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

Area of Science:

• Genomics
• Medical Genetics
• Implementation Science

Background:

• Genomic sequencing holds promise for detecting inherited variants in rare Mendelian disorders.
• Challenges exist in applying genome-scale sequencing routinely in the general population.
• Current genetic screening methods may not be optimized for timely intervention in childhood conditions.

Purpose of the Study:

• To introduce and evaluate the age-based genomic screening (ABGS) approach as an alternative to early genome-scale sequencing.
• To determine the optimal timing for genetic screening based on condition onset and intervention availability.
• To assess the feasibility and outcomes of implementing ABGS in primary care pediatrics.

Main Methods:

• ABGS utilizes a metric for clinical actionability combined with age of onset and intervention data.
• Partnerships with parents and providers are key for co-creating educational resources and addressing barriers.
• Implementation science frameworks and empirical data guide strategy evaluation.
• A pilot project in primary care pediatrics will assess patient and implementation outcomes, stakeholder perspectives, and feasibility.

Main Results:

• The ABGS approach aims to deliver highly actionable genetic information to parents during routine pediatric care.
• ABGS identifies conditions with high clinical utility and determines optimal screening intervals.
• Pilot study results will inform the development of a validated, stakeholder-informed ABGS program.

Conclusions:

• ABGS presents a practical, targeted genomic sequencing strategy for identifying actionable childhood genetic conditions.
• This approach facilitates longitudinal implementation to assess clinical and health economic impacts.
• ABGS has the potential to enhance proactive genetic care within the pediatric healthcare system.