Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

Area of Science:

• Genomics
• Healthcare Innovation
• Bioethics

Background:

• Whole genome sequencing (WGS) has shown diagnostic potential in healthcare initiatives like the 100,000 Genomes Project.
• WGS is currently available to select patients within the National Health Service (NHS) in England.
• Building on existing applications, WGS utility in the newborn period is now being investigated.

Purpose of the Study:

• To design and embed a research program within the NHS to explore offering WGS to all newborns.
• To evaluate the feasibility, utility, and NHS impact of screening newborns for childhood-onset rare actionable genetic conditions.
• To understand the ethical and practical implications of using genomic data for research and lifetime health management.

Main Methods:

• Collaborative, evidence-based, and ethically deliberate program design.
• Iterative co-design process involving a nationwide public dialogue.
• Ongoing engagement with healthcare professionals, researchers, ethics experts, patient groups, and the public.

Main Results:

• Identification of emergent themes and ethical considerations through public and expert dialogue.
• Development of a research program framework addressing key challenges and implications.
• Establishment of a commitment to embedding ethics research and co-design into program delivery.

Conclusions:

• A structured, collaborative approach is essential for exploring the integration of WGS in newborn screening.
• Addressing ethical considerations and public engagement is paramount for successful implementation.
• The research program aims to lay the groundwork for utilizing WGS to improve child health outcomes and advance genomic medicine.