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Major breakthroughs have propelled genetic testing into one of the most promising areas of cancer research, but Ontario lacks adequate oversight and quality-control systems to prevent misdiagnosis and ensure patients have access to potentially life-saving treatments, according to a new report.

In order to prevent the kind of medical testing scandals that have emerged in Newfoundland, New Brunswick and elsewhere in Canada in recent years, the provincial government must make a significant investment to ensure laboratories are performing these highly sophisticated genetic tests accurately, urges the report released yesterday by Cancer Care Ontario.

"Quality-assurance programs have not kept pace with rapid advancements in genetics and molecular testing," said Terrence Sullivan, president and CEO of Cancer Care Ontario. "We need nothing less than a paradigm shift in the way we look at testing for these procedures."

Dr. Sullivan said Ontario is lagging far behind other provinces in terms of bringing new genetic tests into health-care centres and having a system to evaluate and approve the use of new tests on patients.

The report recommends the creation of a provincial oversight body, a standardized approval process for new genetic tests to be conducted in Ontario, strong quality-assurance measures and a major injection of funds.

Genetic testing is part of molecular oncology, a rapidly advancing field of medicine that holds out great promise because it allows doctors to predict a person's risk for cancer, as well as diagnose the disease and develop targeted, individualized treatments.

For example, its application has dramatically altered treatment for patients with chronic myelogenous leukemia: Tests can now identify the genetic mutation responsible for the disease, allowing patients to have chemotherapy using a drug that kills cancer cells by targeting that particular mutation.

There are two types of genetic testing related to cancer: cytogenetics, which involves the study of chromosomes and how structure changes or abnormalities can lead to disease; and molecular genetics, which involves the analysis of DNA and RNA for sequence changes. The number of genetic cancer tests performed in Ontario jumped more than 50 per cent from 2003 to 2007.

But the breakthroughs have created enormous challenges in determining which of the sophisticated and costly tests should be implemented in Ontario, and how to ensure they will be performed safely.

Compounding the problem is the fact that genetic discoveries are constantly being made, dramatically enhancing knowledge about the progression of certain diseases and how they can be treated.

Under the current system, there are nine provincially recognized molecular genetics labs and 11 cytogenetics labs as well as other, non-recognized centres conducting genetic tests.

But there is growing concern over the fact Ontario doesn't have a standardized system for evaluating and approving new genetic tests. A wide array of new tests is emerging in this rapidly expanding field, and a provincial body must be established to assess which ones would provide greatest benefit to patients, the report says.

"We definitely need to be better in this area," said Suzanne Kamel-Reid, head of laboratory genetics and director of molecular diagnostics at the University Health Network. She is also chair of the molecular oncology task force, which wrote the report.

The report also urges Ontario to develop a system to ensure that laboratories conducting genetic tests are properly accredited and meet rigorous quality-control standards.

"We can't afford to have errors," Dr. Sullivan said.

Although Ontario has a province-wide quality-control system for medical laboratories, the quality-assurance measures haven't kept pace with the developments in the field of genetic testing, according to the report.

"We need a stronger base of evidence on which to evaluate and introduce these tests and we need to be able to fund them in a way that supports patients across Ontario and everybody needs to have the same information," Dr. Sullivan said.

Ontario spends about $32-million a year on genetic laboratory services. The report doesn't specify how much more the province would need to establish the kind of standardization, oversight and quality-assurance measures it describes, but it would likely take a major injection of cash to do all Cancer Care Ontario said is necessary.

Ontario's Health Ministry it will take some time before a decision is made about policy or funding changes to molecular oncology services.

"We're reviewing those recommendations and seeing if we can develop an appropriate response," said ministry spokesman Andrew Morrison.

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Advances in genetic testing

Significant advances in genetic testing have dramatically improved the ability to recognize risk factors for cancer, diagnose the disease and develop personalized, targeted therapies. Some examples of major developments:

Chronic myeloid leukemia: A test can identify the genetic mutation responsible for the disease, allowing treatment that specifically targets the mutation and kills cancer cells.

Metastatic colorectal cancer: Molecular genetic testing has revealed that a certain antibody used to treat the disease doesn't work in patients who have a mutation on the K-RAS gene. Ontario has approved funding for the antibody on the condition that patients first undergo a genetic test to see if they have the mutation. However, the province doesn't fund the genetic testing, which has left some people paying out-of-pocket.

Breast and ovarian cancer: Tests for mutations in a woman's BRCA1 and BRCA2 genes can tell researchers if she is at an elevated risk for breast or ovarian cancer.

Carly Weeks