Abstract
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.
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)
