During the ACMG Genomics Case Conferences, a team from Shanghai Children’s 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:
China adopted the NGS technology rapidly for the purpose of molecular diagnosis but the lack of well-trained specialists (clinical geneticist, lab genomic scientist and genetic counselor) and the high cost associated with NGS-based test are limiting the routine clinical utilization of this technology in China. Due to such situations, we sought to use a subexome approach by limiting the test to the medical exome that only target the known Mendelian disease genes (medical exome) and only offered to the proband in the family as a cost effective approach. We will present the advantages and limitations of such a practice. We will demonstrate the clinical utilities of this medical exome based test for patients with endocrinology conditions such as short stature and disorder of sex development.

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. Discuss the challenges of implementing NGS-based clinical diagnostic test in China
2. Assess the advantages and limitations of medical exome based diagnostic test vs. whole exome/whole genome based test
3. Recognize the diagnostic yield of medical exome based diagnostic test  for patients with short stature or disorder of sex development
4. Explain the clinical utility of medical exome based diagnostic test for patients with short stature or disorder of sex development

 

 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

 

Yiping Shen PhD, FACMG

Director of the Department of Medical Genetics, Shanghai Children's Medical Center

Nothing to disclose

 

Jian Wang, PhD

Director of the Genetic Diagnostic laboratory, Assistant director of the Department of Medical Genetics, Shanghai Children's Medical Center

Nothing to disclose

 

Xuyun Hu, PhD

Department of Medical Genetics, Shanghai Children's Medical Center

Nothing to disclose

 

Yufei Xu, MS

Department of Medical Genetics, Shanghai Children's Medical Center

Nothing to disclose

 

Xiuming Wang, MD, PhD

Director of the Department of Endocrine and Genetic Metabolic Diseases, Assistant director of Department of Medical Genetics, the Shanghai Children's Medical Center

Nothing to disclose