Program

Wednesday, June 28, 2017

  • 5:00pm - 7:00pm
    • Registration open, Metropolitan Ballroom Foyer
    • Poster Set Up, Dupont Ballroom
  • 7:00pm - 9:00pm 
    • ​Precision Medicine, Moderator: Heidi Rehm, Harvard Medical School
      • 7:00pm Welcome and Introduction
        • Heidi Rehm
      • 7:15pm Accelerating Precision Health for All of Us
        • Eric Dishman, All of Us Research Program, National Institutes of Health
      • 7:45pm DDD: A National Exome Sequencing Study
        • Caroline Wright, University of Exeter
      • 8:15pm Q&A
      • 8:30pm Moderated Discussion: Precision Medicine, Moderator: Heidi Rehm

Thursday, June 29, 2017

  • 7:30am - 8:00am
    • Registration, Metropolitan Ballroom Foyer
    • Breakfast Sponsored by Illumina​, Metropolitan Ballroom Foyer
    • Poster Set Up, Dupont Ballroom
  • 8:00am - 9:15am
    • Curating Gene-Disease Relationships, Moderator: Caroline Wright
      • 8:00am Gene Curation: G2P Efforts
        • Helen Firth, Cambridge University Hospitals
      • 8:15am The ClinGen Gene Curation Process
        • Erin Rooney Riggs, Geisinger Health System
      • 8:30am Selected from Abstracts Use of the ClinGen Clinical Validity Framework to Evaluate the Strength of Evidence for Genes Implicated in Hypertrophic Cardiomyopathy
        • Jennifer Goldstein, University of North Carolina at Chapel Hill
      • 8:45am Selected from Abstracts The Impact of Community Curation of Gene- Disease Relationships for Clinical Genome Analysis
        • Ellen McDonagh, Genomics England
      • 9:00am Q&A
      • 9:10am Harmonizing Gene Curation Efforts Panel, Moderator: Caroline Wright
  • 9:30am - 10:45am
    • Perspectives and Regulations on Data Sharing, Moderator: Helen Firth
      • 9:30am UK Perspective on Data Sharing
        • Alison Hall, PHG Foundation
      • 9:45am Patient Access to Genetic Test Results and Associated Data
        • Sandra Park, American Civil Liberties Union
      • 10:00am Selected from Abstracts The BRCA Exchange: Global Data Sharing and Knowledge Exchange to Enable Accurate Clinical Care
        • Lena Dolman, Global Alliance for Genomics and Health (GA4GH)
      • 10:15am Selected from Abstracts Resolving Variant Interpretation Differences in ClinVar between 43 Clinical Laboratories
        • Steven Harrison, Harvard Medical School
      • 10:30am Q&A
  • 10:45am - 11:05am
    • Morning Break
  • 11:05am - 12:20pm
    • Consent and Return of Results, Moderator: Christa Martin, Geisinger Health System
      • 11:05am An Introduction on ACMG Secondary Finding Reporting Recommendations
        • Christa Martin
      • 11:10am Mainstreaming Cancer Genetics - Return of Results
        • Nazneen Rahman, The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust
      • 11:25am MyCode Program at Geisinger Health System
        • David Ledbetter, Geisinger Health System
      • 11:40am Disclosing Genomic Results in the Prenatal Setting
        • Igna Van den Veyver, Baylor College of Medicine
      • 11:55am Return of Results Panel and Discussion, Moderator: Christa Martin
  • 12:20pm - 1:30pm
    • Lunch
      • ​1:00pm Sponsored presentation by Invitae
  • 1:30pm - 3:00pm
    • Evolving Guidelines/Resources to Support Variant Assessment, Moderator: Sharon Plon, Baylor College of Medicine
      • 1:30pm UK Adoption of ACMG Guidelines
        • Sian Ellard, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust
      • 1:45pm AMP Guidelines for Somatic Variants
        • Shashi Kulkarni, Baylor College of Medicine
      • 2:00pm Developing a Framework for Using Variant Frequencies to Empower Clinical Genome Interpretation
        • James Ware, Imperial College London
      • 2:15pm Selected from Abstracts Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework
        • Leslie Biesecker, National Institutes of Health
      • 2:30pm Selected from Abstracts Merging Single Gene-Level CNV with Sequence Variant Interpretation Following the ACMGG/AMP Sequence Variant Guidelines
        • Tracy Brandt, GeneDx
      • 2:45pm Q&A
  • 3:00pm - 3:30pm
    • Afternoon Break
  • 3:30pm - 5:00pm
    • ClinGen Workshop: Use of Curation Tools and Resources
  • 5:00pm - 5:30pm
    • “Rapid Fire” Platform Presentations, Selected from Abstracts, Moderator: Marc Williams
  • 5:30pm - 7:00pm
    • Posters with Authors, Refreshments sponsored by Invitae, Dupont Ballroom

Friday, June 30, 2017

  • 8:00am - 8:30am
    • Breakfast, Metropolitan Ballroom
    • Poster Removal, Dupont Ballroom
  • 8:30am - 9:30am
    • DECIPHER Workshop: Variant Interpretation and Data Sharing
  • 9:30am - 10:00am
    • Morning Break
  • 10:00am - 11:30am
    • Functional Genomics Aiding Clinical Interpretation, Moderator: Gert Matthijs, University of Leuven
      • 10:00am Making Basic Science and Functional Data Available for Human Gene and Variant Curation
        • Carol Bult, The Jackson Laboratory
      • 10:15am GTEx: Integrating RNAseq Analysis with Genetic Diagnosis
        • Kristin Ardlie, The Broad Institute of MIT and Harvard
      • 10:30am Splicing Assays for Variant Interpretation: Issues to Consider
        • Amanda Spurdle, QIMR Berghofer Medical Research Institute
      • 10:45am Selected from Abstracts Functional Annotation of Human Ion Channel Variants of Unknown Significance Using Automated Electrophysiology
        • Al George, Northwestern University Feinberg School of Medicine
      • 11:00am Selected from Abstracts Multiplex, Prospective Identification of Unstable Pathogenic Variants of Clinically Important Genes
        • Kenneth Matreyek, University of Washington
      • 11:15am Q&A
  • 11:30pm - 12:00pm
    • Closing, Helen Firth and Heidi Rehm
  • 12:00pm
    • ​Lunch, To-Go

Download CCG 2017 Program
CCG 2017 Program