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:
During this Case Conference, the presenters will review case(s) that illustrate the difficulty of clinical diagnosis of EDS-HT and review case(s) that illustrate challenges in the management of EDS-HT. They will also address areas of clinical uncertainty and common misconceptions.

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. Distinguish pathologic hypermobility from physiologic hypermobility.
2. Compare the Villefranche criteria for EDS-HT to the Brighton criteria for BJHS and understand their limitations.
3. Recognize the association between JH and chronic, (often) medically refractory multi-articular joint pain.
4. Recognize clinical scenarios that suggest an alternative diagnosis to EDS-HT/BJHS.

 

 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

 

Presenters and Disclosures

 

Scott Hickey, MD, FACMG

Chair, ACMG Professional Practice and Guidelines Committee

Assistant Professor of Clinical Pediatrics

The Ohio State University

Program Director, Medical Genetics Residency Program

Division of Molecular & Human Genetics

Nationwide Children’s Hospital

Disclosure: Alexion grant for long-term registry of patients with Hypophosphatasia (HPP)

 

Brad Tinkle, MD, PhD, FACMG

Division Head of Clinical Genetics

Advocate Children's Hospital

Associate Director in the Clinical Molecular Genetics Laboratory at Cincinnati Children’s Hospital Medical Center (CCHMC)

Nothing to disclose