Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation

Abstract

Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child’s routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition. Ongoing partnerships with parents and providers are instrumental to the co-creation of educational resources and strategies to address potential implementation barriers. Implementation science frameworks and informative empirical data are used to evaluate strategies to establish this unique clinical application of targeted genomic sequencing. Ultimately, a pilot project conducted in primary care pediatrics clinics will assess patient and implementation outcomes, parent and provider perspectives, and the feasibility of ABGS. A validated, stakeholder-informed, and practical ABGS program will include hundreds of conditions that are actionable during infancy and childhood, setting the stage for a longitudinal implementation that can assess clinical and health economic outcomes.

Community Collaboration in Public Health Genetic Literacy: Co-Designing Educational Resources for Equitable Genomics Research and Practice

“…The Age Based Genomic Screening (ABGS) study, funded by the National Human Genome Research Institute and led by researchers at the University of North Carolina at Chapel Hill (UNC), seeks to integrate targeted genomic screening into routine pediatric well-child visits. At the core of the design and development of the ABGS study is a robust commitment to community partnership throughout its duration, along with the application of models and framework from Dissemination and Implementation (D&I) science with the goal of enhancing access and equity across diverse settings [31].…”