Newborn Screening: Focus on Treatment
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1 Newborn Screening: Focus on Treatment Alan R. Fleischman, M.D. Senior Vice President and Medical Director March of Dimes National Conference of State Legislatures July 21, 2008
2 Newborn Screening: A Public Health Program Newborn screening is a public health program that identifies genetic, metabolic, hormonal, and functional disorders in infants and provides comprehensive follow-up care.
3 Newborn Screening: A Public Health Program
4 Newborn Screening Programs 1.The screening test(s) 2.Reporting of positive results 3.Diagnostic confirmation 4.Referral for treatment 5.Long term support of patients and families 6.Program evaluation
5 Dr. Robert Guthrie 1959-Test for PKU 1963-MA Tests all Babies
6 American College of Medical Genetics (ACMG), 2005 Criteria for inclusion: identification of disorder before symptoms sensitive, specific test performed shortly after birth demonstrated benefit of early detection, timely intervention, and efficacious treatment
7 ACMG Newborn Screening 29 recommended conditions Five fatty acid disorders Carnitine uptake defect (CUD) Long-chain 3-OH acyl-coa dehydrogenase deficiency (LCHAD) Medium-chain acyl-coa dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-coa dehydrogenase deficiency (VLCAD) Six amino acid disorders Argininosuccinic acidemia (ASA) Citrullinemia (CIT) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Phenylketonuria (PKU) Tyrosinemia type 1 (TYR-1) Three hemoglobinopathies Sickle cell anemia (HbSS) Hb S/Beta-thalassemia (HbSA) Hb S/C disease (HbSC) Nine organic acid disorders 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type 1 (GAI) Hydroxymethylglutaric aciduria (HMG) Isovaleric acidemia (IVA) Methylmalonic acidemia cbla and cblb forms (CBLAB) Methylmalonic acidemia due to mutase deficiency (MUT) Multiple carboxylase deficiency (MCD) Propionic acidemia (PROP) Six conditions classified as Other Biotinidase deficiency (BIOT) Classical galactosemia (GALT) Congenital adrenal hyperplasia (CAH) Congenital hypothyroidism (CH) Cystic fibrosis (CF) Hearing loss (HEAR)
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10 Jurisdictions at 29 Alaska Arkansas Colorado Delaware District of Columbia Florida Hawaii Illinois Indiana Iowa Kansas Louisiana Maryland Minnesota Mississippi Montana New Mexico New York Rhode Island Vermont Virginia Wyoming Underlined States have implemented mandated universal screening for at least 29 core conditions since the MOD July 2007 Report Card release. Next MOD Report Card will be issued in early 2009.
11 Newborn Screening Saves Lives Act (P.L ), 2008 Purpose To facilitate creation of national guidelines; To assist State newborn screening programs in meeting Federal guidelines; To improve education, outreach and coordinated follow-up care; To improve laboratory quality; and To reauthorize the Secretary s Advisory Committee.
12 Challenges of Positive Tests
13 Education of Practitioners Rare and serious diseases that require careful evaluation and often immediate intervention
14 Education of Parents Newborn Screening Saves Lives Act authorizes an Internet central clearinghouse of current educational and family support and services information, materials, resources, research and data on newborn screening.
15 Storage of Unused Spots Future Research Protecting Confidentiality Assuring Progress
16 Follow Up CDC: Ensure data quality Establish standardized procedures Federal Interagency Coordinating Committee on Newborn and Child Screening States integrate data sets i.e., birth defects surveillance, hearing and metabolic newborn screening
17 Treatment Treatment is important Short-term vs. long-term Support of Families Management Medical homes (Primary Physician) Medical formulas and foods
18 Who Pays? Public Health Title V Other Private Insurance Medicaid SCHIP
19 What s needed from you Check your state's program and assess it against the ACMG recommendations State Newborn Screening Advisory Committee can be extremely helpful in assisting your State Health Commissioner to continually evaluate and modify your state newborn screening program
20 What You Can Do Now Educate Health Professionals + Parents Integrate systems Access to coverage/treatment equals a stronger future
21 Thank You
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