Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Abstract

Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

“…CF carrier testing has the potential to cause psychological harms as well as benefits; genetic counselling, to manage the effect of such harms, is therefore an important component of clinical practice. 23 These harms may influence relatives' decisions about carrier testing and therefore may explain to some extent the relatively low uptake of carrier testing that we report. Further investigation of the influences on relatives' decisions about carrier testing is needed.…”

Newborn Screening for Cystic Fibrosis in California

“…These aforementioned methods meet or exceed implementation, design, and reporting guidelines for CF NBS programs. 14 SCT results and diagnostic and clinical follow-up data are collected from CFCs via GDSP's secure, online screening information system. SCTs are performed by CFF-accredited laboratories according to current standards 15 and guidelines.…”

Biochemical and Molecular Genetic Testing Used in the Diagnosis and Assessment of Cystic Fibrosis

“…After an abnormal IRT value is identified, most NBS programs perform DNA testing to identify known CFTR gene mutations (IRT/DNA strategy), while other programs repeat the IRT measurement in a second blood sample obtained from the infant at age approximately 2 weeks (IRT/IRT strategy) (Comeau et al, 2007). These strategies have been reported to provide approximately 90% to 95% sensitivity (Wilcken et al, 1995) and have identified newborns at risk for a wide spectrum of disease severity .…”