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Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers,
Laura Kirkpatrick1, Erin Friel2, Gysella Muniz3
1Departments of Pediatrics and Neurology, University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA. laura.kirkpatrick2@chp.edu.
Insights
Pediatricians face challenges sharing Krabbe disease newborn screening (NBS) results due to time and knowledge gaps. Improved communication tools, accessible education, and specialist care coordination are key to facilitating their involvement.
Area of Science:
- Genetics and Rare Diseases
- Public Health and Newborn Screening
- Pediatric Clinical Practice
Background:
- Infantile Krabbe disease was added to the Recommended Uniform Screening Panel for Newborn Screening (NBS) in 2024.
- Families desire their pediatricians to be involved in communicating NBS results.
- Understanding clinician perspectives is crucial for effective implementation.
Purpose of the Study:
- To explore pediatric clinicians' views on barriers and facilitators to their involvement in sharing positive NBS results for Krabbe disease.
- To identify potential interventions to support pediatricians in this role.
Main Methods:
- Semi-structured interviews were conducted with 25 general outpatient pediatric clinicians in Western Pennsylvania.
- Content analysis was used to identify themes related to barriers, facilitators, and intervention ideas.
- Themes were mapped using the Consolidated Framework for Implementation Research.
Main Results:
- Key barriers included limited clinician knowledge of Krabbe disease, time constraints, and specialist accessibility.
- Facilitators comprised prior training in serious diagnosis communication, protected CME time, and reliable online resources.
- Intervention ideas focused on clinician aids (fact sheets, scripts), integrated education, and enhanced care coordination.
Conclusions:
- Pediatricians identified time, knowledge, and specialist access as barriers to communicating Krabbe disease NBS results.
- Communication tools, accessible training/information, and streamlined specialty care coordination would aid pediatrician involvement.
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.
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