Cystic Fibrosis Screening Favors White Newborns

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  • BlackDoctor Pro Editors
  • 04/22/2025

CF screening favors white newborns; updated guidelines urge inclusive genetic panels for equitable diagnosis in Black, Hispanic, Asian populations. Read more.

Current newborn cystic fibrosis screening favors white children over those from other racial and ethnic backgrounds, researchers report.

Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion, causing people to produce mucus that is thick and sticky.

Cystic fibrosis screening is part of genetic panels performed on newborns, researchers noted.

However, the most common genetic variant associated with CF and featured in all genetic panels “is predominantly found in people of European descent, whereas it is much less frequent in people of other ancestries,” said co-senior author Dr. Susanna McColley, a pediatric pulmonologist at Ann & Robert H. Lurie Children’s Hospital of Chicago.

As a result, “delays more often occur in diagnosis of infants who are Black, Hispanic, or Asian, in part because these groups tend to have CF-causing gene variants that are rarer and seldom included in the newborn screening panels,” she said in a news release.

Based on this, the United States Cystic Fibrosis Foundation has released its first guideline on newborn screening for CF.

The new guideline recommends that states test for all CF-causing gene variants. At least 1,085 have been identified, researchers said.

Current state panels range from only including the single most common CF-causing gene variant to including nearly all variants, researchers noted.

“It is important to recognize that babies of any race and ethnicity can have CF,” McColley said. “Newborn screening panels need to become representative of the entire population.”

McColley said fully implementing these changes will take time and intermediate improvements will be needed.

“For example, if a state can’t screen for all gene variants that cause CF, then genetic sequencing could be performed in addition to the limited panel currently used,” she said.

The new guidelines also refer to a test that measures the levels of a pancreatic chemical called immunoreactive trypsinogen (IRT), which is increased in people with CF.

This test is part of CF newborn screening in every state, and could be used to catch cases overlooked by genetic screening, the foundation said.

Under the new guideline, if IRT is very high, CF should be suspected even if a child’s genetic testing comes back normal, unless it includes all known gene variants.

The guideline also recommends that both a child’s doctor and a CF specialist be notified of any abnormal newborn screening results.

“Time is of the essence, and we need better coordination between public health departments, primary care and CF specialists to promote timely diagnostic follow-up of positive newborn screening results,” McColley said. “It is also critical for parents to be proactive and ask their baby’s doctor about newborn screening results, and make sure that follow-up occurs as soon as possible if the results are abnormal.”

The new guidelines appear in the International Journal of Neonatal Screening.

Why is cystic fibrosis screening important for Black children?

Cystic fibrosis screening is crucial for Black children due to several key reasons. Firstly, while CF is often perceived as a predominantly white disease, it occurs in all racial and ethnic groups, including Black individuals. Historically, underdiagnosis and delayed diagnosis have been significant issues in the Black community due to lower awareness and the fact that standard genetic panels used in newborn screening often focus on mutations common in Caucasian populations, missing rarer mutations more prevalent in Black individuals.

Secondly, delayed diagnosis in Black children with CF can lead to poorer health outcomes. Early detection through newborn screening allows for timely intervention, including specialized care and treatments that can improve nutritional status, lung function, and overall quality of life. Studies have shown that delayed diagnosis in minority populations contributes to increased morbidity and mortality.

Thirdly, equitable healthcare necessitates that all newborns, regardless of their racial or ethnic background, have access to the benefits of early CF detection. Implementing comprehensive Cystic fibrosis screening for newborns that includes genetic variants more common in the Black population is a step towards addressing existing health disparities and ensuring that Black children with CF receive the care they need from the earliest possible stage. Recent guidelines emphasize the importance of inclusive screening panels to achieve equitable detection and improve outcomes for all infants with CF.

More Information

The U.S. Centers for Disease Control and Prevention has more on cystic fibrosis.

SOURCE: Children’s Hospital of Chicago, news release, April 2, 2025

Cystic Fibrosis ScreeningGenetic PanelsGenetic Variantshealth disparitiesNewborn Screening
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