Decades of advances in sequencing technology have led to breakthroughs in not just the sensitivity of DNA tests, but also the speed and costs associated with them.

Previously constrained to the development of diagnostic tools enabling the screening of rare but severe medical conditions at birth, these advances have heralded the breakthrough of consumer DNA testing including $50 DNA test kits. The value of this sector alone is projected to reach nearly US$1 billion by 2023.[1]

For scientific researchers intent on accessing these markets, a major issue is the basis for establishing sustainable commercial spin-outs based on these genetic technologies. In particular, whether patents can  be granted at home as the stepping stone to raising initial investment, and then extended to protect these valuable inventions in the US where the market for DNA-based products is very attractive.

The situation in Australia

In Australia, the landmark Myriad case remains authority that isolated human genes, which relate to naturally occurring gene sequences including mutations such as those in BRCA1 linked to breast and ovarian cancers, are not patentable.[2] In Myriad the High Court considered to the ‘chilling effect’ on inventive activity if it were to allow protection gene sequences that occur naturally in nature to be patented. In obiter dicta, the Court said that the principles that apply to gene sequences extend to cDNA as well, an artificial construct made from mRNA which is complementary to the DNA sequence being probed in scientific laboratories.

It is notable however that the claims relating to the methods of diagnosis were not in dispute in the High Court. For the most part, for now at least, legal workarounds of this position are possible.

In the United States the landscape is more difficult 

In the United States, the standard test for determining patent eligibility is the two-step test formulated and refined through the landmark Mayo, Myriad and Alice cases.[3] Firstly, the test requires a determination of whether the claims are directed towards patent ineligible matter, such as laws of nature or natural phenomena.

If this question is answered in the affirmative, the second step is to ask whether the elements of the claim individually or in combination transform the subject matter of the claim into something which is patent eligible. Using this test, it was held in Ariosa v Sequenom[4] that a patent directed to diagnostic testing claimed a process that encompassed natural phenomena using routine and conventional laboratory assays. The reasoning in this case was that the assays did not add additional features that were new and useful, and hence the claims were not transformed into patent eligible matter.

This ruling recently raised its head in Roche Molecular Systems v Cepheid,[5] regarding US patent number 5,643,723. Cepheid alleged that Roche had infringed its patent directed towards a method of detecting Mycobacterium tuberculosis in humans. The substance of the invention was the identification of eleven key signature nucleotides. The Federal Circuit affirmed the findings in In re BRCA1, holding that the sequences were as they existed in nature.[6] Perhaps worryingly, the Federal Circuit’s analysis appears to be contrary to USPTO guidance which states that in assessing the patent eligibility of process claims, the inquiry should be directed towards the process itself rather than the products used within the process, something we have discussed previously.

In a concurring opinion, Judge O’Malley raised several important points regarding the direction of patent eligibility for gene patents. Her Honour distinguished In re BRCA1, noting that the case at hand involved unresolved questions of material fact with regard to whether the primers were mere artificial constructs, and had substantial differences to the sequences as they would exist in nature. Her Honour paid particular attention to the Myriad[7] Supreme Court case in which it was held that cDNA was patent eligible due to changes in chemical structure and the fact cDNA were made in the laboratory.

Refining the position in Australia - Stay tuned 

The recent Meat & Livestock Australia Limited v Cargill, Inc[8] decision brought welcome relief to Australian inventors of gene technologies. The patent in question involved the identification of genetic markers called single nucleotide polymorphisms (SNPs), which were correlated with favourable traits in livestock such as marbling and growth. Beach J. held that while SNPs exist in nature, the claims went beyond merely identifying the association with bovine traits and involved a practical application, hence constituting patent eligible matter. In particular, His Honour distinguished Myriad on the basis that the claims found ineligible in that case were those involving the gene sequences themselves rather than the method claims.

For now, Australia remains a patent friendly jurisdiction for patents directed to methods, particularly diagnostic methods involving genetic sequences. The parallel Australian case of Sequenom v Ariosa, (filed shortly after the US Supreme Court proceedings concluded) has been heard recently in the Federal Court of Australia and we wait with bated breath. Time will tell whether Judge O’Malley’s concurring opinion in Roche v Cepheid is shared and strikes changes here in Australia and across the Pacific.

With deep knowledge of the intricacies of patenting gene sequences, and years of actual experience as academic researchers, our team of Attorneys can help you through the minefield of obtaining a legal position which will support commercialisation of your research - feel free to contact us

[1] Global Consumer DNA (Genetic) Testing Market – Forecasts from 2018-2023, Knowledge Sourcing Intelligence LLP, March 2018

[2] D’Arcy v Myriad Genetics Inc [2015] HCA 35

[3] These are: Mayo v. Prometheus, 566 U.S. 66 (2012), Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank International, 573 U.S. 208 (2014).

[4] Ariosa Diagnostics, Inc. v. Sequenom, Inc., 788 F.3d 1371 (Fed. Cir. 2015).

[5] Roche Molecular Systems, Inc. v. Cepheid (Fed. Cir. 2018)

[6]  In re BRCA1- & BRCA2-Based Hereditary Cancer Test Patent Litig., 774 F.3d 755, 760 (Fed. Cir. 2014)

[7] Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013)

[8] Meat & Livestock Australia Limited v Cargill, Inc [2018] FCA 51

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