Clinical Guidelines for the Use of Exome and Genome Sequencing for Evaluation of Congenital Anomalies, Intellectual and Developmental Disability, and Perinatal Disorders Course
Clinical Guidelines for the Use of Exome and Genome Sequencing for Evaluation of Congenital Anomalies, Intellectual and Developmental Disability, and Perinatal Disorders Course is organized by Centene Institute for Advanced Health Education.
Dates: September 27, 2022 - September 28, 2025
Description:
As precision medicine and genomics becomes the new frontier in pediatrics, this course explores the current clinical guidelines on exome and genome sequencing for evaluating birth defects, developmental and intellectual disabilities, and perinatal disorders. This course describes the current state of genetic testing for the pediatric population and discusses the use of exome and genome sequencing as a diagnostic application.
Learning Objectives:
• Describe the prevalence of congenital abnormalities, developmental delay, and intellectual disability in the pediatric population
• Explore the current state of genetic testing for pediatric patients with congenital abnormalities, developmental delay, and intellectual disability, including exome and genome sequencing
• Analyze ACMG Evidence-Based Guideline Work Group recommendations for the use of whole exome or genome sequencing
• Discuss the use of whole exome or genome sequencing as a diagnostic approach to perinatal disorders of unknown cause