Genetics and Patenting
Overview from the Department of Energy
Intellectual Property and Genomics
Patenting genetic discoveries has proven controversial over the past several years. There are now patents associated with around a quarter of the genes in the human genome. Patents are extremely valuable to those developing products based on genetic discoveries. They are issued to encourage innovation, and provide protection to allow those investing in genetic research the opportunity to maximize the profit from their investment.
However, when patents limit the use of basic genetic information, they threaten to inhibit or limit biomedical research. There are concerns that the large number of patents associated with the human genome will limit the integration of personalized medicine into health care either because of restrictive patents or prohibitive costs. So-called "patent thickets" therefore have the potential to inhibit the translation of genetic discoveries into health care benefits.
Central to the debate over the patenting of genetic discoveries is the question of what criteria should determine whether a discovery is patentable. Are genes part of our collective heritage that should not be patentable at all? Alternatively, if genetic discoveries are patentable, how should a legitimate discovery be defined? Should the isolation and purification of genes from their natural state be a sufficient basis for a patent, or should the applicant be required to demonstrate a use for the discovery?
The United States Patent and Trademark Office (USPTO), the agency that issues patents in the United States, has developed guidelines on the patenting of genetic discoveries. The current guidelines state that identification of a gene's sequence alone is not patentable, but that a gene isolated from its natural state may be patentable if the applicants can demonstrate "specific, substantial and credible utility" for the discovery. See: United States Patent and Trademark Office Utility Examination Guidelines [uspto.gov] (2001).
Since its inception, the Human Genome Project and its planners emphasized that in order to reap its maximum benefit, new DNA sequence should be freely available in the public domain. Thus, all sequence information acquired during the Human Genome Project was immediately deposited into databases that can be accessed via the World Wide Web. However, patents on some gene sequences and other types of information derived from genetic sequences have been granted.
Due to concerns that gene patents were being granted too liberally, then-National Institutes of Health (NIH) director Harold Varmus and then-National Human Genome Research Institute (NHGRI) director Francis Collins wrote to the U.S. Patent and Trademark Office (USPTO), the agency that issues patents in the United States, urging them to implement stricter criteria for biotechnology patents. In part as a result of this letter, in January 2001, the USPTO revised its guidelines on DNA sequence and sequence-derived intellectual property and raised the bar on genetic utility standards.
The 2001 revision improved the guidelines, but there is still concern that the standards are not rigorous enough. New issues have emerged surrounding the possibility of patents on newer types of genomic data, such as "haplotypes", protein structures, and expression array data. As with genes, if these genetic data are patented, the fees and potential reach-through restrictions may inhibit biomedical researchers from conducting additional research with these foundational tools.
The NHGRI, in partnership with other organizations, is actively working on these issues of patent and licensing policy, in hope of maintaining the level of access to basic genomic data that will ultimately benefit researchers, care providers and patients. The NHGRI, in partnership with other NIH institutes, funded the National Academy of Sciences report Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights, Innovation, and Public Health [nationalacademies.org], completed in 2006.
2009 saw more developments in the realm of gene patenting. During 2009, the Secretary's Advisory Committee on Genetics, Health and Society prepared a report on 'Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests.' Somewhat controversially, the report recommended that diagnostic (but not therapeutic) genetic tests, be exempted from patent infringement, along with a research use exemption. A draft copy of the report was released in summer 2009, with the final report expected to be published in the first quarter of 2010. Gene patents also went to court in 2009. The American Civil Liberties Union, along with a coalition of other groups filed a lawsuit against Myriad Genetics, the USPTO, and the University of Utah Research Foundation, challenging the constitutionality and validity of the BRCA1 and BRCA2 gene patents. In March 2010, Judge Robert Sweet ruled in favour of the plaintiffs and against Myriad Genetics, finding that the BRCA1 and BRCA2 genes were products of nature and therefore not patentable material. The case is expected to be appealed, and currently only applies to the BRCA1 and BRCA2 patents held by Myriad, not all gene patents.
NHGRI Interest in Intellectual Property
Balancing Intellectual Property Rights with Research Needs: A Report from the National Academy of Sciences
On November 17 2005, The National Academy of Sciences' (NAS) Committee on Intellectual Property Rights in Genomic and Protein Research and Innovation released its report Balancing Intellectual Property Rights with Research Needs: A Report from the National Academy of Sciences. The report was funded by the National Institutes of Health (NIH).
This well-crafted report identifies some of the most pressing issues regarding use of intellectual property in the life sciences, lays out these issues clearly and recommends actions to a variety of stakeholders. Many of the report's recommendations endorse the current NIH policies regarding intellectual property and data release. The NIH will focus on responding to these recommendations.
- Go to the meeting webcast, news release and full report [nationalacademies.org]
Other Concerns and Activities
- The Future of Genomic Medicine: Policy Implications for Research and Medicine
NHGRI Policy Roundtable, November 16, 2005
- NHGRI Roundtable on Genetic Patenting
Summary of NHGRI Roundtable, December 4, 2002
- NHGRI Policy for Release and Database Deposition of Sequence Data
December 21, 2000
- NHGRI Policy Regarding Intellectual Property of Human Genomic Sequence
April 9, 1996
Report and Policies
- Gene Patents and Licensing Practices and Patient Access to Genetic Tests
- Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) [grants.nih.gov]
- The Licensing of DNA Patents by U.S. Academic Institutions: An Empirical
Nature Biotechnology, January 2006 (Research funded by NHGRI)
- Report from the Royal Society re: patenting [sciencemag.org] Science
- NHGRI Rapid Data Release Policy
- The Ethics of Patenting DNA, Nuffield Council on Bioethics [nuffieldbioethics.org]
- The Effects of Patenting in the AAAS Scientific Community [sippi.aaas.org]
- Genetics and Patenting [ornl.gov]
Summary from the Department of Energy
- American College of Medical Genetics Patent Primer [acmg.net]
- Genes and Ingenuity: Gene Patenting and Human Health [autlii.edu]
ALRC 99, 2004. Australian Law Reform Commission.
Last Reviewed: May 21, 2012