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.

Session Description:
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.

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. Recognize the barriers to obtaining genetic testing in the underserved
2. Describe how representation in variant databases differs with ethnicity
3. Discuss variables affecting clinical utility of exome sequencing

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:

Anne Slavotinek, MB.BS., PhD, FACMG
Professor of Clinical Pediatrics.
Disclosure (Self): Grant/Research Support NHGRI, NIH; Royalty (ies): UptoDate, Inc., Oxford University Press. Consultant: Retrophin, Inc; Roche, Inc.

Jessica Van Ziffle, Ph.D.
Assistant Professor
Nothing to disclose

Pierre-Marie Martin, Ph.D.
Clinical Genome Scientist
Nothing to disclose

Marta Sabbadini, PhD, MS, LCGC
Clinical Instructor, Department of Pediatrics
Disclosure (Self): Non-remunerative positions of influence: Invitae

Shannon Rego, MS, LCGC
Genetic Counselor
University of California, San Francisco
Disclosure (Self): Honoraria: Age Management Medicine Group; Consultant: PWNHealth