Course : ACMG Genomics Case Conferences October 2016

Three Years of WES Clinical Services at CCHMC
Hosted by Cincinnati Children’s Hospital Medical 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

Whole exome sequencing (WES) technology has become a critical tool for establishing diagnoses, prognosis and developing personalized treatment for patients with genetic disorders.  The Molecular Genetics Laboratory at Cincinnati Children’s Hospital Medical Center (CCHMC) has offered WES as a clinical service since July of 2013. In this seminar, the CCHMC WES team, will share their three years of experience of clinical WES testing. They will present the clinical utility of the clinical WES test, share interesting cases, and lead the discussion on the challenges WES clinical testing and potential complimentary solutions.

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
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. Explain the general workflow and validation process of clinical WES testing
7. Describe the clinical utility of WES testing
8. State the limitations and challenges of clinical WES testing and explore potential solutions of reflect and follow up testing.

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