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Keywords

Neonatal screening, Genetic screening, Infant, Newborn, Neonatal nursing

 

Authors

  1. Kunk, Rita M. MSN, RNC

ABSTRACT

Amid controversy about cost-benefit ratios and ethical issues of discrimination and presumed consent, individual U.S. states are on the verge of expanding the newborn screen. The success of population-based newborn screening for genetic and metabolic disorders has been called the miracle of our times. Rapid scientific growth in genetic mapping and laboratory testing has resulted in increased genetic testing in the adult population as well. Caution must be exercised, however, before mass population testing of newborns is considered. Proposed testing for treatable but incurable conditions such as cystic fibrosis and human immunodeficiency virus (HIV) remains controversial. Health professionals must meet the challenge of educating themselves and others in order to advocate for children and families. Their efforts should extend to the legislative arena where decisions to amend the newborn screen are made. Nurses, genetic counselors, and other health professionals are in key positions to conduct research in this area to expand knowledge about the implications of genetic testing for the families they serve.