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Newborn Screening - History

The concept of newborn screening began in Buffalo, New York in 1960 with the work of Robert Guthrie, M.D., Ph.D. Today, all 50 states provide newborn screening. New York's Newborn Screening Program began in 1965, and is one of the most expansive programs in the United States. Since the program began, millions of babies have been tested and thousands of babies have been identified and treated for their disease.

Newborn Screening Milestones

  • 1930s - George Jervis identifies 50 clients at Letchworth Village State School in Thiells, New York, whose intellectual disability was attributed to Phenylketonuria (PKU). He pursued this study in four other state institutions and identified a total of 185 PKU cases among 15,000 clients.
  • 1953 - Dr. Horst Bickel suggests that early diet therapy could prevent development of the intellectual disability usually seen in PKU. Timely therapy depended on early detection of the child’s condition before the onset of symptoms.
  • 1958 - Robert Guthrie, a microbiologist and pediatrician at the State University of New York at Buffalo, devises a simple and inexpensive blood test which allowed screening for PKU to be done shortly after birth.
  • 1960 - Robert Guthrie coordinates a 29-state pilot study of 400,000 newborns to identify newborns affected with PKU. The success of this study prompts many states to institute screening programs for PKU.
  • 1963 - The first mandated newborn screening program begins in Massachusetts.
  • 1965 - New York State Public Health Law 2500-a, mandates every newborn in New York be screened for PKU.
  • 1966 - PKU testing becomes mandatory in most states.
  • 1968 - New York starts pilot testing for galactosemia and maple syrup urine disease (MSUD) in Albany and Buffalo.
  • 1975 - New York begins the first universal testing for sickle cell disease in the United States. Screening staff from other states come to the Wadsworth Center to learn screening techniques, and through coordinated instruction, help establish uniformity in newborn hemoglobin screening. Testing also begins for homocystinuria, adenosine deaminase deficiency, histidinemia, MSUD and galactosemia.
  • 1978 - The Center for Communicable Disease Prevention begins the Newborn Screening Quality Assurance Program by formally establishing an external proficiency testing system.
  • 1979 - New York State begins testing for congenital hypothyroidism.
  • 1981 - New York State becomes the first state to issue reports containing all test results instead of just screen positive results. At the same time, the State begins an initiative to involve parents in the screening process. The parents are provided with an identification number to give to their pediatrician. With that number, the pediatrician can obtain the baby’s screening results by calling the program.
  • 1981-1984 Newborn screening is completely centralized in Albany (Buffalo, NYC, and Syracuse labs are closed).
  • 1987 - The Program begins the first worldwide population-based seroprevalence study of HIV infection in newborns. Adenosine deaminase deficiency and histidinemia testing are discontinued.
  • 1989 - New York implements testing for biotinidase deficiency with funds provided by a federal grant, becoming the first worldwide program to identify biotinidase deficiency in African American and Hispanic populations, thus delineating the incidence of the disorder.
  • 1991- New York becomes the first state to use a telephone-computer interface, the Voice Response System (VRS), allowing licensed physicians to obtain results from an automated telephone system.
  • 1996 - New York State Public Health Law is amended, adding Section 2500-f, to initiate testing for HIV exposure.
  • 2002 - New York adds congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD) to the screening panel. New York also implements DNA testing as a confirmatory testing methodology.
  • 2004 - New York expands its newborn screening panel to 31 disorders through the use of tandem mass spectrometry (MS/MS) testing methodologies. The tests added were: Multiple acyl-CoA dehydrogenase deficiency (MADD or glutaric acidemia type II [GA-II]), Argininosuccinic acidemia (ASA), Citrullinemia (CIT), Mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase deficiency [BKT]), Carnitine-acylcarnitine translocase deficiency (CAT), Carnitine palmitoyltransferase II deficiency (CPT-II), Cobalamin A,B cofactor deficiency (Cbl A,B), Multiple carboxylase deficiency (MCD), Methylmalonyl-CoA mutase deficiency (MUT), Methylmalonic acidemias (MMA), Propionic acidemia (PA), Carnitine uptake defect (CUD), Glutaric acidemia type I (GA-I), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG), 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC), Isovaleric acidemia (IVA), Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (TFP), Short-chain acyl-CoA dehydrogenase deficiency (SCAD), Isobutyryl-CoA dehydrogenase deficiency (IBCD), Tyrosinemia (TYR), and Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
  • 2005 - American College of Medical Genetics submits the report, “Newborn Screening: Toward a Uniform Panel and System,” commissioned by the United States Department of Health and Human Services recommending the adoption of a core panel of 29 conditions for all state screening programs. New York adds the following tests: 2-Methylbutyryl-CoA dehydrogenase deficiency (2-MBCD), Argininemia (ARG), Carnitine palmitoyltransferase I deficiency (CPT-1), 2,4-Dienoyl-CoA reductase deficiency (2,4Di), Hyperammonemia/Hyperornithinemia/Homocitrullinemia (HHH), Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD), Malonic acidemia (MA), Hypermethioninemia (HMET), 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD), Cobalamin C,D cofactor deficiency (Cbl C,D), Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT), and 3-Methylglutaconic acidemia (3-MGA).
  • 2006 - New York becomes the first state to screen for Krabbe disease.
  • 2010 - New York begins screening for Severe Combined Immune Deficiency (SCID).
  • 2012 - Testing for Hyperammonemia/Hyperornithinemia/Homocitrullinemia (HHH) is discontinued for lack of identification of any infants with the disorder.
  • 2013 - Aidan's Law mandates the addition of adrenoleukodystrophy to the NBS panel. Universal screening begins December 30, 2013.
  • 2014 - NBS begins screening for Pompe disease.
  • 2018 - New York begins screening for Spinal Muscular Atrophy (SMA), Mucopolysaccharidosis, type 1 (MPSI), and Guanidinoacetate methyltransferase deficiency (GAMT).