Workshop: Teaching Variant Curation through Team-based, Active Learning Approaches

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Single nucleotide variant (SNV) curation is an important skill to develop for students in genetic counseling, genomics, and bioinformatics master’s programs. It is also a common subject for continuing education workshops for professionals working in clinical genetics roles. While the number of evidence categories and scoring criteria can be intimidating for new learners, the process lends itself well to team-based, active learning approaches in the classroom. This workshop will use the ACMG/AMP standards and guidelines for germline SNV interpretation as a case study for developing classroom activities that engage learners, develop variant analysis skills, and build confidence in the curation process for students. Throughout the workshop, participants will gain hands-on experience designing instructional activities for clinical genetics concepts, assessing the effectiveness of the activities, and constructing an instructional scaffold to guide learners to mastery of the curation process. Participants will also discuss the benefits of teaching in a team-based, active modality. While the workshop will focus on in-person educational formats, there will also be discussion of how to adapt the same activities to synchronous, online delivery and self-paced, solo learners.

 

Learning Objectives

  • Design team-based, active learning activities for teaching genetics concepts
  • Assess the effectiveness of active learning activities
  • Plan an educational approach to develop students' skills in SNV interpretation
  • Describe the benefits of team-based learning approaches for students

Barbara Kraatz Fortini, PhD

Keck Graduate Institute

Barbara Kraatz Fortini, Associate Professor of Genetics is currently Director of the Center for Training in Applied Genomics at KGI, and serves as the Program Director for >span class="NormalTextRun SCXW63644289 BCX0" data-ccp-parastyle="Normal (Web)"> Master of Science in Human Genetics and Genomic Data Analytics (MSGDA), an execute-education Certificate in Applied Genomics (CAG), and the Clinical Genetics and Bioinformatics (CGB) summer program for undergraduates.   Within the KGI curriculum, Fortini teaches courses in Human Molecular Genetics, Human Genomics, and Functional Genomics. Fortini’s research is focused on how non-coding genomic variation affects colorectal cancer risk, using both bioinformatics and cell-based assays to understand the consequences of variants associated with colon cancer.  Fortini completed her postdoctoral training at the Keck School of Medicine of USC in the Department of Preventive Medicine at the USC Norris Comprehensive Cancer Center. She received her BS in 2002 and her PhD in 2011 at the California Institute of Technology.

Emily Quinn, MS, CGC

Associate Professor

Keck Graduate Institute

Emily Quinn, MS, CGC is an Associate Professor and the Program Director for the Master of Science in Human Genetics and Genetic Counseling program at Keck Graduate Institute (KGI). Emily received her bachelor degrees in Biology and Psychology from the University of California Santa Cruz and her master degree in Genetic Counseling from the Icahn School of Medicine at Mount Sinai. Emily’s clinical background is in pediatric cancer predisposition and her academic research interests are in the topics of diversity, equity and inclusion, admissions processes, and educational effectiveness.

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Workshop: Teaching Variant Curation through Team-based, Active Learning Approaches
10/02/2024 at 12:00 PM (EDT)  |  Recorded On: 10/09/2024  |  55 minutes
10/02/2024 at 12:00 PM (EDT)  |  Recorded On: 10/09/2024  |  55 minutes