The Licitness and Lawfulness of Patenting Human DNA

di Simone RAMACCI

Introduction

It is customary, when a new discovery is made in a field which will affect a large amount of ethical subjects (be it animal or human) to discuss its ethical implications before a decision is made on how such a discovery will be used. Indeed even research itself is faced with ethical questions which can often result in a project being redesigned or halted altogether due to concerns with its morality. The field of bioethics is best described with the hegelian dialectics idea of sublimation (Aufhebung) (Saner, 2008) as a process in which two opposing views (usefulness and licitness) are reconciled into a via media which presents itself as both ethically acceptable and not impeding noetic advancements.

In this essay the licitness of patenting naturally occurring human DNA which has been found useful for biotechnology or medical science will be discussed, with a short analysis of a similar precedent, of the science behind the issue, and of the European legislation covering such patenting.

The ethical aspects of the issue will be studied drawing from different sources, including publications by leading experts in both sciences and humanities. Possible solutions to any ethical issue raised will be suggested.

An old precedent

When considering the ethical issues surrounding the patenting of naturally occurring DNA sequences, one might despair to find an older precedent which may to some extent provide useful historical insight on how an issue will evolve, and possibly resolve itself, after it has moved from the newspaper to the history book. This need not be the case for the topic at hand, as one historical incident easily comes to mind: the history of Henrietta Lacks.

The history of HeLa cells is indeed a modern day parable for what contemporary scientists are facing. Whilst many will be familiar with the history behind the famed cell line, it is appropriate to present it briefly in order to highlight the remarkable similarities with the matter at hand.

Henrietta Lacks was a woman who underwent a biopsy as part of the investigation of her cervical cancer. Her tissue samples, provided with consent for diagnostic purposes, were used without her knowledge for research. Ms Lacks' cells became the first immortal human cells to be discovered, and were subsequently sent to scientists worldwide. Whilst the researches who discovered HeLa cells did not obtain any economical gain from the discovery and distribution, those cells found themselves to be at the centre of a thriving biotechnology industry worth billions of US dollars, and were fundamental to the creation, amongst other things, of a polio vaccine. Ms Lacks was only posthumously acknowledge after decades, and her surviving relatives did not receive any shares in the industry this poor African-American woman unknowingly helped creating in 1951 (Skloot, 2010).

As mentioned above, and as it is self evident from the brief summary of the Lacks case, there is plenty to learn from this chapter in biotechnology history. Like Ms Lacks, the people whose genetics materials is to be patented are usually suffering from different diseases (such as cancer in the case which was brought to the US Supreme Court (Abbot, 2012)), and although a shift in current ethical understanding now requires an informed consent to be provided by the donor, no regulations exists to assure that profit is shared with those who contributed to the discovery with their biological samples.

Furthermore, unlike Ms Lacks, current ethical standards would result in a further loss for any sample donors in that their names would no longer be kept or published due to privacy concerns.

The science behind the issue

The applications that make naturally occurring human DNA from diseased subjects such a valuable commodities reside mostly in the area of preventive medicine, and in particular testing.

Examples of these application include the now expired Australian Patent 686,004 (Shattuck-Eidens et al., 1995) which was the object of the US Supreme Court ruling, or the older identification of a rapid pre-natal diagnostic tool for sickle cell anaemia (Saiki et al., 1985). The scientific basics of such a diagnostics tool are summarised underneath, based on the methods described in Shattuck-Eidens et al. (1995).

Firstly a gene pertaining to the disease of interest (e.g. BRCA1) is to be identified, this can be done through different methods such as genetic mapping using data from relatives who suffer from the disease. Subsequently the gene can be isolated and cloned to perform expression analysis comparing diseased and healthy, in this example the comparison was between breast tissue and mammalian cancer tissue. The resulting cDNA can then be tested to insure it is indeed a useful disease indicator by comparing it with the transcriptome of healthy and diseased individuals from outside the family of the original sample donors; a true indicator will be present at high levels in unrelated diseased individuals, and at low or insignificant levels in healthy ones. Once the gene has been identified in as diagnostically relevant, techniques using DNA or RNA can be used to identify any mismatch between the sample and the known wild-type gene allele. Alternatively probes for known mutations associated with the disease can be used.

The patenting of a naturally occurring human DNA might refer specifically to the identified disease-associated DNA, or might include cDNAs derived from such a gene. Indeed the US Supreme Court ruling made a similar distinction (Abbot, 2012).

