The ASH consa consortium on newborn screening in Africa for sickle cell disease: Interim updates of progress in screening, follow-up and supporting initiatives

Abstract

Abstract Introduction: Children born with sickle cell disease (SCD) in sub-Saharan Africa (SSA) are at >50% risk for under age 5 mortality (U5M). To demonstrate whether newborn SCD screening in SSA and early entry into standard care will lower rates of U5M, the American Society of Hematology (ASH) established the Consortium on Newborn Screening in Africa (CONSA) in 10 sites in 7 countries: Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda and Zambia. The hypothesis is that early infant SCD screening and entry into standard continuous care will reduce U5M compared to historical estimates.Primary objectives are to determine: a) the population-based birth incidence of SCD; and b) effectiveness of early standardized care for preventing U5M consortium-wide at each country's site(s).Secondary objectives are to: a) establish SCD newborn screening programs and early intervention programs; and b) assess implementation and sustainability. Methods: CONSA is a multi-country health intervention program for centralized in-country newborn screening for SCD laboratory analysis of dried bloodspots, with enrollment of infants with SCD into early, continuous standardized care. Additional program needs have been identified, described here. Results: This report presents interim data on screening and clinical follow-up, highlighting several key initiatives developed to strengthen the CONSA program, which was launched in 2020. To date, results from 158,736 screened babies revealed 2201 (1.39%), with SCD, 25708 (16.20%) with S and 2531 (1.59%) C trait, and 1814 (1.14%) with another variant. Of those with screening results indicative of SCD, 693 underwent confirmatory testing, which established the diagnosis in 624 individuals (90%). To date, 847 (38.5%) have had an initial documented SCD clinical visit at a CONSA site. Others are receiving care at non-CONSA sites. Several initiatives are supporting CONSA, some through external resources:Screening and diagnostic capacity: Collaboration with a global technical source and in-country distributors has established networks to procure and distribute laboratory supplies, and provides technical support for laboratory guidance, training and troubleshooting to enhance laboratory capacity on isoelectric focusing using dried bloodspots and interpreting results.Sites were provided with supplies of the HemotypeSC device for rapid point-of-care diagnostic confirmation.Digital Health: A CONSA mobile phone app was created to support digital data collection with delayed cloud upload to the central database. Text messages are sent to families of infants with results of non-abnormal hemoglobin, reducing notification workload for data managers and nursing staff.Text messages are sent to affected families to remind them of follow-up visits.Health Education Initiative: Training with doctors, nurses, community health workers (CHWs), and other allied health professionals on SCD diagnosis and care has created networks of healthcare professionals for children living with SCD.More than 1,800 healthcare providers have been trained, with substantial pre- vs. post-test improvement.Improving clinical follow-up and retention in care: CONSA sites are partnering with local pediatric clinics to provide care, with referral to secondary or tertiary care as needed.The new CHW Initiative aims to support families of affected infants to increase documented visits for confirmatory diagnosis, enrollment and retention in care.Enhancing access to hydroxyureaSustainability: Measures to increase public awareness and reduce the stigma of SCD are underway to enhance in-country advocacy. CONSA country leaders are supported in developing key messages and strategies to engage local and national government leadership to promote their SCD efforts.Small grants are being provided through contracts with local community-based organizations to support community engagement and SCD advocacy at CONSA sitesSocial media outreach on SCD is being piloted to improve public awareness, specifically through promotional videos developed by musical artists collaborating with health education groups, distributed via popular global apps generally aimed at adolescents and young adults. Conclusions: Newborn screening encompasses a program beyond a test. Much progress has been made by the CONSA program that is tailored to local SSA strengths. The program is supported by several key initiatives to ensure effectiveness and sustainability.