Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries

The Southern Asia group exhibited the lowest test sensitivity and the highest post-test residual carrier risk, surpassing that of the Northern Europe group. The inclusion or exclusion of VCC significantly impacted the calculated test sensitivities. Further research is suggested to better characterise <i>CFTR</i> variants in non-European ancestry groups and to determine which VCC, if any, should be included in carrier screening reports.