Researchers Feel Threatened by Disease Gene Patents

Do patents on genetic information hinder research? That long-festering debate arose again recently, following a report in the Guardian newspaper that Great Britain and the United States are negotiating an intergovernmental agreement aimed at preventing entrepreneurs from profiting on such patents.1 Although the accuracy of the report, which drew on documents received under the Freedom of Information Act, was denied by a spokesperson for the Office of Science and Technology Policy's director, Neal Lane, it sparked interest from other U.K. media, including the British Broadcasting Corp. (BBC) and Nature. Celera Genomics of Rockville, Md., is the private company sequencing the human genome in an effort separate from that of the international governmental project. "The notion in the Guardian that we're out to patent all the human genetic information is just not accurate," declares J. Paul Gilman, Celera's director of policy planning. He emphasizes that the company's primary business is selling access to the raw information in sequence databases, rather than discovering and patenting disease genes. But Celera's lag time between sequencing and releasing the information to the public is three months rather than 24 hours, and Gilman acknowledges, "We have said we will try to develop intellectual property on somewhere between 100 and 300 genes." He suggests that companies such as Incyte Pharmaceuticals of Palo Alto, Calif., whose profits depend on proprietary databases of genetic information, would be more likely than Celera to suffer from any government moves to inhibit patenting. However, Incyte president and chief scientific officer Randy Scott says he suspects that governmental concerns are over patenting of genes with the attempt to license them exclusively, rather than on the gene products, diagnostic tools, and antisense components with which his company is involved. He adds, "Our philosophy has always been to license broadly and nonexclusively." Incyte's database of single nucleotide polymorphisms (SNPs) is of potential interest to customers for diagnostic purposes, because some SNPs may prove to be either useful markers of disease processes or direct participants in those processes. "Why would you want to pursue researchers and block them from using these diagnostic methods?" Scott asks. "I think the market forces are driving toward nonexclusivity." Jon F. Merz, an assistant professor in the University of Pennsylvania's Center for Bioethics, likens disease gene patents--which claim all methods for diagnosis of a particular genetic condition--to patenting of HIV by a private company that could then prevent anyone but licensees from working on therapies. He says his own inquiries reveal there are currently more than 40 broad disease gene patent claims. In a recent paper, he wrote that many patents are being licensed exclusively to large clinical laboratories that then may prevent molecular pathologists and geneticists from performing the patented tests. "Other cases where someone has monopolized a medical service, especially by patent, are hard to imagine."2 He offers examples of exclusive patent rights on diagnostic tests for a hereditary hemochromatosis gene mutation; the BRAC1 and BRAC2 genes implicated in ovarian and breast cancers; the spinocerebellar ataxia type 1 gene; the Charcot-Marie-Tooth disease type 1A gene; and apolipoprotein E genotyping for late-onset Alzheimer's disease. Disease gene patents often aren't granted until two years or longer after first publication of a discovery. By then labs that have adopted the test may face patent or licensing fees, or even prohibition against performing the test. "It's a strong disincentive," he notes. "If you think something is being patented, why spend resources to do the test? So this may mean the test won't be widely disseminated." Late last year Myriad Genetics Laboratories Inc. of Salt Lake City, sent a letter to the University of Pennsylvania. The university's Genetics Diagnostics Laboratory was performing BRAC1 diagnostic tests for other institutions. The Myriad letter announced that, having been awarded U.S. patents for the sequences of the BRAC1 gene, the company would allow the lab to continue this work, under restrictions, if a fee was paid for each test. Arupa Ganguly, research and development director in the university's lab, is involved in screening disease genes, but the Myriad letter excluded such screening of the coding sequences of the BRAC1 gene. Since Myriad first introduced commercial BRAC1 tests in October 1996, the company has detected hundreds of novel mutations, and prohibitions in its patents against unlicensed observation of the gene are broad. Ganguly claims the royalties that would be due Myriad for diagnostic tests performed at the university for other institutions would make such tightly budgeted, nonprofit work untenable. As co-principal investigator on a project funded by the National Cancer Institute (NCI) that includes eight institutions nationwide in a Cancer Genetics Network, she says when she tried to get permission to run BRAC1 tests on samples from the other network participants, Myriad refused. "It seems that in this country, if you have a patent, that's it. You can monopolize testing," she fumes. "It's outrageous." She believes "this will happen with every gene that can be patented." Myriad president Gregory C. Critchfield points out that 13 institutions in the country have taken up the limited access offer to test for the gene. "Myriad's position is to not require a research license for anybody," he asserts. "That's an extremely liberal stance for a biotechnology company." Separate research and commercial licenses are issued by many biotech companies, he says, but Myriad is concerned only with commercial infringement. The company is in the business of full sequence analysis; thus, screening for new mutations in their genes is work that could have commercial applications. "We have to ask, what is the research question?" He argues that patenting of such medical services ensures quality, because it justifies the immense expenditures that go into developing technology and methodologies. "The University of Pennsylvania is the only institution, to my knowledge, that we've had problems with, and it's primarily because of commercial considerations," he says. "We will be speaking with the NCI about this very shortly and will get the matter resolved." Meanwhile, Deborah Leonard, president-elect of the Association of Molecular Pathologists and director of the Molecular Pathology Laboratory at the University of Pennsylvania School of Medicine, is involving representatives of five other professional specialist organizations in discussions of how to influence policy to protect researchers against potential inhibition of their work by patent or license holders. "I think technology transfer offices need to understand the impact this is having," she says. In many cases, academicians make gene mutation discoveries, but exclusive rights may then be sold through the school's technology transfer office to a private concern. "They see it as a business use, but the business of that company is medicine." She's worried about physicians being prevented from clinical diagnostic use of patented disease genes. New legislation to exclude researchers from such patent restrictions and to compulsorily license physicians is a possibility, Leonard thinks, but for now, she wants to concentrate on policy changes. University technology transfer offices don't have the infrastructure to administer nonexclusive licenses and then manage a royalties business, she notes. "Maybe they can differentiate between commercial licenses and research licenses." Not surprisingly, she sounds uncertain. Like many issues in this complex and emerging field, much remains to be resolved. Steve Bunk (sbunk@uswest.net) is a contributing editor for The Scientist. D. Hencke et al., "Blair and Clinton push to stop gene patents," Guardian, Sept. 20, 1999. www.newsunlimited.co.uk J.F. Merz, "Disease gene patents: overcoming unethical constraints on clinical laboratory medicine," Clinical Chemistry, 45:324-30, March 1999.

Researchers Feel Threatened by Disease Gene Patents

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