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.

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

 

Session learning objectives

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

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

 

 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

 

Faculty – Cincinnati Children’s Hospital Medical Center

Kejian Zhang, MD, MBA, FACMG

Associate Professor of Clinical Pediatrics

Director, Molecular Genetics Laboratory

Division of Human Genetics

Nothing to disclose

 
Alexander Valencia, PhD

Assistant Professor of Clinical Pediatrics

Clinical Fellow, Molecular Genetics Laboratory

Division of Human Genetics

Nothing to disclose

 

Lucas Bronicki, PhD, FACMG

Assistant Professor of Clinical Pediatrics

Director, Molecular Genetics Laboratory

Division of Human Genetics
Nothing to disclose