Cystic Fibrosis Screening Favors White Newborns

by Posted on
cystic fibrosis newborn screeningcystic fibrosis screening cystic fibrosis screening at birth infant screening for cystic fibrosis newborn cystic fibrosis screening test cystic fibrosis infant screening cystic fibrosis screening pregnancy genetic screening for cystic fibrosis cystic fibrosis carrier screening cystic fibrosis carrier screening test cystic fibrosis neonatal screening cystic fibrosis newborn screening false positive rate screening test for cystic fibrosis neonatal screening for cystic fibrosis newborn screening cystic fibrosis newborn screening for cystic fibrosis newborn screening of cystic fibrosis prenatal cystic fibrosis screening cystic fibrosis screening in newborns cystic fibrosis screening test newborn screening test cystic fibrosis when did cystic fibrosis newborn screening start when did newborn screening for cystic fibrosis start cystic fibrosis in newborn screening pregnancy cystic fibrosis screening abnormal cystic fibrosis newborn screening cystic fibrosis screening for pregnancy cystic fibrosis screening in pregnancy cystic fibrosis screening test in pregnancy can cystic fibrosis be missed in newborn screening can newborn screening miss cystic fibrosis can the newborn screening for cystic fibrosis be wrong cpt code for cystic fibrosis carrier screening cpt code for cystic fibrosis screening cystic fibrosis carrier screening cpt code cystic fibrosis carrier screening icd 10 cystic fibrosis false positive newborn screening cystic fibrosis newborn screening results cystic fibrosis newborn screening test cystic fibrosis positive on newborn screening cystic fibrosis screening icd 10 does tricare cover cystic fibrosis screening embryo screening for cystic fibrosis false positive newborn screening cystic fibrosis icd 10 code for cystic fibrosis screening icd 10 code for cystic fibrosis screening in pregnancy icd 10 for cystic fibrosis screening irt cystic fibrosis newborn screening irt cystic fibrosis screening is cystic fibrosis screened at birth is cystic fibrosis tested on newborn screening labcorp cystic fibrosis carrier screening screening cystic fibrosis screening for cystic fibrosis during pregnancy screening for cystic fibrosis icd 10 screening for cystic fibrosis in pregnancy screening of cystic fibrosis testing and screening for cystic fibrosis what type of screening is done for cystic fibrosis when did cystic fibrosis screening start when did they start screening newborns for cystic fibrosis when was cystic fibrosis added to newborn screening acog cystic fibrosis screening guidelines antenatal screening for cystic fibrosis are all newborns screened for cystic fibrosis are newborns screened for cystic fibrosis carrier screening for cystic fibrosis cpt for cystic fibrosis screening cystic fibrosis antenatal screening cystic fibrosis carrier screening cost cystic fibrosis embryo screening cystic fibrosis newborn screening abnormal cystic fibrosis newborn screening accuracy cystic fibrosis newborn screening false negative cystic fibrosis newborn screening false negative rate cystic fibrosis prenatal screening cystic fibrosis screening blood test cystic fibrosis screening cost cystic fibrosis screening during pregnancy cystic fibrosis screening for children cystic fibrosis screening test newborn cystic fibrosis testing and screening does newborn screening test for cystic fibrosis false positive cystic fibrosis newborn screening how accurate is cystic fibrosis screening how accurate is newborn screening for cystic fibrosis irt screening for cystic fibrosis is cystic fibrosis in newborn screening is cystic fibrosis part of newborn screening newborn cystic fibrosis screening newborn screening cystic fibrosis false positive newborn screening test for cystic fibrosis positive cystic fibrosis newborn screening positive newborn screening for cystic fibrosis screening for cystic fibrosis what is cystic fibrosis screening what is cystic fibrosis screening during pregnancy 2013 cpt codes for cystic fibrosis screening abnormal newborn screening for cystic fibrosis acmg cystic fibrosis carrier screening
Adobe Stock

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

Read More About Pediatrics