14 DAY TRIAL // In a new investigation, researchers at the University of California in Los Angeles (UCLA) show that the mandatory genetic screening newborns need to undergo is causing a lot of uncertainty among parents, and society in general.
The genetic tests are being performed to determine whether the newborns are at risk of rare genetic diseases, but cause great insecurity and confusion among parents when the results are positive.
Things are especially hard when the babies test positive for risk factors, but exhibit none of the symptoms associated with a specific disorder of this type. This goes against the very purpose of the tests.
The UCLA scientists detail their findings in a paper published in the December issue of the esteemed Journal of Health and Social Behavior, e! Science News reports.
“Although newborn screening undoubtedly saves lives, some families are thrown on a journey of great uncertainty,” explains the lead author of the new study, UCLA professor of sociology Stefan Timmermans.
“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, he goes on to say.
In the research paper, the UCLA group refers to families as the unanticipated victims of the mandatory expansion of genetic tests. They are basically “the collateral damage of newborn screening,” the team believes.
Initially developed to cover a relatively narrow range of conditions, the tests were extended to cover a large number of potential genetic disorders 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 adds.
Some of the conditions the screenings test for include schizophrenia, mental retardation, heart and lung disease, coma and sudden infant death syndrome (SIDS). No parent wants to live with such threats looming over their children's head.
They obviously become very worried and protective, and subject their kids to diets, and restrictive regimens, which oftentimes include the limiting of contact with the outside world.
“When the test results ultimately suggest the risk is nothing or not as significant as with patients who are symptomatic, the physicians are ready to let go of preventative measures,” the team leader says.
“But the 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 adds.
One of the most important things that could be implemented to sort of fix this situation would be to speed up the diagnostics process, and not let it hang over families' heads for years, the experts add.