(a) IN GENERAL.—The Director shall conduct a study on effective ways to provide independent, confirming genetic diagnostic test activity where gene patents and exclusive licensing for primary genetic diagnostic tests exist.
(b) ITEMS INCLUDED IN STUDY.—The study shall include an examination of at least 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.
This mandate grew out of decades of debate over “gene” patenting and its effect on public health and society. In fact, in 2006 the National Academy of Sciences released its report entitled “Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights, Innovation, and Public Health. In that report, thirteen recommendations were made, some of which were highly debated during their drafting (e.g. contentious). The last one, however, reached broad consensus:
Recommendation 13: Owners of patents that control access to genomic- or proteomic-based diagnostic tests should establish procedures that provide for independent verification of test results. Congress should consider whether it is in the interest of the public’s health to create an exemption to patent infringement liability to deal with situations where patent owners decline to allow independent verification of their tests.
In response (in part) to this recommendation, Kathleen Sebelius, then Secretary of Health and Human Services, requested the Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) to look at the issue of genetic diagnostic testing and make recommendations. The SACGHS transmitted this report on March 31, 2010 with the following advisory provided by its Chair, Steven Teutsch:
SACGHS found that patents on genetic discoveries do not appear to be necessary for either basic genetic research or the development of available genetic tests. The Committee also found that patents have been used to narrow or clear the market of existing tests, thereby limiting, rather than promoting availability of testing. . . . SACGHS also found that when there is a patent-enforcing sole provider, patients cannot obtain independent second-opinion testing, and sample sharing as a means of ensuring the quality of testing is not possible.
This author, an ad hoc member of the SACGHS at the time, disagreed with the findings, methodology, and conclusions of the committee and issued a minority report to the committee. My findings included that:
the Report is ill-conceived and fatally flawed to such an extent that it serves no purpose. Further, the suggestions contained in the Report are inconsistent with the evidence obtained, redundant to other IP management efforts, and fail to identify any endemic problems or issues.
The USPTO considered the SACGHS report and also found flaws in the study though admittedly, they were more polite in their characterization. The USPTO Report states that “the limited evidence uncovered in the extensive fact gathering performed by the SACGHS” was not sufficient to support a conclusion of systemic harm because of “difficulty of evidence-gathering.” The Leahy-Smith Act, enacted about a year after the SACGHS Report was issued, included a requirement for the USPTO to consider the matter further. To that end, the USPTO engaged in fact finding “(t)hrough Federal Register notices and public hearings and roundtable, . . . received testimony and written comments from fifty organizations and individuals,” and eventually issued their report.
Section 27 of the Leahy-Smith Act was introduced in the Manager’s Amendment to H.R. 1249 (112th Cong.) where it was characterized as follows:
This study is intended to provide unbiased, reliable, and empirical information about the existing availability of independent confirmatory genetic diagnostic testing services, as well as patient demand for such testing services, in situations where genetic diagnostic tests are indeed patented and exclusively licensed. Nothing in this section shall be construed as undermining existing patent law in this regard.
The USPTO fulfilled this mandate admirably. Their observations include the following points:
- Patent and licensing practice may impact confirmatory testing availability.
- It is difficult to draw conclusions about the need for confirmatory testing.
- The altered legal landscape following, e.g., Mayo and Myriad and others may have rendered many of the issues raised moot.
The USPTO did make an interesting observation that has been reflected in its patent examining guidelines. The USPTO Report concludes that “it is 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.” This statement reinforces the USPTO’s prior broad interpretations of the Court’s findings in Mayo and Myriad.
Of note is that in the USPTO Report, the USPTO adopts the Supreme Court’s factually and scientifically unsupported distinction between genomic DNA and cDNA. Here, the USPTO Report states that the “relevant difference” between the two embodiments of DNA is the presence of introns (non-coding regions). This is quite unfortunate because it perpetuates a myth. Genomic DNA is a label for the nucleic acid found in the nucleus of a cell while a cDNA is a laboratory made reflection of mRNA used to make proteins. Belaboring this point has been ineffective, but the apparent use of a factually incorrect presumption in making patent examination policy is disappointing. This author simply expects better from the legal experts at the USPTO.
The USPTO is, however, cautious in their report. They specifically note that “(w)hile the evidentiary record associated with genetic testing tends to be light, the record available on confirmatory genetic testing is even more so. . . . Much of the evidence was anecdotal and, what is worse, contradictory.”
Much of the public patent debate has focused, appropriately, on exclusivity and the effect of granting limited monopolies to genetic tests. Again, the USPTO has admirably characterized that “there was mixed evidence about the effect that being an exclusive provider has on the quality and accuracy of diagnostic tests.” Thus, they found no evidence that exclusivity has led to public health issues.
The USPTO Report did consider, in passing, the data that results from laboratory testing. Unfortunately the USPTO Report, while suggesting that data should be made broadly available, did not go far enough. In this regard, consider the report’s observation regarding data gathering and that data consolidation can provide more accurate test results.
