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. There are four overall learning objectives that will be covered in each session.

Session Description
During this session, the clinical utility of exome sequencing is highlighted through a case of suspected primary ciliary dyskinesia (PCD) with unexpected molecular findings. This case is an example of a scenario where molecular diagnosis drives the management and treatment of a patient. In reviewing this case, presenters will discuss exome filtration strategies, the evaluation and classification of exome-level variants in the context of reported patient phenotypes, and the benefits of physician involvement in the exome interpretation process.

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 the session, participants should be able to:

1. Discuss the utility of whole exome sequencing in informing patient management in the pulmonary clinic
2. Compare differing clinical exome filtration strategies
3. Describe the spectrum of genetic etiologies associated with common pulmonary phenotypes, i.e. recurrent infection
4. Explain how clinical labs utilize phenotypic information from providers in exome data interpretation

 

 FINANCIAL DISCLOSURES

Planning Committee

Monica Giovanni, MS, CGC

Geisinger Health System, Brookline, MA

Nothing to disclose

 

Susan Klugman, MD, FACMG

Montefiore Medical Center, Bronx, NY

Nothing to disclose

 

Amy Roberts, MD, FACMG

Children’s Hospital of Boston, Boston, MA

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

 

Faculty – Partners Healthcare

Chrissy Austin-Tse, PhD

Clinical Genetics Specialist

Laboratory for Molecular Medicine

Nothing to disclose

 

Sami Amr, PhD, FACMG

Instructor of Pathology, BWH/Harvard Medical School

Director, Translational Genomics Core

Assistant Director, Laboratory for Molecular Medicine

Nothing to disclose

 

Lael Yonker, MD

Co-Director, Pediatric Pulmonary Genetics Clinic Instructor/Assistant in Pediatrics Pulmonary Division, Department of Pediatrics Massachusetts General Hospital for Children Nothing to disclose