Newborn screening is a public health program in which infants are screened for various metabolic, genetic, and developmental disorders shortly after birth. Through newborn screening, doctors may identify potential disorders or health issues before symptoms appear. This may also contribute to early treatment and, thus, better overall outcomes. But is newborn screening equally beneficial across different groups and backgrounds? According to a research post from the University of California San Francisco (UCSF), newborn screening may not be as efficacious for those of different backgrounds or racial or ethnic groups, particularly in conditions such as cystic fibrosis (CF). 

Problems with Newborn Screening

As explained above, identifying a certain disease can contribute to earlier treatment and better outcomes. In cystic fibrosis, lung damage can already be seen in infants as young as four weeks old. Therefore, a diagnosis can help these infants be treated earlier and reduce or even prevent lung damage. One CFTR gene mutation is needed for newborn screening panels to identify and diagnose CF.

However, there seems to be a clear racial and ethnic disparity in the diagnostic process. UCSF explains that a new research study, published in Pediatric Pulmonology, explored the prevalence of CF diagnoses in white infants as compared to non-white infants. 

For the study, researchers sourced genetic mutations from 46,729 individuals from the 2020 Cystic Fibrosis Foundation Patient Registry. Next, the research team analyzed how many individuals experienced a delayed diagnosis, as well as how many received false-negatives. The study found that cystic fibrosis-related mutations were found in 95-97% of white infants, 81-94% of Hispanic infants, 84-91% of American Indian and Alaska Native infants, 73-86% of Black infants, and just 56-77% of Asian infants. The data clearly shows that newborn screening is significantly more likely to identify CF in white infants. 

Dr. Meghan McGarry, MD, notes that this difference could be caused by newborn screenings specifically testing for CFTR variants that are more common in white individuals. However, certain mutations are more common in non-white groups, though these mutations are not always included in newborn screening. 

Because CF is also more common in white individuals, the newborn screening issues – paired with a clinical bias against diagnosing CF in diverse communities – creates an environment in which Black, American Indian and Alaska Native, Asian, and Hispanic are at higher risk of long-term lung damages, worse outcomes, and CF-related complications. 

About Cystic Fibrosis (CF)

Cystic fibrosis (CF) is a progressive genetic disorder that can cause lung, pancreas, and other organ damage. Normally, “healthy” mucus is slippery. In cystic fibrosis, CFTR gene mutations impact the protein that regulates salt movement. As a result, those with CF have thick, sticky mucus that can clog airways, trap bacteria, prevent digestive enzyme release, and cause other negative health impacts. Symptoms and characteristics of CF can include:

• Shortness of breath
• Nasal polyps
• Persistent coughing or wheezing
• Exercise intolerance 
• Frequent lung infections 
• Male infertility
• Constipation 
• Greasy stool
• Clubbed fingers and toes
• Poor weight gain
• Salty tasting skin
• Meconium ileus (in infants)