Gene Patents

Not a day goes by that breast cancer does not figure in the news, at least at some level.  There are reports of new treatment options, reports of high-profile women who have been diagnosed, reports of improvements in early detection, and many other stories of how it affects our lives.  With approximately 12% of women likely to develop an invasive form of the disease sometime during their lives, there are few among us who are not impacted by it.

In 1994 and 1995, the BRCA1 and BRCA2 genes were isolated (the name of the genes is derived from “BReast CAncer”), representing one of the most significant advances in understanding the disease.  Women who carry mutations of these genes have an 82% risk of developing breast cancer and a 54% risk of developing ovarian cancer by age 80.

This ability to test for mutations has radically altered the lives of many women.  Before isolation of the genes, women who had a family history of breast cancer lived much of their lives under the assumption that it was merely a matter of time before they developed it also, and often feared that their daughters would one day endure the same heartbreak they had seen in their mothers.  Genetic tests for mutations now offer many greater options for women.  Those who test negative for the mutations are provided with reassurance not only that they are not at increased risk for breast cancer but that their children are also not carriers.  Those who test positive have a more realistic assessment of their actual risk and can avail themselves of options that range from increased monitoring to prophylactic mastectomy.

While no one disagrees that the ability to test for the genes is a positive development for women, many people object — strongly object — to the fact that there is a government-enforced monopoly on the right to administer such tests that was granted to the company Myriad Genetics.  Information about the test, called BRACAnalysis® is available at the web site here.  The cost of the test is somewhere around $400 for a single-mutation analysis (useful if the woman has a known family history involving a specific mutation) and somewhere greater than $3000 for a full-sequence analysis of both BRCA genes.  There is no question that these costs are elevated from where they would be in a competitive market because of the monopoly held by Myriad Genetics; if other companies were permitted to offer similar tests using the technology, competition mechanisms would drive costs lower.

The monopoly held by Myriad Genetics is, of course, a consequence of the patent laws.  Myriad Genetics owns a number of patents directed to isolated forms of the genes themselves and to methods for analyzing a patient’s BRCA sequence.  The patents grant them the right to prevent others from performing the BRCA tests, and they actively make use of that right.  Earlier this week, an appeal was filed with the U.S. Supreme Court challenging the validity of Myriad Genetics’ patents.  At the heart of the issue is the fundamental question:  should companies be allowed to patent genes?

Many believe that corporate profits in an area such as this are unseemly, and it is impossible not to have at least some sympathy with their point of view.  Currently, access to an important genetic test is denied to those women who do not have either the independent financial means or health insurance to pay for it.  A broad public policy that allows gene patents will inevitably result in other genetic tests having similar financial barriers.  Further, it has always been the case that laws of nature and physical phenomena cannot be patented.  Those opposed to gene patents essentially argue that human genes should not be patented because they are created by nature, not by men.

These are important and valid points that need to be considered by the Supreme Court if it chooses to accept the case.  But they fail to tell the whole story and are misleading when presented without a fuller context.

When the Myriad Genetics case was litigated in the original court, the argument that genes were products of nature prevailed, resulting in a ruling that the patents were invalid.  But this was overturned by the appellate court, which noted an important distinction between genes as they occur in the human body and genes that have been isolated:  “BRCA1 and BRCA2 in their isolated state are not the same molecules as DNA as it exists in the body; human intervention in cleaving or synthesizing a portion of a native chromosomal DNA imparts on that isolated DNA a distinctive chemical identity from that possessed by native DNA.”  A full copy of the appellate decision can be read here.  It is that distinction between genes as they occur in the human body  (only as a component of very long strings of chemically linked nucleotides) and genes after they have been isolated (where they consist of only about 0.1% of the nucleotides of the original DNA molecule) that is at the heart of why gene patents are currently valid.

Beyond this technical reason, though, it is worth recognizing the policy issues that argue in favor of allowing gene patents.  Foremost is the fact that the patent monopoly is temporary — the earliest of the Myriad Genetics patents on this technology will expire in about three years, after which the ability of competitors to provide similar services will progressively open up and drive down costs.  In evaluating the prudence of allowing gene patents, it is a mistake to look only at the circumstances during the period when the patents are enforceable — everyone agrees that monopolies have negative consequences on trade, but it is the price we temporarily agree to pay in order to have the technology commercialized in the first place.

Medical scientists also know that BRCA1 and BRCA2 are only a small piece of the puzzle that defines the genetics of breast cancer.  There are many other discoveries yet to be made, and the cost of the research to make those discoveries is large.  The possibility of obtaining a patent that allows a profit to be realized is a major incentive that promotes private investment in the research.

Consider the following choice.  Is it worse to endure a temporary period of time in which our access to technology is limited, leaving the right to profit from it exclusively with those who developed it?  Or is it worse to endure not having the technology at all?  The answer really is no different for genetics than it is for other technologies.

About Patrick Boucher

The author, Patrick M. Boucher, is a patent attorney living near Denver, Colorado and working at Marsh Fischmann & Breyfogle. He holds a Ph.D. in physics as well as a J.D. He is an active member of the American Physical Society, and is admitted to practice law in the states of Colorado and New York, as well as to practice before the U.S. Patent and Trademark Office. He is also a member of the Authors Guild and of the Colorado Authors League.