Revised Guidelines on the Diagnosis of Cystic Fibrosis

Patients diagnosed and treated earlier may experience better outcomes

Cystic fibrosis (CF), a genetic disease passed to a child through both parents’ chromosomes, affects approximately 1 in 4,000 newborns in the U.S. each year. As of 2010, all U.S. states are performing newborn screening (NBS) for CF in order to diagnose and start treatment early; babies who test positive during NBS require confirmatory tests. These tests are of two types: sweat tests that show the level of sweat chloride concentration, and genetic testing to confirm mutations in the gene for the CF transmembrane conductance regulator (CFTR).

Although many screened infants can be clearly diagnosed using these follow-up tests, the results may prove inconclusive, or yield no evidence of the disease. General pediatricians and other physicians without specialized knowledge about CF are often the first to receive abnormal newborn screening tests, and also need information about next steps when children present with symptoms of CF.

In recent years, a substantial body of research has provided insight into less common CFTR mutations, some of which don’t correlate neatly with symptoms and levels of disease in affected individuals. Experts determined that some CF-related conditions had different names based on country of diagnosis, and that the original guidelines published in 2008 were not being used consistently.

To improve diagnosis and achieve standardization in definitions worldwide, the Cystic Fibrosis Foundation convened an international committee of experts in 2015 to develop clear and actionable consensus guidelines on diagnosis, and to clarify diagnostic criteria and terminology for associated disorders. The consensus statements resulting from the committee’s deliberations are published in the Journal of Pediatrics, February 2017.

Says Susanna McColley, MD (pictured at left), associate director of the CF Center at Lurie Children’s, “It’s most important for physicians to be aware of the changes in the diagnostic criteria, so that they are diagnosing and treating patients with CF as early as possible, and avoiding treatment of individuals who don’t need it. In cases where the diagnosis is unclear, we strongly encourage physicians to consult with experts at CF centers. We have trained clinicians and staff members who are ready to help with diagnosis and treatment.” McColley served on the consensus committee and is a co-author on two of the resulting publications.

The Journal of Pediatrics February 2017 supplement issue is entitled “Cystic Fibrosis Foundation Consensus Guidelines for Diagnosis of Cystic Fibrosis” and is edited by Philip M. Farrell and Terry B. White. Hara Levy, MD, a clinician-researcher at Lurie Children’s and a member of the Human Molecular Genetics Program at the Stanley Manne Children’s Research Institute, the research arm of Lurie Children’s, is a member of the consensus committee and co-author on a publication in the issue. The Levy lab focuses on integrating genetic and genomic analyses to advance understanding of how environmental, genetic, and epigenetic factors influence the progression of CF.

Susanna McColley, MD, is an attending physician in the Division of Pulmonary Medicine at Lurie Children’s, Associate Chief Research Officer for Clinical Trials at the Manne Research Institute; Associate Director for Child Health of the Northwestern University Clinical and Translational Sciences (NUCATS) Institute and Professor of Pediatrics at Northwestern University Feinberg School of Medicine.

Citations: Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017 Feb;181S:S4-S15.e1. doi: 10.1016/j.jpeds.2016.09.064.

Farrell PM, White TB, Howenstine MS, Munck A, Parad RB, Rosenfeld M, Sommerburg O, Accurso FJ, Davies JC, Rock MJ, Sanders DB, Wilschanski M, Sermet-Gaudelus I, Blau H, Gartner S, McColley SA. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr. 2017 Feb;181S:S33-S44.e2.  doi: 10.1016/j.jpeds.2016.09.065.

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