Ambry Genetics - Applications of Diagnostic Exome Sequencing

Explore the applications of Diagnostic Exome Sequencing (DES) in the Neonatal Intensive Care Unit (NICU) through this informative one-hour webinar. Gain insights into the clinical effectiveness of DES, institutional experiences, and gene sequencing methodologies. Examine patient populations, common indications for testing, and overall detection rates based on the first 500 cases. Delve into case examples, understand the unique challenges of the neonatal population, and learn about the benefits of early diagnosis. Discuss important considerations when choosing testing options, including emotional, physical, and psychosocial factors. Navigate through test options, NICU costs, and key takeaways to enhance your understanding of DES applications in neonatal care.

Intro
Objectives
Diagnostic Exome Sequencing (DES)
What is the Exome?
Clinical-effectiveness of Diagnostic Exome Sequencing
Institutional Experience
Institutional Offerings
Genes of Exome Sequencing
Exome Report Categories
Methods
Results: Patient Population
Results: Indications for testing
Results: Common Indications for Testing
Results: Overall Detection Rates (First 500 cases)
Results: Neonatal Detection Rates
Selected Diagnoses Syndrome
Data Analysis Conclusions
Case Example #1
Family History
Case Example #2
The Neonatal Intensive Care Unit (NICU)
What is the "neonatal population"?
Undiagnosed Pediatric Population
ACMG Policy Statement
Benefits of Exome Sequencing and Early Diagnosis
Benefits of Early Diagnosis
Considerations When Choosing Testing
Emotional and Physical Considerations
Psychosocial Considerations
NICU Cost
Navigating Test Options
"Take Home" points
Acknowledgements
THANK YOU