Comeau to Globe: Newborn screening for Severe Combined Immunodeficiency is a success

August 01, 2014

Testing newborns for Severe Combined Immunodeficiency (SCID) is inexpensive and lifesaving, Anne Marie Comeau, PhD, deputy director of UMass Medical School’s New England Newborn Screening Program and an expert in the field, explained to The Boston Globe.

“SCID is one of the best success stories ever,” Dr. Comeau, also a professor of pediatrics at UMass Medical School, told the Globe. Checking for the rare genetic disorder increases the cost of individual screening tests by $5 to $10 a newborn, she said.

The July 30 article, Study supports newborn screening for ‘bubble boy disease, highlighted a new study in the New England Journal of Medicine that reveals early SCID detection and treatment leads to higher survival rates. Children afflicted with the immune disorder who have stem cell transplants in the first 3 1/2 months of life have better outcomes, the study said.

Comeau chairs the Massachusetts SCID newborn screening workgroup, and her research has been credited with leading the U.S. Health and Human Services to add SCID to the Recommended Uniform Screening Panel. Under Comeau’s direction, Massachusetts became second state in the country to screen newborns for SCID in February 2009. She led a pilot program that made testing for SCID available to all infants after birth. Since then, 19 other states have begun screening for SCID.

Comeau was awarded the 2013 Harry Hannon Laboratory Improvement Award in Newborn Screening by the Association of Public Health Laboratories for her research efforts on SCID detection, including the development of a DNA screen for the disorder.

UMass Medical School’s New England Newborn Screening Program conducts metabolic and genetic screening on newborn blood samples from the states of Massachusetts, Maine, New Hampshire, Rhode Island and Vermont. UMass Medical School has been operating the Massachusetts program on behalf of the Massachusetts Department of Public Health, since 1997.