Non-invasive prenatal genetic testing based on maternal blood sampling is replacing older invasive forms of testing – a paradigm shift in prenatal medicine. The patent rights associated with these methods have been litigated in several jurisdictions, most notably to date the US, UK and Australia. This decision of Justice Beach in Sequenom, Inc. v Ariosa Diagnostics, Inc.  FCA 1011, stands in clear contrast to the US Court of Appeals decision in Ariosa Diagnostics v Sequenom 788 F.3d 1371 (2015) (the Ariosa US decision), and the Supreme Court of the United States which subsequently denied Sequenom’s petition for a writ of certiorari.
The Patent Family
The patent family in question, with patents in the US, Europe and Australia, are in broadly similar terms and arose from research carried out by Professor Dennis Lo and colleagues at Oxford University. Professor Lo’s discovery demonstrated that cell-free foetal DNA (cffDNA) could be detected in the plasma and serum of pregnant women. The patents arising from this discovery are, generally speaking, to methods of detecting this cell-free foetal DNA, using standard techniques, for prenatal diagnosis of genetic anomalies and sex determination.
Sequenom began offering the non-invasive prenatal test in the US in 2011, with a number of other companies following suit, including Ariosa Diagnostics which provided its own “Harmony” test. Illumina, the other major player in the field, produced “Verifi” in the US, and the two companies settled their patent dispute by cross-licensing their patents in 2014.
Background to the Australian Litigation
Sequenom is the patentee of Australian Patent No 727919 entitled “Non-invasive prenatal diagnosis” (the Patent). The claims relate to a method of detecting the presence of nucleic acid of foetal origin in a maternal serum or plasma sample. Sequenom sought relief for infringement in relation to the Harmony test.
The respondents, Ariosa (together with two Australian pathology companies licensed by Ariosa to promote and supply the Harmony test) cross-claimed seeking revocation on several grounds. This article deals exclusively with his Honour’s findings in relation to patent subject-matter eligibility.
Genetic Information v Practical Application
Patent eligibility in Australia requires that the relevant subject matter be a “manner of manufacture”. The leading authorities on interpreting this requirement, High Court decisions in Research and Development Corporation v Commissioner of Patents (1959) 102 CLR 252 (NRDC) and D’Arcy v Myriad Genetics Inc (2015) 258 CLR 334 (Myriad) make clear that there are two essential factors necessary to the characterisation of an invention as a “manner of manufacture”:
(a) whether the invention as claimed is for a product made, or a process producing an outcome as a result of human action (that is, an artificially created state of affairs); and
(b) whether the invention as claimed has economic utility.
Ariosa conceded that where a new scientific principle is discovered, its practical application might be patented, even if that application is straight-forward once the new principle is known. However, Ariosa argued, in the instant case, the discovery of the location (in maternal serum) of a known product (foetal DNA), was not the discovery of a new principle, and that the Patent merely claims the use of the discovery for the purposes to which it is inherently adapted. In particular Ariosa contended that there was no claim in the Patent to any new method of detecting cffDNA once it was discovered to be present in the plasma or serum of a pregnant woman.
Second, Ariosa submitted that none of the claims involved the creation of an artificially created state of affairs. The outcome of each claim was merely genetic information about the DNA of the foetus, which is a naturally occurring phenomenon.
Beach J disagreed, finding that the Patent did not contain any claims to cffDNA as a product per se or as genetic information as it existed in nature (as was the case in Myriad), but rather to a method by which the discovery of the existence of cffDNA can be put to practical use. In this way the subject matter of the relevant claims can be seen to fall within the principles of NRDC and affirmed in Myriad, whilst not falling within the impermissible sequence claims rejected in Myriad.
His Honour articulated his reasons in the following terms:
“The invention is undoubtedly an artificial non-invasive detection method involving artificial DNA amplification methods and synthetic probes deriving from the presence of cfDNA in the maternal circulation from both the mother and developing foetus”.
His Honour concluded that such a “process of detection and discrimination” could only be characterised as artificial and could not be naturally occurring information of a non-patentable character. While not required to do so, his Honour also considered the “other factors” outlined in Myriad and came to the same conclusions on subject matter eligibility.
This decision is not surprising given Justice Beach’s decision in Meat & Livestock Australia Limited v Cargill, Inc  FCA 51 (MLA) discussed here.
The IP Landscape on Patentability
The position in the US
A series of recent decisions in the US have significantly narrowed the patent eligibility for inventions involving diagnostic methods, in particular Mayo Collaborative Services v Prometheus Laboratories Inc 566 US 66 (2012) and Alice Corp. v. CLS Bank International 573 US 208 (2014). The uncertainty and ambiguity created by these decisions for patentees has led the United States Congress to release draft legislation to address patentable subject matter. These matters and the Ariosa US decision are discussed here in further detail.
The position in Europe
The European Courts have taken a more permissive approach to subject matter eligibility, instead restrictively applying criteria for novelty, inventive step, and insufficient disclosure.
Under the European “Biotechnology Directive” (Directive 98/44/EC, Article 5 and Recitals 21-22) where a DNA sequence is isolated from the human body by means of a technical process, the sequence per se becomes eligible for patent protection, even where it is identical to that which exists in nature.
In keeping with this approach, Justice Henry Carr in the corresponding UK proceedings, Illumina, Inc v Premaitha Health Plc  EWHC 2930 (Pat), concluded:
I do not accept that, properly construed, claim 1 is a claim to a discovery as such. The claims are not directed to information about the natural world, but rather to a practical process, namely a “detection method” which uses information about the natural world. Claim 1 is directed to the detection of foetal DNA in a sample of plasma or serum. Such samples do not exist in the natural world and must be artificially created. The claimed method of detection is also an artificial process which does not exist in the natural world. The claim is to a practical process of implementing a discovery, for practical applications. The actual contribution, as a matter of substance, does not fall solely within the excluded subject matter and is technical in nature.
The decision in this case, following on from his Honour’s decision in MLA, provides certainty that claims defining practical applications of genetic technologies that are the result of human action are patent eligible subject matter under Australian law. We note that Ariosa has until 18 July 2019 to file an appeal to the Full Court.
It is also evident that the patent eligibility of gene-based applications varies significantly across jurisdictions, and in particular the requirements in the US remain in a state of confusion and flux. It would be highly desirable to have consistency across jurisdictions in this regard, to provide patentees with greater commercial certainty and predictability for their gene and diagnostic based patent portfolios.
Authored by Dr Roshan Evans