Impact

Evidence is increasing that gene patents have a detrimental impact on health care and research. ¹ Gene patent holders often use their exclusive control over genetic material to charge excessive fees for diagnostic testing of medical patients and to prevent other researchers from utilizing the specific genetic sequence for further research.

Increasingly, the appropriate treatment of an individual patient may include diagnostic genetic testing. Most predictive genetic tests offer only the general estimated chances of developing a particular disease and must take into account the influence of other genes and environmental factors. ² For example, the predictive power of the test for BRCA breast cancer mutations is very low for women without a family history of breast cancer, meaning that many women who test positive for a BRCA1 mutation do not ever manifest symptoms of the disease. ³

In addition to the generally low predictive value of predictive genetic testing for the general population, many tests fail to detect specific mutations. The Myriad Genetics test for BRCA1 and BRCA2 mutations, for example, reportedly fails to detect between 10-20% of expected mutations. ⁴ The failure to detect such a large percentage of mutations seriously jeopardizes the test quality and also significantly falls short of appropriate patient care when alternative, more effective tests, could be readily available to the patient. However, because gene patent claims often cover all diagnostics based on the genetic sequence, patentees can prevent the marketing and use of tests derived by other research institutions that are more effective.

Allowing for-profit corporations to exclusively supply genetic testing for hereditary diseases dissociates actual testing from genetic counseling, high-risk patient care, and follow-up, all of which are essential to many national approaches to medical care. In European countries, for example, healthcare workers follow a model that integrates biological research, clinical investigation, and patient care, especially considering the psychological aspects of diagnosis, both for the individual patient and the patient's family. In contrast, many gene patent holders are accused of separating genetic testing from patient care in providing diagnostic test results without any significant follow-up individualized genetic counseling. Such dissociation seriously impedes the quality of patient care.

One commercial aspect of diagnostic gene patents is that doctors must either obtain a license to provide such a test or else charge the patient a fee for sending a sample to be tested at the corporation or research institution that holds the patent. In many situations, this fee can be exorbitant. As an alternative to utilizing a patented procedure that may cost the patient, the insurance company, managed care organization, or the government a significant amount of money, the doctor may even choose to perform an inferior procedure, perhaps resulting in inaccurate results or even failure to screen for the specific disease.

Furthermore, there is concern that the monopoly over genetic testing will inevitably lead to a loss of expertise and information among researchers and physicians. This arises from the fact that researchers and physicians are most often completely barred from using any gene or protein sequence claimed within the patent and thus prevented from undertaking or improving diagnostic technology relating to that particular gene. The complete bar to use may have a deleterious effect on innovation and future research and ultimately result in an intellectual standstill. Because researchers and physicians are barred from the use of the patented gene itself, no improvements to the inaccuracies of the current testing mechanisms will be discovered.

Research and diagnosis has undoubtedly been hindered in the U.S. by exclusivity of genetic material essential to human disease detection. In the United States , 35% of geneticists report that even the sharing of basic data and research material has substantially decreased in the last decade, and 21% claim that failure to access such data from another researcher has resulted in their abandonment of a promising line of research. ⁵ A survey of 200 genetic-testing laboratories found that twenty-five percent of the laboratories have been prevented from offering a test due to the enforcement of a patent or license. In addition, approximately fifty percent reported that they did not attempt to develop new tests due to commercial constraints brought on by a patent. ⁶

For example, beginning in 1998, SmithKline Beecham Clinical Laboratories sent letters to labs ordering them to stop performing or developing tests for the hemochromatosis (HFE) gene. The patent holder was asking for an up-front fee of $25,000 from academic laboratories and as much as $250,000 from commercial laboratories, plus a fee of $20 per test. As a result of SmithKline's letter, 30% of labs discontinued testing and/or ceased development of HFE testing services. ⁷ The patent interfered with clinical adoption of the test and potentially compromised the quality of testing by limiting the development of higher quality or lower cost alternative testing methods.

Research collaboration is being stifled as well. A 2002 study found that forty-seven percent of geneticists surveyed had been denied requests from other faculty members for information, data, or materials regarding published research. When geneticists were asked why they intentionally withheld data, more than twenty percent listed the need to protect the commercial value of their results. Even more troubling is the finding that twenty-eight percent of geneticists surveyed reported that they were unable to duplicate published research because other academic scientists refused to share information, data, or materials. ⁸ This goes to the heart of science – which is supposed to involve hypothesis-testing and replication.

¹ See Jon F. Merz, Antigone G. Kriss, Debra G. B. Leonard, and Mildred K. Cho, Diagnostic Testing Fails the Test , 415 Nature 577, 577-79 (2002); David Blumenthal et al., University-Industry Research Relationships in Biotechnology , 232 Sci. 1361, 1362 (1986) ; David Blumenthal et al., Withholding Research Results in Academic Life Sciences , 277 JAMA 1224, 1224 (1997); David Blumenthal et al, Data Withholding in Academic Genetics , 287 JAMA 473, 477 (2002).

² Michael J. Malinowski & Robin J.R. Blatt, Commercialization of Genetic Testing Services: The FDA, Market Forces, and Biological Tarot Cards, 71 Tul. L. Rev . 1211 (1997).

³ Wylie Burke, Genetic Testing , 347 New Eng. J. Med. 1867, 1872 (2002).

⁴ D. Stoppa-Lyonnet et al., Identification Of A Large Rearrangement Of The BRCA1 Gene Using Colour Bar Code On Combed DNA In An American Breast/Ovarian Cancer Family Previously Studied By Direct Sequencing , 38 J.Med.Gen . 388-391 (2001).

⁵ David Blumenthal et al., Data Withholding in Academic Genetics , 287 JAMA 473, 473, 478 (2002).

⁶ M.K. Cho, Preparing For the Millennium: Laboratory Medicine in the 21st Century , 47-58 (AACC Press, 2d ed. 1998).

⁷ Jon F. Merz et al., Diagnostic Testing Fails the Test , 415 Nature 577, 577-578 (2002).

⁸ David Blumenthal et al., Data Withholding in Academic Genetics , 287 JAMA 473, 473, 477-478 (2002).