If your doctor orders a genetic test for a single-gene disorder (often one that might be caused by variants in any of several genes), chances are that the gene or genes being tested in you have been patented. This has provoked 25 years of debate and, more recently, litigation. The most salient question of the moment is, if a patented genetic test is offered by only one lab, then what can and should a patient do?
As part of the implementation of the Leahy-Smith America Invents Act, Congress has directed the United States Patent and Trademark Office “to study effective ways to provide independent, confirming genetic diagnostic test activity where gene patents and exclusive licensing for primary genetic diagnostic tests exist.” To that end, the USPTO has requested public comments and held public hearings in order to gather information for the genetic testing study it must submit to Congress by 16 June 2012.
All of this, of course, was precipitated by AMP v. USPTO (“The Myriad Case”), in which patients with family histories of breast cancer asserted that they have not been able to get confirmatory or “second opinion” testing because there is but a single, exclusive licensee of the patents on the most clinically important genes that predispose to hereditary breast and ovarian cancer, BRCA1 and BRCA2.
I attended the public hearing at the USPTO in Alexandria, VA on 16 February 2012. I was so appalled by what I heard that I attended the second one in San Diego on 9 March 2012 and testified. I am still adding links to my testimony in order to submit it before public comment closes on 26 March 2012. Here is a brief excerpt on Myriad’s unwillingness to share its mutation data:
Unlike the NIH-funded Breast Cancer Information Core, unlike the international collaborative mutaDATABASE (Myriad is the only one of two genetic diagnostic labs I know of that does not participate in this database), unlike databases for virtually every other Mendelian condition I know of, Myriad’s mutation data are not open to independent verification, scientific scrutiny, or use by the breast cancer genetics community for interpretation of variants of unknown significance. For Myriad’s legal counsel to stand here this morning and take credit for the mutation data resident in the Breast Cancer Information Core despite not having contributed data to it for more than seven years (November 2004 was the company’s last significant deposit of mutation data [and Cook-Deegan et al., in preparation], is what my mother would call chutzpah. This same nondisclosure of mutation data was practiced by Clinical Data when it held the exclusive license to long QT syndrome IP over a period of several years. Only after my colleagues and I started asking obnoxious questions in 2008 did Clinical Data announce with great fanfare that it would release its mutation data. As a monopoly Myriad’s behavior has direct, unilateral effects on 1) the practice of medicine; 2) who sets the standard in breast cancer genetic diagnostics; and 3) the availability of data that would otherwise be shared. Data, by the way, that could only have been generated because of research underwritten by American taxpayers (pdf) since the 1990s.
Whether mutation data should be treated as trade secrets a la the formula for Coke or as freely available information in the interests of science and public health is a question that captures the sharp edges of this debate. Gene patenting, it seems to me, is often like abortion: a divisive, polarizing subject in which the two sides tend to talk past each other, with neither particularly interested in what the other is saying. My sense is that Congress, the USPTO and the courts are trying to navigate a middle ground that assuages angry patients without antagonizing a biotech community that insists on patents as a necessary incentive to innovation.
I don’t envy them.