Mandatory screening for rare genetic diseases is putting undue stress on the parents of infants who show risk factors but no symptoms of the disease, finds a study published in this month’s Journal of Health and Social Behavior.
Researchers at UCLA spent three years following the families of 70 infants who had tested positive in mandatory newborn screening. Although 40 of the infants failed to develop any symptoms of the disease, the parents of these children, whom the researchers dubbed "patients-in-waiting," lived in a state of limbo, anxiously waiting to see how their children would fare in the genetic lottery.
"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," said lead author Stefan Timmermans.
The screening is intended to help parents should their children develop symptoms of these rare diseases. But in some families, parents live in fear of a day that may never come. Even as children grow out of risk factors and doctors are ready to stop preventative measures, parents " are reluctant to give them up because they come to believe that they’re keeping their child disease-free. Over and over again, we saw parents and doctors at odds," he said.
Some of the more traumatized parents turned down job opportunities or rearranged their lifestyle just in case their child should some day develop the rare condition.
The study questions the value of this expanded mandatory testing in newborns, and suggests more efficient follow-up tests for babies who test positive, to help provide answers to the anxious parents.