The patient, 45, has been complaining of a low sex drive. His skin is bronzed and his liver is enlarged. The symptoms seem to suggest hereditary haemochromatosis.
Resulting from a buildup of iron in the body, the disease can lead to liver, pancreas, and heart failure if left untreated. Even though it is one of the most common disorders in the U.S., it is often difficult to diagnose until organs are already damaged.
Luckily, genetic testing can help. Two common mutations in the HFE gene are thought to be responsible for 80-85% of haemochromatosis cases. Testing for the mutations can lead to an earlier diagnosis, earlier treatment, and the prevention of organ failure. However, many laboratories have stopped carrying these genetic tests, making this patient a victim of gene patenting.
Genes Up for Grabs
“Gene patenting” encompasses any process involving DNA or RNA isolation. A patent gives its owners property rights over gene sequences. Such rights may include using the sequences in diagnostic tests or in the development new drugs or therapeutic proteins.
Contrary to popular belief, gene patents are nothing new—the earliest ones were obtained in 1978 on the gene for human growth hormone. Since then, public and private entities have been filing for and obtaining patents from the United States Patent and Trademark Office (USPTO).
When scientists announced in 2000 that the human genome was almost completely mapped, requests for patents exploded. Rapid sequencing techniques made it relatively inexpensive and easy to obtain new genetic information—and, inevitably, the patents that went along with it.
Fast forward to 2005, when a study in Science reported that over 4,000 genes of the almost 24,000 human genes had been claimed by private firms and universities, nearly one-fifth of the known genome. The finding furthered the controversy already present in the scientific community: How could something as so intrinsic as our genetic makeup be owned by outside sources? And what would be the ramifications?
The Process
Generally, raw products of nature cannot be patented. No one, for instance, can patent gravity or the speed of light. Why, then, do genes make the cut?
One explanation invokes “progress.” The patent system aims to offer a complete disclosure of a discovery to the public. It gives protection without secrecy—scientists are encouraged to share their results without the worry that others will make, use, or sell the product.
Full disclosure can bring equity, since all researchers are ensured access to the new discovery. Shared knowledge can also prevent wasteful duplication in a research area and help guide investigations into new, unexplored areas.
To apply for a gene patent today, inventors must: 1) identify novel genetic sequences, 2) specify the sequence’s product, 3) specify how the product functions in nature, and 4) enable someone skilled in the field to use the sequence for its stated purpose.
These guidelines frequently disqualify gene fragments from the patent process. Since full sequence and function are often not known for pieces of genes, the USPTO has issued only a few patents for them.
On pending applications for fragments, purpose is often vague— they can help find another gene or help map a chromosome. This is not enough for the USPTO. It wasn’t always this way.
These relatively strict regulations were first developed in December 1999, in part due to harsh criticism from scientists. Many argued against the patenting of genes in such an early stage of human genome research, especially since applicants had not characterized the genes nor determined their functions and uses.
The more stringent guidelines were adopted in January 2001, and put an emphasis on “usefulness.” No longer could researchers identify a gene, claim its usefulness in finding other genes, and receive a patent.
According to the U.S. Federal Register, “patents do not confer ownership of genes, genetic information, or sequences.” “Ownership” or not, a patent can give the holder the power to harness—or to exploit—what our genes have to offer.
More Fees, Fewer Tests
Yet even with these restrictions, much of the human genome remains as potential territory for new owners. And unintended consequences that hinder research and patient care have surfaced.
For example, the HFE gene that is strongly linked to haemochromatosis was discovered by the Californian company Mercator. After receiving a patent for the gene, Mercator merged with another firm.
This firm then licensed the patent to a medical laboratory, who then finally sold the patent to Bio-Rad. The patent effectively gave Bio-Rad a monopoly on testing for the mutations in patients suspected to have haemochromatosis.
According to a Nature study, the monopoly testing has led to 30% fewer labs offering the test than would have had the gene not been patented. About a third of 128 laboratories had either stopped carrying out genetic tests for the HFE mutation or had not introduced them because of the restrictions imposed by Bio-Rad.
This is not an isolated case. Genetic testing can confirm Cavanvan disease, one of the most common cerebral neurodegenerative diseases in infancy in which the white matter of the brain degenerates. When both parents are found to carry to Canavan gene mutation, there is a 25% chance with each pregnancy that the child will have the disease. Symptoms may include mental retardation, loss of motor skills, paralysis, and blindness. There is no cure and few children make it past their teenage years.
The Miami Children’s Hospital identified the gene for the disease in 1993, and the Canavan Foundation began to offer free screenings for carrier testing. The Miami hospital then obtained a patent for the gene in 1997 for the gene and related applications, including carrier and related testing. Now, the hospital is limiting the number of labs that can offer the screening test and it requiring those labs to pay fees for a license. Additionally, the disease may not be tested for with traditional genetic screening—even using procedures that were not developed by the Miami Hospital.
A Backward Step Forward?
The tide of gene patents may be turning, however, starting overseas. In Europe, gene patents are much tougher to uphold than in the United States. The 2004 decision of the European Patent office to revoke a controversial breast cancer gene patent reflected that disparity.
The dispute arose because a research center in the UK had filed its patent on the gene before the current patent holder, Myriad Genetics of Salt Lake City, did. This meant that Myriad’s patent could not be considered “original” or “inventive.” The decision stopped the American company from issuing license fees for European screening tests using the gene. The revocation allowed for cheaper breast cancer screening across Europe. It also put pressure on the U.S. Patent and Trademark Office to more carefully regulate “obvious” gene patents.
What isn’t so “obvious,” however, is how to define the boundaries of a race whose finish line is nowhere in sight.
Further Reading
- American Journal of Bioethics Resources: https://www.bioethics.net/bioethics-resources/archive/
- CRS Report for Congress on Gene Patents: https://www.ipmall.info/hosted_resources/crs/RS22516_061003.pdf
- Human Genome Project Information: https://www.ornl.gov/sci/techresources/Human_Genome/elsi/patents.shtml