Variant interpretation remains a challenging aspect of genetic testing due to the significant amount of expertise and time required for this task. The identification of variants of uncertain significance (VUS) can be challenging for both the clinician and patient.
Jennifer Schleit, senior geneticist at Blueprint Genetics, will describe how variants are classified and review current guidelines for different variant classifications. In certain cases, additional studies within the family may allow for reclassification of a variant. She will also discuss the future directions of variant interpretation.
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.