New UCLA study raises questions about genetic testing of newborns

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 Carolina–Chapel 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 with other people. "Years after everything appears to be fine, parents are still very worried," Timmermans said.

For three years, Timmermans and Buchbinder followed 75 California families whose newborns received screenings that sent up red flags for diseases characterized by an inability to digest food containing fat, proteins or sugars. Of the total, 40 of the infants became what the researchers describe as "patients-in-waiting" — children who have not developed symptoms but whose genetic tests raise flags.

"The parents don't know whether their child is a false positive or they're a true positive," Timmermans said.

In one particularly poignant case of a patient-in-waiting, a father refused to allow anyone but the infant's mother to care in any way for the boy, fearing contamination that might aggravate his potential condition. More than a year after the baby's birth, the mother had not been apart from the baby. Her dream, she confessed to the researchers, was to be able one day to go on a date with her husband.