The BRCA1 gene is located on Chromosome 17
Breast cancer affects millions of people every year, and recent statistics from Cancer Research UK showed that the lifetime risk for women is now one in eight, with around 46,000 new cases in the UK every year.
Early diagnosis is one of the keys to winning the battle against this killer, so the fact people in the US pay between $3000 and $4000 (£2000 and £2500) to test for two of the most commonly faulty genes may not seem like a lot. This steep price is in part due to the fact the companies producing the tests have patents on these genes.
However, when you consider that genes are part of us, completely naturally occurring biological material, these prices may make you think again.
The first patent for a genetic sequence was granted in 1982. Since then, the number of applications has skyrocketed. Gene and DNA patenting have been the topic of much controversy and debate for many years, and now, ten years after the first decoding of the human genome, they are back in the limelight.
Late last year a ruling by the US Department of Justice revoked Myriad Genetics’ patent on the two genes in question – BRCA1 and BRCA2 (involved in suppressing tumours), saying it should be impossible for a patent to cover a naturally occurring gene.
Organisations such as the American Civil Liberties Union (ACLU) see gene patenting as “unreasonably restraining free speech and scientific research” and are thrilled with the decision, believing this signifies the start of a trend in rejecting gene patents.
However many disagree; saying patents are a well-established way of encouraging further research thus improving treatments, particularly in drug development.
Dr Amanda Warren-Jones, a senior lecturer in law at the University of Sheffield, who specializes in biomedical patents thinks the US may end up back-tracking: “It’s difficult to think the courts will wipe out the previous rulings; it would involve the complete reversal of the thousands upon thousands of gene patents that have already been granted.”
In fact, a study has found that 20 per cent of human genes have had patents granted on them in the US, and that some genes are patented as many as 20 times. This figure could be because the US Patent and Trademark Office (USPTO) haven’t conducted completely thorough checks, but it is more likely to do with what the patent actually covers. Dr Naomi Hawkins, a lecturer in law at the University of Exeter, said: “You can patent a lot of different aspects of the same gene – it might not be the whole gene itself, it could be specific mutations or regions.”
How is patenting a gene possible?
A patent should be unique, have an invention step and also an industrial application according to the criteria set out by patent offices. And yet the companies in question have gained rights to a naturally occurring sequence of DNA – opponents say this is equivalent to life, and goes against the legal precedent that says “products of nature” are not patentable (gold, for instance, is a basic element and cannot be patented).
To understand why many gene patents have been successful we need to delve a little deeper. Ever since the idea of patenting a proteins or ‘bodily components’ first came about, in 1903 for the isolation of adrenaline, there has been much debate about the terms of such licenses. Finally, it was decided that a patent could only be granted if there was a chemical or biological use for the gene; rather than just as a genetic tool, or a probe. They are licensed on the basis that once out of the body these genes or DNA sequences behave differently and can be used commercially.
Dr Warren-Jones alludes to the EU Directive on this subject and says that processing of the material puts it in a completely different context: “When in the body the gene can’t be used industrially, but when it’s isolated it becomes significantly different from its natural counterpart.”
A further argument against patenting, cited by ACLU, is that it is “simple enough for any graduate student in genetics or a related field” to isolate DNA. While this is perfectly accurate, when the first patent was issued there was no way of predicting these technologies would become commonplace, they may indeed have been patenting a one-off scientific discovery. Now a legal precedent has been set, and they cannot deny one company’s patent without revoking all the others that have been filed under the same conditions.
Gene patents can suppress research
Opponents believe patents block free use of scientific material and reduce the number of labs able to use the genes or gene sequences in question. In the case of Myriad Genetics this appears to be true. Although they say they will not bring any action against basic research, they have challenged commercial labs and forced them to stop testing for BRCA mutations. A recent article in the journal Genomics declared that research in the US only continues “with Myriad’s indulgence”.
