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.
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