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:
The goal for this webinar is to review the genetics and clinical spectrum of the neurofibromatoses. This will be done through case examples that highlight the ambiguities or necessity of unique testing approaches outside of standard DNA-based testing options from blood

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. Differentiate NF1 versus Legius syndrome versus mosaic NF1 by applying appropriate testing and recognize current genotype-phenotype correlations
2. Review unique testing approaches to analyze mosaicism
3. Illustrate the ambiguity and overlap between NF2/ mosaic NF2 and schwannomatosis
4. Utilize germline and somatic testing approaches to interpret and examine pathogenicity of variants associated with schwannomatosis predisposition disorders

 

 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 and Disclosures

 

Ludwine Messiaen, PhD, FACMG

Professor of Genetics, Director Medical Genomics Laboratory

University of Alabama at Birmingham (UAB)

Nothing to disclose

 
Alicia Gomes, MS, CGC

Senior Certified Genetic Counselor

University of Alabama at Birmingham (UAB)

Nothing to disclose