Dysmorphology and Human Phenotype Ontology (HPO) in the NICU Setting

Angela Fick, NP and Jennifer Stengrevics, PAC
@ 11:30 am

Presenters: Angela Fick, NP 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 …

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A Robust Phenotype and Parental Samples Improve the Diagnostic Yield

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 …

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Decoding the Genetic Test Report: The Basics

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 …

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ES/GS Result Interpretation & Clinical Correlation

Donald Basel, MD and James Weber, PhD
@ 12:30 pm

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 solutions to implementing genomic medicine in …

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Coordinating and Organizing Workflows in Your NICU

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 …

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