The tangled helix of gene patenting

The tangled helix of gene patenting

Myriad Genetics and their patents for the human genes BRCA1 and BRCA2 have garnered a lot of press coverage recently. The American Civil Liberties Union fiercely opposed the patents, via a campaign they called “the fight to take back our genes”. Closer to home, Cancer Voices Australia called the patents “offensive and counter-​​intuitive”. Such strong rhetoric shows the potential for misinformation around gene patents. With the Australian High Court currently sitting on the issue, there’s no time like now to explore exactly what all the fuss is about.

What is a patent?

Let’s start with the basics. A patent is a legal structure that allows the patent holder to profit from use of the patented object or method. Patents can be sold and bought and passed on, but in order to exist at all, the object or method has to meet three criteria: it must be novel, innovative, and able to be commercialised.

Specific patent laws differ between countries, and often the wording for patents filed in multiple countries also differs. The common thread is that patents provide exclusive right to commercialise and exploit whatever has been patented.

In order to obtain a patent, you must disclose all information about whatever you’re patenting, providing fuel for future innovation and research. On the other hand, if you don’t or can’t patent something, in order to retain benefits you then have to keep it a trade secret.

Can you patent a human gene?

Logic would suggest that genes themselves are neither novel nor innovative, which makes the concept of gene patents a bit bizarre. The inability to patent humans is an incredibly important piece of legislation, and while that unfortunately throws some of the terrific tension in Orphan Black under the bus, it does stand firm with ideas like the abolition of slavery. Even if a gene is patented, no company is ever going to own a gene within your cells, or any product of that gene.

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Gene patenting: a slippery slope towards dystopia? Creative Commons licensed photo by Ruth Hartnup.

Gene patents can take a range of forms, but the most relevant in this case are those concerned with isolated genomic DNA and complementary DNA (cDNA). cDNA is an artificially created sequence that represents the protein-​​coding parts of a gene.

It is often claimed that gene patents drive up the price of genetic testing, but this isn’t supported by the data. The major difference between patented and non-​​patented genes is the number of laboratories that offer tests, which can be avoided by effective use of licensing. Patents on the CFTR gene, a gene in which mutations cause cystic fibrosis, have been licensed non-​​exclusively, allowing more laboratories to offer the test at an affordable rate.

Which patents are Myriad Genetics defending?

BRCA1 and BRCA2 are human genes in which certain mutations can signal a higher risk of breast and ovarian cancer in women. Myriad Genetics hold numerous patents on these two genes, including methods of testing for the mutations, investigations of genetic treatments, and the isolated gene sequences themselves. It is the latter patents that have stirred so much controversy.

The BRCA1 patents protected not only the entire gene, but also any sequence of 15 nucleotides or more that exist in the typical BRCA1 gene. This claim not only prevented diagnostic laboratories from sequencing the BRCA genes, but also providing results on whole genome sequencing. By enforcing their patents, Myriad potentially limited research, prevented independent confirmation of results, and stopped anyone from improving Myriad’s test.

Once again, this isn’t necessarily borne out by the data. Myriad has always supported research on patented genes, as do other companies with patents on genes. The rate of publications about BRCA1, a good measure of the amount of scientific research being performed, did not alter after granting of the patent, either in the USA or Australia.

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Myriad’s patents don’t seem to have limited cancer research in any way. Creative Commons licensed photo by Colin Charles.

Why were Myriad’s patents rejected in the US?

Historically, researchers have broadly ignored patents. However, in the United States, diagnostics laboratories began to receive notice that they were infringing on Myriad’s patents. A group of diagnosticians challenged several of these patents, but only one type of patent ‒ for the genomic and cDNA of BRCA1 and BRCA2 ‒ was discussed at the Supreme Court level.

The discussion in the US has largely centred on whether the act of isolating genes of interest is sufficient for the resultant product to not be “a product of nature”. The Supreme Court held that Myriad’s patent claims did not focus entirely on the chemical nature of genes but rather the information within that sequence. That information wasn’t substantially different to what was found in nature, and so isolated genomic DNA was not eligible for patenting. Complementary DNA, not being found in nature, remained patent-​​eligible.

What are the differences between Australia and the US?

While in the US it was these specific patents being challenged, the ongoing Australian court case (Yvonne D’Arcy v Myriad Genetics) hinges on whether an isolated human gene can be patented at all. The Myriad patent in Australia expires in August this year, so the outcome only matters in the precedent it sets.

The Australian courts didn’t follow the US ruling for two main reasons: firstly, Australia has no “laws of nature” rulings in its patent legislation, and secondly, the patents filed in Australia and the USA are incredibly different. The Australian claims are longer and more exact, and use a greater amount of chemical language than the American claims.

The initial judge took the line that if you just wrote out the sequence of BRCA1 or BRCA2, you wouldn’t be infringing on the patent, and so the claim couldn’t be about information. The difference in language between the two patents supports this idea, as well.

The opposition to this ruling centres on the idea that humans, and by extension human genes, are not things we should patent. The Federal Court of Australia held that the isolation of BRCA1 and BRCA2 was novel, innovative, and economically useful, and so upheld the patents. Currently the case is before the High Court, with an expected ruling later this year.

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The medical world awaits the judgement of our High Court. Creative Commons licensed photo by John O’Neill.

There has been a lot of discussion about the morality of patenting human genes. But opponents tend to miss the point that a “human gene” isn’t necessarily something that exists, anyway. Many genes can be identical to those found in other animals, so hinging a patent for a sequence of nucleotides on the supposed species of origin seems questionable at best.

Interestingly, a 2010 bill proposed making ineligible for patenting any biological materials “which are identical or substantially identical to such materials as they exist in nature”. This was rejected because, while there is indeed a need for patent reform, simply blocking out a chunk of patentable material wasn’t the way to do it. The key issue for many scientists is the ability to do research on genes that are patented. And in Australia, that is protected under patent law provided you’re not commercialising said research.

To be honest, it doesn’t look good for D’Arcy; the patent in the US was much less clear than the Australian patent, the principled objection to gene patents has already been considered and rejected by the Australian Government, and the comprehensive public healthcare system means that limited access to testing is unlikely. Add to that the fact that the patent runs out in August and, well…

It looks unlikely that this is the point at which gene patents in Australia will change forever. But that’s not necessarily a bad thing.

[Header image: Creative Commons licensed Flickr photo from thierry ehrmann.]