This is our annual educational webinar on variants of uncertain significance.
Genetic testing is becoming increasingly widespread in medical practice. Despite increasing use of these technologies, there continue to be variants identified that lack sufficient evidence to determine whether they are related to an individual’s phenotype. Such variants are classified as variants of uncertain significance (VUS), and receiving this result can be challenging for both clinicians and patients.
During this educational webinar, Laboratory Director Dr Jennifer Schleit and certified genetic counselor Christèle du Souich, will delve into an in-depth discussion on variants of uncertain significance, exploring both the clinical team and diagnostic laboratory’s perspective. We will review the different variant classifications, with specific focus on why certain variants are considered to be of uncertain significance. Possible next steps that could assist with reclassification of variants and familial variant testing in different family structures will be discussed. Finally, we will examine approaches to counselling patients and family members about a VUS.
- Describe different variant classifications and explain why some variants are considered to be of uncertain significance
- Examine possible next steps for reclassifying variants of uncertain significance
- Review different family scenarios and discuss familial variant testing
- Discuss approaches to genetic counselling about variants of uncertain significance
Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.
Christèle du Souich
Christèle du Souich, MSc, CCGC, CGC, is a Canadian and American Board certified genetic counselor with over 23 years experience in the clinical, pediatric, and prenatal settings. Throughout her career, Christèle has been very active in rare disease research, publishing numerous original research papers and presenting her work at many national and international conferences. She is an active member of the Scientific Program Committee of the Canadian Association of Genetic Counsellors, and teaches and supervises Genetic Counseling students at the University of British Columbia. In January 2022, Christele joined the Blueprint Genetics Team as the Senior Manager for Clinical Branding.