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Special issue on cystic fibrosis in The Journal of Pediatrics

October 04, 2005

Cystic fibrosis is a common, fatal genetic disease in which a gene causes the body to produce abnormally thick, sticky mucus. This affects mainly the lungs, causing severe breathing problems, and the digestive system, causing inadequate digestion and absorption of nutrients. In the United States, approximately 30,000 people have cystic fibrosis and roughly one child of every 3,500 is born with it. The Journal of Pediatrics has published a special supplement on current experience in treating cystic fibrosis and the benefit of newborn screening for cystic fibrosis. The supplement consists of 23 commentaries, reviews, and original research papers derived from a workshop held in Atlanta, Georgia, November 20-21, 2003, co-sponsored by the Centers for Disease Control and Prevention and the Cystic Fibrosis Foundation. In addition, the regular issue of The Journal includes 11 articles on cystic fibrosis that cover such topics as a reduction in birth rates since the onset of genetic testing, decreased birth weights and increased risk of preterm birth, an alternative strategy for screening newborns at reduced cost, and projects intended to improve life expectancy and quality of life through consistent, high-quality care.

Reduction in birth rates

A paper from Canada comments on a reduction in cystic fibrosis birth rates that has been observed since the onset of genetic testing. The paper, from Anne Dupuis and colleagues at the Hospital for Sick Children, Toronto, and Dalhousie University, Nova Scotia, shows that the overall cystic fibrosis birth rate was stable from 1971-1987 and, beginning in 1988, one year after identification of the cystic fibrosis transmembrane conductance regulator gene, birth rates started a linear decline to an estimated rate of 1 in 3,608. Cystic fibrosis birth rates appear to have stabilized in the last few years, but the authors speculate that further decline may occur with implementation of carrier screening in the general population. The title of the article is "Cystic fibrosis birth rates in Canada: A decreasing trend since the onset of genetic testing."

Gestational and neonatal characteristics

A group of authors led by Filippo Festini report the gestational and neonatal characteristics of children with cystic fibrosis. This was a retrospective cohort study of all children with cystic fibrosis born in Tuscany, Italy, from 1991 to 2002 that compared them to the entire population of non-affected children born in the same period. There were 70 children with cystic fibrosis and 290,059 non-affected children. The mean birth weight of the newborns with cystic fibrosis was 246g lower than the mean birth weight of the non-affected population. The children with cystic fibrosis also had a higher risk of being preterm with a relative risk of 2.62 associated with a lower birth weight and an increased risk of being small for gestational age. The reduced birth weight was present even in the absence of prematurity and the full-term newborns with cystic fibrosis were lighter than the full term non-affected babies. The reduced birth weight in newborns with cystic fibrosis has been reported before, but the greater risk of being preterm is a new observation. The title of the article is "Gestational and neonatal characteristics of children with cystic fibrosis: A cohort study."

Screening newborns

An alternative strategy for screening newborns for cystic fibrosis has been studied in France. Sarles and colleagues from several centers report on the strategy of combining pancreatitis-associated protein (PAP) with immunoreactive trypsinogen (IRT) assays on newborn blood screening cards. The screening strategy was testing in all newborns from 5 French regions with 204,749 births. Results showed that combining the results of IRT with PAP and recalling patients for sweat testing when the IRT was greater than 100 ng/mL and PAP greater than 1.0 ng/mL would have a similar performance to the IRT/CFTR mutation strategy with reduced cost and without the genetic issue of identification of carrier through mutation analysis. The title of the article is "Combining immunoreactive trypsinogen and pancreatitis-association protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis."

Improving outcomes

In North America, considerable effort is going into improving outcomes in cystic fibrosis by improving the consistency and quality of care. It has been estimated that more than a 10-year increase in average life expectancy could be achieved using current approaches if they were applied consistently according to best practice. A leader in this effort, Michael Schechter from Brown University, was invited to write a commentary in which he describes developing optimal approaches to care and uses cystic fibrosis as an example of what can be achieved. Schechter presents several quality improvements that are in progress in cystic fibrosis such as the "Learning and Leadership" collaborative funded by the Cystic Fibrosis Foundation. Schechter's article is the subject of an accompanying editorial by James Acton; he reinforces the concept that unwarranted variation in care leads to adverse outcomes in healthcare and that it is possible to improve results through system-based changes that support evidence-based, patient-centered care. The title of the article is "Improving subspecialty healthcare: Lessons from cystic fibrosis." The title of the editorial is "Improvements in healthcare: How can we change the outcome?"

Elsevier Health Sciences