Current Topics in Newborn Screening: Political Issues. (Editorial Commentary)
Sorrentino, John, The Exceptional Parent
State health departments have a long-standing involvement with newborn screening (NBS). Like childhood immunizations, lead screening, and water testing, NBS is considered to be an essential public health service. In the United States, the earliest screening laboratories were part of state health departments and were partially funded by the federal government to detect phenylketonuria (PKU) and to help reduce mental retardation. Today, all states require that every newborn be tested at birth for specific genetic conditions at birth.
Individual state health departments establish screening requirements based on an assessment of disease incidence, benefits of early treatment, cost, laboratory capabilities, and other factors. Some states have determined that newborns should be screened for as few as three treatable genetic conditions, while others have used the same evaluation process and determined that it is appropriate to offer NBS for more than 30 treatable conditions. As a consequence, a baby's treatable genetic condition that is identified through NBS in one state may go undetected and cause irreversible health damage in another. It is estimated that more than 2,000 newborns per year in the United States are being harmed unnecessarily, or are dying prematurely, because of state-to-state differences in screening practices.
The role of state health departments in improving the quality of life for newborns and their families is indisputable. During the last 35 years, state health department laboratories and government-operated newborn screening programs have helped to prevent disabilities and premature death in thousands of children. Unfortunately, while continuing advances in technologies and therapeutic interventions are making it practical to identify and treat a rapidly expanding list of genetic conditions, most newborns don't have access to these state-of-the-art services because of problems inherent in the current newborn screening system.
More than 99 percent of babies are born without a life-compromising genetic condition. As a result, the problems with the NBS system exist outside of the public eye. Families and their children with treatable disorders that haven't been detected by NBS usually become aware of the shortcomings of the system only through their own personal misfortune.
During the last two years, the work of concerned parents, professional societies, and private screening laboratories has begun to draw attention to this major public health problem. Last year, several reports in national media explained how newborns in the US are suffering irreversible health damage and premature death because of the lack of comprehensive newborn screening for treatable genetic diseases. Earlier this year, and more than a year after the original stories, ABC News reported that the disparity in NBS services continues to be a major public health problem in the United States.
In an effort to prevent unnecessary disability in children, private screening laboratories with expanded NBS capabilities are trying to fill the void between the current service offerings of government-operated NBS programs and state-of-the art practices. In some instances this approach has been very successful in helping many children and their families. For example, in Pennsylvania the state health department contracts with a private laboratory to provide mandated NBS services as part of its NBS program. Hospitals in Pennsylvania are then given the option to contract with this private screening laboratory to obtain expanded screening services to fill the gap between the state mandate and current state-of-the-art practices. As a result of this progressive program, more than 95 percent of the children born in Pennsylvania are being screened for more than 30 treatable genetic conditions.
Unfortunately, most state health departments haven't adopted this progressive approach to making expanded newborn screening services readily available in their states. …