Justice John Nicholas on Friday upheld US company Myriad Genetics' patent over the so-called breast cancer gene, which is a mutation in a gene known as BRCA1.

The landmark decision could lead to fewer and more expensive tests for cancer and a whole host of deadly diseases, as well as preventing victims from getting a second opinion on their test results.

The ruling is the first in Australia to decide on whether isolated genes can be patented, and will set a precedent in favour of commercial control of genetic material.

The law firm Maurice Blackburn had joined with a Brisbane cancer survivor, Yvonne D'Arcy, to fight the patent.

They argued that it was a naturally occurring component of the human body that had been discovered, rather than an invention that could be patented.

But Justice Nicholas said it would be a “mistake” to assume that just because the gene mutation was a part of the human body, isolating it was not a form of “new manufacture”.

He said a previous High Court decision had given a very broad definition of what "new manufacture" meant, and that there was no legal basis to demand the product be substantially different from something that occurred in nature.

Ms D'Arcy was in tears as she left the federal court, and said she was very disappointed.

"We were doing this for future generations, and I'm just so disappointed,” she said.

The judge also ordered costs against the 66-year-old pensioner, who has survived breast cancer twice and ovarian cancer once, and faces further cancer tests next week.

She told Fairfax Media she was not worried about the costs, as she “doesn't own anything”, and she hoped to appeal the decision.

“I'm little, but I've got plenty of fight,” she said.

The chief executive of the Cancer Council, Ian Olver, said the decision showed the law must be changed to ban patents over human genetic material.

“Given that most of the new cancer treatments are going to be targeted at genes and their products this really has to be sorted out,” he said.

In Australia, Myriad Genetics has granted an exclusive licence to the patent to a company called Genetic Technologies Limited.

In 2008, Genetic Technologies attempted to enforce its patent rights over the gene, and threatened pathology and cancer centres with legal action.

After a public backlash it did not follow through with its threat, and it has not actively defended the case in Australia.

An intellectual property consultant, Luigi Palombi, said the decision was ridiculous.

“The fact that [DNA] has been extracted really doesn't change what it is, and to say that it is therefore an invention is ridiculous,” he said. “This judgment simply ignores the common sense approach.”

He said it was a failure of government that a law firm and a cancer survivor had been left to fight the patent.

“These parties have taken an absolutely enormous risk in this and they will not benefit from the result of the decision,” he said.

Rebecca Gilsenan, the principal lawyer at Maurice Blackburn, said the firm would review the judgment and decide whether or not to appeal.

“We are very disappointed with the outcome today,” she said.

In the US, where the case against the BRCA1 patent is also being fought, there have been several decisions and appeals. The US Supreme Court will again consider the case in April.

The director of research investment at the National Breast Cancer Foundation, Alison Butt, said the decision would restrict research into gene mutations and could increase the cost of testing.

Cancer advocate John Stubbs said the decision was “very very disappointing”. He said it would have far-reaching effects not just for cancer patients, but people with other genetic diseases.

A clinical geneticist who practices privately in Sydney and at Royal North Shore Hospital, Michael Field, said if Genetic Technologies began enforcing its patent in light of the decision, it would increase costs for the health system, and women who decided to have the test privately.

Genetic Technologies has not responded to a request for comment.