White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa

Abstract

Sickle Cell Disease (SCD) is among the most common single-gene diseases in the world but evidence-based comprehensive health care has not been implemented where the highest prevalence of SCD occurs, in sub-Saharan Africa (SSA). It represents an urgent health burden, both in terms of mortality and morbidity with an estimated mortality of 8–16% in children under 5 years in SSA. Addressing the high mortality of SCD in SSA and for effective management of SCD, newborn screening (NBS) should be incorporated with prevention of infections (including pneumococcal septicaemia and malaria), parental education and support at all levels of healthcare provision to enable timely recognition. The NBS working group of the Africa Sickle Cell Research Network (AfroSickleNet) collaboration surveyed current projects in NBS in SSA, and current conditions that hinder more widespread implementation of NBS for SCD. Solutions based on new point-of-care testing technology to disseminate education, and implementation science approaches that leverage existing resources are proposed.

Sickle cell disease: Reducing the global disease burden

“…20,21 These results are comparable with those in high-income countries, demonstrating the advantages of newborn screening and close follow-up of children in a comprehensive care approach. 22 Despite the overwhelming evidence of the efficacy of newborn screening for SCD, no country in SSA with 75% of the world's disease burden has a universal newborn screening program in place. Unfortunately, late diagnosis is made, often and most commonly when the child develops a severe complication, and not uncommonly, the child dies without the diagnosis being made.…”

Empowering newborn screening programs in African countries through establishment of an international collaborative effort

“…Participants also recognized the importance of the First Global Congress on Sickle Cell Disease (Ghana in 2010) (Odame et al 2011), in drawing attention to the problems of SCD in Africa and around the world. They supported the ideas recently put forth by the U.S. March of Dimes and others regarding pathways for NBS progress (Hsu et al 2018;Howson et al 2018). As an acknowledgment of the commitment of participants and faculty to continue moving forward to implement sustainable NBS for SCD and other conditions in Africa, participants concluded the meeting by agreeing to the 2019 Rabat Declaration on Newborn Screening in commitment to their solidarity of purpose (see Appendix 1).…”

“…Additionally, a model for regional NBS collaboration in a low-and middle-income economy adaptable to Africa has been described (Padilla et al 2012) along with details for establishing a NBS system and assessing its component parts for quality improvement (Therrell and Padilla 2005;Therrell et al 2010). The NBS working group of the Africa Sickle Cell Research Network (AfroSickleNet) has recently reviewed current NBS projects in sub-Saharan Africa and published a comprehensive report on challenges to implementing widespread NBS (Hsu et al 2018). In Nigeria, steps have already been taken to systematically evaluate the process steps to successful NBS implementation (Inusa et al 2018) and this may serve as a model for other African countries.…”

Antenatal screening for haemoglobinopathies: current status, barriers and ethics

“…Whilst several ethical and operational challenges remain, countries with the highest burden of disease are currently lacking effective antenatal or neonatal screening programmes (Therrell & Padilla, ). Co‐operative programmes between resource‐rich and ‐poor countries (so‐called North‐South collaborations) have already demonstrated success in implementing screening programmes in some African countries (Hsu et al , ). To ensure success, programmes should aim to provide high quality medical care for existing patients, ensure widespread public education, lobby for political priority and establish locally effective tests and infrastructure.…”

“…Region‐specific or isolated pilots for antenatal screening is available in some countries where SCD is endemic, such as that in India (Bhukhanvala et al , ), Cuba (Aguila et al , ) and Northern Israel (Koren et al , ). Some African countries, such as Ghana, Burkina Faso, Benin, Congo and Nigeria, have reported on isolated, regional NBS pilots, but large‐scale national haemoglobinopathy screening programmes are lacking (Hsu et al , ).…”