Newborn screening gets a booster in Ontario

Programs vary province-to-province. Ontario initiative fires calls for comprehensive nationwide plan

By Jennifer Laliberté

Doctors know that the one thing new parents want most is a healthy baby — 10 fingers, 10 toes, a good, strong heartbeat and the chance to live a long and fulfilling life. Though all parents will imagine the worst, their fears are usually unfounded. But for an unlucky minority of newborns, rare inherited conditions occur. If left undetected and untreated, some can beget serious problems like mental retardation, physical disability, or even premature death. The only way to diagnose a newborn with these diseases is to screen them.

The catch: not all provinces screen for the same number of diseases. Until recently Ontario offered the fewest. But on September 7, all that changed. The province announced plans to drastically expand its newborn screening program from two to 21 diseases. The decision was spurred by recommendations of a specially appointed advisory committee and has reignited the debate over the need for a comprehensive national newborn screening program.

POLICY HODGEPODGE
"I don't think that the physicians looking after kids with these diseases have been able to convince the government to implement these programs," says Dr WB Hanley, a pediatrician and the founder of the phenylketonuria (PKU) program — a congenital disease — at the Hospital for Sick Children in Toronto.

Dr Hanley investigated the status of newborn screening programs across the country in a paper published in the April issue of Paediatrics & Child Health. He concluded that Canada has a long way to go before our screening programs are up to par, and has called for the participation of the new Public Health Agency of Canada.

At it stands, every province and territory currently tests for congenital hypothyroidism (CH) and PKU but other than that it's a hodgepodge. Until now, CH and PKU were the alpha and omega of Ontario's screening program. The recent additions will bring the province into third place in terms of the number of conditions babies are routinely tested for, behind Saskatchewan, which tests for 29 conditions and Quebec, which tests for 28. To accommodate the expanded program, the province will invest in three tandem mass spectrometers, the latest technology when it comes to newborn screening, at an estimated cost of $2 million. Another $2 million annually will be needed to run the program; systems are expected to be operational by March.

Canada lags behind many international screening norms. In the US, individual states still differ on the amount and nature of the diseases they screen for but, generally speaking, tests are more numerous and cover a broader range of conditions. For example, New York has recently increased the number of conditions covered by screening to 44, while California tests for 75.

The American College of Medical Genetics (ACMG) recently released a report identifying 29 primary targets for newborn screening. The same report also offers physicians recommendations for followup and management of children affected by these conditions.

Here in Canada, no federal body has been charged with the mandate to offer recommendations or create guidelines for newborn screening. As a result, decisions are made on a province-by-province, and in some cases region-by-region, basis. To complicate matters further, not all experts agree on what conditions should be tested for. Even the Canadian Paediatric Society refuses to offer an official position on the issue.

SCREENING CRUSADE
That's where people like Ontarian Tammy Clark, founding member of the Save Babies Through Screening Foundation Canada, fit in. In 2002 she lost her nine-month-old daughter, Jenna, to a disease called medium chain acyl CoA dehydrogenase deficiency, or MCAD, an enzyme problem which makes it impossible to break down fats. Her daughter's condition could have been easily treated, if her doctors had known she had it. In fact, if Jenna had been born in Saskatchewan, she would probably still be alive today because MCAD is included in that province's screening program.

Ever since her daughter's untimely death, Ms Clark has been campaigning for change. "There needs to be some sort of initiative here in Canada to raise awareness of these rare disorders themselves and for comprehensive screening," she says. "Unfortunately, people haven't made the connection between the disorders and the screening."

Ms Clark is encouraged by Ontario's decision to expand their program, but she's also disappointed that several other diseases, mostly endocrine and blood-related disorders like sickle cell anemia, still haven't made the list. "I felt very badly for those families I do know whose child's disorder was excluded," she says. And she isn't the only one to feel the changes are too little, too late. In a scalding report issued on September 27, Ontario Ombudsman AndrÄ Marin laced into bureaucrats and politicians for taking the issue lightly. "[Newborn screening] is not just some impersonal, abstracted, bureaucratic question or an issue for another day. It is a matter about unnecessary illness, suffering and death of real children," he said

The debate over a comprehensive newborn screening program raises many issues: the need for screening systems to be current and uniform, ethical issues surrounding the collected blood samples, privacy and consent issues, financial considerations and the importance of public awareness. Ms Clark understands the complexity surrounding all this, but she maintains her belief that we need to do better. "This is not a crusade, this is about educating people", she says.