Legal Framework in the EU

As mentioned above, the legal aspects of such a practice as patenting naturally occurring DNA are regulated by the SCOTUS ruling in the United States, which prevents the patenting of disease-associated DNA but leaves room for patenting cDNA derived from such a gene.

As part of this study into the licitness of the practice, the European equivalent of the US regulations will now be explored, before the ethical aspects are discussed in detail.

The European Union legislates biotechnology through a document titled Directive 98/44/EC of the European Parliament and of the Council of 6 July 1998 on the legal protection of biotechnological inventions (European Parliament and European Council, 1998) (the Directive from now on).

The Directive recognises the economical and epistemic advantages of biotechnological advancements and the necessity thereof, especially in the field of genetic engineering (Preamble (1) and (2)), whilst also acknowledging the different legislation being enacted by member states and how that might impair any development in the field (Preamble (5)).

For the matter at hand, one need not look any further than articles 5 and 6 of the Directive. For clarity both will be provided in full.

Article 5 (European Parliament and European Council, 1998) reads:

“1. The human body, at the various stages of its formation and development, and the simple discovery of one of its elements, including the sequence or partial sequence of a gene, cannot constitute patentable inventions.

2. An element isolated from the human body or otherwise produced by means of a technical process, including the sequence or partial sequence of a gene, may constitute a patentable invention, even if the structure of that element is identical to that of a natural element.

3. The industrial application of a sequence or a partial sequence of a gene must be disclosed in the patent application.”

From this it appears that the decisions of the European Parliament and Council are similar to their American counterparts. Whilst human genes or other elements of human organisms cannot be patented per se, the law does allow for some flexibility, in permitting to patent human genes in a context similar to the techniques developed by Shattuck-Eidens et al. (1995). Indeed as the Justices of the American court recognised the differences between patenting a gene and patenting applications based on the discovery of such a thing (Abbot, 2012), so did the European legislators allow for technical processes to be considered as technological advancements which can be protected by patent law.

Having asserted this freedom, the European legislator however proceeds to limit it in some cases, as seen in Article 6 (European Parliament and European Council, 1998):

“1. Inventions shall be considered unpatentable where their commercial exploitation would be contrary to ordre public or morality; however, exploitation shall not be deemed to be so contrary merely because it is prohibited by law or regulation.

2. On the basis of paragraph 1, the following, in particular, shall be considered unpatentable:

(a) processes for cloning human beings;

(b) processes for modifying the germ line genetic identity of human beings;

(c) uses of human embryos for industrial or commercial purposes;

(d) processes for modifying the genetic identity of animals which are likely to cause them suffering without any substantial medical benefit to man or animal, and also animals resulting from such processes.”

As for the matter at hand, Article 6(1) suggests that a case-to-case basis might need to be applied, as no common definition is given of what would be contrary to morality. Indeed if a clear understanding of the moral stance of naturally occurring human DNA existed on paper, there would be no need of analysis such as this on the topic.

Patenting: Advancing or Reducing Innovation?

Leaving behind the legal framework and moving into the field of ethics, the first question to be asked regarding any patent is cui prodest? (whom will it benefit?). Specifically: does patenting provide an incentive to innovation, or does it make it harder for further developments to emerge? More to the point, do patents have a place in sciences at all?

As the quite partial World Intellectual Property Organisation explains (WIPO et al., 2007), the idea behind patents and copyright is simple: by allowing the inventor(s) or author(s) to profit from their creation or discovery, patent laws allow them to reinvest the harvest of their creativity into new ideas, as they need not worry about funds as much as they would have were there no gains to be had from being first in a creation or discovery.

Whilst the principle behind such an idea might be considered worthy of appreciation, the risk that such a tool be misused is real and can have dire consequences. For example, if a patent is issued to a physical person, should it not expire once such a person is deceased? Simply being an inventor's heir will not confer one inventor's wits. If that be the case, what to do then with patents granted to juridical entities, such as corporations or academia?

As with many other ethical questions there is no dichotomy of answers, but rather a very complex maze of overlapping issues.

