Related Experiment Video
Updated: Jun 29, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality
Najibah Galadanci1, Shannon Phillips2, Alyssa Schlenz3
1Division of Hematology and Oncology, Department of Medicine, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Insights
Newborn screening for sickle cell disease (SCD) shows state-level variations in follow-up care, impacting timely diagnosis and treatment for infants. Improving these processes is crucial for better outcomes.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) for sickle cell disease (SCD) improves survival but has gaps in care delivery.
- Lack of national quality assurance leads to inconsistent state-level NBS outcomes.
Purpose of the Study:
- To evaluate and understand state-specific NBS follow-up processes.
- To identify variations in how states deliver results, ensure specialist care, and manage case closure.
Main Methods:
- Qualitative study using semi-structured interviews.
- 29 participants across 8 states (SCD providers, NBS coordinators, health department personnel, CBOs).
Main Results:
- Significant state-dependent variations in NBS information delivery and patient management.
- Inconsistent communication of results, differing responsibilities for confirmatory testing and prophylaxis, and variable case closure processes.
- Identified state-specific challenges and facilitators to NBS follow-up.
Conclusions:
- Systematic improvements are needed in NBS follow-up processes.
- Addressing state variations can enhance timely care for infants with SCD.
- Standardizing NBS follow-up can lead to more equitable and effective public health outcomes.
Abstract:
Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival but there are still gaps resulting in delayed care for affected infants. As a state-run program, there are no national quality assurance programs to ensure each state achieves consistent, reliable outcomes. We performed this qualitative study of NBS follow-up practices to better evaluate and understand the multi-level, state-specific processes of how each state's public health department delivers the NBS results to families, how/if they ensure affected infants are seen quickly by sickle cell specialists, and to determine the close-out processes used in each state. This project used semi-structured interviews conducted with 29 participants across eight states to explore these NBS follow-up processes in each state. Participants included SCD providers, NBS coordinators, or personnel associated with state health departments and community-based SCD organizations (CBO). Our results show significant state-dependent variations in the NBS processes of information delivery and patient management. Specifically, programs differed in how they communicated results to affected families and which other organizations were informed of the diagnosis. There was also state-based (and intrastate) variation in who should assume responsibility for ensuring that infants receive confirmatory testing and are promptly started on penicillin prophylaxis. Case closure was also highly variable and poorly validated. Our results also yielded identifiable challenges and facilitators to NBS which were highly variable by state but potentially addressable in the future. This information suggests opportunities for systematic improvement in NBS follow-up processes.
