PEDIATRICS Vol. 121 No. 1 January 2008, pp. 192-217 (doi:10.1542/peds.2007-3021)

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CLINICAL REPORT

Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes—Implications for the System

Advances in newborn screening technology, coupled with recent advances in the diagnosis and treatment of rare but serious congenital conditions that affect newborn infants, provide increased opportunities for positively affecting the lives of children and their families. These advantages also pose new challenges to primary care pediatricians, both educationally and in response to the management of affected infants. Primary care pediatricians require immediate access to clinical and diagnostic information and guidance and have a proactive role to play in supporting the performance of the newborn screening system. Primary care pediatricians must develop office policies and procedures to ensure that newborn screening is conducted and that results are transmitted to them in a timely fashion; they must also develop strategies to use should these systems fail. In addition, collaboration with local, state, and national partners is essential for promoting actions and policies that will optimize the function of the newborn screening systems and ensure that families receive the full benefit of them.

Key Words: newborn screening • genetic disorders • children with special health care needs • medical home

Abbreviations: AAP—American Academy of Pediatrics • ACMG—American College of Medical Genetics • ACHDGDNC—Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children • MCHB—Maternal Child Health Bureau • HRSA—Health Resources and Services Administration • PCP—primary care pediatrician • CPT—Current Procedural Terminology • ACOG—American College of Obstetricians and Gynecologists • SNSAC—state newborn screening advisory committee

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