Newborn screening is a population-based public health activity housed in state
public health agencies. All states now face the challenge of expanded newborn
screening and are at different stages in approaching this challenge. Public
health agencies operate under policies determined at the state level, and
ideally, within the framework of the public health core functions of assessment,
assurance, and policy development. States vary in public health infrastructure,
newborn screening policy establishment, laboratory capacity, screening
techniques, and in the laws that define the scope of services mandated in
response to the identification of a condition. State newborn screening systems
also vary in available system components, and in financing mechanisms to pay for
these components.
The array of screening tests performed by each state varies and changes periodically. The opportunity to screen for many more disorders has risen exponentially and is likely to continue as technology in tandem mass spectrometry and DNA-based testing is further developed. All state programs now include screening tests for PKU and hypothyroidism. More than 40 programs screen for sickle cell disease and 48 screen for galactosemia. Some states screen for congenital adrenal hyperplasia, homocystinuria, maple syrup urine disease, and biotinidase deficiency and a few screen for cystic fibrosis, tyrosinemia and other conditions. Please see attached Table 1 that lists screening progress in the states. A correction has since been made to the Table. Connecticut screens for congenital adrenal hyperplasia and South Carolina will screen for MCAD effective September 1st. Other additions may have been made additionally as this report is being prepared.
Due to the challenges facing the nation's newborn screening programs, in 1999, the
Health Resources and Services Administration (HRSA) requested that the American
Academy of Pediatrics (AAP) convene a national task force on newborn screening. The recent work of this task force was published in August 2000. The report provides a thorough review and assessment of newborn screening programs in general, but does not specify which or how many diseases should be included in a newborn screening program. The American Academy of Pediatrics is urging the federal government to adopt uniform testing standards for all babies born nationwide.
The mechanism for deciding which screening tests to include as part of a population-based newborn screening system varies among the states. Thus, the disorders screened for can vary considerably from state to state. These inconsistencies reflect differences in community values, in state political and economic environments, and in public health technical capabilities. Because advances in science and technology are continually making it possible to screen for additional conditions, the decision about which tests to include in a newborn screening panel are complex.
Some Specific State Situations
Massachusetts (Maine, New Hampshire, Vermont, and Rhode Island)
In December 1997, the Commissioner of Health appointed and convened the Newborn Screening Advisory Committee to review current newborn screening practices and develop recommendations for newborn screening. As a result of the Advisory Committee process, Massachusetts has mandatory screening for 10 disorders with pilot programs for cystic fibrosis and 20 additional disorders. Several other states including: Maine, New Hampshire, Vermont and Rhode Island also have their newborn screening samples sent to the laboratory at the University of Massachusetts Medical School for expanded newborn screening. The program in Massachusetts has since been named the New England Newborn Screening Program.
Ohio
Ohio plans to offer maple syrup urine disease and MCAD in November 2000 with three additional organic acid disorders to follow. The state chose to add disorders based on recommendations from their newborn screening advisory committee.
Minnesota
Minnesota plans to expand their mandatory screening program for as many as 30 additional disorders in early 2001. Their state laboratory currently screens for five disorders. The state has purchased a tandem mass spectrometer, which is expected to be ready to run in January 2001. The final scope of screening is still subject to approval by the Commissioner.
Pennsylvania
In October 2000, Pennsylvania added screening for galactosemia and congenital adrenal hyperplasia. They now mandate screening for six disorders. Neo Gen has privately contracted with the vast majority of hospitals to perform expanded newborn screening. Pennsylvania has assembled an advisory committee to develop recommendations concerning mandatory expanded newborn screening.
North Carolina
North Carolina underwent a 20 month pilot study in July 1997 to determine feasibility of Tandem Mass Spectromety (TMS) Screening by sending specimens to Neo Gen Screening. North Carolina has since acquired the TMS equipment and now screens for Amino Acid, Fatty Acid Oxidations, and Organic Acid Disorders in addition to five other mandated conditions.
New Jersey
New Jersey convened a Newborn Screening Advisory Panel in April 2000 to review newborn screening and the many additional disorders for which screening exists and to make recommendations concerning best practices in newborn screening. Neo Gen has privately contracted with five New Jersey hospitals to provide expanded newborn screening since the panel convened.
It is evident that differences and disparities exist with regard to newborn screening on a national level. An updated, consistent national agenda is needed to ensure that state based newborn screening systems understand and keep pace with new technology. This national agenda could serve as a guide for states seeking to strengthen their newborn screening systems, and provide more equitable access to this public health preventive program for our newborns. Until national guidelines are given, states must continue to address the technological advances, public interest and advocacy concerning newborn screening that are presented to them now, individually or on a regional basis.
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