Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.

BACKGROUND

Newborn screening (NBS) for cystic fibrosis (CF) was universally implemented in the United States in 2010 to improve disease outcomes. Despite universal screening, disparities in outcomes currently exist between people with CF (PwCF) with Black/African, Asian, Indigenous, and Latino/Hispanic ancestry in comparison to PwCF of European ancestry. This is in part because CFTR panels used for newborn screening are often based on variants common in European ancestries leading to higher rates of false negatives for PwCF from minoritized racial and ethnic groups.

METHODS

This study investigated how states evaluate and update their CFNBS algorithms through semi-structured interviews with professionals from four states with ethnically diverse populations and one national consultant. Interviews were transcribed verbatim and analyzed through inductive thematic analysis.

RESULTS

Five themes were identified encompassing facilitators, barriers, and motivations for evaluating and updating CF NBS algorithms. Facilitators of effective evaluation and updating of algorithms included effective communication with CF clinical centers and extensive support for CF as compared to other conditions. Although participants stated that their respective NBS programs were aware of the disparate impact of their CF panels on PwCF from minoritized racial and ethnic groups, motivations to decrease this disparity were hampered by a range of funding and logistical barriers, such as limited information about false negative cases and difficulties incorporating next generation sequencing technology.

CONCLUSIONS

This study shed light on the experiences of states considering alterations to their CFNBS panels, revealing several key barriers and facilitators to implementing equitable CFNBS algorithms.