Past Event Category: BBN ECHO
-
Sep 20Decoding the Genetic Test Report: The BasicsPresenters: 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 analysis and classification at a high level Discuss challenges and solutions to implementing genomic medicine in a NICU setting [uw-reusable-content …
-
Aug 19Clinical Information Required by Testing Labs
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 genomic medicine in a NICU setting [uw-reusable-content id=”2429″]
-
Jul 26Dysmorphology and Human Phenotype Ontology (HPO) in the NICU Setting
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 implementing genomic medicine in a NICU setting [uw-reusable-content id=”2429″]
-
Jun 24Evidence and Recommendation for Genomic (ES/GS) Testing in Critically Ill Neonates
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 of ES/GS utilization in CIN Discuss challenges and solutions to implementing genomic medicine in a NICU setting [uw-reusable-content id=”2429″]
-
May 31Using Evidence Based Criteria to Identify Critically Ill Neonate Candidates for Genomic Testing
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 genomic medicine in a NICU setting [uw-reusable-content id=”2429″]