DG19--Everything You Ever Wanted to Know (& more!) About CFTR Variant Interpretation

Genetic testing is a critical aspect of the CF diagnostic workup. Variant interpretation is an essential, yet often challenging and ambiguous, component of the genetic testing process. In this session, we will explore how laboratories classify variants utilizing the framework derived from the American College of Medical Genetics and Genomics (ACMG), use available resources and datasets, and convey information to the ordering provider. Despite widespread use of the ACMG variant classification framework among clinical testing laboratories, discrepant classifications and inconclusive results are common. This session will review the ACMG methodology and the relationship to overall genetic test interpretation. CFTR-specific considerations will be discussed, as well as a review of additional resources for future genetic test interpretation resolution, such as novel technologies and ClinGen expert panel working groups. The CF Mutation Analysis Program (MAP) will be highlighted in the context of unique methodology and interpretation considerations for this specialty testing program. This session will also contain an interactive live walkthrough of the variant interpretation process.