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Quebec announces newborn screening for Cystic Fibrosis

Dr. Larry Lands, Director of Respiratory Medicine at the Montreal Children’s Hospital, is one of many people who welcomed the news that Quebec would be introducing newborn screening for cystic fibrosis (CF) on September 17. “Quebec is the last jurisdiction in North America to start newborn screening for CF,” says Dr. Lands. “It’s an important milestone and represents work done by many people for more than a decade.”

In 2016, the Journal of Cystic Fibrosis published a study led by Dr. Denise Mak of Cystic Fibrosis (CF) Canada and co-authored by Dr. Lands, which looked at data from the Canadian CF Registry on children in Alberta, Ontario and Quebec. The study analyzed factors such as growth, number of hospitalizations, and rates of infection from two bacteria often associated with CF. Children screened at birth who were then diagnosed with CF showed better outcomes across these measures than children who were diagnosed later without the benefit of newborn screening. “Despite access to top-notch therapy, the Quebec patients did not do as well on these measures of growth and development,” says Dr. Lands. “We concluded that newborn screening would lead to better long-term health outcomes.”

Identifying a key enzyme

All newborns in Quebec have a small blood test to check for certain diseases, and screening for CF will now be added to the testing. The CF test looks at the baby’s level of immune reactive trypsinogen (IRT), an enzyme produced by the pancreas. “If IRT is high, then the baby will be recommended for genetic testing,” says Dr. Lands. The genetic testing then determines if the child has the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Making new therapies available to more patients

Dr. Lands points out that it’s an exciting time in the management of cystic fibrosis because there are new therapies that correct the fundamental defect in the CFTR gene. Pharmaceutical companies which are making the first generation of correctors have already begun to conduct studies in children under two years old. “Our team members have been early adapters for these new correctors, and we’ve taken the approach of letting our families know what’s available and enrolling them in research trials,” says Dr. Lands.

The McGill University Health Centre (MUHC) is part of a national clinical trials network started by CF Canada, and Dr. Lands is heading up the MUHC site for the network. “This initiative will allow more patients to be involved in new therapies, and we’ll have the opportunity to bring in patients from across eastern Quebec,” he says. “There are a variety of pediatric studies going on now, and we’ll soon be starting a Phase I trial in adult CF patients.”

Source: https://www.thechildren.com/news-and-events/latest-news/quebec-announces-newborn-screening-cystic-fibrosis

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