Genetic testing programs could overwhelm health care systems, says new report

The good news from human genome research is that tests to determine people's genetic susceptibility to many common and deadly diseases are already, or soon will be, available. The bad news, according to a University of Toronto report in the May 12 edition of the British Medical Journal, is that most health care systems risk being overwhelmed unless they start preparing for the complex and costly demands of genetic screening programs.

"We have to start looking ahead and take a comprehensive approach to the issue of genetic susceptibility testing. We can't focus on the test alone, we can't focus on the disease alone, we have to look at all aspects of the process in deciding whether to offer genetic testing programs to the public," says Professor Vivek Goel of the University of Toronto's Faculty of Medicine, lead author of the report. "There has been considerable debate about the complicated ethical, legal and social challenges that must be addressed. But there has been far less discussion about who should pay for the tests and how decisions to cover them under public or private insurance plans should be made."

The report presents guidelines for policy makers to use in assessing whether or not to implement publicly supported genetic screening programs. Based on the current World Health Organization framework that has been used to evaluate disease screening programs around the world since 1968, the revised guidelines take into account the different requirements of genetic testing compared to older, simpler screening programs such as blood pressure and cholesterol tests.

While traditional screening programs only involve the health of the person taking the test, genetic screening affects whole families. "You're not just testing individuals you're testing their whole family, and some family members may not want to know these results," says Goel, chair of U of T's Department of Health Administration. "Is your uncle in Greece going to release his medical history to your doctor in Toronto, for example, or can you even find the X-rays from your great aunt?" As a result, he says, confidentiality and accessibility of family health information are important considerations.

And just because a genetic test is available for a certain disease does not mean it should be implemented on a population wide basis, says Goel. There must be full knowledge of the level of risk conferred by a genetic mutation and a precise definition of the target group that is susceptible. "If only one in 1,000 people is going to have a mutation, and the risk of disease from that mutation is only 10 per cent, then you're not going to go out and screen millions of people. But if it's 10 per cent of the population that has a mutation and the risk of disease from that mutation in 90 per cent, then you may be more inclined to go out and screen on a population level."

Even when it is clear that a genetic test is valuable for a specific disease and population, follow-up procedures must be in place before the test is offered to the public, according to the revised guidelines. "After a test has confirmed a genetic mutation in someone, there have to be counselling, surveillance and treatment programs available to help people cope with the results and ensure that they have the interventions that will allow them to avoid ever getting the disease," says Goel. The report also says there should be strong legal and ethical measures to protect people from the negative consequences of being labelled with various diseases after a positive genetic test.

"It may be considered premature to be discussing criteria for organized genetic screening programs now when we only have a handful of tests available," he says, "but it's our view that it is better to have a discussion about such criteria now-before the many tests currently being developed become widely adopted. While the potential benefits of these programs are huge, the risks are significant and indiscriminate use could overwhelm our health systems."

The report is the result of Crossroads 99, a symposium and conference attended by genetics researchers, public health specialists, mental health professionals, physicians, consumers, lawyers and ethicists. Held in November 1999, the symposium was funded by the Canadian Institutes of Health Research, the Social Sciences and Humanities Research Council, the National Cancer Institute of Canada, the United States National Cancer Institute, the Surgical Oncology Program at Cancer Care Ontario and the U of T Interdepartmental Division of Oncology.