Challenges and opportunities with clinical exome sequencing

EPISODE DESCRIPTION
Clinical exome sequencing involves sequencing the approximately 20,000 human genes as a diagnostic test for patients suspected to have a Mendelian genetic disorder in which prior genetic testing has yielded uninformative results and/or a genetic diagnosis is unrecognizable based on clinical features alone. Analysis of exome data is challenged by the broad nature of the test and possible results that may be discovered, including secondary and incidental findings. A diagnosis is reached in about 30% of patients undergoing exome sequencing and studies have shown the potential cost savings and reduced time to diagnosis when exome sequencing is utilized. Reanalysis of exome data over time provides additional opportunities to resolve previously uninformative results as new gene-disease discoveries are made. In the rapidly evolving landscape of genomics, clinical exome sequencing is one of a growing number of molecular diagnostic tools available and sets the stage for future applications of genomics within the framework of precision medicine.
After viewing this lecture, participants should be able to:
1. Identify when exome sequencing is an appropriate clinical test.
2. Describe the types of genes evaluated as secondary findings.
3. Recognize challenges of exome sequencing.

Jillian Buchan, MS PhD FACMG
Assistant Professor, Dept of Laboratory Medicine and Pathology
Associate Director, Genetics and Solid Tumor Laboratory/Northwest Clinical Genomic Laboratory

10/28/20