Course : ACMG Genomics Case Conference December 2015

Expanding the Role of Whole Exome Sequencing (WES) into the Prenatal Setting

Hosted by Baylor College of Medicine

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. 

Today a team from Baylor College of Medicine will review the molecular diagnoses in genomic sequencing, drawing on prenatal cases from their clinics.

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Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)


At the conclusion of the series, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests

2. Identify clinical indications for whole exome/whole genome sequencing

3. List determinants used to assess the probability of a variant’s pathogenicity

4. Elaborate on the importance of pre-test counseling and consent

Session learning objectives

At the conclusion of this session, participants should be able to:

1. Identify prenatal cases that warrant evaluation by clinical Whole Exome Sequencing (WES)

2. Discuss the complexities and barriers to offering WES in the prenatal setting

3.Explain the optimization of clinical WES test to allow rapid turnaround time (TAT) in the prenatal setting 

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