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Statewide Screening Diagnoses Diseases

Since statewide screening began for three additional genetic diseases in newborns, five babies have been diagnosed with the rare genetic disorder, spinal muscular atrophy, or SMA, and have been able to receive life-saving treatment.

“All children deserve a healthy start on life, and the expanded Newborn Screening Program has helped to better detect and treat genetic conditions at birth so we can take immediate action to fight these potentially life-threatening diseases,” said Gov. Andrew Cuomo. “As science advances, we will continue to expand the number of diseases included in these critical screenings to ensure our youngest New Yorkers get the care they need to live full, healthy lives.”

The Newborn Screening Program provides testing for every baby born in the state, using a few drops of blood collected when they are just a few days old. The screenings are conducted at the Wadsworth Center, New York state’s public health laboratory. In October 2018, the state began to screen newborns for three additional genetic diseases: spinal muscular atrophy (SMA); guanidinoacetate methyltransferase (GAMT) deficiency; and mucopolysaccharidosis type I. With those additions, the Wadsworth Center laboratory now screens all children born in New York state for 50 congenital disorders.

Spinal muscular atrophy is a genetic condition that destroys motor nerve cells, which control voluntary muscle movement. The early onset form of the disease has a typical survival rate of one to two years.

Recently the state conducted a pilot study for SMA, which affects one in 10,000 children, with several Columbia Presbyterian Hospitals. The study was performed with parents’ consent and included screening more than 16,000 newborns. The results were provided to the federal Advisory Committee on Heritable Disorders in Newborns and Children, which voted to recommend SMA for nationwide screening in February 2018. Though the US Department of Health and Human Services agreed with the recommendation, New York is only the sixth state in the nation to offer SMA screening to all newborns.

The pilot study, funded by Biogen Idec, resulted in the identification of a baby with SMA. The baby was afforded early, life-saving treatment, and has now met all typical developmental milestones and passed the expected survival age. The treatment is FDA-approved and available to babies who screen positive for this disease.

GAMT deficiency is a disease that results from the body’s inability to make creatine, a chemical stored in the body that is used in muscle contraction. Babies diagnosed early by newborn screening, before they become symptomatic, are spared life-altering symptoms, such as neurodevelopmental and speech delays and seizures. Treatment consists of simple dietary modifications, such as adding creatine to the babies’ diets. New York is just the second state to screen all new babies for GAMT deficiency.

From 2016 to 2018, the Newborn Screening Program carried out a pilot study for mucopolysaccharidosis type I, testing almost 36,000 infants with parents’ permission at several New York City hospitals. This rare disease causes a wide range of symptoms and results from the inability of an enzyme to break down large sugar molecules called glycosaminoglycans. Treatment, including enzyme replacement therapy and/or hematopoietic stem cell transplant, is available and outcomes depend on the severity of the disease. Early diagnosis by newborn screening helps children experience the best possible outcomes.

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