Course : ACMG Genomics Case Conference February 2017

Beyond Exomes: Going the Extra Mile

Hosted by Greenwood Genetic Center

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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.

Session Description

During this session, a team from the Greenwood Genetic Center will review the utility of exome sequencing and describe cases where further studies can aid in the interpretation of exome findings.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

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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

5. Demonstrate the importance of considering the results of prior testing to guide exome sequencing analysis

6. Explain how exome sequencing results might facilitate follow-up testing by other methodologies to ultimately make the diagnosis and, in some cases, expand the disorder phenotype

7. Discuss the importance of close communication between the clinical and laboratory groups 

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