Singleton, Kean Bill to Require Spinal Muscular Atrophy Screenings for Newborns Clears Committee

Trenton – Legislation sponsored by Senator Troy Singleton, which would require newborn infants to be screened for spinal muscular atrophy, cleared the Senate Budget and Appropriations Committee today.

“There are over 160,000 people in New Jersey who are spinal muscular atrophy carriers,” said Senator Singleton (D-Burlington). “Currently, this disease is diagnosed only after an infant starts to develop signs and symptoms. With this screening, genetic testing for newborns would be a critical first step in early detection. The more information parents have, and the sooner they have it, is key to getting the appropriate course of treatment.”

The bill, S-974, would require all infants born in New Jersey to be tested for the genetic markers associated with spinal muscular atrophy (SMA). SMA is a progressive neurodegenerative disease that is caused by abnormally functioning motor neurons that control voluntary movement, such as walking, talking and swallowing.  SMA leads to progressive muscle weakness and atrophy, particularly in the muscles of the torso, upper legs and upper arms.  The symptoms of SMA typically appear in the first six months of life, although they may manifest later in childhood and even into adulthood.

The bill would require the Commissioner of Health to develop a comprehensive program of follow-up services and procedures in the event a newborn tests positive for one or more genetic markers associated with SMA.  At a minimum, the services and procedures would include genetic counseling for the parents of the newborn concerning the risk that one or both parents is a carrier of the genetic mutation associated with SMA, and the risk that other children born to the parents may carry the mutation, pass it on to their own offspring, or may be born with SMA. They would also include information concerning available treatment options for SMA.

The bill was released from committee by a vote of 13-0.