Featuring: Donald Basel, MD and James Weber, PhD
@ 11:30 am - 12:30 pm
NOTE: Rescheduled from October 14, 2025 Presenters: Donald Basel, MD and James Weber, PhD Learning Objectives: Interpret provisional and final genetic test results Discuss importance of clinical correlation when interpreting uncertain genetic findings Discuss challenges and …
Sumedha Ghate, MS, CGC
@ 12:30 pm
Presenter: Sumedha Ghate, MS, CGC Learning Objectives: Discuss the benefits, limitations and utility of ES/GS in a family-appropriate manner Describe the ACMG recommendations for obtaining informed consent Identify resources for obtaining informed consent Discuss challenges and …
Caroline Kielczewski, MS, CGC and Sumedha Ghate, MS, CGC
@ 11:30 am
Presenters: Caroline Kielczewski, MS, CGC and Sumedha Ghate, MS, CGC Learning Objectives: Describe a clinical workflow for implementation of ES/GS in a NICU setting Identify provider roles in the NICU ES/GS workflow Discuss importance of effective …
Donald Basel, MD and James Weber, PhD
@ 12:30 pm
See New Event Page: January 10, 2025 Presenters: Donald Basel, MD and James Weber, PhD Learning Objectives: Interpret provisional and final genetic test results Discuss importance of clinical correlation when interpreting uncertain genetic findings Discuss challenges …
Sara Zoran, MS, CGC and James Weber, PhD
@ 11:30 am
Presenters: Sara Zoran, MS, CGC and James Weber, PhD Session Objectives: Define basic genetic terms and concepts as they relate to a genetic test report Navigate the major elements of a genetic test report. Describe variant …
James Weber, PhD
@ 12:30 pm
Presenter: James Weber, PhD Learning Objectives: Discuss evidence supporting the increase in ES/GS diagnostic yield with provision of thorough phenotypic information using HPO terms and parental samples to test labs Discuss challenges and solutions to implementing …
Carolyn Scoptur, APNP and Jennifer Stengrevics, PAC
@ 11:30 am
Presenters: Carolyn Scoptur, APNP and Jennifer Stengrevics, PAC Learning Objectives: Describe a basic dysmorphology exam Describe phenotypic abnormalities using standardized HPO vocabulary Identify clinician resources for dysmorphology exams and HPO terms Discuss challenges and solutions to …
April Hall, PhD, MS, CGC
@ 12:30 pm
Presenter: April Hall, PhD, MS, CGC Learning Objectives: Describe evidence regarding diagnostic yield of ES/GS in critically ill neonates (CIN) Describe evidence for clinical utility of ES/GS in CIN Describe literature supporting the cost efficiency …
Jess Scott Schwoerer, MD
@ 11:30 am
Presenter: Jess Scott Schwoerer, MD Learning Objectives: Describe clinical presentations in critically ill neonates (CIN) that indicate ES/GS testing Identify clinical presentations in CIN that indicate other genetic testing Discuss challenges and solutions to implementing …
