Genetic screening of newborns…

…. 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.” […]
[T]he 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.

Why the hell would they do this to themselves, you ask?

The advent of new screening technologies in the late 1990s vastly increased the number of potential diseases that could be detected with a blood sample easily obtained by pricking the heel of a newborn. Genetic testing of newborns got another shot in the arm in 2005 when the American College of Medical Genetics called for mandatory screening of 29 conditions and 24 sub-conditions. By 2009, all 50 U.S. states and the District of Columbia screened for at least 21 of the 29 recommended conditions, and the full recommendations had been adopted by 44 states, including California.