Release Date: Mar 2019
CC: PC, MK
Shimul Chowdhury, PhD, FACMG, CGMB
Clinical Laboratory Director, Rady Children's Institute for Genomic Medicine, San Diego, CA
After completing this course, participants will be able to:
· Recognize the current state of genetic testing and how rapid genomic sequencing fits into the current testing paradigms.
· Recognize key phenotypic features and clinical conditions that have been shown to benefit from genomic sequencing.
· Describe the methodology of rapid whole genome sequencing and why this testing approach is critical for patient management in the intensive care unit.
Who should attend? Practicing Pathologists, Residents, Doctoral Scientists, Laboratory Directors, Laboratory Managers, Bench Technologists & Technicians, Cytotechnologists
Rapid genomic sequencing has been shown to result in increased diagnostic rates and improved outcomes in neonates in the intensive care unit compared to the current standard of care. Although the initial data replicated in multiple studies across multiple countries has shown promising results, barriers remain for widespread adoption of rapid genomic sequencing. High costs of testing, the lack of genomics education, and the current lack of reimbursement are all areas that must be addressed to make rapid genomic sequencing a first-tier test for children in the intensive care unit. This webcast will describe the experience of performing this testing at the Rady Children's Institute for Genomic Medicine, and highlight selected case examples that have resulted in drastic changes in the management of patients. The course will summarize the past, current, and future outlook for genomic testing, and focus on how this testing can be scaled to test the tens of thousands of children in the United States that could benefit from this testing.
A basic knowledge of genetics and genomics is assumed.