Medical Geneticist Boston Children's Hospital West Roxbury, Massachusetts, United States
Description: Beginning with a review of the establishment and evolution of the ACMG SF list, this talk will discuss challenges of using ACMG SF’s for opportunistic genomic screening from the perspective of both laboratories and clinicians.
Learning Objectives: - Understand how both phenotypic and technical issues are considered in choosing gene-disease pairs for the ACMG SF list - Understand how actionability is conceptualized in relation to ACMG Secondary Findings
