A Legislative Column by Assemblyman Will Barclay
Since 1965, New York has had a Newborn Screening Program. When the program first became law, health care providers only screened for PKU (Phenylketonuria) – a rare genetic disorder.
People with PKU lack the ability to create the enzyme needed to break down an amino acid called phenylalanine. Without a special diet, brain damage can occur.
Thanks to this one screening, health care providers have been able to save thousands of lives and improve the quality of life for countless others for more than 50 years.
Since that time, New York has been adding to the list of genetic diseases and disorders as part of the Newborn Screening Program to help reduce infant mortality rates and pinpoint those who are at risk.
Shortly after birth, health care providers take a blood sample from infants born in hospitals and the baby is screened for more than 45 disorders such as sickle cell anemia, HIV, and cystic fibrosis. Each disorder is rare, 1 in 300 children test positive, but the disorders can be serious and in most cases, the child’s outcome is better with early detection and treatment.
Each state has a Newborn Screening Program and disorders and diseases are added to the screening programs at the state’s discretion.
Although newborn screening programs differ slightly from state to state, the U.S. Secretary of Health and Human Services provides guidance to state newborn screening programs.
In October, three more disorders were added to New York’s list of screened disorders based on federal recommendations. The new list includes screening for spinal muscular atrophy (SMA), a highly rare genetic disorder that affects muscle movement.
Recent studies have shown that children who are diagnosed and treated before 7 months of age have a greater chance at improving motor function and may slow the disease’s progression.
State lawmakers have also added to the list of disorders infants are screened for through legislation.
A bill was recently signed into law that adds the rare virus called cytomegalovirus (CMV) infection to the screening list for those who show signs of a hearing impairment.
Cytomegalovirus is the leading non-genetic cause of deafness in children.
In addition to the testing, the new law aims to educate pregnant women about the disease and how it is transmitted in order to protect unborn babies.
This law becomes effective on Jan. 30.
To learn more about CMV, visit https://www.cdc.gov/cmv/congenital-infection.html.
Another law, Aidan’s Law, which passed in 2013 requires newborn screenings for a genetic disorder called adrenoleukodystrophy, or ALD.
The disorder attacks the nervous system and mainly affects young boys but if ALD is detected in newborns, a bone marrow transplant can help them survive.
The legislation is named for Aidan Jack Seeger who died from ALD in 2012 at age 7.
Aidan’s family has worked hard to try and save other children and families.
Since the New York bill passed and became law, 9 other states have passed legislation to add ALD to the screening list and there is a push by the family to pass federal legislation that would require this screening in all 50 states.
In addition to saving lives, screenings help to prevent intellectual and physical disabilities.
To learn more, visit https://www.wadsworth.org/programs/newborn/screening. To learn more about guidance provided to states by the U.S. Department of Health and Human Service, visit https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html.
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