Cystic fibrosis

Abstract

This issue of The Journal of Pediatrics contains many reports concerning cystic fibrosis (CF). An accompanying supplement summarizes a meeting held in Atlanta, Georgia, November 2003 entitled “Cystic Fibrosis Newborn Screening: Evidence for Benefit and Current Experience,” a workshop co-sponsored by the Centers for Disease Control and Prevention and the Cystic Fibrosis Foundation. Authors with papers in the supplement were encouraged to submit related articles for the regular pages of The Journal and these went through the standard review process. In addition, several other papers were ready in time for the deadline of this issue. 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 CF birth rate was stable from 1971-1987 and, beginning in 1988, one year after identification of the CF transmembrane conductance regulator gene, birth rates started a linear decline to an estimated rate of 1 in 3,608. CF 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. A group of authors led by Filippo Festini report the gestational and neonatal characteristics of children with CF. This was a retrospective cohort study of all children with CF born in Tuscany, Italy, from 1991 to 2002 that compared them to the entire population of non-CF affected children born in the same period. There were 70 children with CF and 290,059 non-CF children. The mean birth weight of the newborns with CF was 246 g lower than the mean birth weight of the non-CF population. The children with CF 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 CF were lighter than the full term non-CF babies. The reduced birth weight in newborns with CF has been reported before, but the greater risk of being preterm is a new observation. An alternative strategy for screening newborns for CF 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. Returning to North America, considerable effort is going into improving outcomes in CF 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 entitled “Improving Subspecialty Healthcare: Lessons from Cystic Fibrosis.” Schechter describes developing optimal approaches to care, and he uses CF as an example of what can be achieved. Schechter presents several quality improvements that are in progress in CF 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. Acton is participating in a healthcare quality improvement project at Cincinnati Children's Hospital Medical Center that is funded by the Robert Wood Johnson Foundation and draws on the experience of his team.