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

Area of Science:

• Public Health
• Genetics
• Medical Screening

Background:

• Universal newborn screening (NBS) for cystic fibrosis (CF) was implemented in the US in 2010.
• Disparities in CF outcomes persist among racial and ethnic minority groups compared to European ancestry.
• Current CFTR panels for NBS often miss variants prevalent in minoritized populations, leading to false negatives.

Purpose of the Study:

• To investigate how states evaluate and update their CF NBS algorithms.
• To identify facilitators, barriers, and motivations influencing these updates.
• To understand the process of implementing more equitable CF NBS panels.

Main Methods:

• Semi-structured interviews were conducted with professionals from four diverse states and one national consultant.
• Interviews were transcribed verbatim.
• Inductive thematic analysis was used to analyze the interview data.

Main Results:

• Five themes emerged regarding the evaluation and updating of CF NBS algorithms.
• Effective communication with CF clinical centers and strong support for CF care were identified as facilitators.
• Barriers included limited data on false negatives and challenges integrating next-generation sequencing, despite awareness of disparities.

Conclusions:

• States face significant barriers, including funding and logistics, when attempting to update CF NBS panels for greater equity.
• Facilitators for updating algorithms involve strong clinical partnerships and institutional support.
• Understanding these experiences is crucial for developing more equitable CF NBS algorithms.