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USPTO Report to Congress Says No Immediate Action Necessary on Confirmatory Genetic Testing

NEW YORK (GenomeWeb) – No immediate action is necessary from Congress on confirmatory genetic diagnostic testing, though some steps should be taken to improve public access to such testing, the US Patent and Trademark Office said in a recent report to legislators. 

In the report the USPTO said that since the US Supreme Court struck down certain patent claims held by Prometheus Laboratories and Myriad Genetics, the patent landscape has dramatically changed and cleared some hurdles that may have prevented patients from getting confirmatory genetic diagnostic testing. Confirmatory testing is additional testing conducted to clarify results from an initial test.

However, the USPTO made recommendations that it believes could further improve access to confirmatory genetic diagnostic testing and improve genetic testing, in general. 

The 35-page report was mandated by federal law enacted in 2011 that changed elements of the US patent system and that included a directive to the USPTO director to evaluate the availability of confirmatory genetic diagnostic testing to patients and the impact of the patent system to such testing.

In particular, the agency was tasked to focus on four issues: the impact of the lack of confirmatory genetic testing on medical care; the impact of such testing on existing patent and license holders of exclusive genetic tests; the impact that genetic tests with exclusive patent rights have on the practice of medicine; and the role of insurers on access to genetic testing. 

To carry out its assignment, the USPTO said that it received comments and testimony from 50 organizations and individuals, including US intellectual property organizations, federal agencies, academic institutions, companies, and others. 

The directive was originally issued four years ago, and since then SCOTUS' rulings in the Prometheus and Myriad cases have rendered moot some of the original questions and concerns that lawmakers had about the impact that patent laws may have had on genetic testing. 

Overall, the USPTO said, "The evidence is unsatisfactory in providing clear findings to Congress. … The evidence associated with genetic diagnostic testing is sparse, and the evidence available on confirmatory genetic testing is even more so." 

For example, on whether the lack of confirmatory genetic testing has compromised the quality of medical care, the report said that there was "sparse" evidence to support concerns that doctors were unable to access confirmatory genetic testing when they felt it was needed for their patients. 

"Where evidence was available, it was often not of the magnitude, quality, or rigor that scientists generally consider reliable in drawing conclusions," the report said. 

The report further said that there is a limited market for confirmatory genetic testing and estimated that only between 1 percent and 5 percent of patients who initially received a genetic test needed another one to confirm the original diagnoses. 

Also, when a genetic test is available from only one provider, USPTO also found that the effect of such limited availability on testing quality to be "ambiguous." 

The agency sought to answer whether confirmatory genetic testing could hurt the businesses of companies that hold the patents to an exclusive genetic test. 

"There was little data on this issue, though it is unlikely that confirmatory testing by a second entity would have a significant negative impact on exclusive licensees," the USPTO said. "Because demand for confirmatory testing is likely to be small relative to the demand for initial testing, the lost profits associated with confirmatory genetic testing conducted by other laboratories would appear not to be a major inconvenience for commercial entities that provide primary testing." 

The USPTO further found that there was little evidence that "the interpretation of reliable test results is affected by patents and exclusive licensing practice." While the agency noted that other research has found patent holders to be aggressive in asserting their IP rights, "[i]t is unclear whether those findings, which related to laboratories engaged in potentially infringing activities by conducting primary genetic diagnostic tests, would apply equally to the provision of confirmatory results." 

Lastly, the report said that it found that insurers generally don't cover confirmatory genetic testing, but while the USPTO did not find "sufficient evidence to recommend changes" to how insurers cover genetic testing, "such coverage should be considered in any discussion of access to confirmatory genetic diagnostic testing." 

The agency made three recommendations to Congress. One is to continue monitoring confirmatory testing for any barriers to access. The USPTO also said that mechanisms need to be created so that different parties can share genetic test results in order to build a robust database of correlations between genetic mutations and disease. Additionally, because insurance coverage plays a significant role in access to testing, Congress should consider the role of cost and insurance coverage in any policies it may set concerning confirmatory genetic testing.