A landmark ruling in Sydney on February 15 gave the biotechnology industry an unprecedented right to make huge profits from genetic testing.
The case involved the breast cancer genes BRCA 1 and BRCA 2 and the right of US biotechnology company Myriad Genetics to have exclusive licence to a patent over their use in research.
Federal Court Justice John Nicholas had ruled that a private company can continue to hold a patent over an isolated gene, in this case, the BRCA gene. The BRCA gene is responsible for repairing or removing defective DNA cells.
This means that women who have a family history of breast cancer and are thought to carry mutations in either BRCA gene will have to pay between $300 and $3000 for a genetic test.
Such tests can save lives. Breast cancer can strike women with the familial mutation at a much younger age. If testing shows a woman is carrying the mutation, she can be monitored each year for early appearance of the disease and possibly undergo a mastectomy.
The decision, the first in Australia to rule over the patenting of genetic material, is a disaster for women and anyone else who carries a familial gene mutation that can develop into a cancer.
It also has worldwide implications. It sets a precedent for private ownership over genetic material and commercial ownership of genetic testing, especially genetic mutations that are known to cause any disease or illness.
It also ignores the hundreds of researchers all over the world that carried out investigations over two decades on this gene to develop the data on how it works. Thousands of breast cancer patients donated blood and tumour samples freely to contribute to the research.
Most of this research was funded by governments at universities and public research institutions. Therefore, genetic testing should be available to all people free of charge.
I researched this gene to see if there was a link with mutations that cause colon cancer. Governments spent billions of dollars funding the Human Genome Project that developed the human chromosome research on which genetic testing depends.
Myriad Genetics and its Australian licensee, Genetic Technologies Limited, have done little to add to this mountain of data except the ability to market it.
Isolated genetic material is not an invention, but naturally occurring DNA in the chromosome of every cell of every human being.
In 2008, Genetic Technologies in Australia threatened to prevent all other laboratories testing for BRCA1 mutations to diagnose the likelihood of breast cancer.
Its lawyers threatened Australian pathology and cancer centres with legal action. It withdrew after a public outcry. In the US, a district court ruled that the same patent was invalid in 2010 but the decision was overturned on appeal in 2011.
The patent is now enforced throughout the US. However, the American Council for Civil Liberties has petitioned the US Supreme Court to review the decision, which is due to take place in June.
The patent right has been forcefully defended by Myriad Genetics in Australia.
It’s a ringing condemnation of the government that the case had to be fought by advocacy group Cancer Voices and Brisbane woman Yvonne D’Arcy and not the federal government.
D’Arcy, a breast cancer survivor, was in tears as she left the court, saying she was bitterly disappointed over the defeat.
“We were doing this for future generations and I am so disappointed,” she told Fairfax Media on February 15.
“If you’re really sick and it’s a genetic form of cancer, then every female down the line should be able to get the testing done at a price they can afford and if it’s patented it won’t be.”
Patient advocacy group Cancer Voices said in court that the BRCA genes were not an “invention”, but a discovery.
In another unfair decision, Nicholas ordered costs against Cancer Voices Australia.
Breast cancer is the most common cause of cancer in women. Only 1% of cases will occur in men. In 2010, breast cancer was responsible for about 2800 deaths in Australian women.
About 5-10% of breast cancer cases are caused by an inherited mutation. Women with the BRCA1 or BRCA2 mutated gene have a 60% chance of getting breast cancer and 55% chance of getting ovarian cancer in a BRCA1 mutation. Ovarian cancer is hard to detect until its final stages, when the cancer has already spread.
However, there are hundreds of mutations in the BRCA genes and the occurrence of particular mutations is often dependent on the nationality of the patient. Knowledge and data on these genes has been obtained only through patient generosity.
This court decision in Australia could have severe consequences for thousands of women who may no longer be able to afford the high cost of testing for familial mutations.