Perspectives on Whole Exome Sequencing
Speaker:
John F. Thompson, PhD; David Miller, MD, PhD; Natalie Vena, LGC
Contact Hours:
1.0
Date:
January 20, 2025 - January 31, 2027
Description:
During this presentation, speakers from Claritas Genomics and Boston Children's Hospital will examine the current state of clinical whole exome sequencing. They will share perspectives on various challenges that the industry is currently facing, such as confirmation steps, variant interpretation, and data collection. Case examples will add dimension to the discussion of these issues.
Learning Objectives:
- Outline the current state of clinical exome sequencing from technological, clinical, and genetic counseling perspectives.
- Use case examples to underscore the power of whole exome sequencing.
- Identify current perspectives, policies, and recommendations surrounding topics such as secondary findings, confirmation studies, informed consent, and variant interpretation.