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AJPH First Look, published online ahead of print Mar 29, 2006
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November 2006, Vol 96, No. 11 | American Journal of Public Health 1955-1959
© 2006 American Public Health Association
DOI: 10.2105/AJPH.2005.070300

HUMAN GENES AND HUMAN RIGHTS

Newborn Screening: Complexities in Universal Genetic Testing

Nancy S. Green, MD, Siobhan M. Dolan, MD, MPH and Thomas H. Murray, PhD

Nancy S. Green is with the March of Dimes Birth Defects Foundation, White Plains, NY, and the Departments of Pediatrics and Obstetrics and Gynecology and Women’s Health, Albert Einstein College of Medicine, Bronx, NY. At the time of the study, Siobhan M. Dolan was with the March of Dimes Birth Defects Foundation, White Plains, and the Department of Obstetrics and Gynecology and Women’s Health, Albert Einstein College of Medicine, Bronx. Thomas H. Murray is with The Hastings Center, Garrison, NY.

Correspondence: Requests for reprints should be sent to Nancy S. Green, Medical Director, March of Dimes Birth Defect Foundation, 1275 Mamaroneck Ave, White Plains, NY (e-mail: ngreen{at}modimes.org).

Newborn screening (NBS)—in which each newborn infant is screened for up to 50 specific metabolic disorders for early detection and intervention—is the first program of populationwide genetic testing. As a public health intervention, NBS has greatly improved the lives of thousands of affected children.

New technologies and new economic and social forces pose significant ethical and clinical challenges to NBS. Two primary challenges concern (1) accommodating clinical and ethical standards to rapid technological developments in NBS and (2) preparing public health systems to respond to the medical advances and social forces driving expansion of NBS programs.

We describe and analyze these challenges through consideration of 3 disorders: phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, and cystic fibrosis.




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