Call to Action for Advancing Equitable Genomic Newborn Screening

Newborn screening (NBS) facilitates early detection and treatment of infants with rare, treatable conditions, improving their health and well-being. Integrating genomic sequencing into NBS (genomic newborn screening, or gNBS) is an approach being considered by an increasing number of jurisdictions worldwide. Despite the potential benefits of gNBS, there remain substantial challenges to its global implementation. The purpose of this perspective paper is to discuss four pressing challenges to the equitable implementation of gNBS at a population level, and to present calls to action for each challenge. The four pressing challenges are selecting conditions for gNBS, respecting self-determination through informed consent and parent education, protecting privacy and confidentiality, and mitigating adverse psychosocial sequelae. All of these topics highlight significant disparities between high-income and low- and middle-income countries in implementing gNBS, which will make its equitable implementation even more challenging. The proposed calls to action acknowledge and provide recommendations for addressing these disparities. Across all of the challenges, the impact of local and community resources, priorities, policies, and infrastructure on implementation of gNBS is an especially important consideration. Differences between jurisdictions will influence whether, when, and how gNBS is implemented. Substantial gaps in empirical knowledge of gNBS remain, underscoring opportunities for innovative research. The pressing challenges discussed in this perspective paper must be addressed for the equitable and just implementation of gNBS and advancement of global health equity.