Curating the Clinical Genome 2019

Conference ~ May 29 2019 to May 31 2019 

Co-hosted by ClinGen and DECIPHER, the Curating the Clinical Genome conference will be of interest to a wide group of medical genomics researchers, clinicians practicing genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing.

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Wednesday, May 29 

  • 4:00 pm Registration Open 
  • 6:00 pm Welcome Session 
    • Introduction Erin Ramos, PhD, MPH, National Human Genome Research Institute 
    • National Human Genome Research Institute Strategic Planning Eric Green, MD, PhD, Director, National Human Genome Research Institute 
  • 7:00 pm Reception Sponsored by GeneDx 

Thursday, May 30 

  • 8:00 am Breakfast/Registration Open 
    • 8:20 Congenica Sponsored Presentation
  • 8:30 am Welcome and Introduction Christa Martin, PhD (CCG 2019 Program Committee Chair) 
  • 8:45 am ClinGen FDA Recognition Julianne O’Daniel, MS, CGC
  • 9:00 am Next Generation Phenotyping Moderator: Helen Firth, DM
    • HPO Integration Peter Robinson, MD, MS, The Jackson Laboratory 
    • Use of Digital Biomarkers with Genomic Data Evan Muse, MD, Scripps Research Translational Institute 
    • Using Semantic Similarity Analysis Based on Human Phenotype Ontology Terms to Identify Genetic Etiologies for Epilepsy and Neurodevelopmental Disorders* Ingo Helbig, MD, Children’s Hospital of Philadelphia 
  • 10:05 am Break 
  • 10:25 am Sequence and Copy Number Variant Interpretation Moderator: Caroline Wright, PhD
    • Economics of Variant Reinterpretation Christine Lu, MS, PhD, Harvard Medical School 
    • Penetrance in UK Biobank Michael Weedon, PhD, University of Exeter 
    • Is Likely Pathogenic Really 90% Likely? A Look at the Data* Steven Harrison, PhD, Broad Institute 
    • Establishing an Intralaboratory Copy Number Variant Conflict Resolution Process Using ClinGen Dosage Sensitivity Map Scores and Internal Classification Discrepancies to Improve Retrospective Data Analyses and Submissions to ClinVar* Zoe Lewis, MS, CGC, ARUP 
    • Constructing a Quantitative Metric for Evaluating the Clinical Significance of Recurrent Copy Number Variants* John Herriges, PhD, Children’s Mercy Hospital 
  • 12:00 pm Lunch 
    • 12:30 GeneDx Sponsored Presentation
    • 12:40 Invitae Sponsored Presentation
    • 12:50 Agilent Technologies Sponsored Presentation
    • 1:00 Illumina Sponsored Presentation
  • 1:45 pm Polygenic Risk Scores in the Clinic, Moderator: David Ledbetter, PhD
    • Cardiovascular Polygenic Risk Scores Amit Khera, MD, Massachusetts General Hospital 
    • The Polygenic Contribution to Developmental Disorders Mari Niemi, PhD, Wellcome Sanger Institute 
    • Genomics as a Personalized Medicine Approach in Disease Risk Prediction - P5.fi FinHealth* Heidi Marjonen, PhD, National Institute for Health and Welfare, Helsinki, Finland 
  • 3:00 pm Data Sharing Moderator: Danielle Azzariti, MS, CGC 
    • Count Me In Corrie Painter, PhD, Broad Institute 
    • Care4Rare Kym Boycott, MD, PhD, Children’s Hospital of Eastern Ontario 
    • ClinGen Linked Data Hub: Scalable Aggregation of Diverse Types of Variant Information to Support Pathogenicity Assessment* Aleksandar Milosavljevic, PhD, Baylor College of Medicine 
    • DECIPHER – Innovation in Data-sharing in Rare Disease*  Helen Firth, DM, Wellcome Trust Sanger Institute, Cambridge University Hospitals NHS Foundation Trust 
  • 4:20 pm Break 
  • 4:45 pm Rapid Platform Session Moderator: Marc Williams, MD
  • 5:15 pm Reception and Poster Session Sponsored by Illumina 

Friday, May 31 

  • 7:30am Breakfast 
  • 8:00am Developing Sustainable Partnerships 
    • Panel Discussion
    • Methodical Curation of the Human Genome: Challenges and Progress in Establishing an Objective, Consistent, and Scalable Process in a Clinical Laboratory* Jackie Tahiliani, MS, CGC, Invitae
    • Improving Efficiency of Gene Curation to Support Reporting In a Clinical Laboratory Setting* Sarah Schmidt, MS, Illumina Clinical Services Laboratory 
  • 9:30am Gene Curation Moderator: Laura Milko, PhD
    • Gene Curation for the Interpretation of Clinical Genomes and the Future of PanelApp Ellen McDonagh, PhD, Genomics England 
    • Citizen Scientists Participation and Contribution to Gene Curation Andrew Su, PhD, Mark2Cure, The Scripps Research Institute 
    • The Gene Curation Coalition: A Global Effort to Harmonize Gene-level Resources* Marina DiStefano, PhD, Harvard Medical School 
    • Transcript Curation for the Clinical Use Case: LRG and MANE* Joannella Morales, PhD, European Molecular Biology Laboratory, European Bioinformatics Institute 
  • 10:55 Break 
  • 11:15am Hereditary and Somatic Cancer Moderator: Sharon Plon, MD, PhD
    • CRISPR Engineered BRCA1 Variants Lea Starita, PhD, University of Washington 
    • Somatic Variant Curation Standards Enable Improved Identification of Relevant Clinical Interpretations for Tumor Variants* Alex Wagner, PhD, Washington University School of Medicine 
    • Implementation and Cases Studies of Tumor Whole-Genome Sequencing within Pediatrics Precision Medicine at MSKCC* Dominik Glodzik, PhD, Memorial Sloan Kettering Cancer Center 
  • 12:10pm Population Screening Moderator: Sian Ellard, PhD 
    • Implementing Universal Lynch Syndrome Screening Alanna Rahm, PhD, MS, Geisinger 
    • Estonia Familial Hypercholesterolemia Screening Tõnu Esko, PhD, University of Tartu 
  • 1:00pm Closing Helen Firth, DM 
  • 1:15pm Lunch to Go 

*Selected from Abstracts