Aaron Berdofe, MHI – Health Informatics

Today marks another moment in the debate between burgeoning genetics companies trying to establish themselves in a growing industry and the American public, who is really just beginning to understand what genetics actually is. It wasn’t too long ago (2000) that the first genome had actually been mapped by J. Craig Venter’s team at Applera (which has gone through a multitude of variations as a company, including the offshoot Celera which is now owned by Quest Diagnostics). The company spent around $300 million sequencing the genomes of the fruit fly and humans. Of course, they piggy backed off of the $3 billion dollar investment of public tax dollars that had gone into the initial scientific advancements which were now freely available in GenBank. Now, only 13 years later, I’m eagerly awaiting the results from my DNA test by the company 23andme which will give me a run-down of my genetic risk-factors and ethnic origins…all for the low, low price, of $99. While we are a distant cry from truly practicing medicine at a genetic level, we have begun to scratch the surface and have at least started labeling all the pieces to the massive Lego set that we are built from.

There have been many, many dystopian forecasts regarding what we can do with this knowledge, from trait selection in our future children all the way to Jurassic Park, but in reality, we don’t know what the future will hold, because we don’t know what we will be capable of. We also do not know the full ramifications of taking action with the little knowledge that we do have. This is why genetically modified food is such a hot button issue for some. Yet, when an entirely new world is lain before us, we as a society have always attempted to set some ground rules before jumping in. The case before the Supreme Court today will be a critical moment in setting the rules.

Despite what some think and what gets portrayed in the media sometimes, patents were actually created as a way for governments to encourage individuals to share new inventions and ideas without fear of someone else stealing them. The system gives incentive to people by allowing them to profit for a certain period of time off of their creation, but the catch is that the knowledge of whatever it is that they came up with is now in the public domain. However, the law states that things created by Nature or that occur naturally cannot be patented. This is why we cannot patent elements, or the Law of Gravity. We can only patent how we modify them. In the case of the current genetics debate is not necessarily whether a gene can be patented or not. The answer to that is a clear “No” as it is a natural thing. What is being debated is whether the information about the gene and how that gene is isolated and identified can be patented or not.

Even before Applera had sequenced the entire genome, very clever patent clerks were coming up with ways to lay claim on the work geneticists were doing. Each person has variances or mutations in their genetic code called Single-Nucleotide Polymorphisms or SNPs (pronounced “snips”) for short. There are a handful of ways to identify SNPs which I barely understand sometimes just beyond the ability to pronounce the name of the methods, but they all deal with modifying the DNA sequence and marking the beginning and end. Thus, what is pulled out or isolated isn’t natural, it has a human created modification. Therefore, the first person to isolate a gene puts a patent on where it is along the entire sequence which forces other people to use that patent if they want to use the same location for whatever they are working on. The best way I can picture this is that someone comes along and sets up a fence around public land and then charges people for using the gate that they built.

The back story behind the case at the Supreme Court right now is that Myriad Genetics, not only has done this, but also has also compiled a very large database of what these genes do and they are keeping it to themselves in addition to profiting off of the information. This, very understandably, pisses off quite a few people who want to use this knowledge to actually help people. In a sense, this is exactly what the idea of a patent is supposed to prevent. Knowledge, should be accessible by everyone, but what to do with that knowledge is patentable.

My honest guess as to how this will all turn out is that there will be a certification process much like what the FDA has for drugs that genetic tests and products will have to go through before being allowed to be used in the market. Through this process the details of what knowledge of nature has been gained by the company will be illuminated, just as clinical trial results are released by drug companies. The scientific process is dependent on building upon previous work so there is no doubt that the knowledge found should be shared, but the people doing that work do need incentive to continue doing what they do. Right now, I would bet the Supreme Court will be very surgical in their decision as to what claims that are being presented are valid, but hopefully whatever the final opinion is it will be in the interest of making sure the knowledge gained is not hidden away.

 
UPDATE: Supreme Court says you can’t patent genes, Synthetic ones are ok though. Good news!