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:
This session presents the influence of heteroplasmy, copy number, and nuclear sequences on mtDNA analysis. Sample preferences for the detection of de novo and low heteroplasmic variants will also be discussed. Presented cases involve mtDNA deletions, multiple deletions, tRNA processing, anti-codon change, and nuclear mutations affecting mitochondrial function or impacting mtDNA integrity and copy number.

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 factors potentially confounding mtDNA analysis.
2. List measures for addressing or limiting confounding factors.
3. Design a patient evaluation for a mitochondrial disorder.
4. Evaluate the likelihood of a mitochondrial diagnosis.

 

 FINANCIAL DISCLOSURES

Planning Committee

Monica A. 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)

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

 

John Bernat, MD, PhD, FACMG

University of Iowa

Disclosures: 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

Eric S Schmitt, MS, PhD, CGC

Assistant Professor, Baylor College of Medicine

Genetic Counselor, Baylor Genetics Labs

Nothing to disclose

 

William Craigen, MD, PhD, FACMG

Professor, Molecular and Human Genetics, Pediatric, Program in Translational Biology,

Baylor College of Medicine

BCM Metabolic Clinical Director,

Baylor Genetics Mito Lab Medical Director

Nothing to disclose

 

Gabrielle C. Geddes, MD, FACMG

Assistant Professor of Pediatrics, Medical College of Wisconsin

Medical Geneticist, Rare and Undiagnosed Diseases Practice Integration

Medical Director, Genomic Science and Precision Medicine Center

Nothing to disclose