Cystic Fibrosis Screen-Positive Neonates with One Pathogenic Variant
Still Warrant Sweat Testing
Abstract
We believe that the data in this letter clearly demonstrate that even
with CFTR2 expansion to 719 variants, striving to achieve equity of
early diagnosis of CF via screening requires states to perform a sweat
test in all infants with a high IRT level and one identified CFTR
variant. This recommended policy can be debated but sweat testing
overload should not be the argued as the barrier and CF specialists need
to recognize that CFTR2 may never include all of the very rare,
“private” pathogenic variants nor will next generation sequencing
cover the structural variants such as deletions and duplications.