Newborn Screening Expansion Using Whole-Genome Sequencing: Benefits, Harms, and Public Health Decision Frameworks, Current Evidence and Gaps

Kato Jumba K.

Faculty of Science and Technology Kampala International University Uganda

ABSTRACT

The expansion of newborn screening through whole-genome sequencing (WGS) represents a transformative shift from targeted biochemical testing toward comprehensive genomic population screening. This paper examines the potential benefits, harms, and public-health decision frameworks guiding the adoption of WGS in newborn screening programs, synthesizing current evidence and identifying key knowledge gaps. WGS offers the capacity to detect a broader spectrum of genetic disorders at or before symptom onset, improve diagnostic yield, and enable earlier clinical intervention and lifelong risk management. However, its implementation introduces substantial challenges, including incidental findings, uncertain variant interpretation, consent complexities, data-privacy concerns, inequities in access, and increased follow-up burdens on families and health systems. Public-health decision frameworks, such as cost-effectiveness analysis, value-of-information approaches, and phased pilot implementation, provide structured tools to balance potential benefits against risks while ensuring transparency and accountability. Despite growing international pilot programs, evidence on long-term clinical utility, population-level outcomes, economic sustainability, and ethical governance remains limited. Addressing these uncertainties requires coordinated research, robust infrastructure, and inclusive policy development. Overall, while WGS-based newborn screening holds significant promise for improving early detection and preventive health strategies, careful evaluation of its clinical, ethical, and societal implications is essential before large-scale adoption.

Keywords: Newborn screening, Whole-genome sequencing, Public health policy, Genetic testing ethics, and Population health implementation.

CITE AS: Kato Jumba K. (2026). Newborn Screening Expansion Using Whole-Genome Sequencing: Benefits, Harms, and Public Health Decision Frameworks, Current Evidence and Gaps. RESEARCH INVENTION JOURNAL OF PUBLIC HEALTH AND PHARMACY 5(1): 1-8. https://doi.org/10.59298/RIJPP/2026/5118