October 31, 2015

PTO Issues AIA-Mandated Report on Genetic Testing and Gene Patents

In the debates over the legitimacy of gene patents, one of the central concerns over the impact of gene patenting was whether patients could access second-opinion (confirmatory) genetic testing of positive test results. This circumstance was most acutely illustrated in the BRCA1 and BRCA2 breast cancer gene testing field, where the patents on these genes were held by Myriad Genetics, Inc.. Unlike some other gene patent holders, Myriad did not license other genetic testing laboratories to offer commcercial clinical testing, with the result that almost all BRCA1/2 genetic tests in the U.S. were performed by Myriad. Of relevance here, this meant that patients lacked opportunities for independent assessment of test results that indicated the presence of a mutation in either gene which significantly increased risk of developing breast and/or ovarian cancer. As is well-known now, the Myriad patents were invalidated in the landmark case of Association for Molecular Pathology v. Myriad Genetics in 2013. However, several years earlier, as part of the America Invents Act of 2011 (AIA), Congress instructed the U.S. Patent and Trademark Office (PTO) to conduct a study on the impact of gene patents on the availability of confirmatory genetic diagnosis. The AIA required the PTO to assess the following:
(1) The impact that the current lack of independent second opinion testing has had on the ability to provide the highest level of medical care to patients and recipients of genetic diagnostic testing, and on inhibiting innovation to existing testing and diagnoses.
(2) The effect that providing independent second opinion genetic diagnostic testing would have on the existing patent and license holders of an exclusive genetic test. 
(3) The impact that current exclusive licensing and patents on genetic testing activity has on the practice of medicine, including but not limited to: the interpretation of testing results and performance of testing procedures. 
(4) The role that cost and insurance coverage have on access to and provision of genetic diagnostic tests.
Although behind schedule, the PTO report has now issued. No doubt, assessing the climate of genetic testing against a backdrop of gene patenting has been significantly altered by AMP v. Myriad; it could be argued that the PTO’s report is somewhat obsolete now. However, the agency acknowledges the changes in the field since 2011, and simply advances some modest conclusions and recommendations about the availability of genetic testing in general. From the report:
Although the evidence on each of these points was limited in its scope and mixed in its implications, recent Supreme Court decisions make it unlikely that exclusive provision of a diagnostic test, whether for an original diagnosis or to confirm the original result, will be possible based on patenting and licensing behavior. Patients seeking independent confirmation of diagnostic results will almost certainly be able to find it as long as the demand level for the test (or research interest in the particular gene or condition) supports a market for multiple test providers. For this reason, much of the USPTO’s factual findings may now be superseded by intervening judicial decisions. In view of the altered legal landscape, the USPTO’s recommendations to Congress are limited in scope. 
The first recommendation is to proceed cautiously, monitoring changes in the actual availability of gene-based diagnostic tests from multiple providers. The second recommendation is to consider creating mechanisms to facilitate sharing data on diagnostic correlations in order to build robust databases of the relationships between genetic mutations and the presence, absence, or likelihood of acquiring the relevant medical condition. Data sharing of this kind would promote the most rapid advances in the diagnostic accuracy  of individual tests. The third recommendation is to consider the role of cost and insurance. However, because the USPTO does not have the institutional expertise to make specific recommendations regarding insurance coverage for gene-related diagnostic tests, this report can only emphasize that insurance coverage does appear to play significant a role in access to testing and should be taken into consideration when issues of access are examined. 
It was always a jurisdictional stretch to require the PTO to undertake this kind of analysis; the fact that such a mandate emerged from the AIA illustrates the high level of controversy over the validity of gene patents, an issue that was unresolved at the time of the law’s enactment. The PTO in general is not charged with considering the impact of patenting on market access or health care. However, its observations on the need for data-sharing of genetic correlations to clinical findings is on target. With respect to the BRCA1 and BRCA2 genetic mutations correlated with increased cancer risk, one of the consequences of the Myriad dominance of the testing market through its patents was that the company maintained the repository of most test results for these genes (important gene mutations), and was under no obligation to share them. Loss of its gene patents did not alter the fact that it had established significant genetic databases of clinically relevant mutations in the breast cancer genes. However, resistance to the establishment of proprietary genetic databases of critical genetic mutations has emerged through such initiatives such as Free the Data, and later, with the international genetic data-sharing efforts underway through the Global Alliance for Genomics and Health. Notably, the federally-funded ClinVar was established in 2013, which is an open-access public database of clinically relevant genetic data. However, the PTO report is correct in identifying this phenomenon as a determinant of whether patients are able to receive state of the art interpretations of mutational significance as the basis for medical decision-making. Furthermore, issues of cost and insurance access remain as determinants for consumers, and the patent structure of a genetic testing market will affect cost, but - apart from the notice in this PTO report - ongoing evaluations of patent validity in biotechnology do not consider such issues directly; they are collateral to decisions that are made with reference to the strictures of patent law. However, this report does sketch out an accurate field-wide portrayal of the access determinants that are indirectly influenced by patent rights.

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