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