Angelina Jolie's recent double mastectomy was obviously a very radical decision. It is unusual for a healthy person to opt for pre-emptive surgery to avert the probability, however high it may be, of getting cancer. The tests Jolie relied on are also at the heart of a legal battle, which could affect US biotech patenting norms. Since the US is the global R&D leader, and other nations tend to fall in line with US practice, the outcome will have a far-reaching impact on research into stem cells, vaccines, antibiotics, insulin, enzymes and so on.
Jolie carries a mutation in the BRCA1 gene, which puts her at high risk of developing breast cancer. She relied on a gene-screening test by Myriad Genetics, a biotechnology company based in Utah, US. Myriad Genetics holds nine patents for the related BRCA1 and BRCA2 genes, and it is the only American company allowed to test for those two genes.
In 2009, a case was filed challenging Myriad Genetics patents, by a not-for-profit scientific body, the Association for Molecular Pathology (AMP), along with some 20 other plaintiffs including the American Civil Liberties Union (ACLU). The case has reached the US Supreme Court, which has heard arguments and is expected to give its ruling in June.
The issues are complex. In the simplest terms, should patents for specific human genes be allowed? The US Patent and Trademark Office (USPTO) says genetic material "can be the basis for a patent" if a particular gene, or molecule, is "isolated from its natural state and processed through purifying steps that separate the gene from other molecules naturally associated with it".
However, the USPTO guidelines may violate a basic premise: one cannot patent an abstract idea or a natural law. For example, Bayes' theorem, which is used to calculate the probability of diseases developing in cases like Jolies, cannot be patented. Nor, as one US Justice said, could a company patent common substances such as salt, sugar and flour, although it could patent a recipe with those ingredients.
This debate should have occurred 30 years ago, in the early 1980s. That was when the first bio-genetic patents were granted. Companies like Genentech received patents for insulin and human growth hormones. Weill Cornell Medical College (Cornell University) estimates that over 40 per cent of the human genome has already been patented. Over 100,000 existing biotech patents could be affected by the US Supreme Court's decision, one way or other.
A gene patent is applied for by a company (or a university lab), which isolates and identifies the fragment of DNA (deoxyribonucleic acid), which makes up the specific gene. The gene can then be synthesised by the use of messenger RNA (ribonucleic acid). This isolated synthetic gene is known as complementary DNA (cDNA), as opposed to genetic DNA (gDNA), which is the naturally occurring version.
The argument is that cDNA is a distinct, synthetic substance. Patent applications are always for both cDNA and gDNA. If only cDNA was patent-worthy, researchers could work around by using gDNA to isolate and develop cDNA, via a different set of processes. If both patents are granted, the holder has the exclusive right to research that gene. (It cannot demand licence fees from people who possess that gene naturally -- a misgiving thats often voiced when this subject is discussed!)
There have been multitudes of such patents and they are vastly profitable. Genentech's insulin patents delivered over $2 billion in revenues before expiring in 2005; the company owns over 10,000 patents in related areas. The self-testing pioneer, 23andMe, which offers a DNA-mapping kit for $99, also has the exclusive right to a test for Parkinsons disease.
Bio-patents hold for 20 years. The usual complicated pros and cons of intellectual property rights apply. On the one hand, there is incentive for investing in research. On the other hand, a patent holder may charge usurious monopolistic fees, and further research into the gene may be impeded.
Myriad Genetics' patents are due to expire in 2015. The company claims it spent more than $500 million in R&D. It charges $4,000 for the BRCA tests. An entire human genome sequencing for over 23,000 genes can now be done for about $1,000. Researchers at John Hopkins and Yale have developed free software, which can be used to test for the two specific BRCA genes.
The University of California, San Francisco, has helped found an open-access genetic database on the premise that gene isolation is not much different conceptually from cutting a leaf off a tree and patenting the leaf. The US Department of Justice has also declared that it does not support the patenting of naturally occurring genes.
It's possible that despite this, the US Supreme Court will rule in favour of Myriad Genetics and current patenting practices will continue. Or it may restrict patents only to cDNA. Or it may rule in favour of the AMP, ACLU, et al. The last two decisions would cause a tectonic shift in bio-patenting.
The healthcare implications are enormous, as are the implications for basic research. It is worth pointing out that several key medical innovations were deliberately not patented and that helped in their mass adoption. For example, Penicillin wasn't patented (though a method of mass production was later on). When Jonas Salk was asked why he refused to patent the polio vaccine, he responded, "One cant patent the sun."