Newborn Screening:

Focus on Treatment

Alan R. Fleischman, M.D.Senior Vice President and

Medical DirectorMarch of Dimes

National Conference of State LegislaturesJuly 21, 2008

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.

Newborn Screening: A Public Health Program

Newborn Screening Programs

1.The screening test(s)2.Reporting of positive results3.Diagnostic confirmation4.Referral for treatment5.Long term support of patients and

families6.Program evaluation

Dr. Robert Guthrie

1959-Test for PKU

1963-MA Tests all Babies

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

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)

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 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)

Six conditions classified as ‘Other’• Biotinidase deficiency (BIOT)• Classical galactosemia (GALT)• Congenital adrenal hyperplasia (CAH)• Congenital hypothyroidism (CH)• Cystic fibrosis (CF)• Hearing loss (HEAR)

Jurisdictions at 29

AlaskaArkansasColoradoDelawareDistrict of ColumbiaFloridaHawaiiIllinoisIndianaIowaKansas

LouisianaMarylandMinnesotaMississippiMontanaNew MexicoNew YorkRhode IslandVermontVirginiaWyoming

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.

Newborn Screening Saves Lives Act (P.L. 110-204 ), 2008

• 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.

PurposePurpose

Challenges of Positive Tests

Education of Practitioners

Rare and serious diseases that require careful evaluation and often immediate intervention

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.

Storage of Unused Spots – Future Research

Protecting Confidentiality

Assuring Progress

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

Treatment

• Treatment is important• Short-term vs. long-term• Support of Families• Management

– Medical homes (Primary Physician)

– Medical formulas and foods

Who Pays?

• Public Health– Title V– Other

• Private Insurance• Medicaid• SCHIP

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

What You Can Do Now

…equals a stronger future

•Educate Health Professionals + Parents •Integrate systems•Access to coverage/treatment

Thank You