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 overview:
Developmental delay, intellectual disability, and related conditions (DD/ID) have considerable medical, financial, and psychological impacts on affected individuals and their families. As part of the Clinical Sequencing Exploratory Research (CSER) Consortium, we are sequencing children with intellectual and developmental disabilities that are refractory to standard diagnostic testing. Cases from this cohort will be presented, including those resulting in changes to medical management. Gene discovery and secondary findings will also be briefly discussed. Our experiences strongly support the value of large-scale sequencing as both a potent first-choice diagnostic tool and means to continually advance clinical and research progress related to DD/ID, especially when data are shared freely and rapidly.

Learning Objectives

At the conclusion of the series, participants should be able to:

• Describe the clinical utility of whole exome/whole genome sequencing tests
• Identify clinical indications for whole exome/whole genome sequencing
• List determinants used to assess the probability of a variant’s pathogenicity
• Elaborate on the importance of pre-test counseling and consent

Session Learning objectives

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

•  Describe the overall goals of the CSER project at HudsonAlpha
• Identify changes in clinical management that can occur based on sequencing developmental delay/intellectual disability -affected individuals
• Address implications of reporting secondary and incidental findings to unaffected participants

 

 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

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG

 

Contributors: HudsonAlpha Institute for Biotechnology

The following have nothing to disclose.

Michelle Amaral, Post-doctoral Researcher

Michelle Thompson, Senior Scientist

Candice Finnila, Senior Scientist

 

Presenters and Disclosures

The following have nothing to disclose.

Kevin M. Bowling, PhD, Senior Scientist, HudsonAlpha Institute for Biotechnology

Whitley V. Kelley, CGC, Genetic Counselor, HudsonAlpha Institute for Biotechnology

Gregory M. Cooper, PhD, Faculty Investigator, HudsonAlpha Institute for Biotechnology
Martina Bebin, MD, MPA, Professor, Neurology, University of Alabama at Birmingham

Dr. E. Martina Bebin will be discussing the following off-label disclosure: Riluzole