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.

Learning objectives

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. Demonstrate the importance of considering the results of prior testing to guide exome sequencing analysis
2. 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
3. Discuss the importance of close communication between the clinical and laboratory groups

 

 FINANCIAL DISCLOSURES

Planning Committee

Monica Giovanni, MS, CGC

Geisinger Health System, Brookline, MA

Nothing to disclose

 

Liming Bao, MD, PhD, FACMG

Dartmouth-Hitchcock Medical Center

Nothing to disclose

 

Christian Schaaf, MD, PhD, FACMG

Baylor College of Medicine and Jan & Dan Duncan Neurological Research Institute, Houston, TX

Nothing to disclose

 

Staff - American College of Medical Genetics and Genomics

Jane Radford, MHA, CHCP

Nothing to disclose

 

Michael Watson, PhD, FACMG

Nothing to disclose

 

Presenters and Disclosures

The following have nothing to disclose.

Julie Jones, PhD, FACMG, Director, Clinical Genomic Sequencing Program

Catherine J. Spellicy, PhD, Clinical Molecular Genetics Laboratory Fellow

Jennifer Anne Lee, PhD, FACMG, Lead Director, Molecular Diagnostic Laboratory

Katarzyna (Kasia) Ellsworth, PhD, Clinical Molecular Genetics Laboratory Fellow