Position Statement
Subject:
Patenting of Human Genes
Approval Date: 25 July 2001, Revised June 2006; Revised July 2008, August 2008,
August 2012, November 2013
Review Date:
March 2016
Review By:
Genetics AC
Number:
3/2001
The Royal College of Pathologists of Australasia recognises the importance of intellectual
property as a means of advancing social and economic progress in Australian society.
Laboratories which provide medical testing are continually refreshed and improved by the
introduction of patented processes. However, the College considers that human genetic
sequences identified in natural populations to be naturally occurring substances. As such,
they should be deemed to be non-patentable. In particular, Any intellectual property rights
should not restrict potential access to human genes for diagnostic purposes.
The granting of patents on human gene sequences is problematic and may have far reaching
consequences in the provision of health care. The College is of the view that such patents
would limit development, improvement and eventual use of genetic tests based on that
knowledge. The College notes that a gene can be viewed as both the chemical substrate of
genetic information and the information itself. The College’s concern regarding gene patents
applies to both perspectives.
The fundamental purpose of a patent is two-fold:
• To disseminate knowledge
• To restrict its utilisation for a finite time, thereby providing a commercial advantage
for the patent holder.
Restricting the utilisation of genetic information by means of patents is likely to result in
outcomes which compromise the optimum delivery of medical testing. Such restrictions may
include:
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reduced patient access to testing,
increased costs of testing,
dictation of standards of care for testing by patent holders,
reduction in peer review in test performance,
creation of conflicts of interest e.g. if patents covering both a medication and a gene
determining drug response are held by the one party
restriction of further research relating to diagnostic testing utilising the genetic sequence.
In addition, the patenting of genetic sequences may -lead to specific adverse consequences,
particularly in relation to medically complex tests. These consequences are likely to include:
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disruption of the clinician-laboratory interface which is necessary for appropriate
interpretation and utilisation of these complex tests.
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difficulties in establishing an open and effective regime of external quality assurance.
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reduced training opportunities for laboratory scientists, geneticists, pathologists and
physicians.
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the development of testing strategies which are dictated by commercial rather than
medical considerations. For example, it may be commercially preferable to provide a
limited repertoire of high volume tests rather than offer more comprehensive assays
which can also detect less common mutations. The gene patent may prevent another
laboratory from providing a more comprehensive analysis of the same gene. This would
impair the standard of care.
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limited evaluation of the clinical significance of genetic variants. The identification of
mutations and assessment of their clinical significance usually requires interpretation of
clinical data and test results from large numbers of patients. The patent holder is unlikely
to have access to this type and volume of data.
The genome sequences for many organisms, including human beings, are now freely
available. Efforts to commercialize this information should be focused on developing
products and applications rather than restricting use of the underlying genetic information.
Any intellectual property rights associated with human genes should be limited to the method
or process by which the genetic information is analysed, or to novel inventions arising from
this genetic information. The College is not opposed to the patenting of pharmaceutical
agents derived from naturally occurring genes, but is opposed to the patenting of such genes
themselves.
The patenting of genetic sequences has far-reaching implications because of the large
number of human and microbial genes and their myriad interactions in human health and
disease. It is essential that appropriate public policy regarding gene patents be developed
and implemented before restrictions on medical genetic testing through patent enforcement
become widespread.