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:
“Women have two X chromosomes, but men have an X and a Y.” The X chromosome has a critical role in genetics, but is often less considered than the autosomes. This session will use whole exome sequencing (WES) results to review the biology of the X-chromosome, including X-linked patterns of inheritance and X-inactivation. Presenters will provide examples of WES results that describe sequence variants in newly identified genes causing X-linked ID. They will also discuss the merits of WES versus panel testing for individuals with X-linked ID and for individuals with ID that has an unknown inheritance pattern.
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 the session, participants should be able to:
- Explain the principles of X-linked recessive and X-linked dominant inheritance
- Describe the mechanism for X-inactivation and how this can influence clinical findings
- Discuss the contribution of X-linked genes to intellectual disability and to be aware of recently identified X-linked genes
- Explain the advantages and disadvantages of whole exome sequencing versus panel testing for X-linked intellectual disability, and also for testing for intellectual disability in which the inheritance pattern is not known
FINANCIAL DISCLOSURES
Planning Committee
Monica Giovanni, MS, CGC
Geisinger Health System, Brookline, MA
Nothing to disclose
Liming Bao, MD, PhD, FACMG
Dartmouth-Hitchchcock 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
Faculty – University of California, San Francisco
Jude Abadie, PhD
Molecular Genetics Fellow
Nothing to disclose
Marta Sabbadini, PhD, MS, LCGC
Genetic Counselor, Biochemical Genetics and Personalized Genomics
Nothing to disclose
Anne Slavotinek, MBBS, PhD, FACMG
Professor of Clinical Pediatrics
Royalties Up to date; Oxford University Press
Jessica Van Ziffle, PhD
Assistant Professor of Pathology
Nothing to disclose