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Precision Health 2025 Agenda

11:00 a.m. - 7:30 p.m.

Hospitality Desk

1:00 p.m. - 4:00 p.m.

Pre-Conference Workshops

1:00 p.m. - 2:30 p.m.

Genomic Sequencing for Rare Disease

Best Practices for Analysis and Interpretation Workshop

This session will explore the current state of genomic sequencing for rare disease diagnosis, including technical and analytical standards, validation strategies and best practices for interpretation and reporting. It will include a discussion of current challenges and how emerging technologies, including multiomics and long-read sequencing, will impact diagnosis.

 

Christian Marshall PhD, FACMG, FCCMG, Molecular Laboratory Director, Division of Genome Diagnostics, The Hospital for Sick Children (SickKids)

 

Vaidehi Jobanputra PhD, FACMG, Chief Diagnostics Officer, New York Genome Center and Associate Professor, Columbia University Medical Center

 

Moderator: Katarzyna Ellsworth, PhD, FACMG, Senior Director of Clinical Operations, Rady Children’s Institute for Genomic Medicine

2:30 p.m. - 4:00 p.m.

Workshop: Leveraging the All of Us Researcher Workbench to Advance Precision Health

Participants will learn about the extensive data available on the All of Us Researcher Workbench and through a guided tour, complete an example genomic analysis. 

 

Alex Bick, Division of Genetic Medicine at Vanderbilt University Medical Center 

Tara Dutka, NIH All of Us Research Program 

4:00 p.m. - 5:00 p.m.

Welcome Cocktail Hour with Exhibitors

Session 1: 

The Current Landscape of Genomic Medicine

 

Meeting Co-Chairs: 

Eric Green, National Human Genome Research Institute

Mike Talkowski, Broad Institute of MIT and Harvard and Massachusetts General Hospital

Wendy Chung, Boston Children’s Hospital and Harvard Medical School

5:00 p.m. - 5:10 p.m.​

Opening Remarks, Welcome (Co-Chairs)

5:10 p.m. - 5:40 p.m.

Eric Green, Former Director, NHGRI

5:40 p.m. - 6:10 p.m.

Mary-Claire King, University of Washington 

6:10 p.m. - 6:40 p.m.

Speaker

6:55 p.m. - 7:20 p.m.

Platinum Sponsor

7:20 p.m. - 10:00 p.m.

Welcome Reception & Buffet Dinner

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