Northwestern University

Mon 1:30 PM

Understanding Actionable and Uncertain Findings from Clinical Genome, Exome, or Panel Sequencing in Population-Scale Patient Cohorts

When: Monday, February 26, 2018
1:30 PM - 2:30 PM  

Where: Robert H Lurie Medical Research Center, Searle Seminar Room, 303 E. Superior, Chicago, IL 60611 map it

Audience: Faculty/Staff - Student - Post Docs/Docs - Graduate Students

Contact: Michelle Mohney   312.503.5600

Group: Center for Genetic Medicine

Category: Lectures & Meetings


Adam S. Gordon, PhD
Senior Fellow, University of Washington Medical Genetics

As genome sequencing based testing continues to expand into regular clinical practice and massive research efforts such as the All of Us Program, we are certain to uncover not only pathogenic variation that requires clinical action, but also a significant amount of variation in these same genes with uncertain consequences to protein function, and, in turn, disease risk. This talk will provide an overview of the rates and types of these actionable and uncertain findings likely to be uncovered in patient sequencing and introduce new approaches that combine patient data, massively parallel functional assays, and bioinformatic analysis to better classify variants of uncertain significance.

Adam graduated in 2009 with a bachelor's degree in biology from the University of Chicago, where he worked on detecting signatures of local and recent human adaptation in diverse global populations under the supervision of Dr. Anna Di Rienzo. After starting graduate work in 2009 at University of Washington Genome Sciences, he joined the lab of Dr. Deborah Nickerson in 2010 to work on the production and analysis of data for the NHLBI Exome Sequencing Project. He completed his Ph.D. in 2015, with a thesis describing patterns of rare and common pharmacogenetic variation within this dataset, the development of a sequencing panel specifically for pharmacogenetic targets, and its deployment across eMERGE, the NHGRI's Electronic Medical Records & Genomics (eMERGE) Network. He then joined the lab of Dr. Gail Jarvik at UW Medical Genetics as a postdoctoral fellow to continue his work with the eMERGE network and gain an understanding of how genomic testing impacts patient care. His current work includes analyzing incidental findings data across the eMERGE network, characterizing actionable and uncertain findings among Colorectal Cancer/Polyps patients, and developing new methods to improve variant classification. A longtime advocate for science education and inclusion, Adam co-founded UW's first organization for LGBTQ graduate students and is a Science Communication Fellow at the Pacific Science Center where he volunteers regularly.


Add Event to Calendar

Add Event To My Group:

Please sign-in