Course : ACMG Genomics Case Conference April 2018
P3EGS – Expanding Exomes to the Underserved
Hosted by UCSF Benioff Children's Hospital
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During the ACMG Genomics Case Conferences, a team from the University of California, San Francisco Benioff Children’s Hospital 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.
During this webinar, we will present a summary of the P3EGS program at UCSF that seeks to assess the clinical utility of exome sequencing in an underserved and underrepresented population.
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.
Date of Release: April 18, 2018
Expiration Date: April 18, 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 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
5. Recognize the barriers to obtaining genetic testing in the underserved
6. Describe how representation in variant databases differs with ethnicity
7. Discuss variables affecting clinical utility of exome sequencing