Mildred Cho and her team interviewed 122 US research groups, and found that over half of them discontinued their research, and a quarter had completely stopped their testing, due to existing genetic patents.
Professor Sir John Sulston, Chair of the Institute for Science, Ethics and Innovation, isn’t surprised: “The fact of the matter is that many human genes have patent rights on them and this is going to get in the way of treatment unless you have a lot of money, and it’s going to get in the way of research.”
However there are stark differences on opposite sides of the Atlantic – in a survey of 77 Eurogentest laboratories (who carry out genetic testing in Europe) only four per cent felt their research had been brought to a stop because of gene patents. Before the end of 2003 only 750 of the 15,000 patents on genetic material were held by European labs, and few Eurogentest labs seemed to have a full understanding of their legal position. It is expected that this will change as more patents are applied for in Europe – we will have to wait and see if we experience the same furore in the UK as in the US.
While patents on the BRCA genes don’t apply in the UK, there are others in place that many research groups, including the NHS, just ignore, and therefore infringe. At first glance this seems like a foolhardy move, but experts say that with so many patents around, so many overlaps and so many small labs, it is impractical for big companies to spend their time checking up on and challenging such behaviour. The NHS, for example, is a huge client for many pharmaceutical companies. These are consequently unlikely to think about suing the NHS for fear of losing income and possibly coming under a tidal wave of bad public relations.
The financial stakes are rising
Is it possible to patent sequences of DNA?
A patent has a lifetime of 20 years, and with many new drugs taking up to half this time to reach the market, a patent effectively gives the group who make the initial discovery a head start, rather than a permanent monopoly. Although only Myriad Genetics can currently carry out these breast cancer screens in the US, they applied for the patent in 1994, and it has been indicated that the patent will expire on 5 January 2016. When the patent period does stop, generics will enter the market, which will drive down prices.
Some think that allowing the market to self-regulate is the best way of controlling medicines and their costs – a company will not want to out-price its customers. Taking a new drug to the market can cost over $1 billion (£600 million), with only one in 1000 actually making it. The successful drugs will have to absorb the cost of those that failed, and it is thought that without patent protection to allow one company to focus on the initial stages, the stakes would be too high for further drug development.
Patents don’t equal ‘ownership’
After all the legalese, there is one major sticking point – is this ethical? This is our DNA, the stuff that makes everyone the same and yet simultaneously makes us all unique. The British Medical Association commented that the misinterpretation of a patent can leave many feeling ill at ease - that it is tantamount to ownership and therefore the companies ‘own’ part of the human genome.
The breadth of opinions runs the whole gamut – from the belief that no-one should be able to patent what they class as the blueprints of life, our common ancestry; all the way to DNA being just a chain of atoms and molecules, of which we share 50 per cent with a banana.
Some researchers feel stifled by the patent laws; others feel that maintaining the system is the only way to keep up with the stiff global competition. It would not be difficult for a lab to up sticks and move to a country where they could apply for a patent. Jim Greenwood, head of the US Biotechnology Industry Organization said this decision could “undermine US global leadership and investment in the life sciences”, as well as “harm patients who are waiting for life-saving therapies and diagnostics yet to be developed”.
Myriad Genetics’ claims may seem unethical, un-policeable or even absurd to some (Thomas Kepler’s look at the nitty gritty details showed that the patents they hold effectively mean there are actually 14 infringing sequences in every human gene). To others, the patent laws are the best thing we have to encourage innovation, protect those who want to invest in new technology and ensure this important research doesn’t occur in secret.
With the ink just drying on the Department of Justice’s ruling, will we now see the number of gene patents decreasing, will the US revoke the 40,000 or so current patents on DNA sequences, or is this merely a blip on the road to the whole human genome becoming corporate property? Whichever way it turns out, we can be certain that this is an issue that will polarise debate for many years to come.
Images: under Creative Commons Licenses courtesy of the National Human Genome Research Institute
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