This session is accredited.

Supporting genomics in research and medicine requires infrastructure, including standards, knowledgebases and global data sharing, as well as a rich interface between research and clinical care as new discoveries are made. This talk will present community efforts in knowledge curation within the Clinical Genome Resource, novel gene discovery in rare disease and standards development and data sharing efforts in clinical genomics.


At the end of the session, participants will be able to:
– Describe the rationale for sharing genomic and health data to improve patient care.
– Identify resources that can be used to improve genomic testing and the interpretation of results.
– Discuss how we will advance genomic medicine as a community.

Target Audience: Geneticists

CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Leader, Health Advocate, Scholar, Professional


Dr. Heidi Rehm is the Director of the Genomic Medicine Unit in the Center for Genomic Medicine and the Chief Genomics Officer in the Department of Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a board-certified laboratory geneticist and Chief Medical Officer and Clinical Laboratory Director of Broad Clinical Laboratories working to guide genomic testing for clinical and clinical research use. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as Chair of the Global Alliance for Genomics and Health. She also serves as Vice President of Laboratory Genetics on the Board of the ACMG.

Declaration of Conflict of Interest: Has a relationship with Genome Medical as a speakers’ bureaus member. Research funding received from Microsoft and Illumina.

Event Timeslots (1)

Day 1
Opening Keynote - Accredited