Orphanet journal of rare diseases · 2026
Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions.
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Kirkpatrick Laura, Friel Erin, Muniz Gysella, Chang Judy C, Rajan Deepa S
Аннотация
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 sharing NBS results. In this study, we aimed to understand pediatrics clinicians' perspectives on barriers, facilitators, and ideas for interventions regarding their involvement in sharing positive NBS results for Krabbe disease.
METHODS: We conducted individual semi-structured interviews with clinicians (physicians and advanced practice providers) in general outpatient pediatrics in Western Pennsylvania. Interviews were audio-recorded and transcribed. Two coders performed content analysis, coding transcripts, and identifying themes with representative quotations. Themes were mapped to 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. Barriers included: limited clinician knowledge of Krabbe disease, time in the clinical schedule, and accessibility of specialists. Facilitators included: prior clinical training in communicating serious diagnoses, protected time for Continuing Medical Education activities, and trustworthy online medical resources. 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: While primary care pediatrics noted lack of time, knowledge, and access to specialists as barriers to sharing Krabbe disease newborn screening with families, they highlighted that communication tools/tips, easy training or access to disease information, and assistance coordinating specialty care would facilitate their involvement.
METHODS: We conducted individual semi-structured interviews with clinicians (physicians and advanced practice providers) in general outpatient pediatrics in Western Pennsylvania. Interviews were audio-recorded and transcribed. Two coders performed content analysis, coding transcripts, and identifying themes with representative quotations. Themes were mapped to 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. Barriers included: limited clinician knowledge of Krabbe disease, time in the clinical schedule, and accessibility of specialists. Facilitators included: prior clinical training in communicating serious diagnoses, protected time for Continuing Medical Education activities, and trustworthy online medical resources. 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: While primary care pediatrics noted lack of time, knowledge, and access to specialists as barriers to sharing Krabbe disease newborn screening with families, they highlighted that communication tools/tips, easy training or access to disease information, and assistance coordinating specialty care would facilitate their involvement.