Implementing Newborn Screening for Sickle Cell Disease

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Establishing a program for newborn screening of sickle cell disease is crucial for early identification and intervention, reducing associated mortality and morbidity. Key principles and practices, including the importance of analytical validity and safe interventions, underscore the need for informed consent and primary benefit to the infant. Screening newborns for sickle cell disease is essential due to the potential life-threatening complications if left undetected. Understanding the causes of death in sickle cell disease and the risk of infections highlights the importance of early detection through screening programs.

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Setting Up a Program for Newborn Screening for Sickle Cell Disease Kwaku Ohene-Frempong, M.D. Sickle Cell Foundation of Ghana

Newborn Screening for SCD Newborn Screening: A public health program for early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities.

Newborn Screening for SCD Principles and practice of screening for disease (1968) Report Commissioned by WHO from James Maxwell Glover Wilson, then Principal Medical Officer at the Ministry of Health in London, England, and Gunner Jungner, then Chief of the Clinical Chemistry Department of Sahlgren s Hospital in Gothenburg, Sweden.

Newborn Screening for SCD Newborn Screening Principles (U.S.) Final Report of the (IOM) Task Force on Genetic Testing Promoting Safe and Effective Genetic Testing in the U.S. (1997) 1. Newborn screening should be of primary benefit to the infant identified 2. Inappropriate to use traditional newborn screening solely to determine the carrier status of the infant 3. Tests should have analytical and clinical validity and utility 4. Interventions to improve the outcomes for an infant must be safe and effective 5. Informed consent, unless the analytical and clinical validity and utility of the test had been established

Newborn Screening for SCD Why screen newborns for sickle cell disease?

Newborn Screening for SCD Causes of Death in SCD-SS (0-10 yr) (Gill FM, et al, CSSCD: 1995)

Newborn Screening for SCD Infection in Sickle Cell Disease Development of Functional Asplenia Infant with SCD-SS Age 3 months Age 8 months 99Tc Sulfur colloid Liver-Spleen Scan

Newborn Screening for SCD Infection in Sickle Cell Disease Development of Functional Asplenia Infant with SCD-SS Age 3 months Age 8 months 99Tc Sulfur colloid Liver-Spleen Scan

Newborn Screening for SCD Bacteremia in SCD-SS Disease, CSSCD Age (yr) <3 3-5 6-9 10-19 >20 No. pts. 459 571 630 958 983 Person-yr. 752 1025 1333 2843 3480 No. events 60 26 14 18 30 Incidence/ 7,979 2,536 1,050 633 862 105 Pr-yr Deaths 11 1 4 0 2 (Zarkowsky,et al. CSSCD; J Pediatr 1986:579-585)

Newborn Screening for SCD Incidence of Strep. pneumoniae Bacteremia in SCD-SS Disease Age (yr) <1* 1-1.9 2-2.9 3-3.9 4-4.9 5-5.9 No. pts. Pt.yrs No. events Incidence 105 Pr-yr US children < 5y (98-99)^171 * 3 patients were younger than 6 months of age 291 188 12 342 268 17 362 296 17 393 334 3 430 346 5 434 345 4 6,382 6,343 4,696 898 1,445 1,159 214 65 29 16 (Zarkowsky,et al. CSSCD; J Pediatr 1986:579-585)

Newborn Screening for SCD Penicillin Prophylaxis Study (I), CSSCD, 1986 Penicillin No.of subjects 105 (Person-yr 131.25 Age Pneumovax 67% ---------------------------------------------------------------------------- Pneumococcal sepsis 2 3-36m Placebo 110 137.5) 71.6% 13 (Incidence/105 Pr-yr Deaths (Youngest septic patient: 6 mo. old) *Onset of illness to death, < 9 hrs in all three cases 1,524 9,455) 3* 0 (Gaston, et al. CSSCD; NEJM 1986:1593-99)

Newborn Screening for SCD

SCD: 100 Years from African Perspectives Epidemiology and Clinical Course Warley et al., BMJ, 1965, 2:86 It seemed that if the homozygous sickler could be protected against infection the incidence of crises might be reduced and possibly the expectation of life increased. - placebo controlled - to study the effect of chemo- prophylaxis with an antimalarial and long-acting penicillin on the omplications of sickle-cell anaemia.

SCD: 100 Years from African Perspectives Epidemiology and Clinical Course Warley et al., BMJ, 1965, 2:86 Conclusion: one can conclude that treatment as given reduced the rate of dactylitic crises and resulted in a higher average haemoglobin value and probably reduced the tendency for the haemoglobin to fall.

Newborn Screening for SCD Why screen newborns for sickle cell disease? To reduce incidence of and mortality from pneumococcal bacteremia (invasive pneumococcal disease)

