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
Lethal skeletal dysplasias are typically identified by routine prenatal ultrasound; however, determining the exact diagnosis by ultrasound alone can be challenging. This webinar will discuss one laboratory’s experience with clinical molecular genetic testing of prenatally identified skeletal dysplasias using targeted NGS panels. The presentation will describe the value of targeted testing in this setting, the genes most commonly responsible for these disorders, special considerations for classification of variants in these genes, and the importance of continuous evaluation of test results to improve the clinical sensitivity of targeted panels. Several cases will be presented as representative examples to illustrate important points.

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. Discuss the utility of targeted panels for prenatal molecular diagnosis of skeletal dysplasias
2. Identify the genes most commonly responsible for lethal skeletal dysplasias
3. Recognize the importance of gene specific guidelines for sequence variant interpretation
4. Describe the value of continuously evaluating test results to improve the clinical sensitivity of targeted panels

 

 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

Kerry K. Brown, Ph.D., FACMG

Associate Medical Director, Connective Tissue Gene Tests (CTGT)

Disclosures: Salary/Employment; Connective Tissue Gene Tests