The ABCC6 Gene and Gene Patenting
This article first appeared in the October 2010 eNewsletter.
Updated for publication in July 2013 eNewsletter.
Update on patenting in the USA
In June 2013, the Supreme Court of the United States (SCOTUS) passed down this ruling in the case of Association for Molecular Pathology et al. v. Myriad Genetics, Inc. et al.: "We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring."
The ruling considered these points:
- Myriad claimed that isolation is an inventive act. SCOTUS countered: "...Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention."
- Myriad thought that the Patent and Trademark Office's (PTO’s) past practice of awarding gene patents is entitled to deference. SCOTUS responded: "Congress has not endorsed the views of the PTO in subsequent legislation...Further undercutting the PTO's practice, the United States argued in the Federal Circuit and in this Court that isolated DNA was not patent eligible..." (Emphasis in the original.
- Myriad thought that their reliance on the patents ought to be a weighing factor in the decision. SCOTUS replied: "Myriad also argues that we should uphold its patents so as not to disturb the reliance interests of patent holders like itself. Concerns about reliance interests arising from PTO determinations...are better directed to Congress."
SCOTUS then went on to comment on cDNA – complementary DNA – a form of DNA artificially synthesized from a messenger RNA template and used in genetic engineering to produce gene clones. They decided that complementary DNA is undeniably a new and inventive product and is therefore patent eligible: "...the lab technician unquestionably creates something new when cDNA is made."
(Source: Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U. S. ___ (2013)
See also: BioCentury This Week, July 7, 2013, Host Steve Usdin
“The Supreme Court says human genes can’t be patented.
Does the Myriad ruling end the debate?”
Watch the interview with Representative Debbie Wasserman-Schultz; Sharon Terry, CEO, PXE International and Genetic Alliance; Michele Wales, Founder and Principal, InHouse Patent Counsel; and Roger Klein, Chair, Professional Relations Committee, Association for Molecular Pathology
What does this mean for the gene associated with PXE?
It doesn’t change anything. PXE International is the steward of the patent for the gene associated with PXE, ABCC6. The 2013 SCOTUS ruling means that the part of the patent on isolated naturally occurring DNA is not patent eligible any more. PXE International and the researchers from the University of Hawai’i also patented cDNA and some other things like methods. Therefore some parts of the patent still stand and one part of it was struck down. Day to day this means nothing; we will still do everything we can to encourage research using the ABCC6 gene. It is a major focus of our work!
We have never used the patent as a means to block or thwart anything. We license the gene freely – to whoever wishes to use it. It is used every day for research projects all over the world. Our reason for patenting it was to make sure it was freely available. If we did not patent the gene, the universities involved would have done so alone and controlled who had access to the gene. Traditionally, the technology transfer offices of universities think of patents as an important asset and usually work to make money for the university through licensing the patent for as much money as they can garner. PXE International on the other hand wanted to hold the patent to free it to be widely used. Holding the patent gave us the right lever to promote research and testing.
The story of the ABCC6 gene and gene patenting
In 1999, a group of scientists, and two nonscientists (Sharon and Patrick Terry, founders of PXE International), created a research enterprise that produced an artificial construct of the ABCC6 gene, as well as cDNA, and methods for determining mutations in the gene that they determined to be responsible for causing pseudoxanthoma elasticum (PXE). The scientists at the University of Hawai’i and the founders of PXE International then applied for a patent on that series of discoveries. The patent issued in the United States in 2004, and in a variety of other countries since that time. The Terrys, as co-inventors and awardees of the patent, then turned over their rights to the patent to PXE International. The University of Hawai’i entered into an agreement with PXE International to allow PXE International to manage and control all rights to the patent. So in essence, PXE International, a non-profit research foundation, is the owner and steward of the intellectual property rights in the form of multiple worldwide patents issued for the diagnostic and therapeutic use of the gene associated with PXE, ABCC6.
Why were the Terrys involved and eligible to be patent holders?
At the time of the discovery, in the USA and in the other countries in which they filed for a patent, anyone who materially participated (works in a real way on the invention) in discovering, isolating and purifying a gene could apply for a patent on isolating DNA. The Terrys worked in a laboratory and in research facilities for a couple of years from late evening until the early morning hours. They also worked with several research groups compiling and analyzing data that led to the discovery and the findings of the gene alterations that result in PXE. If this took place today, the research team would only patent the more ‘artificial’ and technology pieces of the discovery: the cDNA and the methods using the gene.
