Course : ACMG Genomics Case Conference May 2018

The Cost-effective Medical Exome Based Diagnostic Test in Chine and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex
Hosted by Shanghai Children’s Medical Center
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Course Description
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.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: May 16, 2018
Expiration Date: May 16, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

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Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)


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

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