A whole lot of buzz was generated by the confessions of a certain actress/director/humanitarian/general good-guy. I wish her all the best. To me the best thing about Ms. Jolie’s disclosure is that it has led to is a really useful discussion around the patenting of genes. BRCA-1 is actually a normal gene. It is what we call a tumor suppressor gene. It looks for DNA in cells that is damaged and either fixes the DNA or destroys the cell. The idea of this and other tumor suppressor genes is that if you fix or eliminate abnormal cells, cancer, which is comprised of abnormal cells, cannot form. If you have a mutation in this gene, those damaged cells can reproduce and form cancer. The existence of such a gene was posited as early as 1990 and it was cloned in 1994 by some people at the University of Utah as well as the federally-funded National Institute of Environmental Health Sciences. Myriad Genetics, a molecular diagnostic company founded by researchers who worked at the University of Utah, immediately patented both the BRCA-1 and BRCA-2 genes.
A gene patent is a subset of a larger group of patents called biological patents. Since the 1980s you can apply for a patent for a chemical composition or original plant or animal that you create using recombinant DNA technology. In the case of genes, you can apply for a patent on the sequence of a gene, a gene that is used for diagnostic of purposes, the process of sequencing a gene, or a gene that has been modified by you. The only genes that have been patented are isolated gene sequences with known functions. Essentially, genes are naturally-occurring entities and can’t be patented because they are not a discovery or invention. But if you can find an isolated sequence that doesn’t exist alone in nature that you can use for something or modify in some way, the idea is it’s no longer natural, but an invention.
Myriad took it’s patents and created a company with a profit in 2012 of $500,000,000, mostly by creating and exclusively providing a diagnostic test to determine if a persons DNA has mutations in the BRCA-1 or -2 genes. You can only get the test from them. They can charge whatever they want. You can’t get a second test from a different source to confirm the first result. It will set you back $3,000-$4,000. Health Insurance does not have to cover it. Unsurprisingly, several patient advocacy groups, civil liberties groups, and patent groups objected to Myriads patents. Around 2012 the Association for Molecular Pathology (AMP), along with a number of other entities represented by the ACLU, challenged the validity of these patents in court. The lower court decided the patents were ineligible but Myriad appealed to the Federal Circuit Court of Appeals, which said the opposite. So AMP and everybody else went to the Supreme Court, which sent it back to the Circuit Court, which didn’t change it’s mind, so was sent back to the Supreme Court and is due to be heard this summer. Guess what? The patent on BRCA-1 is set to expire in 2014.
The patenting of genes extremely controversial but hasn’t been in the spotlight recently. Advocates of the patenting say it creates incentives for researchers to find new genes and use them to create diagnostic and therapeutic uses. Detractors say you can’t patent a naturally-occurring entity. I will say the researchers who founded Myriad were certainly incentivized. Big Pharma uses the R&D argument and they have a point. It costs a great deal of money to develop drugs and tests, and a privately owned company is not going to survive, let alone thrive, if it has to give away all it’s discoveries. But a gene is not a drug. A gene is a component of every cell in our bodies. It is a basic part of existing. It determines you eye color, your short index finger, your height. Genes are a dice-roll. Ms. Jolie got unarguably fabulous genes in most senses, but not all. There’s nothing you can do about your genes. You get what you get. Monetizing these genes is a bad idea. If you do that, you’re asking people to start paying for information about themselves.