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Cystic Fibrosis: Screening, Diagnosis and Therapy

Cystic Fibrosis: Screening, Diagnosis and Therapy 1024 522 Pam Georgiana

Since the implementation of universal newborn screening for cystic fibrosis in all states by 2010, the expectation has been that every child with cystic fibrosis would be identified early and benefit from life-extending treatments. The reality, however, is more complex.

“Because of the complexities of the genetic causes of cystic fibrosis and significant variations in state screening algorithms, many children are still misdiagnosed or diagnosed late, often after irreversible health damage has occurred,” says Karen S. McCoy, MD, chief of the Division of Pulmonary Medicine at Nationwide Children’s Hospital and professor of Pediatrics at The Ohio State University College of Medicine.

She also says there is a misconception that new therapies have “cured” cystic fibrosis, leading some clinicians and families to overlook the condition altogether.

“Cystic fibrosis has not been cured,” Dr. McCoy says, “Primary care providers must understand the limitations of current screening methods and follow up with all patients showing symptoms, regardless of the results.”

The Mutation Gap

Mutations in the CFTR gene cause cystic fibrosis, and over 2,000 variants have been identified. However, state newborn panels differ, and most test for only the most common mutations, primarily those seen in people of European ancestry. While this screening protocol provides a  high detection rate in White infants, detection drops significantly for Black, Hispanic and Asian infants, who often have rarer mutations.

“This gap in screening has serious consequences,” says Grace R. Paul, MD, associate professor of pediatrics in the Division of Pulmonary and Sleep Medicine at Nationwide Children’s. “Delays in diagnosis are linked to poor nutritional outcomes, growth failure, severe lung damage and other complications that affect the liver and pancreas.”

Screening is Not the Same as Diagnosis

Another harmful misunderstanding is that newborn screening is diagnostic. It is not. Infant screening is a marker-based screening tool, not a definitive test. A normal newborn screen does not rule out cystic fibrosis, especially in children with symptoms or with a family history of the condition. This misconception is particularly dangerous for children whose cystic fibrosis-causing mutations may not be included in standard genetic panels.

Epidemiology of Cystic Fibrosis

Although cystic fibrosis is most prevalent in White patients (1 in 2,500 affected), it does occur in other races, including Black (1 in 15,000), Hispanic (1 in 13,500), and Asian (1 in 35,000) patients in the United States.

Despite its lower prevalence in certain ethnic groups, cystic fibrosis should remain on the differential diagnosis for any child with symptoms.

“Here at Nationwide Children’s, we have treated minority children who were diagnosed as late as 10 years of age, despite years of symptoms, because cystic fibrosis was not considered,” Dr. McCoy says.

Research has shown differences exist in the diagnosis, initiation of clinical care, participation in research and treatment options for people of non-White race.

It’s also inaccurate to assume that newer therapies, such as Trikafta, work for all patients. While these drugs significantly improve outcomes for those with common mutations, many patients are ineligible due to the rarity of their variants.

New Guidelines Focus on Screening for Everyone

The new guidelines from the Cystic Fibrosis Foundation now recommend broader screening practices. The seven recommendations include testing for all cystic fibrosis-causing variants in the CFTR2 database and timely notification of abnormal results sent to both primary care providers and cystic fibrosis specialists.

The guidelines emphasize that screening results are insufficient to diagnose cystic fibrosis, especially in patients of color. A positive result does not confirm cystic fibrosis, and a negative result does not exclude it.

“As the population of the United States becomes more diverse and mobile, early recognition and referral are critical to reducing health disparities in pediatric cystic fibrosis care,” Dr. Paul concludes.

For clinicians, it is important to keep cystic fibrosis in the differential if symptoms are present and monitor those symptoms carefully. The Nationwide Children’s Cystic Fibrosis team is always available for assistance in diagnosis.

 

References:

  1. Zvereff VV, Faruki H, Edwards M, Friedman KJ. Cystic fibrosis carrier screening in a North American population. Genetics in Medicine. 2014;16(7):539-546.
  2. McColley SA, Martiniano SL, Ren CL, et al. Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening. Journal of Cystic Fibrosis. 2023;22(1):89-97.
  3. McGarry ME, Williams WA 2nd, McColley SA. The demographics of adverse outcomes in cystic fibrosis. Pediatric Pulmonology. 2019;54 Suppl 3(Suppl 3):S74-S83.
  4. Tullis K, et al. Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation. International Journal of Neonatal Screening. 2025; 11(2):24.

 

Image credit: Adobe Stock

About the author

Pam Georgiana is a brand marketing professional and writer located in Bexley, Ohio. She believes that words bind us together as humans and that the best stories remind us of our humanity. She specialized in telling engaging stories for healthcare, B2B services, and nonprofits using classic storytelling techniques. Pam has earned an MBA in Marketing from Capital University in Columbus, Ohio.

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