NEWBORN SCREENING FOR SICKLE CELL DISEASE Progress Towards Improved Outcomes for Children and Families

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1 NEWBORN SCREENING FOR SICKLE CELL DISEASE Progress Towards Improved Outcomes for Children and Families Peter A. Lane, MD Department of Pediatrics Emory University School of Medicine Atlanta, GA

2 U.S. NEONATAL SCREENING Prevalence of Disorders 1. Sickle cell disease 2. Hypothyroidism 3. PKU, galactosemia, and other metabolic disorders

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4 NEONATAL SCREENING SYSTEM Screening Follow-up Diagnosis Management Evaluation and outcomes

5 NEONATAL SCREENING FOR SICKLE CELL DISEASE 1974 Feasibility of using cord blood samples 1974 Modification to filter paper samples 1975 New York: First statewide universal screening program 1979 Colorado, Arizona, New Mexico, Wyoming 1981 Early diagnosis and comprehensive care reduces morbidity and mortality 1986 Efficacy of penicillin prophylaxis 1987 NIH Consensus Development Conference

6 PROPHYLACTIC PENICILLIN

7 NEWBORN SCREENING FOR SICKLE CELL DISEASE AND OTHER HEMOGLOBINOPATHIES NIH Consensus Development Conference April 1997 The benefits of screening are so compelling that universal screening should be provided. State law should mandate the availability of these services while permitting parental refusal. JAMA 1987;258:1205-9

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11 NEWBORN SCREENING COHORT TRACKING Maryland 7/1/85-8/1/98* Infants with Sickle Cell Disease 941 Total Deaths (0-4 years) 12 SCD - related 5 Unrelated to SCD 7 Mortality Rate (0-4 years) Infants with SCD 1.3% All African-American infants % *Panny S: Personal communication

12 EVIDENCE OF SUBOPTIMAL CARE FOR SICKLE CELL DISEASE Anecdotal experience Consumer experience Increase in malpractice litigation Widespread ignorance health care providers payors Geographic differences in mortality

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14 NEONATAL SCREENING RESULTS No news is no news!

15 SICKLE CELL DISEASE Evaluation of Outcomes Health Morbidity and mortality Quality of life Patient and family satisfaction Provider satisfaction

16 NEONATAL SCREENING FOR HEMOGLOBINOPATHIES Disorder Clinically Significant Early Dx Beneficial Education/ Counseling Sickle cell disease Yes Yes Yes Non-sickle β-globin disorders Yes? Yes α-thalassemia syndromes Yes? Yes Hemoglobinopathy carriers No No Yes

17 IDENTIFICATION OF HEMOGLOBINOPATHY CARRIERS: Potential Benefits Education of families about hemoglobin variants Avoid confusion between benign carrier states and disease Avoidance of redundant testing in the future Offer testing of parents and other family member Identify, educate, and counsel couples at risk for children with disease Avoidance of legal jeopardy (wrongful birth)

18 IDENTIFICATION OF HEMOGLOBINOPATHY CARRIERS Potential Harm Confusion between benign carrier states and disease stigmatization anxiety inappropriate parenting (vulnerable child syndrome) Exposure of mistaken paternity Discrimination by employers and/or health insurance organizations

19 GUIDELINES FOR FOLLOW-UP OF CARRIERS OF HEMOGLOBIN VARIANTS DETECTED BY NEWBORN SCREENING* 1. Ideally, education about NBS, which usually includes testing for SCD, should be provided to families during prenatal care -- well in advance of the time of delivery. *Council of Regional Networks for Genetic Services (CORN) 1997

20 GUIDELINES FOR FOLLOW-UP OF CARRIERS OF HEMOGLOBIN VARIANTS DETECTED BY NEWBORN SCREENING* 2. A mechanism should be in place in state NBS programs so that all results of NBS can be made available to the parents of all infants who are tested. *Council of Regional Networks for Genetic Services (CORN) 1997

21 GUIDELINES FOR FOLLOW-UP OF CARRIERS OF HEMOGLOBIN VARIANTS DETECTED BY NEWBORN SCREENING* 3. Parents of all infants who are detected to be carriers of hemoglobin variants should be offered appropriate education, counseling, and testing. *Council of Regional Networks for Genetic Services (CORN) 1997

22 GUIDELINES FOR FOLLOW-UP OF CARRIERS OF HEMOGLOBIN VARIANTS DETECTED BY NEWBORN SCREENING* 4. Individuals who counsel should have appropriate training and credentialing in order to ensure the highest quality of services for families of carriers detected by NBS. *Council of Regional Networks for Genetic Services (CORN) 1997

23 GUIDELINES FOR FOLLOW-UP OF CARRIERS OF HEMOGLOBIN VARIANTS DETECTED BY NEWBORN SCREENING* 5. NBS programs should have a mechanism for monitoring and assessing the approaches to, responses to, and costs of providing carrier education and counseling services. *Council of Regional Networks for Genetic Services (CORN) 1997

24 NEONATAL SCREENING SYSTEM Screening Follow-up Diagnosis Management Evaluation and outcomes

25 NEWBORN SCREENING SYSTEM: PARTNERSHIPS Public Health MCHB NBS programs State Title V Children and Families Community SCDAA Local organizations Providers AAP SCD Treatment Centers Primary Care

26 SICKLE CELL DISEASE AND NEWBORN SCREENING PROGRAM Purpose To support the comprehensive care of newborns diagnosed with SCD or as carriers of SCD and their families, relying on partnerships among the State Title V and newborn screening programs, community-based SCD organizations, comprehensive sickle cell treatment centers, and community-based primary care providers.

27 SICKLE CELL DISEASE AND NEWBORN SCREENING PROGRAM Expectation Enhance the follow-up component of state SCD screening programs and support communitybased efforts that provide hemoglobinopathy counseling, SCD-related education, and support services.

28 1 in 375 African-Americans are afflicted with sickle cells... federal panel urged babies found to carry the trait that predisposes them to contact the terminal illness (SCD) be given prophylactic doses of penicillin Health Care Information Center, May 3, 1993 Luci Koizumi, Publisher and Editor-in-Chief Washington, D.C. ($450 per year)