Serving the Family from Birth to the Medical Home

The Exceptional Parent, October 2000 | Go to article overview

Serving the Family from Birth to the Medical Home


Newborn Screening: A Blueprint for the Future

Executive Summary: Newborn Screening Task Force Report

A Report From the Newborn Screening Task Force Convened in Washington, DC, May 10-11, 1999.

SPONSORING ORGANIZATIONS:

Health Resources and Services Administration * American Academy of Pediatrics

CO-SPONSORING ORGANIZATIONS:

Agency for Healthcare Research and Quality * Association of Maternal and Child Health Programs * Association of Public Health Laboratories * Association of State and Territorial Health Officials * Centers for Disease Control and Prevention * The Genetic Alliance * National Institutes of Health

Approximately 4 million infants are born yearly in the United States (US), and are screened to detect conditions that threaten their life and long-term health. Newborn screening is a public health activity aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial, as timely intervention can lead to a significant reduction of morbidity, mortality, and associated disabilities in affected infants.

Newborn screening has been universally accepted for the past 3 decades. It represented the first population-based genetic screening program, and signaled the integration of genetic testing into public health programs. Today, new advances in technology are making possible new forms of newborn screening programs, such as newborn hearing screening. These technological advances will continue to have a significant impact on the sensitivity, specificity, and scope of newborn screening programs, including newborn heelstick screening.

Challenges are anticipated with technological advances. It is likely that public pressure to deploy new diagnostic capabilities, such as DNA-based technology, will increase despite limited knowledge of potential risks and benefits. In addition, the ability to detect individuals with conditions for which there is no effective or necessary treatment is likely. Further, as the Human Genome Project is completed, the impetus and opportunity for the transition of genetic technology into practice will increase. These and other challenges will affect not only newborn screening tests, but also the entire newborn screening system, which includes short-term follow-up, diagnosis, treatment/management, and evaluation. Inherent to each of these components is an education process. A national dialogue and process is needed to support state newborn screening systems as they try to keep pace with new technology.

To address these and other issues, a National Task Force on Newborn Screening (Task Force) was convened by the American Academy of Pediatrics (AAP) with funding from and at the request of the Maternal and Child Health Bureau (MCHB), Health Resources and Services Administration (HRSA), and the US Department of Health and Human Services (HHS). The AAP was asked to convene the Task Force in recognition that pediatricians and other primary care health professionals must take a lead in partnering with public health organizations to examine the many issues that have arisen around the state newborn screening programs.

To ensure that children who are screened are linked to a medical home, it was essential that pediatricians and other primary care health professionals be involved. The AAP defines the medical home as care that is accessible, family-centered, continuous, comprehensive, coordinated, compassionate, and culturally competent. A child who has a medical home has a pediatrician or other primary care health provider who is working in partnership with the child's family to ensure that all medical, non-medical, psychosocial, and educational needs of the child and family are met in the local community.

Task Force members were appointed to represent many perspectives among those who operate programs, conduct research, and are affected by newborn screening systems. …

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