Zöe Powis and Khalida Liaquat
Through the years, Quest Diagnostics has been a proud supporter of its genetic counselors participating in the activities of the National Society of Genetic Counselors (NSGC). Quest Diagnostics believes in the importance of active participation in the genomics community and is proud to have the work of our genetic counselors highlighted at the 41st National Society of Genetic Counselors hybrid annual conference to be held in Nashville, Tennessee this November.
Rebecca Johnson, Catherine Terhaar, Elaine Weltmer, Guiqing Cai, Guity Ghaffari, and Yuri Fesko will be presenting their poster “Clinical Yield of CNV Analysis in Hereditary Cancer Testing” (Poster# NSGC2022.06802d5). In their retrospective study, the authors assessed the contribution of copy number variation (CNV) analysis to the detection of pathogenic and likely pathogenic variants among individuals undergoing testing for hereditary cancer susceptibility genes and demonstrated the contribution that CNV analysis can give to a comprehensive hereditary cancer work-up.
Zöe Powis, Marc Meservey, Khalida Liaquat, and Sat Dev Batish will discuss their poster “Presymptomatic? Genetic Testing for Spinocerebellar Ataxia Type 10 in Over 2,000 Patients Under 12” (Poster #NSGC2022.1a5099c). This study examined the results and clinical information of patients being tested at an age that is younger than the European Federation of the Neurological Societies (EFNS) established age of onset of symptoms for SCA10 (Spinal cerebellar ataxia type 10).
You can join Emily Partack in the preconference symposium “Reassessing the use of Race, Ethnicity, Ancestry (REA) Information in Genomic Medicine” on Wednesday, November 16 from 12-5:30. Along with Alice Popejoy, PhD, Robert Nussbaum, MD, FACMG, Michelle Moore, MS, CGC, Jennifer Berkowitz, MS, CGC, and Gillian Hooker, PhD, ScM, CGC, this panel will explore current practices involving the use of REA data in genetic counseling and genomic medicine.
In her poster “Exploring the Role of Digital Tools in Rare Disease Management: An Interview-based Study,” Andrea Chang and collaborators have interviewed individuals and caregivers in the rare disease community in order to explore the role that digital tools (eg, websites and apps) play in their rare disease management.
Matthew Tschirgi and colleagues took a deep dive into the experiences of genetic counselors who are navigating the minefield of multistate licensure. They explore the frustrations, pitfalls, quandaries, and triumph of obtaining licensure in multiple states in their poster, “Barriers to Multi-state Genetic Counseling Licensure in the United States: A Qualitative Study of Laboratory Genetic Counselors.”
We are excited and honored to present the research and information topics that add to the field of genetic counseling. Whether in person or virtually, we are excited to “see” you at NSGC!