CFTR CARRIER SCREENING

Cystic fibrosis transmembrane conductance regulator (CFTR) carrier screening is a genetic testing approach used to identify individuals who carryvariants associated with cystic fibrosis, an inherited disorder that affects multiple organs, particularly the respiratory and digestive systems. Carrierscreening is relevant to reproductive planning because two carriers of disease-causing CFTR variants may have a risk of having an affected child. Thispaper reviews the biological basis of CFTR-related disease, the role of carrier screening, commonly used testing approaches, interpretation of results,and ethical considerations. It also proposes an information-management workflow suitable for an educational technology project: consent and intake,test-order tracking, secure result handling, interpretation support, and referral to qualified genetics professionals. The workflow is not a diagnosticsystem and cannot replace laboratory testing or genetic counselling. Screening performance depends on the variants covered, the test method,ancestry-related variant frequencies, and the clinical context. The paper emphasizes informed consent, privacy, residual risk after a negative result, andthe need for professional interpretation