Publications / Intellectual Property

15 Feb 13
Patenting human genetic material - promoting or deterring innovation?

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Australian Federal Court ruling on patentability of breast cancer gene BRCA1

In a landmark Federal Court decision handed down on 15 February 2013, Justice Nicholas upheld the validity of US company Myriad Genetics, Inc’s (Myriad) patent on the isolated BRCA1 gene, associated mutations and utilisation of the sequence for diagnostic purposes.  The BRCA1 gene is commonly referred to as the ‘breast cancer gene’ and has been used as a diagnostic tool to determine an individual’s genetic predisposition to developing breast and ovarian cancers.  The BRCA1 gene is associated with approximately 45% of hereditary cases of breast cancer and at least 80% of hereditary cancers involving both breast and ovarian cancers.  

Background to application

The application was first filed in 2010 against Myriad by Cancer Voices Australia, an independent national organisation committed to improving the lives of those affected by cancer, and Yvonne D’Arcy, a Brisbane cancer patient.  ASX listed Genetic Technologies Limited (GTG) was also a respondent in this application as exclusive licensee of the patent in Australia.  The applicants argued that the patent related purely to the discovery of a naturally occurring genetic mutation, and could therefore not be classified as an ‘invention’ requiring the protection of a patent.  It was claimed that there was no significant or material difference between the genetic material in its isolated and natural states.

The Patent

The patent is titled “In vivo mutations and polymorphisms in the 17q-linked breast and ovarian cancer susceptibility gene.”  17q refers to the gene BRCA1, which is found on the long arm of chromosome 17.  The present invention has been described in the patent as relating to the following:

a.  methods and materials used to isolate and detect a human breast and ovarian cancer predisposition gene (BRCA1);
b.  mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer;
c.  therapy of human cancers which have a mutation in the BRCA1 gene;
d.  the screening of drugs for cancer therapy; and
e.  the screening of the BRCA1 gene for mutations, useful for diagnosing the predisposition to breast and ovarian cancer.

Patent status in the US

Similar proceedings were most recently heard in the US Court of Appeals for the Federal Circuit, where plaintiffs claimed that Myriad’s BRCA1 and BRCA2 genes consist of ineligible patent subject matter, and that associated method claims were also unpatentable.  Under US law, inventors cannot acquire a product patent enabling the holder to obtain exclusive rights to  ‘products of nature’.  Similarly, inventors cannot acquire a method patent for mere ‘abstract’ mental steps that are not ‘transformative’.

The principal issues for the Court were (i) whether an isolated gene (i.e. only a segment of a DNA molecule) is ‘markedly different’ from its naturally occurring counterparts such as to make it patent-eligible subject matter, and (ii) whether methods of testing by comparison and analysis of DNA sequences were valid.  

In August 2012, it was narrowly (2:1) held that Myriad’s composition (gene product) claims were valid. However, each judge wrote a separate opinion and the majority differed on the question of whether full-length genes should be patentable if the matter were considered ‘on a blank canvas’. The Court then invalidated all but one of Myriad’s method claims.  In light of this difficult decision, the US Supreme Court announced on 30 November 2012 that it would hear an appeal.

Australian Federal Court decision

In his judgment, Justice Nicholas relied heavily on section 18 Patents Act 1990 (Cth) and the High Court decision in National Research Development Corporation v Commissioner for Patents (1959) 102 CLR 252 (NRDC), in holding that “a composition of matter may constitute patentable subject matter if it consists of an artificial state of affairs, that has some discernible effect, and that is of utility in a field of economic endeavour.”

He discussed whether the physical properties of the genetic material changed as a result of being isolated, but found that even if they had not, the removal of the gene from its natural environment, which involved the separation of the gene from other cellular components, may still be considered an “artificial state of affairs.”

Nicholas J stated that the creation of an artificial state of affairs is a very broad concept in Australian law.  He further held that naturally occurring genes or gene sequences such as BRCA1 do not exist outside the cell absent human intervention, and the isolated gene does not in itself exist inside the cell.  Finally, Justice Nicholas found that isolating the BRCA1 gene in this way has necessarily required immense research and intellectual effort.  Justice Nicholas therefore held that Myriad’s patent constitutes an invention that is eligible for patent protection.  The application was therefore dismissed and costs were awarded against the applicants.

Interestingly, the Australian plaintiffs did not object to the patentability of Myriad’s diagnostic methods contained in the same patent – the point on which the US plaintiffs have had most success. Australian Patent Office practice is simply to allow such claims in reliance on the NRDC case. It will be interesting to see, subsequent to the US decision, whether these claims will be more vulnerable to attack in future.

Potential issues

Concerns have been raised about the implications of a precedent being created allowing for human genetic material and genetic sequences to qualify for patent protection.  Where a company (in this case GTG) is effectively given a monopoly in Australia (by way of the grant of an exclusive licence from Myriad) over BRCA1 testing, it has been suggested that this could potentially lead to higher prices being payable for these diagnostic genetic tests, which would therefore restrict patient access to these procedures.

In fact, this is what has occurred in the US and was the trigger for the US patent challenge. Yet when GTG tried to enforce its monopoly in Australia, public uproar persuaded the company to back down.

Importantly, it has also been queried whether patenting genes or genetic sequences would unduly deter future research in the area, whereby the development of new diagnostic and therapeutics technologies can only occur by using already patented genetic material.
Despite valid concerns being raised in relation to whether patenting human genetic material is legal and appropriate, at this stage no conclusive evidence has been put forward to suggest that it deters future scientific research in the area.

Nevertheless, while the potential adverse consequences of gene patenting have not clearly emerged in Australia, the stakes are high for both patient groups, genetic health service providers and researchers.  We will keep you updated on any further developments.

Focus covers legal and technical issues in a general way. It is not designed to express opinions on specific cases. Focus is intended for information purposes only and should not be regarded as legal advice. Further advice should be obtained before taking action on any issue dealt with in this publication

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