MASSACHUSETTS TO SCREEN BABIES AT BIRTH FOR IMMUNE DEFICIENCY

State Department of Public Health and UMass Medical School announce new program

February 13, 2009

JAMAICA PLAIN, Mass.—Starting this month, parents of Massachusetts newborns will be offered screening for severe combined immunodeficiency (SCID), a complex immune disorder that, if left untreated, results in near certain death of the child before his or her first birthday. SCID babies are born without a developed immune system and are subject to a wide variety of life-threatening infections. However, the advance of stem cell transplantation to replace the immune system, coupled now with the opportunity to identify SCID early through newborn screening, holds the promise that affected children can lead normal, healthy lives.

The University of Massachusetts Medical School (UMMS), which operates the New England Newborn Screening Program (NENSP), works with the Massachusetts Department of Public Health (DPH) to screen the 80,000 infants born each year in the state for a variety of disorders. Through advances in screening technology in development at the NENSP, UMMS and DPH should be able to identify children born with SCID in order to facilitate early intervention. SCID is sometimes called the “boy in the bubble disease,” in reference to a 1976 movie about a child with the condition.

“We now have the opportunity to identify babies with SCID before they develop the severe infections which threaten their lives” said Lauren Smith, MD, pediatrician and DPH Medical Director, “With this knowledge we can work proactively to prevent these infections to give these babies the opportunity for a normal life.”

“Screening for SCID is possible using a molecular technology applied to a tiny blood sample taken at birth,” said Anne Comeau, PhD, Deputy Director of NENSP and Principal Investigator of the CDC-funded grant that supports the SCID Newborn Screening research. “The developing technology counts markers that indicate the health of a baby’s immune system.” Comeau credits the readiness for molecular testing to the team at NENSP and applauds the multi-institution collaboration of specialists from across the state who participate in the Massachusetts SCID Newborn Screening Workgroup for the preparation of a sound protocol for diagnosis and treatment.

Ongoing refinements to testing technology and follow-up procedures will be evaluated in a statewide research protocol run by NENSP in cooperation with DPH and clinical providers.

Under new regulations of the DPH, newborns will be tested for a mandated set of 30 conditions and offered testing for 6 optional “pilot” conditions, including SCID. Dr. Roger Eaton, Director of the NENSP, explained that the Program, which includes both development and service activities, enables rapid translation of research to public health services. Mandatory screening includes conditions for which direct benefit to the infant has been demonstrated. Pilot screening, which parents may opt for, includes conditions for which full evaluation of the value of screening is not complete, but the weight of evidence suggests benefit.

For more information about Massachusetts newborn screening, go to: www.umassmed.edu/nbs
For more information about Massachusetts newborn screening regulations, go to: http://www.mass.gov/Eeohhs2/docs/dph/legal/newborn_final_reg.doc