It is for this reason that Heller and Eisenberg (1998) describe the shift from public domain to patented science which started in the United States of the 1980s as an effort to hasten the transition from episteme to techne, that is accelerate the monetisation of knowledge in a demanding capitalist environment. They argue that while such a move has, as expected, increased the private investment into science, it has indeed turned into a “tragedy of the anticommons” by forcing any innovation built upon a patented discovery to be dependant not on technical feasibility but rather economical considerations. Gone are (mostly) the days in which a public domain discovery was built upon to produce many more! Indeed they bemourn the transition from an evidently socialist environment to an utterly capitalist one. As with most instances of privatisation of common resources, they note, the costs of business-based science are not only economical but also, and more importantly, social.

It can thus be said that they anticipate of a decade the topics found in Abbot (2012), who does not hesitate to consider patenting in this field an “invitation to inhumanity”.

It should also be noted that whilst patents might hinder new discoveries, their most likely victims will be those who could have benefited from the discovery, but might not be in a condition to afford paying for the price which has been arbitrarily set by the patent holder.

For the matter at hand this category is most likely to include people who are suffering from any ailment, people who would benefit greatly from an early diagnosis. In most countries this will also include the health service as a whole, as testing for risk factors or specific medical conditions could reduce the overall cost of treating an individual. As an example being able to asses what dosage of Warfarin would be most appropriate for a patient based on their genotype would reduce the risk of adverse reaction (Dean, 2012), and thus save the health service the higher costs of dealing with complications.

Conclusion: Towards a More Ethical Approach

The issues that have been highlighted in the previous paragraphs are all relevant to answer the question of whether patenting of naturally occurring human DNA is ethically viable or not. It will now be attempted to reach a verdict by analysing the individual issues through a process of sublimation, so that the outcome of each may be taken into account in giving an answer.

1. Recognition of the donor's contribution

The donors providing DNA or tissue samples are crucial in determining the outcome of any research in the subject matter. However due to the usually high number required and to ethical concerns regarding anonymity, their importance is usually overlooked. To reconcile these two antithetic propositions, it is necessary to give the donors their due whilst also respecting their privacy. It is this author's opinion that the best way to do so would be to provide a fair compensation to the donors, should their contributions be used to developed a commercial product. This need not be monetary.

2. Patents limiting and aiding research

Patents provide an economic incentive to invest in biotechnological research. However making the results guarded trade secrets prevent the proliferation of new technologies based on them. This cannot be assessed within a traditional business model, as there is an obvious difference between other fields and research. For the capitalist Weltanschauung to be sustainable within a framework of noetic growth, a hybrid patent system needs to be designed, one that can allow for the advantages of patenting to coexist with the necessity of free innovation. This can be done by, for example, limiting the scope of the patent to for-profit derivative works, or by limiting the duration thereof.

3. Effects on patient and health care

Again, patents are an economic incentive. However they also allow their holders to decide the price to the end user, which may cause harm to human life either directly (to the person affected) or indirectly (to the healthcare system). As any unnecessary damage to a moral subject is morally questionable, a balance needs to be found between the greater good (i.e. further investment into research) and the effects on the people directly involved. This is not possible with the current system, as it depends only on the benevolence of the patent holder whether a technology will be affordable or overpriced. Again the only foreseeable solution is a limitation to the patent itself, if the capitalist attribute is to be maintained.

From this analysis of the major issues highlighted, and from a review of the current juridical framework, it appears that whilst currently legal in some cases, the patenting of naturally occurring human DNA is at the very least morally ambiguous, if not plainly illicit.

In this author's opinion there are therefore two possible solutions.

Limited Capitalism

The first solution is to limit the capitalist nature of biotechnological research, preferably on a legislative level. As mentioned before this can be achieved by reducing the scope of patents in order to protect derivative works as much as the ones they are based on. Some of the possible approaches to this include: sub-licensing a patent so that any derivative work will provide a source of revenue to the patent holders; limiting the duration of a patent to a short time period; or limiting the nature of the derivative work which can be conducted freely (i.e. commercial versus non commercial applications). In this scenario the best way to ethically respond to the donor's contribution would be some sort of compensation, preferably connected to the net profit.

Open Source and Public

The second option is to revert to what Heller and Eisenberg (1998)

call a “socialist” model, in which the main source of funding is once again the community, be it the state as it has been traditionally, or any other group of humans, as the development of crowd funding is already benefiting some biological research (for example the “Swab and Send” project by UCL and Roberts (2015)).

A community based funding would once more mean that discoveries are to be made available in public domain, and since there would be no profit to be made, there would be no moral obligation to compensate financially the donors, as their contribution would be self-rewarding in being pivotal to scientific development, and a symbolic recognition thereof would suffice.

References