Interpretation of CFTR genetic test result in an asymptomatic adult

CFTR: cystic fibrosis transmembrane conductance regulator; VUS: variant of uncertain significance; CF: cystic fibrosis.

* Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis.

¶ VUS lacks sufficient information from clinical and bench research to be classified as pathogenic or benign. Patients with a VUS should seek updated interpretation to inform future pregnancies.

Δ Asymptomatic patients with two copies of a pathogenic or likely pathogenic variant should be evaluated at a certified CF center. Occasionally, individuals with one or two variants are thought to be asymptomatic because they do not have classic CF symptoms. However, on further review, they have a single feature associated with CF (eg, male infertility, absence of the vas deferens, nasal polyps, recurrent pancreatitis). Such patients should be referred to the appropriate medical subspecialist at a CF center for evaluation.

◊ Since CF is an autosomal recessive disorder, CF in any individual related by blood is considered a positive family history.