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Parents seen as critical stakeholders in expanding newborn screening
Date:6/20/2012

Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

Nearly all infants in the United States undergo a heel prick within days of birth for a simple blood test to detect rare genetic disorders. For decades, state-based mandatory newborn screening programs have focused on disorders such as phenylketonuria (PKU) or hypothyroidism in which a prompt diagnosis and treatment could prevent disability or even death.

In recent years, advocacy groups have been pushing to expand newborn screening to include lysosomal storage diseases (LSDs), a group of rare metabolic disorders, despite the lack of consensus on which children should be treated or the effectiveness of available therapies. With the high degree of uncertainty around LSDs, many medical ethicists as well as some genetic health professionals and public health officials are questioning the clinical value and the morality of screening mandates.

In an article published by The Journal of Pediatrics, researchers from the University of Chicago Medicine argue that parents should be critical stakeholders in the expansion of newborn screening. Despite federal recommendations against the addition of these conditions, LSDs have been tacked on to the screening panels in several states and strong lobby efforts are under way across the nation with little or no consideration for parental consent or even notification.

"A problem with incorporating LSD screening into state screening programs is the 'all-or-nothing' constraint," said co-author Lainie Friedman Ross, MD, PhD, professor of pediatrics, medicine and surgery, and assistant director of the MacLean Center for Clinical Medical Ethics at the University of Chicago. "Parents cannot say that they want their child to be tested for some conditions and not others. There is simply not enough a
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Contact: Tiffani Washington
tiffani.washington@uchospitals.edu
773-702-5865
University of Chicago Medical Center
Source:Eurekalert

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