Gene patents have always been a contentious topic, as many have questioned whether the products of millions of years of evolution really merits the same sort of protection that a new process technology does. Nevertheless, the issue appeared to be diminishing in importance, as the rate of gene patenting dropped and most researchers weren't finding their work inhibited by patents. Now, it appears that the issue will be coming back to the fore, as the ACLU is announcing a major lawsuit against Myriad Genetics, which holds patents related to testing for mutations in the BRCA1 and BRCA2 genes, which are often mutated in hereditary breast cancer cases.

The ACLU is organizing and promoting the suit—it has a website devoted to it, complete with video—but it has been joined by a variety of academics involved in clinical research, as well as a number of medical organizations, including the American College of Medical Genetics, and three different pathology groups. Patients affected by the limits placed on BRCA testing have also joined the suit. The ACLU has lined up statements of support from a number of organizations that focus on medical ethics, as well as a Nobel Laureate. The heavy legal lifting will be done by the Public Patent Foundation, which is associated with the Benjamin N. Cardozo School of Law.

On the receiving end of all that legal firepower are the groups associated with the patents, the University of Utah Research Foundation (the BRCA genes were first identified by researchers located at the U of U) and the company the patents were licensed to, Myriad Genetics. But the suit also brings in the US Patent and Trademark Office, which granted them in the first place.

The BRCA patents and their discontents

To understand the issues, it's necessary to take a short diversion into the patents themselves. When the genes were first cloned and the patents filed, it wasn't clear that a genetic test was even feasible, as the genes were very large, had many complex mutations, and sequencing DNA was very slow. Fortunately, a small subset of mutations were prevalent in a number of ethnic groups, presumably due to founder effects. This allowed Myriad to market a useful test, which brought in more and more samples. Further analysis of these samples allowed Myriad to build what's currently the most comprehensive database of BRCA mutations and their implications.

These genes, their effects, and the correlations between the genes and disease were created by nature and exist in nature. They are pure information and, in order to build upon them, one needs to utilize the patented sequences, which is not permissible under the patents.

To protect its monopoly on testing, Myriad has continued to file patents that, in sum, prevent anyone from looking too carefully at the BRCA DNA sequences. The patents list a wide variety of common gene variants that Myriad considers significant, but provide no details on what, precisely, their significance is. It even patented the mere action of comparing BRCA sequences in patient samples, even though that process involves little more than standard laboratory techniques and the use of sequence comparison software, free versions of which are available both as freeware and commercial software. In short, perfectly legal techniques become patent infringement when applied to these specific genes.

All of these aspects of the patents come under fire in the suit, which lists all sorts of ways in which the patents have inhibited patient care and science. For example, early in the testing history, variations that weren't recognized as significant weren't examined as part of the standard procedure. Now, improved tests are available, but anyone who had an earlier test done would need to repay for this more detailed information. Several parties in the suit are patients that have insurance that isn't accepted by Myriad, which means they either need to come up with the cash or do without. The suit also alleges that, because the first founder mutations were discovered in Caucasian populations, there's now a strong bias towards variations known to affect these groups; public study of BRCA mutations could correct this, but it is disallowed by the patents.

So far, Myriad hasn't generally enforced its patents against researchers simply interested in studying the gene (although the suit alleges that there are a number of exceptions). But that mere fact places medical researchers in an awkward position. As part of their studies, they're likely to identify BRCA carriers, and will feel ethically compelled to inform them. But this goes directly against Myriad's financial interests, and is likely to see a response from the company.

All of that is bad, but it doesn't necessarily make the patents invalid. The suit argues that the way Myriad has operated, however, violates the basic premise of US patent law. The system was designed so that patents would result in the disclosure of information, which would further progress by allowing others to build on that information. Instead, the way things have been operating, that's impossible. "These genes, their effects, and the correlations between the genes and disease were created by nature and exist in nature," the suit claims. "They are pure information and, in order to build upon them, one needs to utilize the patented sequences, which is not permissible under the patents."

Gene patents as an uncertain value proposition

This seems like a bit of a reach, and I don't have the legal knowledge to evaluate whether these claims are too far out there for serious consideration by the legal system. But, for Myriad, even a loss in the courts may not matter. At this point, anyone with a PCR machine and access to DNA sequencing could obtain the sequence of their BRCA genes without Myriad being any the wiser. In fact, a number of people, such as James Watson, essentially have, as they've had their entire genome sequenced. As sequencing comes down in price, the genie covered by this patent will be forever out of its bottle, making the current attempt to invalidate them little more than an acceleration of the inevitable.

That doesn't mean that Myriad will be out of business, however—thanks to its dominance in this area, it now has a comprehensive database of variants and prognoses that nobody else will be likely to match. In the near future, that will probably mean that it will be in a position to allow anyone to sequence the BRCA genes in any way they want; they'll just have to pay Myriad to have the results interpreted. Of course, that wouldn't stop low-cost competitors from providing a cheaper, but less-accurate analysis, which would open up another ethical can of worms.

Will other companies find themselves in a similar position regarding other genes? Given the current patent system, it's entirely possible. If you'd like to have some say on the matter, the Department of Health and Human Services is in the process of setting an official policy on gene patenting and will be accepting public comment on drafts of the policy for a few more days.