Early testing for cystic fibrosis is better: study

The early detection of cystic fibrosis means treatment can start earlier and lead to better health overall, confirms a new Canadian study. Newborns are screened for this chronic disease in many European countries and all of North America except in the province of Quebec.

Cystic fibrosis (CF) is a genetic disease that causes thick and sticky mucus that affect digestion and the lungs. It affects one in 3,600 Canadians. About 4,000 people have it. A disproportionate 1,300 live in the province of Quebec.

CF shortens life expectancy

Although life expectancy for Canadians with CF is the best in the world at 52 years old, the average age of death or need for a lung transplant is the early 30s.

Screening of newborns is done by a blood test which involves collecting a second drop of blood from the already-standard heel prick test. The test has been administered in the province of Ontario for six years. So information was collected comparing the health of children with CF who had the early test, and those who didn’t get tested as newborns.

Early testing yielded several positives

“We found that children who were diagnosed through newborn screening had better growth–better heights and weights. They had fewer hospitalizations and, if they were hospitalized, it was for a shorter amount of time,” says Dr. Larry Lands director of the CF clinic at the Montreal Children’s hospital of the McGill University Health Centre.

His study also found that a lung infection which typically plagues CF patiens occurred in roughly in one in three of the children who had been screened, while in the patients who were diagnosed clinically, it was sixty per cent.

New drugs work best early

“But what’s really exciting,” says Lands, “is that in the last few years there’s the first generation of medications that can correct the fundamental defect in cystic fibrosis and, to benefit the most from that, you need early intervention.” He adds that recent evidence shows that children may look well, but may be suffering lung damage very early in their lives. Early treatment could mitigate that effect.

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All medical directors in charge of CF clinics in Quebec are urging the provincial government to make the screening of newborns routine so that those with CF can get early intervention to improve their quality of lie.

The study was led by a team from the Research Institute of the McGill University Health Centre and Cystic Fibrosis Canada, a charitable group committed to finding a cure.