The Wadsworth Center’s Newborn Screening Program began screening for cystic fibrosis (CF) in 2002. Cystic fibrosis is a chronic and progressive genetic disorder that affects the lungs, pancreas, and other organs. Symptoms include failure to thrive, malabsorption, recurrent respiratory infections, wheezing, persistent cough, and male infertility. Newborn screening facilitates early diagnosis and treatment, which is associated with improved health outcomes.
The initial cystic fibrosis screening algorithm in New York utilized a first-tier biochemical screen for immunoreactive trypsinogen (IRT), followed by targeted second-tier genotyping for a panel of 31 recurrent cystic fibrosis transmembrane regulator gene (CFTR) variants in infants with elevated immunoreactive trypsinogen.
The program is recognized as a leader in cystic fibrosis newborn screening, and has made significant improvements to the screening algorithm, including increasing the number of variants genotyped from 31 to >1,000, implementing gene sequencing, and optimizing referral practices. Algorithm changes have resulted in a reduction of the screen-positive referral rate by more than 90% and an increase in the positive predictive value for screening by >6-fold.
In 2017, New York State became the second program in the U.S. to implement gene sequencing as part of the screening algorithm, and the first in the U.S. to utilize next generation sequencing performed in-house, by the Wadsworth Center’s Advanced Genomic Technologies Cluster (AGTC), rather than by send-out to a contract lab. Including gene sequencing analysis is important because it allows detection of rare, cystic fibrosis-causing variants not targeted by the second-tier panel, maximizing equitable identification of infants with cystic fibrosis in underrepresented populations.
A manuscript describing the evolution of the screening algorithm has been recently published.
Langfelder-Schwind E, Kay DM, Berdella M, DeCelie-Germana JK, Soultan ZN, Goetz DM, Fortner CN, Welter JJ, Giusti R, Voter K, Kaslovsky R, Saavedra-Matiz CA, Tavakoli NP; New York State Cystic Fibrosis Newborn Screening Consortium; Caggana M, Sadeghi H, Kier C. Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience. Pediatr Pulmonol. 2026 May;61(5):e71650. doi: 10.1002/ppul.71650. PMID: 42068287.