Babies get cystic fibrosis test

Toronto Star – Babies get cystic fibrosis test: Province funds $1.5M newborn screening plan, ensuring early diagnosis, treatment of fatal illness
April 08, 2008
Megan Ogilvie, Health Reporter

Babies born in Ontario will now be screened for cystic fibrosis, the most common and fatal genetic disease of children and young adults in the country.

The test, rolled out this week under the province’s newborn screening program, will help catch the disease within a baby’s first month of life and will ensure patients get vital early treatment.

Experts call the test a major step forward in newborn care since diagnosing and treating the disease before symptoms emerge can improve a patient’s quality of life – and their life expectancy.

“We know early diagnosis in cystic fibrosis is essential to avoid long-term damage for lungs and to help patients develop into healthy individuals,” said Dr. Felix Ratjen, chief of respiratory medicine and head of the cystic fibrosis centre at The Hospital for Sick Children.

Right now, only about 60 per cent of cystic fibrosis cases are caught within a baby’s first year, he said.

Cystic fibrosis is an inherited disease that affects about 1 in every 3,600 babies born in Ontario. Cystic fibrosis patients have a defective gene that causes them to produce excess amounts of mucous that can clog the lungs and other organs.

Patients often have breathing problems and can develop life-threatening lung infections. Mucous can also block ducts leading to the pancreas, preventing food and nutrients from being digested properly. There is no cure for the disease, but life expectancy is steadily increasing and patients can now live into their mid- to late-30s.

Early treatment can prevent patients from getting lung infections and irreversible lung damage, said Ratjen. And babies with cystic fibrosis who do not get proper nutritional treatments and supplements can suffer growth and cognitive impairment, he said.

“This is a life-limiting disease, but the prognosis is improving all the time,” he said.

“The earlier we can intervene and the earlier we start treatment, the better the results will be.”

The province pledged to provide a cystic fibrosis screening test in November 2006, and will now spend $1.5 million annually to test some 135,000 babies born in Ontario each year. It was the last on a list of announcements from the Ministry of Health in 2005 and 2006 to boost Ontario’s newborn screening tests from two to the current 29 tests.

While the province’s newborn screening program checks for 27 rare genetic diseases, the test for cystic fibrosis is the first to use a patient’s DNA, said Dr. Pranesh Chakraborty, a metabolic geneticist and the laboratory director of the Ontario Newborn Screening Program at the Children’s Hospital of Eastern Ontario. This, he added, raises some concerns around patient privacy and other legal issues about how to handle blood samples used for newborn screening.

A blood sample is obtained by pricking a baby’s heel between one and seven days after birth and the dot of dried blood collected on a card is sent to the lab.

The Ministry of Health has convened an official advisory committee on newborn screening to examine the issues, Chakraborty said.

Ratjen said advocates for the cystic fibrosis screening test made sure benefits of screening programs outweighed the risks by looking at data from other jurisdictions. The test, for example, is routine in Australia, some European nations and in about 40 U.S. states, he said.

“Other data shows that it works and that it is a major step forward to improving the overall outcome of patients,” he said.

Alberta started testing newborns for cystic fibrosis in 2007, and the test is currently under review in British Columbia, said Cathleen Morrison, CEO of the Canadian Cystic Fibrosis Foundation.

She said the foundation is pressing for the test to be offered in all provinces to prevent misdiagnoses and to give babies with cystic fibrosis a better start in life.

“For many years, parents who have had difficulty getting a diagnosis have felt strongly that their grief could have been avoided (with this test),” she said.

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