Thursday, November 7, 2019 |
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SCIENTIFIC INFORMATION |
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10:00am - 11:30am |
CONCURRENT SYMPOSIACriminal Investigations & ForensicsRapid DNA: From Research to Field Amanda Sozer, PhD, SNA International, Washington, DC, USA Forensic DNA Testing at the Crossroads of Science, Law, and Policy Frederick Bieber, PhD, Harvard Medical School, Boston, MA, USA Basics of Genetic Genealogy and Its Impact on Forensic Investigation Howard Cash, Gene Codes Corporation, Ann Arbor, MI, USA |
12:45pm - 2:00pm |
BREAKOUT SESSIONSState of PharmacogeneticsClinical Implementation of Pharmacogenomics Philip Empey, PharmD, PhD, University of Pittsburgh, UPMC, Pittsburg, PA, USA What’s New in Pharmacogenetics? Victoria M. Pratt. PhD, Indiana University School of Medicine, Indianapolis, IN, USA |
Friday, November 8, 2019 |
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SCIENTIFIC INFORMATION |
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7:00am - 8:00am |
TARGETED TOPICSBlood Bank & HLABlood Group Genotyping from High Density Arrays to Whole Genomes Bill Lane, MD, PhD, Brigham and Women's Hospital, Boston, MA, USA |
8:15am - 9:45am |
SYMPOSIA SESSIONCarrier Screening: The Good, The Bad, and The UglyThe Limitations and Consequences of Ethnicity-specific Guidelines for Carrier Screening Dale Muzzey, PhD, Myriad Women's Health, Inc., San Francisco, CA, USA Current Complexities and Future Directions of Expanded Carrier Screening Nicole Faulkner, PhD, FACMGG, Invitae Corporation, San Francsico, CA, USA Technological Advances and Detections Rates: Demystifying the Influence of Ethnicity on Carrier Detection and Residual Risk Lisa Edelmann, PhD, Sema4, New York, NY, USA |
10:45am - 12:15pm |
CONCURRENT SPECIAL SESSIONSHands-on Workshop: Variant Interpretation & ClassificationMark Routbort, MD, PhD, University of Texas MD Anderson Cancer Center, Houston, TX, USA |
1:30pm - 2:45pm |
BREAKOUT SESSIONSCell-Free DNA Testing for Autosomal Dominant DisordersNon-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders using Circulating Cell-free Fetal DNA Shashikant Kulkarni, PhD, FACMG, Baylor College of Medicine, Houston, TX, USA Prenatal Diagnosis: The Next Generation Mark Evans, MD, Comprehensive Genetics, New York, NY, USA New Players in Reimbursement: Laboratory Benefit Managers(Sponsored by the AMP Economic Affairs Committee)Panel Discussion Geoff Baird, MD, PhD, UW Medicine, Seattle, Washington, USA Trish Brown, MS, LCGC, Illumina, Inc., San Diego, CA, USA Heather Agostinelli, Xifin, Inc., San Diego, CA, USA |
Saturday, November 9, 2019 |
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SCIENTIFIC INFORMATION |
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7:00am - 8:00am |
TARGETED TOPICSA Review of FGFR Related Inherited DisordersThe Skeletal Dysplasias; the Long and Short of It Deborah Krakow, FACMG, UCLA School of Medicine, Los Angeles, CA USA |
8:15am - 9:45am |
CONCURRENT SYMPOSIA SESSIONSIncidental Findings from Somatic Testing/Cancer PredispositionsApproaches to Returning Germline Results in an Era of Agnostic Cancer Predisposition Testing Michael F. Walsh, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA The Evolving Landscape of Clinical Genomic Testing: Elective Genome Sequencing Birgit Funke, Dr, Veritas Genetics, Newton, MA, USA What to Expect When You Find the Unexpected: Pregnancy and Incidental Findings in Noninvasive Prenatal Screening Susan Hancock, MS, Myriad Women's Health, Salt Lake City, UT, USA |
1:30pm - 2:45pm |
BREAKOUT SESSIONSPlatform Presentations of Selected Abstracts Abstracts are selected by the Program Committee Platform Presentations of Selected Genetics AbstractsG008 - Germline RAD51B loss-of-function variants confer susceptibility to hereditary breast and ovarian cancers and result in homologous recombination deficient tumors Diana Mandelker, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA G014 - A framework of critical considerations in interpretation of NGS based tests for germline disorders - On Behalf of CLSI Document Development Committee (DDC) on Nucleic Acid Sequencing (MM09) Avni Santani, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA G023 - Integrated Germline and Somatic Analysis Identifies Actionable Cancer Predisposing Germline Mutations in 9,734 Patients with Advanced Cancers Liying Zhang, MD, PhD, Memorial Slone Kettering Cancer Center, New York, NY, USA G036 - Significance Associated with Phenotype (SAP) Score – A Method for Ranking Genes and Genomic Regions Based on Sample Phenotype Jianling Ji, MD, MS, Children's Hospital of Los Angeles, South Pasadena, CA, USA G010 - A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway-Focused Functional Assay Sarah Brnich, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA |