Newborn Screening for Sickle Cell Disease Between Point of Care Testing and Next Generation Sequencing – An Impossible Choice or Not?

Dear Colleagues,

Newborn screening (NBS) for sickle cell disease (SCD) has dramatically improved survival and quality of life where implemented, yet it remains unevenly available worldwide. As technologies evolve—from rapid point‑of‑care testing (POCT) to comprehensive next‑generation sequencing (NGS)— it allows new strategies to link screening to health care systems. Clinicians, policymakers, and laboratories face crucial choices, i.e., how can national programs balance accuracy, feasibility, and equity? Is the right approach context‑dependent, or is a global consensus emerging? How can affected newborns in different healthcare systems be enrolled in a meaningful disease management program?

This Special Issue of the International Journal of Newborn Screening invites researchers, clinicians, and public health experts to explore the crossroads of innovation and implementation in SCD screening. We seek reviews and original research that examine how different approaches, infrastructures, and data systems can jointly ensure timely detection, effective follow‑up, and sustainable impact.

Topics of interest include, but are not limited to, the following:

• Epidemiological data and key policy decisions shaping national implementation of NBS for SCD.
• Comparisons between low‑ and high‑income countries, including coverage, feasibility, and outcome disparities.
• Economic benefit and quality of life: what is known, and where are the remaining evidence gaps?
• Methods of screening, from traditional techniques to innovative molecular assays.
• Definition and role of point‑of‑care testing (POCT) in national and regional strategies.
• Place of next‑generation sequencing (NGS) within comprehensive NBS and confirmatory workflows.
• Transmission of results, data management, and timely parental communication.
• Strategies of follow‑up, integrating findings with NBS registries and long‑term care systems.
• Consideration of Hb AS and other hemoglobinopathies, including heterozygous states and clinical relevance.
• Registries and data infrastructure: objectives, design, and utilization of NBS registries.
• Linking NBS registries with national, EU, and international databases: challenges, opportunities, and goals for harmonization.

Through this collection, we aim to highlight both technological frontiers and system‑level insights that will guide the next generation of screening programs. Contributions that bridge laboratory innovation, clinical pathways, and policy frameworks are especially encouraged.

Join us in shaping the global dialog on how advances in NBS can bring equitable, high‑quality care for every newborn at risk of sickle cell disease.

Dr. Stephan Lobitz
Prof. Dr. Gulbis Béatrice
Dr. Yvonne Daniel
Dr. Raffaella Colombatti
Guest Editors

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• sickle cell disease
• hemoglobinopathies
• thalassaemia
• point-of-care testing
• next-generation sequencing
• follow-up