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:
Three cases will be presented representing atypical or expanded phenotypes in which the molecular findings required extensive clinical correlation or other studies before the diagnosis was accepted. Counseling challenges in these situations will also be discussed.

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. Discuss additional testing and clinical correlation for achieving accurate phenotype and genotype assignment
2. Discuss the counseling challenges associated with expanding phenotypes and variable expression of rare genetic diseases.
3. Describe the clinical utility of symptom-driven analysis in the context of whole exome/whole genome sequencing tests

 

 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

 

Presenter Disclosures – Presenters from Children's Mercy Kansas City - Pediatric Genomic Medicine

 

Carol Saunders, PhD, FACMG

Clinical Director

Nothing to disclose

 

Lauren Grote, MS, CGC

Genetic Counselor

Nothing to disclose

 

Isabelle Thiffault

Assistance Clinical Directors

Nothing to disclose

 

Emily Farrow, PhD, CGC

Laboratory Operations Director

Nothing to disclose

 

Jennifer Gannon, MD

Clinical Biochemical Geneticist

Clinical Assistant Professor of Pediatrics

Nothing to disclose