Course : ACMG Genomics Case Conference December 2016

Surprises from the NGS Lab: Reconciling Genotype with Phenotype in the Era of Genomic Medicine

Hosted by Children's Mercy Kansas City

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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

Three cases will be presented representing atypical or expanded phenotypes in which the molecular findings required extensive clinical correlation or other studies before the diagnosis was accepted. Counseling challenges in these situations will also be discussed.

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. Discuss the meaning of “secondary findings” in whole exome/whole genome sequencing tests

6. Discuss additional testing and clinical correlation for achieving accurate phenotype and genotype assignment

7. Discuss the counseling challenges associated with expanding phenotypes and variable expression of rare genetic diseases.

8. Describe the clinical utility of symptom-driven analysis in the context of whole exome/whole genome sequencing tests

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