The first gene patent was granted in 1982 for the sequence encoding insulin. Today ~ 20% of the human genome is patented. And the controversy is as alive as ever as we discuss in this month’s editorial.
Gene patents have supporters who see them as essential for the development of diagnostic and therapeutic products and detractors who see them as hindering research directly and indirectly.
We think that Myriad Genetics’ patents on BRCA 1 and 2, and how these patents have been upheld in court challenges in the US, illustrate how gene patents can elicit cases of preemptive obedience which is problematic for patients and researchers alike.
While it is not clear that Myriad’s patents on BRCA 1 and 2 are infringed by technology that does not rely on isolated cDNA, such as next generation sequencing (NGS), no company in the US seems to be willing to take that risk. AmbryGenetics, for example, a company offering an NGS-based test for mutations in 14 breast cancer related genes, specifically excludes BRCA 1 and 2.
For patients in the US with a family history of breast cancer this is bad news, since it leaves them with Myriad as the only provider for mutation testing in BRCA. And there is no way to obtain a second opinion, particularly for negative results.
Not so in the UK. There Myriad holds fewer and more restricted patents and NewGene, a company owned by the Newcastle Hospitals NHS Foundation Trust and Newcastle University, offers full sequencing of the BRCA1 and 2 coding regions and some introns. We are not saying that NewGene’s test is superior to Myriad’s, though it is certainly cheaper. But it shows that the latest technology can quite rapidly be translated into the clinic, if there are no legal hurdles.
To understand the impact of the many different mutations in the BRCA genes researchers need to have access to a large patient population. For this purpose the NIH founded the Breast Cancer Information core (BIC) mutation database to gather such patient data.
Myriad as the sole provider of BRCA mutation tests acquires large amounts of patient data and until about 2006 the company contributed variants to BIC. Then they decided to keep them proprietary. Researchers were not happy about losing access to such valuable information. In response Robert Nussbaum from UCSF started an initiative to gather mutations directly from physicians. He is asking them to black out a patients identity and forward the mutation report Myriad provides so it can be incorporated into BIC. This information, together with many international contributions, has led to over 14 000 variants in the database.
With personalized medicine on the rise and many people interested in having their genome sequenced restricting who can look at a particular gene makes little sense and the much coveted $1000 genome will hopefully not be rendered ineffective by patent laws.
As always we are keen to hear your views.
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“If I have seen further it is only by standing on the shoulders of giants.” This well known quote is sufficient, if honestly read, to argue against the idea that everything can be patented in a way to be “protected” from everyone else’s eye. In fact, the quote is a recursive statement, as every standing dwarf becomes the tip of the giant’s shoulders. As scientists, we should reject the idea that a patent can limit the knowledge instead of correctly aknowledge the autorship: even before being unacceptable, it is inconceivable. It is not a fortouitous thing that almost every journal requests the authors of the accepted manuscripts to make any material and reagents described in the papers freely available to the scientific community. Applying a similar idea of patent to a book would imply that none could read it and, maybe, get inspired.
Beside these considerations, which seem so obvious to me to be on the verge of becoming trivial, I think that defining the concept of property (from which patents and copyrights are derived) is a challenging mission that we should face in a different way. To accomplish this task we cannot use obsolete tools absolutely inadequate to legally define something like a gene and, even more difficult, its function. In a completely different field and with less heavy implications, the digital community is facing similar problems. Open Source and Open Access are completely new concepts with extraordinary impact on our lives and on our society, and they descend from the possibility to share everything with no need for reproduction. Formalization of these concepts lead to new legal forms of licences, from copyleft to creative commons. And beyond these formalized rules, the possibility to share makes difficult to define property and, as a consequence, to trace individual contribution. No doubt, it is an Open (and intriguing) Problem, requiring a great effort to be studied and brought to a good solution.
Do we think that life sciences “goods” can be blent in regular goods and managed with familiar and usual legal tools? I don’t think so. Furthermore, i believe that we are forced not only to strive toward finding new tools, but also to rethink and redefine our idea of property.
Renato Brandimarti, PhD
Dept. of Pharmacy and Biotechnology
University of Bologna