This session is designed to provide an overview of CF genetics, test interpretation, and genetic counseling. Practical information about interpreting DNA test results, difficult case presentations and how to label them, significance of mutations in regards to symptoms/treatment, classification and registry documentation, and patient/family resources in regards to genetic testing results will allow clinicians to develop useful tools for their practice.
Summarize types of CFTR genetic variants, describe how they may impact disease severity, and identify educational resources available to patients and families regarding CF genetics.
Evaluate whether there is appropriate use of the CRMS/CFSPID diagnosis within your clinic and employ skills to manage uncertainty and expectations for these patients and families.
Explain the role of CF modifier genes in the disease process and examine the utility of CF modifier identification in a clinical or research setting.