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
In this presentation we will review recent cases from the Stanford site of the Undiagnosed Diseases Network in which clinical exome sequencing was initially non-diagnostic and how additional laboratory evaluation or data reanalysis resulted in a confirmed molecular diagnosis.

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. Recognize classes of single nucleotide variants more likely to be misclassified as benign or of uncertain significance.
2. Describe clinical findings suggestive of the presence of mosaicism and initiate molecular testing to confirm such a diagnosis.
3. Contrast the strengths and limitations of available methods for detecting clinically important structural variants.

 

 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

 

 

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG

 

Presenters and Disclosures

The following have nothing to disclose.

 

Jon Bernstein, MD, PhD

Associate Professor Pediatrics, Stanford University School of Medicine

 Matt Wheeler, MD, PhD
       Clinical Assistant Professor, Stanford University School of Medicine