Black, Asian infants with cystic fibrosis more likely to be missed on newborn screening
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Black and Asian infants with cystic fibrosis had the lowest rates of detection during newborn screening, whereas white infants had the highest rates, according to a study published in Pediatric Pulmonology.
Newborn screening in the U.S. includes different cystic fibrosis transmembrane conductance regulator (CFTR) variants, but the distribution of these variants differs among racial and ethnic groups, according to study background.
“This research shows clinicians that babies or children who are of race or ethnicity other than non-Hispanic white are much more likely to be missed on newborn screening,” Meghan E. McGarry, MD, MAS, associate professor of pediatrics at the University of California San Francisco Benioff Children’s Hospitals, told Healio. “Children with symptoms of cystic fibrosis should be tested for cystic fibrosis even if the newborn screening was normal.”
In a cross-sectional analysis, McGarry and colleagues analyzed 46,729 genotyped patients with cystic fibrosis (CF) or CF-related metabolic syndrome/CFTR-related disorders from the 2020 patient registry of the Cystic Fibrosis Foundation.
Researchers aimed to observe detection rate differences of seven CFTR variant newborn screening panels according to race and ethnicity, incorporating data from the 2020 U.S. census, as well as for each U.S. state. They also sought to find out how race and ethnicity impacted the rate of false-negative newborn screening tests and delayed diagnoses of CF.
When observing detection rates of at least one CFTR variant, researchers found that white infants with CF had the highest rate for all panels, ranging between 95.3% and 97%, whereas most other racial and ethnicity groups had lower rates of detection:
- American Indian and Alaskan Native: 84.7% to 91%;
- Asian: 56.2% to 77.4%;
- Black/African American: 73.4% to 86.1%;
- Hispanic: 81% to 94.1%;
- mixed-race: 86.8%-94.1%; and
- Hawaiian and Pacific Islander: 100%.
In terms of detection of two CFTR variants, the rate was lower in all panels than it was for detecting one variant. However, white patients with CF had the highest detection rate again, ranging between 71.9% to 86%, whereas the other race and ethnicity groups showed lower rates with large ranges (American Indian and Alaskan Native, 65.3%-78.5%; Asian, 25.3%-53.9%; Black/African American, 31.6%-60.8%; Hispanic, 49.5%-76%; mixed-race, 36.7%-73.2%; and Hawaiian & Pacific Islander, 71.4%-85.7%).
“While I was not surprised there were differences by race and ethnicity, I was surprised by how poorly some of the commonly used variant panels were at detecting CF variants in Asian and Black babies with CF,” McGarry told Healio.
According to researchers, decreased detection rates of one CFTR variant occurred among patients with CF-related metabolic syndrome compared with patients with CF. Researchers concluded that Black/African American and Asian patients with CF-related metabolic syndrome/CFTR-related disorders had the lowest detection rates (48.4%-64.8%).
Researchers observed lower detection rates by case for all the variant panels in states with higher racial and ethnic diversity. Hawaii had the lowest detection rate of at least one CFTR variant, Puerto Rico had the lowest detection rate of two CFTR variants and Maine had the highest rates in both measures. Wisconsin, New York and California are states that have thorough newborn screening programs, McGarry said in a UCSF-issued press release.
Out of the total cohort between 2011 to 2020, 278 (3.8%) patients had a false-negative newborn screening test and 368 (11.8%) had a delayed diagnosis occurring after 180 days, indicating they were missed on newborn screening. In this sub-analysis, researchers wrote that Black, Hispanic and mixed-race patients were overrepresented, whereas white patients were underrepresented.
“Future studies are needed to assess what is the best protocol to detect CF by newborn screening and to characterize further genetic variants that occur primarily in specific populations so those genetic variants can be included in the newborn screen,” McGarry told Healio. “Newborn screening was meant be equally beneficial to all babies of all races and ethnicities. Unintendingly, by including genetic variants in the screening process, newborn screening now contributes to health disparities.”
For more information:
Meghan E. McGarry, MD, MAS, can be reached at Meghan.McGarry@ucsf.edu.
Reference:
Non-white newborns with cystic fibrosis more likely to be missed in screening. https://www.ucsf.edu/news/2022/10/424096/non-white-newborns-cystic-fibrosis-more-likely-be-missed-screening. Published Oct. 25, 2022. Accessed Nov. 16, 2022.