This document discusses the ethical issues surrounding patenting human genes and how it affects scientific research and medical practice. While companies argue patents fuel research, evidence shows patents can slow research by requiring licensing fees and risk of infringement penalties. Patents on genes linked to diseases have limited further research identifying new mutations and made diagnosis only available through the patent holder. Surveys found many researchers limited projects or discontinued research due to patent risks. Withdrawing gene patents, like the Supreme Court did for BRCA1/2, can benefit research, innovation, healthcare costs and patients.

1. Ethical Issues Surrounding Patenting of Human Genes and the Development of
New Treatments
Word count: 2908
Objections to gene patents are not limited to simple technicalities or moral qualms about the
ethicality of having a monopoly on someone’s genetic code. There are also concerns about how the
patenting of sequences affects scientific research and the application of medical practice. Genetic
and pharmaceutical companies maintain the view point that the prospect of a monopoly fuels
research into new genes and their significance while researches and some patients claim scientific
and medical practice is slowed by having to pay expensive licencing fees and halting research in fear
of infringing on existing gene patents and paying expensive penalties.
What a Patent is
A patent is a monopoly granted by the state to the proprietor of an invention and functions to
exclude others from exploiting the invention. In the UK something is patentable if it meets certain
requirements (Patents Act 1977);
 the invention is new
 it involves an inventive step
 it is capable of industrial application
However, a patent will not be granted for
 a discovery, scientific theory or mathematical method;
 a literary, dramatic, musical or artistic work or any other aesthetic creation whatsoever;
 a scheme, rule or method for performing a mental act, playing a game or doing business, or
a program for a computer;
 the presentation of information
The US and EU have very similar specifications. At first glance it appears obvious that gene patents
would violate some of the above specifications and you would be forgiven for thinking that this was
confirmed by what the US Supreme Court stated in the case Diamond v Chakrabarty (1980), a legal
dispute regarding whether GMO's (genetically modified organisms) can be patented.
“The laws of nature, physical phenomena and abstract ideas have been held not patentable. Thus a
new mineral discovered in the earth or a new plant found in the wild is not patentable subject
matter. Likewise, Einstein could not patent his celebrated law that E=mc2
; nor Newton have
patented the law of gravity. Such discoveries are 'manifestations of... nature, free for all men and
reserved exclusively to none.' "
Can Genes Be Patented?
The court decided in favour of patenting GMO's. Many courts do uphold patents on purified
products of nature. In 1912 (Parke-Davis v H.K. Mulord) the court upheld a patent on adrenaline.
This is a natural product but it had been discovered and subsequently purified and as such, although
the same compound, was not found in nature in this state. A gene as found in a person is not
patentable however the 'inventive' step in creating it in the form of cDNA or recombinant vector

2. essentially allows the information in the gene to be (Doll, 1998). This means little in practice as when
a gene is discovered it is simple enough to make a cDNA copy of it and thus be patentable. Matthijis
(2006) argues the lack of inventive step associated with gene discovery. He argues in the case of the
BRCA1 (breast cancer 1) gene patents, how inventive can it be to find a gene associated with a
disease if said disease is already known to be at least partially heritable. One the requirements for an
invention to be new, is to be novel and non-obvious to someone skilled in the art. Others (Andrews,
2002) argues that genes do not meet this precedent as gene function can be accurately predicated
based on their homology to genes with known functions via in silico assays. Proponents of the
patents will often argue the Diamond v. Chakrabarty case and put forward that isolated genes fall
under man-made genetic engineering and should be classified as inventions and thus be patentable
So whether a gene can be technically patented is still up for debate but even if it meets all these
criteria there can still be exceptions depending on the industrial applications of the gene. In 2001 in
one of the most widely cited, controversial and popular gene patenting stories, Myriad Genetics was
granted patents on BRCA1/2 genes associated with breast cancer (Williams-Jones, 2002). The patent
on BRCA1 covered all methods of diagnosing breast cancer by comparisons of BRAC1 genes (Butler
and Goodman, 2001). Myriad Genetics quickly enforced the patents meaning that the diagnoses
could only be carried out at their laboratories and could charge however much they deemed fit. This
was the epitome of fear for those against gene patents. What will be the consequence or cancer
research and treatment in the future? What if they charge extortionate amounts? If they do and
prescribe gene therapy could this lead to not only a social but a genetic class in the future? These
moral and ethical questions aside, many argue its legality. Not in respect to if it fulfil patent
specifications, rather its exemption from exemption. This comes from a paragraph from the EPO
(European Patent Office) legislation (EPC 1973) which states
“Methods for treatment of the human or animal body by surgery or therapy and diagnostic methods
practised on the human or animal body shall not be regarded as inventions which are susceptible of
industrial application".
The purpose of this directive was to prevent practitioners from being prohibited from diagnosing
and treating illness. This would of course only be applicable to genes that have been causally linked
to a disease (Matthijis, 2006). Even if the patent holds there can still be ways research and diagnosis
can continue. For example, in the US, Rivers and Weldon proposed a law which would allow medical
doctors and non-commercial researches working with patented genes from being sued (Genome and
Diagnostic Research Accessibility Act of 2002) so as to allow new innovation and continued
diagnosis. The bill was not enacted. Another solution would be the issue of compulsory licenses
where by patent holder is forced to grant licenses at a fair price. Belgium and France already have
similar systems in place. Even the mere threat of enforcing this act seems to be effective at driving
license cost down. In South Africa in 1997, 40 pharmaceutical companies sued the government for
evoking the compulsory licensing of drugs to prevent AIDS. They dropped the case and lowered
prices when they realised the law could be legally enforced (Cooper et al, 2001; Simmons, 2001).
How Patents affect Research
Regardless of the technical and ethical concerns if the patents fuel competition to find genes of
importance and spur innovation, won't it be worth it? Arguably the most important question then is,
what difference do the patents actually make to research and treatment? Aside from Myraid
genetics, other companies have successfully patented influential genes such as Athena
Neurosciences Inc who have patented apoliprotein E (APOE) (Borger, 1999) which is linked to
Alzheimer's disease. The MIT (Massachusetts Institute of Technology), Harvard and the Whitehead
Institute for Biomedical Research were granted a patent for nuclear factor- B (NF-B). The broad
statement covers any method inhibiting expression of a gene whose transcription is regulated by NF-

