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[Preprint]. 2025 Sep 9:rs.3.rs-7012425.
doi: 10.21203/rs.3.rs-7012425/v1.

Primary Care Provider Perspectives on Expanded Genomic Screening in Children

Elizabeth Kathleen Branch  1 , Megan C Roberts  2 , Margaret Waltz  1 , Neal A deJong  1 , Laura V Milko  1 , Ann Katherine M Foreman  1 , Kimberly Foss  1 , Stefanija Giric  1 , Marcella H Boynton  3 , Jonathan S Berg  1 , Samantha Schilling  1
Affiliations

Primary Care Provider Perspectives on Expanded Genomic Screening in Children

Elizabeth Kathleen Branch et al. Res Sq. .

Abstract

Objectives: Expanding pediatric genomic screening beyond current newborn screening presents both opportunities and challenges to primary care providers. We are developing a novel paradigm called Age-Based Genomic Screening (ABGS), which will incorporate targeted genomic sequencing for select, highly actionable genetic conditions into routine care at relevant time-points throughout childhood. We surveyed pediatric primary care providers in North Carolina to identify potential ABGS implementation determinants and strategies to address them.

Study design: We disseminated an electronic survey to family medicine and pediatric primary care clinicians. Survey items were modeled on constructs previously identified as important to genomic medicine and assessed perceived utility, benefits, barriers, and facilitators of implementing targeted genomic screening in pediatric primary care. Data were analyzed using descriptive statistics and content analysis, as appropriate.

Results: A total of 93 individuals completed the survey. Over 85% of respondents agreed that genomic screening was important and impactful in their patient care but about 30% lacked confidence in their ability to implement it in their practice. The most cited benefits of the ABGS program were related to readiness for implementation and the evidence, strength, and quality of the intervention. The most concerning barriers included cost for patients and available resources, with 87% and 75% of respondents having extreme or moderate concern for these barriers, respectively.

Conclusions: Our findings have implications both for the design of the ABGS pilot program and directions for future research in genomic implementation. In particular, the blueprint for the pilot program must include specific plans for ensuring primary care providers have the time and resources available for shared decision making with their patients about engaging in genomic screening.

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Conflict of interest statement

Competing interests: The authors declare that they have no competing interests

Figures

Figure 1
Figure 1
CFIR domains and constructs represented by survey questions
Figure 2
Figure 2
ERIC clusters and strategies represented by survey questions
See this image and copyright information in PMC

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