Why did the Terrys want to patent?
The University of Hawai’i was going to patent the gene, even if the Terrys decided not to participate. PXE International´s board of directors discussed it, and decided that it would be best if an organization interested solely in the wellbeing of people affected by PXE held the patent, rather than an academic university alone. They saw it as stewardship of the gene and a way to ensure that tests and treatments would be developed and made broadly available as quickly as possible. They also saw it as a way to shepherd the gene and all of the research uses and potential medical products of the gene (research probes, cellular assays, diagnostic testing, clinical care integration, and therapy development) into widespread use for as little cost as possible.
PXE International wanted to advance patient interests as its first priority in translational research and delivery of healthcare for all those affected around the world. Patenting of the ABCC6 gene was simply a method to help us do that more effectively. Even in early negotiations, the University wanted to know why PXE International was not charging a great deal of money to laboratories that wanted to perform genetic testing. PXE International explained that if they charged small amounts of money ($100 for a lifetime license to use the gene, for example), then there would be no cost passed on to people who need the PXE test. If the University held the rights to the patent, they would likely charge the testing labs a large license fee, and then the testing lab would pass that cost on to the patients.
Does being the patent holder mean PXE International is controlling all access to the ABCC6 gene?
Does the 2013 SCOTUS ruling on gene patenting open access to the gene in a way it did not enjoy before?
No and no. PXE International does not interfere with any PXE research. It in fact supports, funds and enables the research - ~$20 million since 1995. Since PXE International never used the patent to deny access, and it has always enjoyed open access, the ruling makes no difference. In the years since PXE International has held the patent, there have been more than 400 research projects on the gene resulting in published papers. Research on PXE is open and unfettered.
Some other diseases, however, are good examples of how gene patents have blocked access to the gene. For example, the BRCA1 and BRCA2 genes were part of the 2013 SCOTUS decision because they have not been free and open access. The company, Myriad, that held the patent wouldn’t allow others to do genetic testing on the genes. Even worse, the company does not share the variants/mutations they find. They keep a proprietary database of mutations private. This means that the clinicians who need to use those variants to help determine whether individuals might be at risk for cancer cannot access the information. The database for mutations in the gene associated with PXE was the first for a rare disease and is still the most complete. View the ABCC6 mutation database here: http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6
Does PXE International support Myriad Genetics in their patent lawuit regarding the BRCA1 and BRCA2 genes?
No, it does not. CEO Sharon Terry is also CEO of Genetic Alliance, a disease umbrella organization. Genetic Alliance is spearheading a campaign called Free the Data, along with a number of other organizations. This campaign is giving women the tools to share their variants, so that the open database can be built.
Does the PXE gene patent prevent patients from having access to diagnostic testing?
Not at all. PXE International actually enables, subsidizes and supports patient access to genetic testing around the world because of the gene patent. Please see our webpage and bulletin on genetic testing. PXE International offers free genetic counseling and enables access to testing.
Have any research or testing labs been turned down when they asked to use the gene?
No. No researchers, labs, companies or universities that have asked to use the gene have been turned down. PXE International only charges to license the gene if the company or university will make money from their activity with the gene. In those cases, the charge is minimal ($100 for life), so that no additional costs are ever passed on to the people affected by PXE.
Patenting costs a great deal of money in attorney's fees. Did PXE International waste precious money on patenting?
No, PXE International received all of the attorney´s work pro bono, meaning the firm donated their services to the Foundation for all of the work, including the international filings.
Are most genes patented by companies?
No, in fact universities hold far more patents on genes than companies. There are a few other patient organizations like PXE International that also hold patents.
Sharon Terry is also CEO of Genetic Alliance, a network of 10,000 organizations, including 1,200 disease advocacy organizations. What does Genetic Alliance say about gene patenting?
You can read Genetic Alliance´s position on gene patenting on their website at: http://www.geneticalliance.org/sites/default/files/pressreleasearchive/AmicusBriefPatentingRelease.pdf
In general, Genetic Alliance holds that the licensing practices of the patent holder are far more important than the actual patent. Further, it is spearheading the Free the Data campaign to create an open public database and innovation so that people will get the tests and treatments they need as quickly as possible.
For more information, please contact Sharon Terry, firstname.lastname@example.org, 202.362.9599.