Caregivers cite information delays after CF newborn screening
Most surveyed report thorough evaluations, good relationships with teams
More than a third of caregivers of children with cystic fibrosis (CF) reported delays in getting information about the diagnosis after a positive newborn screening (NBS) test for the disease, according to a study in the U.S.
Caregivers mentioned delays in receiving their child’s CF diagnosis and in being informed that race or ethnicity is associated with risk of having the disease. About a quarter considered the delay in diagnosis related to their race or ethnicity.
Still, caregivers generally reported that their children had a thorough evaluation for CF and that they were able to build a trusting relationship with the CF care team.
“Further research is needed to determine why these delays persist and whether improving caregiver experience and enhancing access to care can reduce these delays,” the researchers wrote.
The study, “The Newborn Screening Experience of Caregivers of Children With Cystic Fibrosis in the United States: A Cross-Sectional Survey,” was published in Pediatric Pulmonology.
Online survey measures experience with CF newborn screening, diagnosis
Early CF diagnosis through NBS has contributed to improved outcomes in people with CF. However, barriers persist to having all infants in the U.S. receive early diagnosis and CF treatment, according to the researchers. These include patients from minority racial and ethnic groups having rare CF-causing mutations that are not included in panels used in NBS, and children with CF being seen at a CF center when they are older than one month, which is later than guidelines recommend.
The team conducted an online survey on 383 caregivers, mainly parents, of children with CF recruited through nonprofits, including the CF Research Institute, the National Organization of African Americans with CF, and the Center for Latinos with CF. The survey asked 29 questions related to caregivers’ experiences receiving NBS results and the first visit for CF evaluation, and their perceptions of the diagnostic process.
Most participants were white (71%), while 18% were Black/African American, 8% were Hispanic/Latino/Spanish, and 4% Asian or other race. At the time of the survey, 44% of their children were aged 6-9, another 27% were 3-5, and 16% were 10-12. Thirteen percent were 0-2, and 1% were 13.
Caregivers more frequently reported their children’s primary care provider was the one who contacted them about the NBS result and that they were informed in person. Less often, caregivers reported contact from the CF center or by phone.
Some 94% of participants said they were informed about their NBS result and how likely it was for their child to have CF, and 93% said they had been told about their children’s DNA, CFTR mutation or genetic analysis. More than half said the provider did not mention their race or ethnicity as related to the likelihood that their children had CF.
After caregivers were notified of a positive NBS result, 34% of children were first seen for a CF evaluation after four to seven days, 21% within three days, and 43% eight or more days after NBS results. This evaluation commonly involved a sweat test (64%) and/or a visit with a CF provider (57%). Almost all caregivers felt their children had comprehensive evaluations.
In most cases, CF diagnosis was confirmed before or on the same day as the visit, or within two weeks. The majority of participants considered the information came at the right time (63%), and that the diagnosis process was smooth (69%) and helped them build a strong relationship with their children’s care team (74%). However, about one-third felt the diagnosis was delayed, and 26% considered the delay related to their race or ethnicity.
“This delay from parental notification of an abnormal NBS to initial evaluation for CF can contribute to delayed diagnosis and initiation of therapy, suggesting that efforts to assure CF appointment availability, coupled with caregiver knowledge and resources to access care, may reduce late diagnosis of CF and improve health outcomes,” the researchers wrote.
Several differences were seen related to caregiver race or ethnicity and education level.
Latino/Hispanic participants less frequently responded that the person who informed them of NBS result mentioned their children’s DNA relative to white caregivers (75% vs. 97%), but were more likely to receive a confirmation of diagnosis before or on the same day of the first visit (34% vs. 16%).
Some 72% of Black/African American (non-Latino) participants reported that the person who gave information about the likelihood of CF did not mention their race, ethnicity, or family background, compared with 50% of white (non-Latino) participants.
The proportion of caregivers reporting their experience helped them build a trusting relationship with healthcare providers was similar in white and Black/African American (76%), but lower in people of Latino/Hispanic ancestry (55%).
Caregivers with college degrees or higher most frequently reported their children were evaluated for CF within three days of NBS result notification than those with lower education levels, but they were less likely to say they built a trusting relationship with the care team.
The “findings show the need for education and practice changes in both primary care and CF center settings,” the researchers wrote.
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