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:
- Describe the clinical utility of whole exome/whole genome sequencing tests
- Identify clinical indications for whole exome/whole genome sequencing
- List determinants used to assess the probability of a variant’s pathogenicity
- Elaborate on the importance of pre-test counseling and consent
Session learning objectives
At the conclusion of this session, participants should be able to:
- Distinguish pathologic hypermobility from physiologic hypermobility.
- Compare the Villefranche criteria for EDS-HT to the Brighton criteria for BJHS and understand their limitations.
- Recognize the association between JH and chronic, (often) medically refractory multi-articular joint pain.
- 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