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SCI-5 Understanding the Genome: Professional Guidelines in Clinical Genomic Testing and Interpretation

Program: Scientific Program
Session: Next-Generation Sequencing in Routine Diagnostics: Are We There Yet?
Hematology Disease Topics & Pathways:
Mechanisms, Technology and Procedures, genomics, genetic testing, NGS
Saturday, December 9, 2017, 7:30 AM-9:00 AM
Bldg A, Lvl 4, A411-A412 (Georgia World Congress Center)
Sunday, December 10, 2017, 9:30 AM-11:00 AM
Bldg C, Lvl 3, Georgia BR 1-3 (Georgia World Congress Center)

Elaine Lyon, PhD

Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Pathology Department, University of Utah, Salt Lake City, UT

The rapid evolution of genomic testing gives new meaning to the term “high-complexity testing.” Variant classification is clearly challenging, but with the aid of American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) professional guidelines for combining evidence used in conjunction with national efforts, laboratories may be better able to standardize and establish quality metrics. Additionally, guidelines for evaluating types of evidence and interpreting sequence variations have been developed. This session will review these guidelines to address expectations of data quality, as well as elements of reporting identified variants and their interpretations. Efforts by the molecular community to address consistency in using these guidelines will also be shown. The objectives of this presentation are to list technical guidelines for genomic sequencing to ensure quality data, to describe evidence used to classify variants, and to identify variability in how evidences are used.

Disclosures: Lyon: Complete Genomics: Consultancy; Korean Society for Medical and Molecular Genetics: Honoraria; Association for Molecular Pathology: Honoraria; American College of Medical Genetics and Genomics: Membership on an entity's Board of Directors or advisory committees.