The Cystic Fibrosis Foundation — along with external subject matter experts, clinical partners, and parents of children with CF — has established a newborn screening initiative to assess and improve equity, sensitivity, and timeliness in CF newborn screening to achieve nationwide better (or best) practices and improve health outcomes for all. Foundation leadership will present an abstract of its work on behalf of the committee at the upcoming Association of Public Health Labs Newborn Screening Symposium Oct. 16-20, 2022.
Cystic fibrosis has been included in newborn screening universally since 2010. An essential diagnostic tool, newborn screening for CF can trigger early intervention to stave off early disease progression, keeping a child as healthy as possible. A 2022 study published in JAMA Pediatrics showed newborn screening for cystic fibrosis in the United States is associated with improved nutritional status up to age 10 years, a more rapid increase in lung function, and delayed chronic Pseudomonas aeruginosa infection.1
However, each state has different processes for CF newborn screening. The variations include how well the screen performs in identifying newborns with CF, how soon after birth a screen is completed, when the results are reported, when follow-up is completed, and treatment is initiated. All these variations have the possibility to introduce discrepancies that widen the disparities in treatment, care, and outcomes over time.
There is also a discrepancy regarding which mutations are screened for in which states. For example, two states test only for the most common disease-causing mutations while other states and regions use panels that test anywhere between 23 and 365 mutations. This can be detrimental to those living with rarer mutations, including the 15% of people living with CF who identify as racially and ethnically diverse. Many of these individuals have had to advocate for a proper diagnosis well beyond the newborn stage.
The Foundation’s initiative aims to improve universal newborn screening nationwide by:
Assessing state-level processes to map differences between how cystic fibrosis is screened, what mutations are part of the screening panel, and the steps that are taken after an inconclusive test is returned.
Addressing the differences between which mutations each state screens.
Strengthening partnerships between those who conduct newborn screening and CF care providers.
Overcoming bias in the health care system around disease susceptibility based on race or ethnicity to lessen incidences of delayed or missed diagnoses in babies of color.
The CF Foundation recently released a request for applications aimed at improving equity around newborn screening, promoting multi-CF care center collaboration with state screening labs. The initiative’s steering committee will also author a consensus guideline outlining best practices to support screening improvements, with the goal that these recommendations will have a ripple effect in other diseases.
1 Rosenfeld M, Ostrenga J, Cromwell EA, Magaret A, Szczesniak R, Fink A, Schechter MS, Faro A, Ren CL, Morgan W, Sanders DB. Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes. JAMA Pediatr. 2022 Aug 1:e222674. doi: 10.1001/jamapediatrics.2022.2674. Epub ahead of print. PMID: 35913705; PMCID: PMC9344390.