Farrell Advocates Cystic Fibrosis Screening for Newborns in Ireland
Farrell has advocated for newborn testing for years and has made several trips to Ireland to push the cause ahead.
"I'm delighted that the Republic of Ireland is moving ahead," said Dr. Farrell, who was in Ireland the week of June 15 to finalize
Dr. Farrell, far right, pictured with (from left): Paul Higgins, Cystic Fibrosis Association of Ireland; Counsellor Dennehy Cork; Godfrey Fletcher, CEO of the Cystic Fibrosis Foundation of Ireland
planning and to give a talk at Our Lady's Hospital for Sick Children near Dublin.
Farrell, MD, PhD, professor of pediatrics and population health sciences, is an expert in CF, a genetic disorder that ultimately damages the lungs and digestive system by producing very thick mucus.
CF is unusually common in Ireland. Approximately one in 1,500 Irish people will develop the disease, in comparison with about one in 4,000 in the United States, according to Farrell. The reason for the increased incidence of CF in Ireland is not known, but Farrell believes that it may be caused by environmental factors which either cause the CFTR gene to mutate or increase its frequency.
CF can lead to premature death, but with newborn screening and other technologies the average life expectancy of a CF patient is now more than 37 years, according to the Cystic Fibrosis Foundation.
Farrell, a driving force behind newborn screening in the United States and Ireland, became interested in CF while working as a neonatologist and pediatric pulmonologist.
"It goes back to about 1978, I was working at both a neonatal intensive care unit and a CF center in Madison and I observed how frequently the children referred to my clinic had delayed diagnosis," said Farrell. "I became convinced that it was impossible to diagnosis CF at an early age without a newborn screening test."
Farrell learned about the immunoreactive trypsinogen (IRT) test in the early 1980s and launched a research program to discover the benefits of such a test. The IRT tests the blood for a particular enzyme produced by the pancreas. A small drop of blood, usually taken from the foot of a baby, is all that is required. If the baby tests positive, then the child is tested for the mutated gene and will likely be given a sweat test.
"If you wait until there are signs and symptoms of the disease, it may be too late," said Farrell. "Many (children with CF) have malnutrition and irreversible lung disease, but through early detection these can be prevented."
Symptoms of CF normally begin within two months of birth. CF newborn screening allows parents and doctors to catch the disease within a month of birth before real damage has occurred.
"Early detection allows us to prevent malnutrition and provide genetic counseling for parents," Farrell said.
CF newborn screening in Ireland and the U.S. is moving along. The U.S. will have CF newborn screening in every state by the end of 2009.
The plans in Ireland have been well-received by doctors and government officials and should be in place during 2009. A meeting of the CF newborn-screening steering committee was held June 18 in Dublin and Farrell was there. Many appreciate his efforts, both in Ireland and in the United States.
"We would not be screening for CF in all states without Dr. Farrell's leadership,'' said Dr. Preston Campbell, executive vice president for medical affairs at the Cystic Fibrosis Foundation. "The same is true for Ireland, where Dr. Farrell is not only moving CF newborn screening forward, but ensuring that it is done in the best possible way."
Date Published: 06/23/2009