Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling

Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling Presented by: 1. Katherine Bonini, MS, MA, CGC 2. Karen Miga, PhD 3. Stephanie Malia Fullerton, DPhil This session will explore the transformative impact of the human pangenome on the future of clinical genetic testing. Unlike the current human reference genome—built over 20 years ago using limited samples and outdated technology—the pangenome incorporates hundreds of diverse genomes using advanced long-read sequencing. In this session, attendees will gain a foundational understanding of the pangenome, its key differences from the traditional reference genome, and its clinical implications. We will also cover practical considerations for integrating the pangenome into clinical workflows, evaluate cases in which the pangenome enabled diagnoses missed using the single reference genome, and discuss related ethical issues such as equitable access and responsible data use. Designed for genetic counselors across all specialties, this session will prepare attendees for the integration of the pangenome into clinical practice, ensuring they stay at the forefront of genomic innovation as this advanced resource enhances diagnostics and improves patient outcomes. Learning Objectives: 1. Explain the human pangenome and why it is necessary to address the limitations of the traditional reference genome. 2. Identify ethical issues related to the development and use of the human pangenome, particularly as it relates to better representing global genetic diversity and improving care for underrepresented populations. 3. Identify how the human pangenome will enhance clinical genetic testing practices, including improving diagnostic accuracy and addressing health disparities. The National Society of Genetic Counselors (NSGC) has authorized National Society of Genetic Counselors (NSGC) to offer up to 1 Category 1 contact hours for Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification. Successful Completion: 1. View recording 2. Pass quiz 3. Complete survey

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Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling Recording
Open to view video.  |  60 minutes
Open to view video.  |  60 minutes
Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling Quiz
5 Questions  |  1 attempt  |  0/5 points to pass
5 Questions  |  1 attempt  |  0/5 points to pass
Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling Evaluation
14 Questions
Embracing Genetic Diversity: Why the Human Pangenome Matters for Genetic Counseling Certificate
0.10 CEU credits  |  Certificate available
0.10 CEU credits  |  Certificate available