Newborn Screening Expansion Using Long-Read Sequencing: Benefits, Harms, and Public Health Decision Frameworks Methods, Challenges, and Future Directions

Bwanbale Geoffrey David

Faculty of Pharmacy Kampala International University Uganda

ABSTRACT

The integration of long-read sequencing (LRS) into newborn screening (NBS) programs offers transformative potential for public health by enhancing diagnostic yield, resolving complex genetic variants, and providing expanded carrier and prenatal information. Compared to traditional short-read sequencing, LRS improves resolution of structural variants, splice events, and repeat expansions, facilitating earlier and more precise interventions. However, the expansion introduces challenges, including data privacy concerns, ethical dilemmas, incidental findings, equity considerations, and workforce and infrastructure requirements. Public health decision frameworks that systematically evaluate benefits, harms, economic implications, and stakeholder perspectives are essential for guiding implementation. Pilot studies, phased rollouts, and comparative effectiveness and cost-effectiveness analyses provide critical evidence for real-world application. Future research should focus on technological validation, data stewardship, workforce capacity, and policy alignment to ensure equitable, safe, and effective adoption of LRS in NBS programs.

Keywords: Newborn Screening, Long-Read Sequencing, Genomic Variants, Public Health Decision Framework, and Ethical and Equity Considerations.

CITE AS: Bwanbale Geoffrey David (2026). Newborn Screening Expansion Using Long-Read Sequencing: Benefits, Harms, and Public Health Decision Frameworks Methods, Challenges, and Future Directions. RESEARCH INVENTION JOURNAL OF RESEARCH IN MEDICAL SCIENCES 5(1):110-121. https://doi.org/10.59298/RIJRMS/2026/51110121