Building Capacity in Sub-Saharan Africa to Address Sickle Cell Disease: The Consortium on Newborn Screening in Africa (CONSA)

More than 75% of the global burden of sickle cell disease (SCD) occurs in sub-Saharan Africa, where scarce diagnostic and health care services result in unacceptably high under-five mortality rates. To address this challenge the American Society of Hematology (ASH) initiated the Consortium on Newborn Screening in Africa (CONSA) comprising seven countries: Ghana, Liberia, Nigeria, Kenya, Tanzania, Uganda and Zambia. CONSA seeks to demonstrate the benefits of hemoglobinopathy newborn screening and early clinical interventions for babies diagnosed with SCD. Dried blood spots (DBS), collected by heel prick of newborns or young infants at local hospitals and clinics are transported to a central laboratory at each site for testing. Ten sites in these seven countries initiated screening by December 2021.

An accurate diagnosis of SCD is critical for CONSA's success, and here we highlight the strategy and outcome of six key measures implemented to build local capacity and infrastructure. 1) Public private partnerships. ASH engaged with a commercial partner, which facilitated the subsidized procurement of the same isoelectric focusing (IEF) equipment and reagents for all ten laboratory sites. In other partnerships an App was developed to capture data electronically, and to upload gel results onto an ASH datahub. 2) Standard procedures. ASH members of the CONSA Laboratory and Diagnostics subcommittee prepared SOPs covering all aspects of the diagnostic process to ensure uniform experimental procedures and documentation of the data. In addition, a central laboratory facility was designated at each site to perform IEF on all DBS collected from the surrounding clinical facilities. 3) Staff empowerment. The national coordinator of each country recruited laboratory staff who underwent rigorous and repeated training and mentorship both in-person and virtually to run and interpret IEF gels of newborns according to the CONSA SOPs. Several training sessions were conducted and in September 2023 a hands-on refresher training workshop was hosted in Ghana, where two laboratory staff from each site attended. In addition to honing their technical skills and building confidence, this allowed the staff to meet and network with their peers. 4) Quality control. Several lanes of a standard commercial control are included on each gel to facilitate accurate identification of hemoglobin A, F, S and C. Each gel is interpreted independently by two staff members to ensure accuracy of the results and to minimize transcription errors. ASH subcommittee members performed spot checks on gels and provided written feedback followed by a virtual meeting with each site to discuss errors and to institute appropriate corrective action. Each sample that is identified as SCD is verified by repeat testing with a new punch from the original DBS. The caregiver of the affected baby is called to bring the baby to the clinic where a new DBS sample is collected for a confirmatory test. Babies with confirmed SCD are enrolled in a preventive clinical care program. 5) Site visits. ASH subcommittee members visited each site to understand the contextual realities. These visits were highly informative since they provided insight into the local conditions and challenges faced by each site. Gaps could be identified, and solutions formulated by contributions from all team members. They also built rapport and fostered cooperation between the ASH subcommittee members and the laboratory staff / national coordinators. 6) ASH staff support. Since the inception of CONSA, ASH staff have provided invaluable logistic and administrative support to ensure efficient functioning of the consortium.

In conclusion, CONSA has demonstrated the feasibility of setting up sickle cell newborn screening centers of excellence in resource-constrained sub-Saharan African countries with a high burden of SCD. Skills development, mentorship and quality control measures have enabled local staff to effectively screen newborns using IEF and to accurately identify infants with SCD or sickle cell trait. Babies with SCD are enrolled in a clinical care program from a very early age, which should improve their survival and quality of life. This consortium offers hope for alleviating the burden of this devastating disease and may pave the way to sustainable universal newborn screening in low- and middle-income countries, early clinical intervention and reduced morbidity and mortality.

Ware:Theravia: Other: Medical Advisory Board; Merck Pharmaceuticals: Other: Medical Advisory Board; Novo Nordisk: Other: Health Equity Advisory Board; Nova Laboratories: Other: Medical Advisory Board.