Patent-Mediated Standards in Genetic Testing

Genetic testing can be used to identify disease susceptibility, establish diagnostic status, and design therapeutic regimens in medical care. Two legal realities shape the genetic testing environment in the United States. First, most genetic tests are not subject to premarket review by the Food and Drug Administration (FDA). Second, many DNA sequences and genetic testing methods are patented. The lack of FDA oversight of most genetic testing has consequences for patent-related aspects of genetic testing, and patent management, conversely, has consequences for the peer evaluation that compensates for minimal official oversight. Where exclusive control of the relevant patent portfolio for a particular disease field is used to frustrate a competitive genetic testing environment, the patent holder is able to set de facto clinical testing standards, rather than the professional community. The clinical standard then becomes a function of the marketplace, rather than the laboratory. Restrictive management of gene patents with critical diagnostic significance limits peer assessment, and lessens the available testing options for patients. If the sole commercial provider of a particular genetic test does not offer a comprehensive genetic analysis, the test will not provide the most accurate assessment of genetic status, and compensatory genetic testing to correct deficiencies may be prohibited by the patent holder. The actual genetic testing field will then be defined by a divergence between the theoretically optimal and the commercially available. An artificially constrained genetic testing climate can result in patients receiving inaccurate test results that cannot be relied on for medical decision-making. This scenario describes the current status of commercial genetic testing for the BRCA1 and BRCA2 genes to determine the risk of hereditary breast and ovarian cancer, and similar circumstances could develop in other genetic testing fields. There are potential patent infringement conflicts that could arise if compensatory genetic testing is offered to patients that are underserved by the patent-mediated limitations in genetic tests. The Article identifies doctrinal strategies in patent law to address scenarios where patent management poses risks to public health. It analyzes the prospects for compensatory genetic testing in view of the scope of dominant patents, the infringement evaluation, and the remedies determination, noting that future oversight of genetic testing by the FDA might also allow researchers to invoke a statutory research exemption to improve peer assessment. From the perspective of public health, it is necessary to consider all of these available mechanisms to relieve the patent-imposed obstacles to full exploitation of genetic testing for predictive, diagnostic, and therapeutic applications in medical care.