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

tivities.

Ross and co-author Darrel Waggoner, MD, associate professor of human genetics and pediatrics and medical director of human genetics at the University of Chicago Medicine, join a chorus of experts calling for expansion of newborn screenings to be initially conducted within research protocols, including oversight from a human-subject protection committee known as an institutional review board (IRB).

"By placing such conditions under an IRB protocol, it acknowledges that there is much still to be learned," Waggoner said. "It acknowledges that we need parents to be co-adventurers. It also means that additional reviews will be necessary before these conditions become entrenched in mandatory newborn screening programs."

Watchers of New York's adoption of Krabbe disease screening are closely tracking the outcomes. In the state's first four years of testing for LSD, hundreds of children were called back for further testing. Of those, 29 tested positive for Krabbe and only four were diagnosed with the infant-onset form of the disease. Another 25 children were classified as moderate to high risk for developing a later onset form of the disease, but none has developed any symptoms. New York does not follow the psychological impact on parents of these "patients in waiting."

"What we've learned from New York's Krabbe screening program is how incompletely we understand the natural history of the disease and that late onset of symptoms is likely to be more common than previously diagnosed clinically," Ross said.

LSD screening pilots in Taiwan and Italy, both of which employed research protocols including parental consent and IRB review, have provided key insights. One of the most fundamental findings, say the researchers, is that when given an option, more than 98 percent of parents elected to move forward with testing.

The observation helps strengthen the case for a proposed two-tiered screening program in Illinois.
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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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