Last fall, the journal Science reported that one-fifth of known human genes have been patented, some as many as 20 times. This surprising result highlights the fact that in America, private entities can now assert ownership over natural phenomena. Even our own genetic constitution is up for grabs.
Genetically, humans vary only slightly. Our genome is a palimpsest reflecting millions of years of speciation and evolution: a sequence of 3 billion nucleotides, 99.9 percent of which is common to all of us. But this shared genomic inheritance is increasingly sequestered by private interests, severely limiting its availability for future biomedical research.
Until recently, living things were insulated from patent claim. In 1948, the Supreme Court ruled that a particular mix of bacteria was “no more than the discovery of some of the handiwork of nature and hence … not patentable.”
This changed in 1980, when the Supreme Court ruling in Diamond v. Chakrabarty allowed the patenting of a genetically engineered microbe useful for cleaning up oil spills. Since then, patents have been obtained for biological material ranging from gene sequences to entire organisms, such as the Harvard OncoMouse.
To understand the problems with this, consider the aim of patents.
The term derives from the Latin patere, meaning “to lay open.” Patents are, in effect, limited property rights granted by the government to inventors: In exchange for making public the details of an invention, the patentee is afforded some rights over its use for a number of years. Typically, patent holders exercise this right by excluding others from making, selling or using their invention, or by charging a fee to those who do.
But the human genome is already public: The full sequence and all updates are deposited in freely accessible databases. Here, patented genes present a curious problem. Researchers can look but not touch: Reading the sequence is allowed, but any amplification or assay that crosses patent boundaries is not.
In short, patents — originally conceived to encourage inventors to impart new knowledge to society — are here used for the reverse purpose, to sequester potentially profitable public information and to grant private entities exclusive rights over its use.
Since 2001, patenting a raw nucleotide sequence is no longer allowed. Patents must now include gene function, or demonstrate some novel, non-obvious use for the sequence, like a disease assay. Still, patents are worded as broadly as possible and often have the net effect of obstructing researchers from investigating medically relevant genomic sequence, even for reasons that differ from those stated in the claim.
On Tuesday my colleague Chris Mason, a post-doctoral researcher here at Yale, spoke at a Yale Law School Information Society Project luncheon about the problems of gene patents in a clinical setting.
One example he presented was BRCA1, the famous marker gene patented by Myriad Genetics in 1994. Sequencing this gene in any individual can reveal their susceptibility to breast cancer.
Mason could easily swab your cheek, then amplify and sequence your BRCA1 region in the lab: A few hours and $50 later, he could report your genetic predisposition to breast cancer. But this would constitute patent infringement, as Myriad retains the rights to examine this gene in your body and everyone else’s. They sell this same assay for $500.
Sequencing a gene to look for mutations is hardly “non-obvious” to even beginning students of genetics. Yet the BRCA1 patent stands, and many more like it.
So what can be done? At the ISP Luncheon, several ideas were discussed.
The most obvious is simply to challenge Diamond v. Chakrabarty. Much of today’s genetic understanding was simply not available when this case was decided. Since 1980, we have moved beyond the “one gene, one protein” hypothesis; we now realize that a single gene can exert broad effects due to pleiotropy, alternate splicing and differential regulation. Genes should not be patented while much of their potential function remains unknown. Direct legal reform, though difficult and sluggish, is the surest way to insulate naturally occurring genomic sequence from patents in future.
Another interesting approach would use the existing patent machinery against itself. If scientists race to patent every possible gene and sequence feature — but attach Creative Commons licenses to each — we could lay claim to a large amount of genetic material and exploit that claim to ward off commercial patents. (The patient advocacy group PXE International pioneered this in 2004, patenting a gene relevant to their illness solely to ensure its continued availability to researchers.)
Patents are designed to cover invention, not scientific discovery. Watson and Crick didn’t patent the double helix, Clyde Tombaugh didn’t patent Pluto, and Isaac Newton can’t bill you whenever an apple falls from a tree. The realities of the natural world are discovered, not created.
Aggressive patenting of human genes is counterproductive. Sequestering public genome information behind corporate curtains impedes taxpayer-funded research. The cost to society is severe.
And yet, the best response may be to file more patents.
Like-minded scientists, unite: Let’s patent genetic material for public use, before our entire genome is impounded by private interests.
Michael Seringhaus is a sixth-year graduate student in the Department of Molecular Biophysics and Biochemistry. His column appears on alternate Thursdays.