Inherited gene mutations are an important risk factor for some cancers

Every year there are approximately 20,000 new diagnoses of breast cancer. The inherited genetic abnormalities carried in BRCA1 and 2 genes have been shown to be a factor in 5 to 10% of breast cancers – that is as many as 2,000 new cases in Canada this year. Women who carry one of these two genes are much more likely than other women to develop breast cancer and they are likely to develop the breast cancer at a younger age. These mutations also carry an increased probability of developing ovarian cancer. Many women in families with a strong history of breast and/or ovarian cancer and in which one of the genes has been found, want to understand the nature of their risk so that they can make informed choices about risk reduction strategies appropriate for them.

How Myriad acquired a monopoly on BRCA1 and 2 genes

Between October 2000 and April 2001, Myriad Genetics was awarded a series of patents by the Canadian Patent Office that gave the company extensive control over BRCA1 and 2 genes and a specific test that it has developed to identify their presence (BRACAnalysis).

The patents awarded Myriad a monopoly for 20 years from the filing date of the patent application. Although it has been suggested that Myriad’s patents also provide exclusive right to any information relating to or derived from these genes, as well as any methods developed to diagnose and treat hereditary breast and ovarian cancer, experts do not believe the courts will uphold these “rights”.

The American College of Medical Genetics has declared its concern that such monopolies limit the accessibility of competitively priced genetic testing services, hinder the development of quality assurance programs and limit the number of knowledgeable individuals to assist in patient care. In addition, monopolization of a gene may impede the scope and pace of research that might beneficially impact clinical application.

Impact of Myriad’s patents on Canadians

Several Canadian provinces offer genetic testing services under their health insurance programs using a variety of technologies (other than Myriad’s BRACAnalysis), all of which are believed to be effective. The implications of genetic testing are complex. A positive test may lead to difficult decisions about prevention options (for example, prophylactic mastectomy), and to social and ethical complications (for example, family members who would prefer not to know that they are at risk, learning that they are at risk and the risk of discrimination from insurers and employers). It is, therefore, generally accepted that such testing needs to be accompanied by expert counseling services. This ensures that women and their families understand all the implications of a positive test, both for themselves and for their relatives, and can make the choice to take the test with full knowledge. Expert counseling is a feature of provincial gene testing programs.

The existing Canadian gene testing programs use a variety of tests other than Myriad’s BRACAnalysis and are satisfied that the tests that they use are accurate. BRACAnalysis by Myriad is available in Canada through a licensing agreement with MDS Laboratories, but there are several problems associated with this arrangement:

Because of its approach, this test costs more than other tests currently used in Canada.
The samples all go to Myriad’s laboratory in Utah, where Myriad is attempting to build the only genetic data bank in the world for breast and ovarian cancer.
Not everyone agrees that the Myriad test is significantly more effective than the other technologies already in use in Canada.

In July 2001 Myriad issued a cease and desist notice in Canada instructing provincial governments to stop using any other tests to detect the BRCA1 and 2 genes other than BRACAnalysis. The response of provinces to Myriad’s order has varied. Some provinces use the Myriad test. At least one province has suspended its breast cancer gene testing program and instead sends samples to another province. The provinces continuing their service using tests other than BRACAnalysis risk facing legal action by Myriad. If Myriad is able to establish its claim that all gene testing must be conducted using its patented method, that all testing must be done in Utah, and at the cost it has established, provinces may decide not to offer this service under their health insurance programs. In this case, unless they could afford to pay for the test themselves, many will not be able to have the test at all.

Current legal issues regarding Myriad’s patents

The test Myriad has patented to detect BRCA1 or BRCA2 abnormalities is considered by some to be the “gold standard’. However, many feel that Myriad has overstated the advantages of its technology. For example, the Institut Curie in France claims that the technology used by Myriad fails to detect 10-20% of all expected mutations. In its press release the Institut Curie writes, “In order to get the most reliable results, geneticists cannot simply go for results derived from direct sequencing; they need to be able to carry out additional research using more comprehensive technologies, such as combined DNA technology. Through its monopoly position Myriad, which only uses direct sequencing technology for initial searches of family mutations, would seriously jeopardize the quality of test results as 10–20% of all mutations would thus go undetected.” On the basis that some of Myriad’s claims were overly broad, the Institut Curie, the Assistance Publique-Hopitaux de Paris and the Institut Gustave-Roussy filed an opposition notice with the European Patent Office. Following a public hearing on May 17 and 18, 2004, the European Patent Office revoked the patents Myriad held on BRACAnalysis. In November 2008, the European Patent Office restored the Myriad patents, but in a limited form. The patents only cover testing for certain BRCA mutations, and do not cover the BRCA genes themselves.

On May 12, 2009 the American Civil Liberties Union, along with several scientific associations, patient groups and individuals, filed a lawsuit against the US Patent and Trademark Office and Myriad Genetics claiming that the patents on BRCA1 and BRCA2 "stifle research that could lead to cures and limit women's options regarding their medical care". The Canadian Cancer Society will continue to monitor this case to assess any impact it might have in Canada.

The probable impact on research

Myriad claims that its patents give it the right to store all new information about BRCA1 and 2 in its own laboratories. Thus, Myriad is attempting to build up the only genetic data bank for breast and ovarian cancer in the world. Institut Curie states that this “in turn would grant [Myriad] unchallenged control over the main research materials concerning genes coding for breast and ovarian cancer susceptibility, thereby allowing it to make further discoveries and ultimately to file further patent applications as a result of such discoveries.” Others suggest that it will potentially lead to a loss of expertise and information among other researchers.

Proponents of the patenting of genes argue that researchers and corporations deserve to be rewarded for their investment of time, labour and capital in genetic research. They also argue that, once a patent has been filed, research is forced more rapidly into new areas and that secrecy is reduced as all researchers have access to the discovery. However, unlike the situation when patents are not involved, this access often comes at high costs related to license fees and royalties thus creating potential barriers to further important research and potentially severely limiting the timely development of new knowledge and new therapies.

Canadian researchers have an international reputation as leaders in genetics research and several have made important contributions to the discovery of the BRCA1 and 2 genes. Their access to the developing information in this area must be protected.

Last modified on: 16 June 2009

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