Yes, data from a single provider can help them do a better job. On the other hand, data that is closely held (and secreted) by single or multiple providers limits everyone’s ability to extrapolate. The conclusion that having data made available to as many people as possible is one of the finest points of the USPTO Report. Again, however, the USPTO Report stops short and misses an opportunity to encourage policy makers to act.
The difficulty with a single company holding data is (in part) that it also holds the keys to future innovation. This is good for that company but bad for the public. One of the keys to the IP system is the quid pro quo. Inventors must share their enabling disclosure and descriptions in exchange for their patents. Mayo and Myriad are resulting in what seems to be massive patent invalidation in broad swatches of the diagnostic testing and nucleic acids technologies. What choice do genetic innovators have but to keep their data as closely held trade secrets? This does the public little good and only exacerbates the problem.
I urge caution here. My recommendation would not be to limit patenting, just the opposite. The Supreme Court findings in Mayo and Myriad have caused a massive shift in the IP landscape. This contraction of patent subject matter eligibility is targeted at a single industry and is based on fundamentally flawed science and emotional reactions to perceived problems that don’t exist. Here, the USPTO and their chief policy advisor (the Under Secretary) had an opportunity to encourage Congress to take up the matter. They did not, even though they had the attention and ear of both the Senate and House Committees on the Judiciary; the very bodies that could directly address (and help overturn) the Supreme Court’s misplaced activism.
It is understood that the USPTO Report was issued three years late, in part because the courts were actively considering related issues. It is wondered how much of the delay was caused by political considerations of the effect that the USPTO Report would have on industry and public opinion. Alas, it is unlikely that the public will ever benefit from the last four years of internal USPTO deliberations. Had the USPTO Report been issued earlier, perhaps a dialogue could have been established and ways forward worked into the current round of patent reform legislation. As it stands, the timing of the report has precluded such remedy.
Looking to the future, better timing is encouraged. Mayo and Myriad were decisions made in 2012 and 2013. What would the Supreme’s have done if they had had the USPTO Report in hand when they were deciding these cases? After all, the USPTO is, in essence, concluding that they did not find any harm to confirmatory testing (or, in fact any testing) being under the purview of patents. The report could have affected judges’ and the public’s opinions. The USPTO could have chosen to lead rather than react.
An intriguing aside is the timing of the USPTO Report’s release, just a day prior to the end of a fiscal year (albeit 38 months late) when the Congress is busy considering the FY2016 budget and the House is looking for a new Speaker. It is unlikely that time will be found in this session of Congress to fairly consider the profound findings in the report. The USPTO will be able to report a FY2015 deliverable, but at what expense?
The USPTO is an administrative agency and, as such, is tasked with administering law, not making it. This is understood. Nonetheless, it is also staffed by some of the finest IP minds in the world. Leveraging these assets by taking affirmative stances could only benefit policy, law, and decision-making. The USPTO is led by an Undersecretary of Commerce for Intellectual Property who “advise(s) the President . . . on intellectual property policy issues.” This is a leadership role whose importance should not be underestimated.
In summary, the USPTO’s cautious findings are simple.
- Congress should continue to monitor genetic testing issues.
- Ways for sharing data should be encouraged.
- Market issues including insurance and reimbursement effects should be explored.
These are simple, common sense recommendations and the USPTO has done an admirable job in navigating an emotionally charged legal arena. They can and should do more.
 USPTO, USPTO Report on Confirmatory Genetic Diagnostic Testing, (Sept. 28, 2015) (hereinafter USPTO Report)
 Leahy-Smith America Invents Act, Pub. L. No, 112-29, 125 Stat. 284 (2011)
 Nat’l Res. Council, Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights, Innovation, and Public Health (Stephen A. Merril and Anne-Marie Mazza, eds) (2006) (hereinafter NRC Report).
 NRC Report at 149.
 Letter from Steven Teutsch, Chair, Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) to Kathleen Sebelius, Secretary, Department of Health and Human Services (DHHS) (March 31, 2010) (published within DHHS, Report of the Secretary’s Advisory Committee on Genetics, Health, and Society, Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests (Apr.2010)
 See Letter from Brian R. Stanton to SACGHS (October 8, 2009) (hereinafter Minority Report).
 Minority Report.
 USPTO Report at 15.
 Id. at 2.
 157 Cong. Rec. E1183 (daily ed. June 23, 2011) (remarks of Mr. Leahy).
 USPTO Report at 3.
 Id. at 3.
 Mayo Collaborative Sevices v. Promethius Laboratories, Inc., 132 U.S. 1289 (2012).
 Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 133 U.S. 2107 (2013).
 Memorandum from Andrew H. Hirshfeld, Deputy Commission for Patent Examining Policy, on 2014 Procedure for Subject Matter Eligibility Analysis of Claims Reciting or Involving Laws of Nature/Natural Principles, Natural Phenomena, and/or Natural Produts (Mar. 4, 2014).
 USPTO Report at 4.
 It is acknowledged that when used in a molecular biologist’s vernacular, mammalian genomic DNA contains noncoding information. Nonetheless, when isolated from a cell it is altered in both form and capacity.
 USPTO Report at 14.
 Id. at 16.
 Id. at paragraph bridging pages 16/17.
 35 U.S.C. §2(b)(8).