Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description
Despite its effectiveness, 60-75% of patients remain undiagnosed after WES (WES negatives). Standard WES reanalyses can resolve 10-15% of these WES negative cases. Thus, further approaches are necessary to maximize diagnoses in these individuals. The UDN is increasingly accepting patients who are WES negative. The Duke/Columbia and Vanderbilt UDN sites will outline their approaches to WES negative cases and present two illustrative cases that were resolved after a negative WES, by utilizing innovative bioinformatics in WES reanalyses, WGS and functional studies.

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. Delineate systematic approaches to WES negative cases
2. Recognize the importance of the role of WES reanalyses and non-coding variants in WES negative cases
3. Illustrate the importance of functional studies in determining pathogenicity of variants of interest

 

 FINANCIAL DISCLOSURES

 

Planning Committee

Monica Giovanni, MS, CGC

ACMG Education Committee Chair and Liaison to the Program Committee

Nothing to disclose

 

Anne Slavotinek, MB.BS., PhD, FACMG

University of California, San Francisco (UCSF)

Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate

 

John Bernat, MD, PhD, FACMG

University of Iowa

Receives grant/research support from Sanofi Genzyme, Shire and Protalix

 

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG

 

Presenter Disclosures

Vandana Shashi, MBBS, MD, FACMG

Professor of Pediatrics

Duke University School of Medicine

Nothing to disclose

 
Vimla Aggarwal, MBBS, FACMG

Assistant Professor of Pathology & Cell Biology

Columbia University

Nothing to disclose

 

John A. Phillips, III, MD, FACMG

David T. Karzon Professor of Pediatrics

Professor of Biochemistry, Medicine and Pathology

Vanderbilt University School of Medicine

Nothing to disclose