Clinical Exome Sequencing Goes Live

The Genomic Medicine Initiative of the Institute for Human Genetics has recently obtained CLIA certification to provide Whole Exome Sequencing to UCSF’s clinicians. This milestone event in the delivery of precision medicine is the consequence of significant efforts by our outstanding clinical geneticists, genetic counselors, laboratory staff, molecular pathologists, bioethicists, and bioinformaticians.

Whole exome sequencing analyzes the coding region of the genome for genetic variants that cause disease. By sequencing just 2% of the genome, we can detect ~85-90% of known disease-causing genetic variants. Please join us for a symposium celebrating the arrival of this cutting-edge testing technology at UCSF!

Genentech Hall— Byers Auditorium & Atrium
600 16th Street, San Francisco, California 94158

For questions about the symposium, please contact

LIVE STREAMING will be available. Simulcasting in N-217 (Parnassus campus — Nursing Building)




Gail Jarvik, MD, PhD — “Moving the genome to the clinic”
Head, Division of Medical Genetics
The Arno G. Motulsky Endowed Chair in Medicine
Professor of Genome Sciences
University of Washington Medical Center


The schedule will be added to and further refined. Please check back closer to the date.

1:00 – 1:15
Neil Risch, PhD and Dan Lowenstein, MD
Welcome and Introductory Remarks

1:15 – 1:20
Ophir Klein, MD, PhD
Introduction of Gail Jarvik

1:20 – 2:15
Gail Jarvik, MD, PhD — Charles J. and Lois B. Epstein Visiting Professor
Moving the Genome to the Clinic

2:15 – 2:30
Pui-Yan Kwok, PhD
The UCSF Genomic Medicine Initiative

2:30 – 2:45

2:45 – 3:15
Anne Slavotinek, MD, PhD; Joseph Shieh, MD, PhD; and Mary Norton, MD
Clinical Perspectives on Whole Exome Sequencing: The UCSF Experience

3:15 – 3:45
Jessica van Ziffle, PhD; Heather Pua, MD, PhD; Ugur Hodoglugil, MD, PhD; and Mark Kvale, PhD
Laboratory, Bioinformatics, and Variant Interpretation Pipelines

3:45 – 4:00
Barbara Koenig, PhD
How is this test different from all other tests?

4:00 – 4:20
Jacqui Morgan, introduced by Renata Gallagher, MD, PhD
Doctors are trained to look for horses in a field of horses, when they should have been looking for a zebra

4:20 – 5:00
Panel Discussion with the Patient and the Experts

5:00 – 6:00