Newborn Genetic Screening Creates Unintended Consequences
While mandatory newborn genetic screening can save lives, it can also create unintended consequences, according to a new study. When the results of such screenings are ambiguous, parents can become so anxious and uncertain that their lives and the life of their child are completely disrupted.
Newborn genetic screening can complicate lives
Newborn genetic screening is performed on every newborn to identify certain harmful or potentially fatal disorders that are not evident at birth. Many of these conditions are metabolic disorders (known as inborn errors of metabolism) or those that affect hormones or the blood. Although these conditions are rare, finding them early allows proper treatment that can make a significant difference in the life of the child.
Investigators at the University of California, Los Angeles (UCLA) report that “some families are thrown on a journey of great uncertainty,” according to UCLA sociology professor Stefan Timmermans, the study’s lead author, when they are presented with the results of these screenings. The problem is that instead of giving parents a definitive diagnosis, screening can result in ambiguity about whether a child truly has a serious disease or even what the disease is.
As a result, these families are caught in a web of uncertainty, waiting for months or years to see if their child develops a serious or even fatal disease. Although many of the children never do get the condition, some parents and children are severely traumatized by living with the uncertainty every day and have significantly altered their lives because of it.
Timmermans and co-author Mara Buchbinder, assistant professor of social medicine at the University of North Carolina-Chapel Hill, followed 75 families in California whose newborns had screening results that contained red flags regarding metabolic disorders. Forty of the infants were then determined to be “patients-in-waiting,” which meant they had not developed symptoms but their test results raised warning signals.
Some of the parents with patients-in-waiting drastically altered their lifestyles, including one father who would not let anyone except the mother care for the child and several parents who quit their jobs to care for their children.
All 50 states and the District of Columbia have mandatory newborn genetic screening for at least 21 of the 29 recommended conditions. Screening varies from state to state, so parents should ask their doctor which conditions are screened for in their state. Some of the conditions include congenital hypothyroidism, galactosemia, phenylketonuria, and cystic fibrosis, among others.
The researchers suggest the parents of patients-in-waiting be offered follow-up tests more quickly so they can perhaps reduce the trauma associated with the unintended consequences after getting ambiguous results of their child’s newborn genetic screening. Parents should also know that in some cases they can opt out of newborn genetic screenings. The Citizens Council on Health Care offers information on this option.
UCLA news release