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eMERGE & CSER: The Convergence of Genomics and Medicine

Meeting room with podium

Hyatt Bethesda
One Bethesda Metro Center
Bethesda, Maryland 20814

On February 2, 2017, the National Human Genome Research Institute (NHGRI) sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, Maryland.

The meeting focused on research that seeks to rapidly advance the knowledge necessary to develop best practices for the implementation of genomic sequence data into clinical care, as well as research that combines biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research.

 

Agenda

 

Thursday, February 2, 2017

8:25 - 8:30 a.m.

Opening Remarks

Presenters
Lucia Hindorff | National Human Genome Research Institute
Video

Rongling Li | National Human Genome Research Institute - 
Video

8:30 - 8:50 a.m. Top 5 Consortium-Wide Achievements from CSER & eMERGE

Format: Two 7-minute presentations and 3-minute Q&A each

Presenters
Gail Jarvik, University of Washington | CSER
Video - Slides PDF file

Rex Chisholm, Northwestern University | eMERGE
Video - Slides PDF file
 

8:50 - 9:35 a.m. Session 1 | Revision of ACMG Gene List

Format: Three 7-minute presentations and a 20-minute discussion

Moderator

Gail Jarvik | University of Washington
Video 
 

Presenters
Wendy Chung, University of Columbia | ACMG Incidental Findings list 2.0
Video - Slides PDF file

Sharon Plon, Baylor College of Medicine | VUS or GUS? Variants or genes with weak or uncertain evidence
Video - Slides PDF file

Ian Krantz, Children's Hospital of Philadelphia | ACMG Gene Lists, Secondary Findings and Children
Video - Slides PDF file

Panel Discussion
Video

9:35 - 9:45 a.m. Break
9:45 - 10:30 a.m. Session 2 | Family Cascade Testing

Format: Three 7-minute presentations and a 20-minute discussion

Moderator
Richard Sharp | Mayo Clinic
Video

Presenters
Kathy Leppig, Group Health | Building a Family Network
Video - Slides PDF file

Janet Williams, Geisinger | eMERGE Familial Implications Workgroup
Video - Slides PDF file

Leila Jamal, Baylor College of Medicine | Challenges Related to Family Involvement in Clinical Whole-Genome Sequencing: Views of Non-Genetics Providers
Video - Slides PDF file

Panel Discussion
Video

10:30 - 11:15 a.m. Session 3 | Opportunities for Healthcare Quality Measurement in Genomics

Format: One 5-minute introduction, one 20-minute presentation, and a  20-minute discussion

Presenters
Marc Williams, Geisinger | Introduction and Moderator
Video

John Bernot, National Quality Forum | Opportunities for Healthcare Quality Measurement in Genomics
Video - Slides PDF file

Last Updated: February 13, 2017