Inherited Conditions


Thursday, November 7, 2019


10:00am - 11:30am


Criminal Investigations & Forensics

Rapid 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


State of Pharmacogenetics

Clinical 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


7:00am - 8:00am


Blood Bank & HLA

Blood 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


Carrier Screening: The Good, The Bad, and The Ugly

The 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


Hands-on Workshop: Variant Interpretation & Classification

Mark Routbort, MD, PhD, University of Texas MD Anderson Cancer Center, Houston, TX, USA


1:30pm - 2:45pm


Cell-Free DNA Testing for Autosomal Dominant Disorders

Non-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


7:00am - 8:00am


A Review of FGFR Related Inherited Disorders

The Skeletal Dysplasias; the Long and Short of It

Deborah Krakow, FACMG, UCLA School of Medicine, Los Angeles, CA USA


8:15am - 9:45am


Incidental Findings from Somatic Testing/Cancer Predispositions

Approaches 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


Platform Presentations of Selected Abstracts

Abstracts are selected by the Program Committee

Platform Presentations of Selected Genetics Abstracts

G008 - 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