During The ACMG Genomics Case Conferences, a team from Johns Hopkins University and Greater Baltimore Medical Center will present and lead discussions on an intriguing, complex and/or difficult patient cases 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:
In this webinar, the presenters will review a case that was solved by a match in one of the databases connected to Matchmaker exchange. They will explain what databases are connected and how to share the data among these databases.

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

5. Describe the role of Matchmaker exchange on sharing phenotypic and genomic data

6. Use one of the datases connected to Matchmaker exchange

7. Identify the relevant data to be shared in the databases connected to Matchmaker exchange

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

 

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG

 

Presenters and Disclosures

 

Nara Sobreira, MD, PhD

Assistant Professor of Pediatrics

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University

Nothing to disclose

 

Antonie Debra Kline, MD

Medical Director of Pediatric Genetics, Department of Pediatrics,

The Harvey Institute for Human Genetics

Greater Baltimore Medical Center

Disclosure (Self): Salary/Employment with Cornelia de Lange Syndrome Foundation