3. B (Baltimore et al, 1986). This would in fact cover an unknown number of other genes apart from
NF-B and is reminiscent of Samuel Morse's attempt to patent any use of electromagnetic waves for
his invention of the telegraph (O'Reilly v Morse, 1853). Many mutations in a gene can cause the
same disease and the exclusivity in diagnostics does affect research and real people. If a company
restricts the ability of others to research their gene they lessen the odds other harmful mutations in
that gene will be identified. This has already been the case where the APOE patent did not apply
(Canada) and new mutations uncovered that could be used to help diagnosis people where
beforehand they would not (Merz and Silverman, 1999). Another concern is that of the difficulty of
navigating many patents and their many owners to ensure that the research the professional
conducts is legal (tragedy of the anti-commons). Caulfield et al (2006) addressed this concern and
reviewed what the evidence said. They found that in actuality the effects of the anti-commons were
much less than had been feared. Walsh et al (2003) interviewed a number of intellectual property
(IP) attorneys, scientists, and managers from pharmaceutical firms and biotech firms, university
researchers and technology transfer officers from universities and other IP attorneys and
government and trade association personnel. The found that although the interviewees thought that
the amount of patents had increased; nearly none thought any important research had been
impeded by them. That is not to say it hadn't caused trouble. One of the reasons projects were not
halted was because the interviewees adopted 'working solutions' such as licensing, inventing around
patents, going offshore, the development and use of public databases and research tools, court
challenges, and simply using the technology without a license (i.e. infringement). This survey didn't
report how many were actually affected by the patents stating only '... almost none of our
respondents reported worthwhile projects being stopped because of issues of access to IP rights to
research tools'. Also the pool surveyed would have been biased. IP attorneys and the managers from
pharmaceutical firms and biotech firms would surly been in favour of the patents because of their
profession. Nicol and Nielsen also found similar results (2003). However, they noted that the reason
for the low number of discontinued projects may be down to the fact that projects were stopped
before they started (i.e. they assessed only if projects were stopped and not prevented). This aspect
was not taken into consideration in the Walsh study. In contrast Heller and Eisenberg (1998) found
privatization of the biomedical research industry resulted in a build-up of patents upstream have
repressed innovations downstream. This happens in two ways; generation of many ‘concurrent
fragments of IP rights in future inventions and the piling of licenses on top of the future creations of
downstream innovators. These are also more likely to persist in the biomedical research industry
because of the expensive transition costs of negotiations, heterogeneous interests between patent
owners and cognitive bias of researches.
Effects on Diagnostics
Patents not specifically concerning genes can still affect gene discovery. For example, the USPTO
(Home page of the United States Patent and Trademark Office's) maintain that any new gene
discovered will not be subject to mutation testing or creation of a product based on the gene
without the permission of any patent holders on any EST's (expressed sequence tags; a short
sequence of mRNA derived from cDNA used to identify gene transcripts) created from the gene. This
means the discoverer may have to pay a fee or may be refused downright any permission (Doll,
1988). Thankfully this is not such a problem today thanks to extensive public databases such as that
on the NCBI (National Center for Biotechnology Information) database. When it comes to patents
concerning specifically diagnostic testing the story is different. A survey carried out by Rabino (2001)
found that out of 1229 scientists surveyed > 85 % said excessive patenting as problematic. Nearly 80
% do not think it appropriate to patent any human DNA with nearly two thirds of industry scientist in
agreement. A staggering 49 % said they had limited their research at some point because of the

