Searching for Zebras: Exome Sequencing in the Clinical Lab

Jane S Juusola, PhD, FACMG

Clinical Molecular Geneticist and Director,
Whole Exome Sequencing Program, GeneDx

Whole-exome sequencing (WES) is increasingly being
utilized as a first-tier molecular genetic test for a variety of indications.
The unbiased approach of WES provides a valuable tool to diagnose genetic
conditions. WES can be especially useful in detecting de novo pathogenic
variants by analyzing a trio with the proband and both biological parents. In
addition, having access to a large data set enables gene discovery in patients
with epilepsy, congenital heart disease, neurodevelopmental disabilities, and
many other phenotypes. The clinical yield of this test is expected to increase
over time, which allows patients to avoid needless diagnostic procedures and
begin care tailored to their diagnosis, inform reproductive decisions, and provide
closure to patients and families with a diagnosis.

All seminars are free but you must register to reserve your seat and your meal.

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