Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.

Abstract

Introduction: As genomic technologies and therapies advance, paired with increasing clinical knowledge and declining sequencing cost, the scope of DNA-based preventive pediatric screening is expected to expand. Age-Based Genomic Screening (ABGS) is an approach that proposes to integrate targeted genomic sequencing for highly actionable genetic conditions into routine well-child care at specific time points aligned with optimal interventions. Prior to the clinical implementation of ABGS in pediatric primary care, however, it is necessary to investigate the factors that may affect its adoption.

Methods: We conducted 20 interviews with providers from 11 clinics across North Carolina. Interviews lasted approximately 45 minutes, and rapid qualitative analysis was conducted using an analytic matrix.

Results: Interviewees stated that, in general, implementation of ABGS would be feasible but identified several barriers, including providers' potential discomfort discussing genomic screening and returning results as well as broader concerns about the potential to exacerbate health disparities. Providers also noted potential challenges impacting interest from patients and families, such as caregiver anxiety while awaiting results, patient apprehension regarding invasive sample collection methods (like blood draws), and a general lack of trust in government and medical institutions.

Conclusion: While ABGS was viewed as feasible, the identified barriers emphasize the importance of piloting this approach, particularly in terms of potential exacerbation of health disparities. These findings are useful to guide early development and assessment of efforts like ABGS and may also be applicable to broader integration of genomic screening into primary care.