Newborn Screening for SCD in Ghana Brief History (1/2) 1989-90: Consultation with Ministry of Health, Korle Bu Teaching Hospital, Accra; Komfo Anokye Teaching Hospital, Kumasi 1991: NIH-NHLBI (US) Application filed through CHOP-CSCC 1992: Sickle Cell Clinic inaugurated in Kumasi at KATH 1993: NHLBI Grant Award (renewed 1998, 2003) 1994: Training of Senior Lab tech, Senior Nurse, Senior Health Educator in US; Newborn Screening Lab at Noguchi Institute established; and, Newborn Screening Advisory Committee established 1995: Newborn Screening Pilot Project begins at KATH/Kumasi (urban) 1997: Screening begins at Tikrom (rural) Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Kumasi-Tikrom Pilot Project: Organization Newborn Screening Advisory Committee 1. Chief Executive, Komfo Anokye Teaching Hospital (KATH) - Chair 2. Chairman, Board of Trustees, KATH (Traditional Paramount Chief) 3. Regional Director of Health Services, Ashanti Region 4. Metropolitan Director of Health Services, Kumasi 5. Dean, School of Medical Sciences, KNUST 6. Deputy Director of Nursing Services (Public Health), Ashanti Region 7. Principal Nursing Officer in charge of Maternity Services, KATH 8. President, Sickle Cell Association of Ghana, Ashanti Branch Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Kumasi-Tikrom Pilot Project: Organization Newborn Screening Advisory Committee: Responsibilities Reviewed Initial Study Protocol, suggested changes, approved final Met 2-3 times a year, received reports from each component and provided comments and suggestions for improvement Served as liaison between project, government, and public health service Served as advocates for incorporation of pilot project into public health service Provided resources beyond the budget of research project. Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Kumasi-Tikrom Pilot Project: Organization CHOP Sickle Cell Center Ghana Ministry of Health Noguchi / SCFG Laboratory Screening Education Clinical Clin Lab Newborn Screening Advisory Committee Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Health Education and Counseling Component Function: 1. Coordination and implementation of ALL educational activities related to project 2. Social support for patients and families Responsible Institution: 1. National Health Learning Materials Centre (Health Education Unit) 2. Regional Directorate of Health, Ashanti Region, Ghana Health Service 3. Sickle Cell Association of Ghana Staff: 1. Health Educators 2. Audio-Visual technicians, Graphic artists Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Health Education Through Poetry by Patients

Newborn Screening for SCD in Ghana Health Education Through Folk Songs (Koo Nimo s Band)

Newborn Screening for SCD in Ghana Screening and Tracking Component Function: 1. Obtaining of blood samples 2. Giving results to parents 3. Tracking babies with disease for referral to clinic 4. Data Entry Responsible Institution: 1. Maternity services of hospitals and clinics 2. Regional Directorate of Health Services, Ghana Health Service Staff: 1. Midwives, Maternity Nurses 2. Community and Public Health Nurses 3. Data Entry clerks Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Sample Collection Form Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Screening and Tracking Component Tracking Babies with Possible SCD

Newborn Screening for SCD in Ghana Laboratory Component Laboratory Procedures Screening method: Isoelectric focusing (IEF) Possible SCD samples are repeated Confirmatory Method (2nd sample): High Pressure Liquid Chromatography (HPLC)

Newborn Screening for SCD in Ghana Noguchi Memorial Institute for Medical Research University of Ghana, Legon Location of Screening Laboratory

Newborn Screening for SCD in Ghana Brief History (2/2) 1998-2008: Screening expanded through Kumasi and Tikrom 2006/67: Proposal to Ministry of Health for national scale-up. 2008: End of NIH-NHLBI funding; Ghana government funding starts; Application to Brazil for support 2009-12: Brazil-Ghana collaboration agreements signed 2010: National Newborn Screening Programme for SCD launched; Technical Advisory Committee inaugurated 2011: Policy and Technical Plan drafted for government 2012-16: Consolidation and expansion Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana National Newborn Screening Programme for Sickle Cell Disease Newborn Screening Technical Advisory Committee Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana National Newborn Screening Programme for SCD: Newborn Screening Technical Advisory Committee Initial Assignment Draft the Policy and Technical Plan for the National Newborn Screening Programme for Sickle Cell Disease. Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Newborn Screening Technical Advisory Committee Draft Policy on Newborn Screening Issues addressed: 1. Programme Oversight 2. Scientific Advisory 3. Programme Coordination 4. Healthcare Provider Responsibilities 5. Parental Information and Right of Refusal 6. Human Samples Ownership and Protection 7. Confidentiality of Screening Information 8. Healthcare Following Newborn Screening Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Newborn Screening Technical Advisory Committee Technical Plan The TAC prepared the Technical Plans through Sub-Committees: 1. Policy, Ethical, Legal and Social issues 2. Education, Counseling, and Public Awareness 3. Screening and Tracking 4. Laboratory Operations and Standards 5. Clinical Management 6. Logistical Support 7. Monitoring and Evaluation Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Newborn Screening Technical Advisory Committee Technical Plan The Plan is grouped under the following Sections: A. Policy B. Advocacy, Education, Counseling C. Laboratory Operations and Standards D. Clinical Management E. Logistical Support pages Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Newborn Screening Technical Advisory Committee Technical Plan Each Section addressed the following: A. Specific Objectives B. Action(s) to Meet Objectives C. Partners (institutions and agencies) D. Timeline (start to completion) Budget not included in Technical Plan. Sickle Cell Foundation of Ghana

Newborn Screening for SCD in Ghana Screening Results: February 1995 December 2016 Year F FA FAS FAC FC FS FSA FSC Other Total Total 105 363,450 63,792 43,269 2,319 4,259 83 3,910 116 481,302 % .02 75.51 13.25 8.99 .48 .89 .02 .81 .02 100.00 Babies with SCD totaled 8,252 (1.72%); FS (51.61%), FSC (47.38%), FSA (1.01)

Newborn Screening for SCD in Ghana Implementation of National Scale-up Threats to Success Unstable Government Budget Support Reliance on foreign support of newborn screening unsustainable National Health Insurance Authority unable to meet obligations Proposed Solutions: 1. Efforts to convert NHIA support to direct billing 2. Family payment for newborn screening Sickle Cell Foundation of Ghana