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

Abstract

In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries. The agenda focused on newborn screening rationale, techniques, system development, implementation barriers, ongoing research, and collaborations both globally and across Africa. We provide an overview of the workshop and a description of the newborn screening activities in the 11 African countries represented at the workshop, with a focus on sickle cell disease.

Appendix 1 2019 Rabat Declaration on Newborn Screening

Preamble

The First Pan African Newborn Screening Workshop occurred in Rabat, Morocco, June 12–14, 2019 and included attendees from 11 African nations: Morocco, Angola, Benin, Democratic Republic of Congo, Ghana, Malawi, Mali, Nigeria, Sierra Leone, Tanzania, and Uganda in addition to countries in Europe, North America, and Asia/Pacific. International experts from around the world and in the region provided the human resources necessary to accomplish the meeting’s goal of exploring new knowledge and developing meaningful collaborations for improving child health by implementing sustainable newborn screening programs throughout Africa.

Early identification can be facilitated by screening newborns shortly after birth for congenital or genetic disorders that can result in major disabilities, when not managed early. In addition to benefits for the child and family, there are also significant benefits to society when early treatment can lead to productive individuals with a meaningful life whose long-term disability is not a lingering burden to families and society. Sickle cell disease (SCD) is a group of conditions, common in Africa, for which early identification and interventions lead to significantly improved health outcomes. The high prevalence of undiagnosed non-communicable diseases, including SCD, invariably contributes to excess mortality in children less than 5 years of age (Wastenedge et al. 2018). Each year, approximately 400,000 babies worldwide are born with SCD (Weatherall 2011), with more than 75% in sub-Saharan Africa, where it is estimated that 50 to 90% die before their 5th birthday (Grosse et al. 2011). The World Health Organization (WHO) and United Nations have designated SCD as a global public health problem. In addition to SCD, other important conditions to be considered by countries developing newborn screening programs include congenital hypothyroidism, phenylketonuria and the thalassemias.

In order to begin to address ways in which newborn screening for SCD and other congenital or genetic disorders may be established, we have sought to identify challenges to implementation of sustainable newborn screening programs and the ways in which our collective engagement can further our efforts to improve child health across the African continent. With regard to these issues, Workshop participants formulated the 2019 Rabat Declaration on Newborn Screening.

Declaration

Recognizing that newborn screening programs must function within local public health systems governed by political and societal realities in a given context;

Recognizing that there may be a need for substantial adaptations tailored to the local realities in order to accomplish the ultimate goals of early identification, treatment and enrollment into comprehensive care;

Recognizing that sub-Saharan Africa accounts for over 75% of the global SCD burden, and appreciating that a newborn screening panel can include many different congenital conditions,

• We hereby affirm that hemoglobinopathy screening should be the major focus of newborn screening programs within sub-Saharan Africa;

• All countries should endeavor to establish a NBS program within the context of their national health care system.

We have identified the following activities to promote sustainable newborn screening across Africa:

• Engagement with Ministries of Health to boost awareness of need for newborn screening; to request endorsement of newborn screening; and to ensure alignment with country goals;

• Engagement with global health organizations—e.g., WHO and Gavi (the Vaccine Alliance) to establish collaboration opportunities for sharing resources;

• Engagement with manufacturers of diagnostic equipment and supplies to collaborate with countries to promote and lower costs for newborn screening;

• Engagement with pharmaceutical companies regarding treatment options for affected babies and children, especially low-cost antibiotics, and generic hydroxyurea for SCD;

• Exploration of different screening methodology options, such as point-of-care diagnostic technologies to lower cost and program efficiency;

• Establishment of and prioritizing a minimum list of common conditions to screen infants in Africa in the short term with SCD as the focus;

• Establishment of country-based and community-based associations working on newborn screening;

• Training of healthcare workers (doctors, nurses, health educators, genetic counselors, etc.) and public health laboratorians about newborn screening and genetics;

• Public education about newborn screening and SCD, in particular;

• Partnership with international maternal and child health, community-based, affected-family and public health organizations that have resources to assist;

• Continued presentation and publication of pilot screening results;

• Inclusion and education of community members and families as stakeholders in decision-making processes.

• Setting up data management systems within the newborn screening programs that can enable evidence-based decision making and longitudinal tracking of SCD patients.

The successful introduction and expansion of newborn screening in Africa will require careful planning and advocacy. Some pilot programs exist with variable approaches, but sustainability requires support from country Ministries of Health (MoH). Helpful partnerships with key stakeholders are needed, including affiliations with other programs of MoH (e.g., maternal and child health, immunization, health education, etc.). In addition, developing collaborative partnerships with other countries for laboratory and clinical support could be utilized.

We have identified the following general challenges to implementing newborn screening for sickle cell diseases (SCD) and other conditions (thalassemias) in Africa:

• Lack of comprehensive national newborn screening programs;

• Lack of newborn screening policies and guidelines;

• Lack of well-trained health workers;

• Lack of the necessary laboratory infrastructure and associated systems, such as sample transport and laboratory information management systems, to enable testing and dissemination of results;

• Lack of stable, consistent and sufficient funding.

We recognize the need for establishing collaborations and networks to facilitate the development of sustainable newborn screening programs in all countries.

In order to develop such a collaborative network in Africa, and to move newborn screening forward in our respective countries, we pledge to:

• Participate in increased communication efforts across the continent including a regional website, biennial regional meetings and annual meetings to share resources and assess each country’s progress;

• Develop smaller focused topic groups to address important issues (e.g., training, clinical standards of care);

• Establish a national advisory committee (including representatives of advocacy groups and affected-family organizations) for newborn screening planning;

• Work with the MoH to gain national support and to address other important issues (e.g., finances, integration with other MoH programs);

• Ensure standardization of data through the encouragement of the implementation of the common data elements for newborns to facilitate sharing and exchange of data within the continent as well as with the rest of the world;

• Seek opportunities to train the next generation of health care and public health professionals in new technologies as applied to newborn screening (e.g., molecular genetic methods);

• Work with affected families and MoH to develop, provide and continually assess templates for culturally-sensitive, multi-media educational materials, and requisite well-trained health educators.