, which sometimes appears in healthy individuals. The significance of accurate variant classification, follow-up testing, and the emotional and clinical implications for patients and families were key themes. The survey suggested that the educational activity improved participants' ability to apply this knowledge in genetic counseling, carrier screening, and variant interpretation practices. Many highlighted the importance of considering family history and cultural context in genetic counseling, using this education to refine their approaches, including premarital screenings, and for enhancing patient outcomes through personalized care and data-driven decision-making.<br /><br />The feedback was largely positive, with participants praising the informative course structure, engaging presentations, and relevant content. Real-life case examples and a multi-faceted educational approach were appreciated, though suggestions were made for more real-life examples and greater detail on certain topics like non-penetrant males and carrier screening utility. The presentation was deemed free of commercial bias with complete disclosure of speaker financial relationships. The event was well-received, with a 65.25% of participants strongly agreeing that the content met their expectations.<br /><br />Most respondents felt the session was free from commercial bias, rating the presenters as knowledgeable and organized. Suggestions for future programs included more focus on performance or quality gaps and additional real-life case studies, evidencing continuous demand for similar educational activities.

Keywords

Duchenne Muscular Dystrophy

genetic counseling

variant interpretation

carrier screening

phenotypic expression

patient outcomes

family history

educational activity

personalized care

case studies