NEWBORN SCREENING REPORT ADDRESSES INCONSISTENCIES AND CONTROVERSIES

Press Release

NEWBORN SCREENING REPORT ADDRESSES INCONSISTENCIES AND CONTROVERSIES

Below is a news release on a technical report published in the August issue of Pediatrics, the peer-reviewed scientific journal of the American Academy of Pediatrics (AAP).

For Release: Monday, August 7, 2000, 5:00 p.m. (ET)

CHICAGO -The definition of comprehensive newborn screening is changing rapidly and state public health programs may not be keeping up, according to a new report published as a supplement to the August issue of Pediatrics, the peer-reviewed scientific journal of the American Academy of Pediatrics (AAP). (see also: Preface and Executive Summary)

A national task force of health care experts released the report outlining a national agenda for strengthening newborn screening programs. Each year the 4 million infants born in the United States are screened shortly after birth to detect a variety of congenital conditions. This process is designed to prevent serious health problems, including death and mental retardation, with early treatment of detected disorders.

The AAP and the federal Health Resources and Services Administration co-sponsored the Newborn Screening Task Force meeting in Washington, DC, in May 1999.

In the last decade, advances in technology, increased advocacy efforts, and dramatic discoveries in the field of genetics have significantly changed the newborn screening environment. The task force report evaluates ethical, legal, social, and economic issues surrounding state screening programs. It emphasizes the importance of sound public health principles and an adequate public health infrastructure. In addition, the report strongly advocates for children to be linked to a medical home to ensure access to, and continuity of, appropriate care and treatment.

The report identifies many issues with which physicians, public health officials, parents and politicians have had to grapple. Among these:

The need for all state newborn screening systems to be current
Programs must keep pace with new technology, which requires involvement from experts in science, medicine, public health, law and ethics, as well as public and government officials at the federal, state and local level. New tests that are currently available or on the horizon, such as tandem mass spectrometry and DNA-based testing, make it possible to use one test or a simpler test to detect a larger group of metabolic and genetic conditions and risk factors. Such advances bring with them an array of questions about how best to use new technologies to screen newborns and to improve children's health.
The need for uniformity
Currently all states require that newborns be screened for selected disorders, but requirements vary from state to state. For example, only a few states currently screen for cystic fibrosis, toxoplasmosis or HIV. Universal hearing screening is done in about half of the states. (A table showing the status of U.S. screening by state is attached.)
Ethical concerns surrounding residual blood samples Enough blood is obtained when performing heelstick newborn screening to permit repeat testing when necessary. In most cases, blood remains after testing, raising questions about its availability for other uses, including research-an important topic of debate. Other potential uses for samples include clinical and forensic testing (in cases where the sample my represent the only biologic specimen from the child).
Privacy and consent issues
Educational information available to parents about the screening process varies. The task force states that before newborn screening, parents (on behalf of their children) have a right to be informed about screening, and have the right to refuse screening. They also have the right to confidentiality and privacy protections for information contained in all newborn-screening results.
The need for public awareness
Parents need to be informed about the benefits and potential risks of the tests and treatments involved in newborn screening, policies about storage and use of specimens, and the mechanism by which families will receive test results. All prospective parents should be made aware of the newborn screening process.

Among the panel's recommendations: effective newborn screening systems require an adequate public health infrastructure and must be integrated with the health care delivery system. In addition, public health agencies must involve health professionals, families, and the general public in the development, operation, and oversight of newborn screening systems.

EDITOR'S NOTE: The co-sponsors of this effort were other HHS agencies including the National Institutes of Health (NIH), the Centers for Disease Control and Prevention (CDC), and the Agency for Healthcare Research and Quality (AHRQ); the Genetic Alliance, which is a consortium of consumer groups; and national public health organizations including the Association of State and Territorial Health Officials, the Association of Maternal and Child Health Programs, and the Association of Public Health Laboratories.

Related Information:

"What is a Medical Home?" Fact Sheet (PDF file - requires Adobe Acrobat Reader)

The American Academy of Pediatrics is an organization of 55,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well-being of infants, children, adolescents and young adults.