Objective:

In this study, we aimed to understand pediatrics clinicians' perspectives on barriers, facilitators, and ideas for interventions regarding their integration in disclosing positive NBS results for Krabbe disease. 

Background:

In 2024, the U.S. Department of Health and Human Services added infantile Krabbe disease to the Recommended Uniform Screening Panel for Newborn Screening (NBS). Families have previously expressed wanting their established general outpatient pediatrics clinicians involved in disclosure of NBS results but have also expressed dissatisfaction with the process of disclosure.

Design/Methods:

We conducted individual semi-structured interviews with clinicians in general outpatient pediatrics (including physicians and advanced practice providers) in Western Pennsylvania. Interviews were audio-recorded and transcribed. Two coders used content analysis to code transcripts and identify themes with representative quotations. Themes were mapped to levels of the Consolidated Framework for Implementation Research. 

Results:

Twenty-five clinicians participated. Barriers, facilitators, and ideas for interventions spanned the individual level, inner setting, and outer setting of the Consolidated Framework for Implementation Research. Selected barriers included: limited clinician knowledge of Krabbe disease, time in the clinical schedule, and accessibility of specialists. Selected facilitators included: prior clinical training in communicating serious diagnoses, protected time for Continuing Medical Education activities, and trustworthy online medical resources. Selected ideas for interventions included: fact sheets/scripts/algorithms for clinicians; integration of clinician education with NBS result notifications; and improvements in care coordination with specialists. 

Conclusions:

Clinicians in primary care pediatrics identified barriers, facilitators, and ideas for interventions spanning multiple levels of the Consolidated Framework for Implementation Research. Identified targets may inform development of interventions in this area including professional training, patient education, and health systems improvements.