The Newborn Screening Program at the Wadsworth Center has been awarded a two-year Cystic Fibrosis Foundation Screening Improvement Program (SIP) grant titled CF-GENES-II: Improving Genetic Counseling Access for Caregivers of Infants with Cystic Fibrosis Newborn Screen-Positive, Inconclusive Diagnosis in New York State.
The Wadsworth Center screens every infant born in New York State for cystic fibrosis (CF). Infants with positive screening results are referred to one of the state’s specialty care centers for diagnostic testing, clinical evaluation, treatment, and follow-up.
Cystic fibrosis is a chronic, progressive genetic disorder affecting the lungs, pancreas, and other organs. Common symptoms include failure to thrive, recurrent respiratory infections, wheezing, persistent cough, chronic sinus disease, and male infertility. Early detection through newborn screening enables timely intervention and improves long-term health outcomes.
Although genetic counseling is recommended for all families of screen-positive infants, the Newborn Screening Program identified substantial variability in counseling access across the state. The new SIP award aims to increase the proportion of caregivers who receive genetic counseling following a positive CF newborn screening result or a designation of CFTR-related metabolic syndrome/cystic fibrosis screen-positive, inconclusive diagnosis (CRMS/CFSPID). These infants often present with complex or uncertain prognoses, making high-quality genetic counseling essential.
Through this project, caregivers of screen-positive infants will be offered consultation with a trained genetic counselor as part of standard care. The team will also assess and address factors that influence access to counseling services statewide.
The project is funded by the Cystic Fibrosis Foundation and involves collaboration with 10 cystic fibrosis specialty care centers across New York State. The principal investigator is Dr. Denise Kay, PhD, Director of the Newborn Screening Program.