Primary Care Provider Perspectives on Expanded Genomic Screening in Children

Area of Science:

• Genomic Medicine
• Pediatric Primary Care
• Implementation Science

Background:

• Expanding pediatric genomic screening beyond newborn screening presents implementation challenges for primary care providers.
• A novel Age-Based Genomic Screening (ABGS) paradigm aims to integrate targeted genomic sequencing for actionable conditions into routine childhood care.
• Understanding provider perspectives is crucial for successful ABGS implementation.

Purpose of the Study:

• To identify determinants and strategies for implementing Age-Based Genomic Screening (ABGS) in pediatric primary care.
• To assess primary care providers' perceptions of genomic screening utility, benefits, barriers, and facilitators.
• To inform the design of a pilot ABGS program and future genomic implementation research.

Main Methods:

• An electronic survey was distributed to family medicine and pediatric primary care clinicians in North Carolina.
• Survey items assessed perceived utility, benefits, barriers, and facilitators of targeted genomic screening.
• Data were analyzed using descriptive statistics and content analysis.

Main Results:

• Over 85% of 93 respondents found genomic screening important, yet 30% lacked implementation confidence.
• Readiness, evidence, strength, and quality were cited as key program benefits.
• Patient cost (87% concern) and available resources (75% concern) were the most significant barriers.

Conclusions:

• Findings highlight the need for specific plans addressing provider time and resources for shared decision-making in ABGS.
• The pilot program design must incorporate strategies to overcome identified barriers.
• Future research should focus on practical implementation strategies for genomic screening in pediatric primary care.