Newborn screening: False positives concern parents
Families urge better communication
For some parents who find out that genetic or metabolic tests on their newborns indicate a potential problem, finding out the results were false positive doesn't always mean the stress goes away. In some cases, the lingering stress from the false-positive scare influences how the parents perceive the health of their children for years afterward.
The solution, according to psychologist Susan Waisbren, PhD, is better communication — communication about the meaning of newborn screens, the likelihood of false positives (and what "false positive" means), and the necessity of re-tests.
"The most surprising thing for us was that only 31% of fathers and 35% of mothers even knew the reasons for the repeat screenings" in their newborns, says Waisbren, of Children's Hospital Boston, and director of the New England Consortium of Metabolic Programs.
"Another thing we found is that many of the physicians, according to the parents, told them 'no news is good news' [regarding test results], and kind of left them hanging," she continues. "And the third thing we found was that many pediatricians feel uncomfortable talking about expanded newborn screenings, because they are so new and so many physicians don't have experience with them. So poor physician information leads to poor family information leads to increased stress."
Waisbren drew her findings from interviews she and colleagues conducted with 173 families who had received false-positive screening results and 67 families who had received normal newborn screening results.
What they found was that even when families who learned, after repeat tests, that their children were healthy and had no metabolic or genetic disorders, the stress of the experience colored how they viewed their children's health status.
What does 'false positive' mean?
Waisbren says with the expansion nationwide in newborn screens — many babies are screened for more than 30 metabolic and genetic conditions at birth — have come increased rates in false positive results. The results can come back as false positive for many reasons, and the first step when a positive result is received is to re-test the baby.
It is estimated that for every true positive result from a newborn screening, there are 12 false positives.
"That doesn't mean you throw the baby out with the bathwater, so to speak; because the problem — the lingering stress — is not hard to fix," says Waisbren. What is unethical, she says, is to expand newborn screening without sufficient education and follow up that includes both information and supportive counseling.
Waisbren says most families interviewed said they didn't receive information booklets about the screening, or didn't remember if they got them. She points out that while the New England Consortium offers lots of brochures and on-line information on testing, there is a lack of information available on the tests and results.
"A review of the information booklets that are available show that more are at a reading level beyond the comprehension of most families," she adds. "And if they don't get them or don't remember getting them, that's not helpful."
A result of not knowing enough about what is happening when a newborn screen comes back positive and turns out to be false positive is that the parent doesn't fully regain confidence in his or her child's health.
When interviewed six months or more after their infants' false-positive result had been ruled out, mothers in that group told the Children's Hospital researchers that they continued to worry about their children's health and future, said they perceived their children as requiring more care, and that both they and their children were less healthy, compared to responses from parents in the control group of families whose children did not receive false-positive test results.
Parents' lack of comprehension about the screening process extended to understanding what was happening and when; for example, some thought the screening was actually the blood draw, or "heel prick" itself. Waisbren said her interviews revealed that two-thirds of parents with false-positive results didn't understand why a repeat test was necessary.
"The message that families should hear is that it's unlikely that they will get a true positive result, that here is what a false positive result is, and what markers [that can cause positive results] are," Waisbren explains. "Do markers go away forever? Does it mean the mom is a carrier, or the baby is a carrier? Being a carrier is not significant, and if parents hear that, then the worry goes away."
Parents need answers quickly
Compounding incomplete information, parents said, was having to wait for results longer than they felt they should.
Some said they waited a month to get results from their child's re-test, and some said they were told "no news is good news," or worse, did not recall being told anything at all.
"Some said they were never called by the doctor's office, that they had to call themselves to get the results," Waisbren recounts. Others said they were told they would get no call unless the repeat test results were positive, so felt they were left hanging. A few parents weren't aware that their children had been re-tested.
"Families do better if they receive information sooner," Waisbren says. "They also understood more when they were able to meet personally with the physician, or got a call from the physician or nurse and could talk about the results and what they mean."
Waisbren says the take-home lessons for physicians are to ensure that: families get information about newborn screening early (rather than when they're at the hospital having the baby); the conditions that are being checked for are explained clearly; families are told what false-positive results are and why re-tests are needed; and follow-up includes making sure all questions are answered and unnecessary fears are allayed.
"I have a concern with many of the advisory boards who say the number of false positives is a reason not to expand newborn screenings," she adds. "You can do something about the false positives, but you can't do anything about the diseases if you don't screen for them."
Even parents who underwent stress as a result of the screening process told Waisbren they'd do it again.
"Looking at what parents can tolerate, they said it was a bad stress but that they would do it again" because of the importance of the diagnosis, she says.
For more information, contact:
- Susan Waisbren, PhD. Director, New England Consortium of Metabolic Programs (www.newenglandconsortium.org); Boston, MA. Phone: (617) 355-4686. Email: firstname.lastname@example.org.
Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis 2006; 29:677-682.
Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: The effect of a false-positive result. Pediatrics 2006; 117:1,915-1,921.