Helping newborns get a healthy start in life

January 30, 2020

Commonwealth Medicine recently announced important enhancements to the data system supporting laboratory testing for the New England Newborn Screening Program. This program performs tests on newborn infants to help identify treatable disorders through early detection.

Program laboratory testing will continue to detect the same comprehensive list of over 30 medical conditions. These include X-linked Adrenoleukodystrophy (X-ALD), Spinal Muscular Atrophy (SMA), and two lysosomal storage diseases, Pompe Disease and Mucopolysaccharidosis Type I (MPS I).

Now, the program’s enhanced data system will strengthen testing in several significant ways, including:

  • Improved quality control and more robust data integrity safeguards between specimen identification and laboratory results.
  • Clinical laboratory reports that provide much more detailed information to Massachusetts pediatricians than in previous reports, including auto-generated fact sheets with recommended steps to follow for out-of-range results.
  • Enhanced process management software automatically generates alerts for cases to be flagged for follow-up, including step-flow diagrams and advanced documentation capabilities.

“The goal of our program is to give all newborn infants every possible advantage to make the best start they can get in life,” said Roger Eaton, Ph.D., director of the New England Newborn Screening Program. “These important enhancements to our testing processes are the result of great dedication and collaboration by our exceptional team of clinical, laboratory, and data technology experts.”

Most babies, including many with severe medical conditions, appear healthy at birth. Routine screening of newborn babies can help doctors identify and treat certain disorders that are not apparent at birth but can become severe later on. By providing high-quality screening, along with timely and thorough clinical follow-up, the program helps prevent or minimize the effects of disorders that can lead to intellectual disabilities, life-compromising conditions, and sometimes death.

The New England Newborn Screening Program, which is administered by Commonwealth Medicine, was established in 1962 in Massachusetts. Today, it provides screening for about 500 newborns every day in Massachusetts, Maine, New Hampshire, Rhode Island, and Vermont.