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New UCLA study raises questions about genetic testing of newborns
Date:12/7/2010

WASHINGTON, DC, December 6, 2010 Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

"Although newborn screening undoubtedly saves lives, some families are thrown on a journey of great uncertainty," said UCLA sociology professor Stefan Timmermans, the study's lead author. "Rather than providing clear-cut diagnoses, screening of an entire population has created ambiguity about whether infants truly have a disease and even what the disease is."

The study, which appears in the December issue of the Journal of Health and Social Behavior, describes these families as "the collateral damage of newborn screening," an unanticipated consequence of the expansion of mandatory screening for a wide range of conditions in 2005.

"Basically you're telling families of a newborn, 'Congratulations, but your child may have a rare genetic condition. We just don't know, and we don't know when we'll know,'" Timmermans said.

Conducted with Mara Buchbinder, who earned a doctorate in anthropology at UCLA and is now an assistant professor of social medicine at the University of North CarolinaChapel Hill, the study paints a picture of families caught in limbo as they wait months for conclusive evidence that their children are out of the woods for conditions that have been associated with schizophrenia, mental retardation, heart and lung disease, coma and sudden death.

In many cases, the medical results never come; the children slowly age out of having risk factors for up to 29 metabolic, endocrine or hemoglobin conditions. But by that time, some families are so traumatized that they follow unwarranted and complicated regimens for years afterward, including waking their children up in the middle of the night, enforcing restrictive diets and limiting contact
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Contact: Daniel Fowler
pubinfo@asanet.org
202-527-7885
American Sociological Association
Source:Eurekalert

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