Newborn Sickle Cell Screening Charles Kiyaga MSc, MPhil National EID/NBS Coordinator Central Public Health Laboratories Ministry of Health – Uganda
Early Infant HIV Diagnosis (EID) Program served as a Precursor for Sickle Cell NBS • The national EID program targeting HIV exposed infants started in 2006 working with 8 partner run laboratories with molecular capacity. • To make the program more efficient and cost effective, the Ministry of Health decided to consolidate the labs into one managed under the public system in 2011. • To make the centralized EID lab accessible a sample transport network was formed. • This improved efficiency and reduced TAT from 2 months to 2 weeks, reduced the unit cost per test from $40 to $18, and improved MOH oversight and coordination of the program
The National Sample Transport System In order to increase access to the central EID laboratory, and quality lab services in general, MoH decided to invest in a sample transport system. This system involves setting up local area networks centered around major hospitals, and health centers which we called hubs. x x x x x x Tuesday Monday x Route Route x x x HUB DNA PCR Laboratory • Each hub operated with in 30 to 40km radius reaching 25 to 35 health facilities Each hub is given a motorbike and a rider who through scheduled routes visits 5 to 8 health • facilities a day picking sample and dropping results of the previous visit. • The hub will run those tests they have capacity for, and refer highly specialized ones to CPHL 3
The Hub-based National Specimens and Result Transportation Network Structure of the hub network Map showing current Hub Distribution The bike and rider given to each hub • Map of Uganda with the total 100 functional hubs, reaching over 3000 health facilities which is over 90% of national coverage.
Sickle Cell Disease in Africa and Uganda Multiple origins with Africa and also the Arab-Indian region Inheritance of a single sickle mutation (one parent) is sickle trait and protects against malaria Inheriting two sickle mutations Piel FB, et al. Nat Commun 2010;1:104 (from both parents) causes Uganda homozygous sickle cell disease • Population: 36 million • Birth rate: 1,600,000 per year 400,000 babies with sickle cell • Sickle prevalence is very high disease are born each year and • Estimated ~20,000 births/year most are in sub-Saharan Africa • However, 80% are dead by 5yrs 70 to 80% don’t live to see their 5 th • Contributes ~15% of the U5MR birthday.
Sickle Cell Challenges in Uganda • Limited data regarding the sickle cell burden • Lack of knowledge among healthcare workers and public, not recognized or accurately diagnosed • Not on non-communicable disease agenda • No national policy and strategy • No newborn screening, lack of access to care
Sickle Cell Survey Proposal • Establish Partnerships MOH/CPHL, Makerere University Cincinnati Children’s Hospital • Country-wide surveillance study Map the burden of SCT and SCD Build local capacity, raise awareness Ride on the already existing EID infrastructure • Surveillance Study � sickle cell newborn screening
Sickle Cell Laboratory Space at the CPHL was renovated and fully equipped Laboratory set-up and training of CPHL personnel by Cincinnati team, plan for ongoing training and monitoring Short-term goals to build local capacity and determine feasibility for high-volume testing In February 2014, the Sickle Cell Laboratory was opened
Uganda Sickle Surveillance Study Primary objective was to describe the current prevalence and distribution of SCD in Uganda We hypothesized that there is a large sickle cell burden across Uganda, but with substantial geographic variability Design and Methods: • One year cross-sectional study • Use dried blood spots collected in EID program • Perform hemoglobin electrophoresis using isoelectric (IEF) technique on 75,000-100,000 samples
US3 Results ~100,000 samples Overall 13.3% trait Overall 0.7% disease High burden districts Comorbidities: HIV, Age Allows targeted screening
Highest Prevalence Districts • 49 of the 112 districts have sickle cell trait >15.0% • 8 districts have sickle cell trait >20.0% • 14 districts contain 47% of the sickle cell disease • Screening should focus on highest burden regions
Sickle Cell Newborn Screening Where to begin screening? • 12-14 highest burden districts • Mid Northern and Central regions • Maternity wards for in-hospital births • Healthcare facilities, immunization clinics Whom to screen? • All newborns within the hub • Include children under 2 years in high burden districts
Sickle Cell Training Training at regional referral hospitals: West Nile SCT 13.8% • 1 full day of training per site Mid Northern SCT 19.2% • Coordinated through sample North East SCT 15.8% transport hub system • Invite physicians, nurses, lab techs, sample transport coordinators • Comprehensive sickle cell curriculum developed • Establishment of a local sickle cell clinics in targeted sites
Targeted Screening Results • Since the completion of the US3 study, 12 hub sites West Nile SCT 13.8% have now received sickle cell training and have begun Mid Northern SCT 19.2% targeted sickle cell screening North East SCT 15.8% • Over 35,000 samples have been collected on children <2 years of age, from high-burden districts using the EID sample transport system • ~20% sickle cell trait is confirmed in the East Central and Mid Northern regions of Uganda, with >1% disease • Co-morbidity with HIV is supported by our new data • Site training and follow-up training occurs with support of PerkinElmer and Cincinnati Children’s Hospital
Next Steps: Sickle Cell Laboratory The new Uganda National Sickle Cell Laboratory: • High efficiency • ~2,000 samples per week) • >99% accuracy for trait and disease • Runs samples 5 days/week • Doubled capacity in equipment, space, and additional personnel • Targeted screening from high-burden districts and all HIV+ samples • Beginning DNA-based diagnostics
Long-Term Goals in Uganda West Nile • Continue scaling up targeted screening in high-burden SCT 13.8% districts Mid Northern SCT 19.2% North East • Improve clinical care with district hospital clinics but SCT 15.8% also incorporate sickle cell into primary health care • Increase public awareness by media and ad campaigns • Establish national guidelines and encourage MOH to write formal national sickle cell strategy • Universal sickle cell screening with appropriate intervention, education, and treatment • Use sickle cell screening as a precursor for other NBS interventions
End Acknowledgements • Thanks to our collaborating partners Cincinnati Children’s Hospital based in the US for the technical and logistical support • Thanks to Perkin Elmer for the logistical support. • To Makerere University for supporting the study
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