4. possibility of infringement (far higher than the 'almost none' of the Walsh study). This study is more
likely to represent true figures compared to the Walsh and the Nicol and Nielsen study not only
because of the larger sample size but the scientist filled out anonymous questionnaires instead of
being interviewed. In a survey by Cho et al (2003), it was found that 79 of 122 respondents stated
they had been contacted about their laboratory’s potential infringement of a patent by performance
of genetic tests by a patent or license holder. Thirty of which said that they decided to discontinue
their research as a result. This is exemplified when in 1988 Progenitor enforced its patent on the
haemochromatosis gene and demanded $250000 from private institutes, $25000 from university
laboratories and $20 per diagnostic test. 36 out of 119 laboratories subsequently withdrew from
researching the gene. This limited higher quality/lower cost tests by restricting development (Merz
et al 2002). A similar situation involves GlaxoSmithKline (GSK). Drugs only work on a certain number
of people who take them. Genetic tests can assess if someone will respond to a particular drug and
with this in mind GSK patented a gene essential to determine responsiveness of its drug to treat
hemochromotosis (a different gene from Progenitor). Thus only GSK would be able to develop a test,
which they did not. Probably to secure a higher number of drug sales (Anand, 2001). An effective
way to trace the effect of the tragedy of the anti-commons is to record the number of citations
involving patented genes before and after the gene is patented. Using this method, a modest effect
was found with citations falling between 9-17% (Stern and Murray, 2004). This could be partially
explained by the unwillingness of researchers to state obvious infringement in print.
Regardless of the other differences patents make they will result in a higher cost of the end product.
If several patents exist each of which is needed to create an end product such as a therapy or drug,
then the end cost will of course be higher. These potentially lifesaving products will be passed onto
governments and consumers at a much higher cost. This 'patent thicket' effect is highlighted by
Shapiro (2001) who uses simple economic analysis to show this.
Final Thoughts
On the 13th June 2013, the Supreme Court withdrew Myriad Genetics monopoly on the BRCA1 and
BRCA 2 genes stating that " that naturally occurring human genes cannot be patented" (Ledford,
2013). From the research I conducted I can only conclude this to be a good thing and a step in the
right direction. There are some cases for patenting, for example the patent lawyer Doug Calhoun,
points out that the tests may not have been developed without funding from investors who thought
that they would hold the patent exclusively. However, I think such arguments are relatively weak.
The evidence indicates that patents will have a negative impact on research, innovation and
discovery and ultimately lead to a costlier product. If one company has a monopoly on a gene and
diagnostic test, then the test results cannot be verified by an independent party. This is not a
hypothetical situation and has already happened when in 2001 a women diagnosed with breast and
ovarian cancer received a diagnostic screen from Myriad Genetics for the BRCA1 gene to determine
the susceptibility of her daughter inheriting the conditions. No mutation was found. However, as a
mutation was extremely likely given the previous diagnosis, the case was passed to another
laboratory and a large, previously unknown mutation found (Gad et al, 2001). It is eventually the
patients that have to take the brunt of this and ill health effects are created where they could have
been treated or prevented. Khan (2011) Highlights the damage that could have been done in the
past if the HeLa cells had been patented by their discoverer, George Gey. The polio vaccine may not
have been created and our knowledge of cancer, AIDS and radiation would not have developed to
the extent that it has. Genes naturally found in organisms are not inventions, that is beyond doubt. I
think it is fair that inventions the manipulate molecules or genes in a non-natural way can be
patented. PCR (polymerase chain reaction) is a perfect example. However, genes should not be
patented. The evidence shows to do so limits research on the gene and any associated diseases and
results in a more expensive end product. Both of these stifle innovations and future discoveries and

5. are detrimental to healthcare. It is ultimately the public that suffers for this. Science is built on
sharing and journals were created for this. The faster and more widely results are shared, the faster
correct hypothesis are validated and false ones thrown out and the more rapidly humanity
progresses. Patents help to keep findings obscure. Methods, results and discoveries that remain in
secrecy do not contribute to science or anyone expect those that have the patent, and in my mind
can’t be considered science. It is for these reasons that I think gene patenting is ethically and morally
unjustified and go against the grain of progress. I am hopeful that there will be further changes to
patent law following the Supreme Court’s example; particularly close attention should be paid to the
patenting of non-human genes. This essay has dealt with human genes only, but it should be
remembered that many human genes share the same homology and are found across the animal
kingdom, especially amongst our closest relatives the chimpanzees (King and Wilson, 1975) whom
we share 96 % of our genome with (Varki and Altheide, 2005). If a company was to patent the
identical cytochrome C genes (King and Wilson, 1975) in humans would the same genes be patented
in chimpanzees. If so how far would this patent stretch across the tree of life? If not, could the
identical genes cause a surge in more ethically grey animal research on apes? It is not just patents on
human genes that have potential to affect human health. Patents on disease causing bacteria and
viruses make it in principle more difficult for cheap public health genetic diagnostics by restricting
research on the infectious agent (Andrews, 2002). I could not find any considerable literature non-
human gene patents but it has the potential to be just as significant.
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