Ruling likely to make genetic testing more affordable

Ethical questions arise from Supreme Court decision

Despite the Supreme Court’s June 2013 ruling that DNA is a product of nature and not patent-eligible, "the debate over intellectual property claims in genetic testing is not over," says Amy L. McGuire, JD, PhD, Leon Jaworski professor of biomedical ethics and director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine in Houston, TX.

Companies are still free, under the Myriad ruling, to patent complementary DNA.1 "Although the Supreme Court raised the bar for patents for diagnostic methods in Mayo v. Prometheus, it remains uncertain whether methods claims will be upheld more broadly," says McGuire. Since the Supreme Court ruling, Myriad has filed a lawsuit against Ambry Genetics and Gene by Gene for patent infringement. The two companies have counter-sued Myriad, alleging antitrust violations for continuing to enforce patents that are invalid and maintaining a proprietary database of pathogenic gene variants.

"The Myriad case should make room for more competition in the genetic testing industry, thereby lowering prices and making genetic tests more accessible to larger segments of the population," says McGuire. "This would be a positive advance in the field of genetics."

However, until these residual intellectual property issues are resolved, companies may be reluctant to enter the market, and the benefits of the Myriad case will not be fully realized, says McGuire.

Laura Lyman Rodriguez, PhD, director of the Division of Policy, Communications, and Education at the National Institutes of Health’s National Human Genome Research Institute, says the Court’s decision has important ethical implications.

"This was a very significant decision," she says. "It was very important for the basic human genome sequence to be in the public domain and, therefore, available for everyone to use. Whether for research developments or to inform therapeutic developments, the maximum public benefit can be achieved."

The hope is that clinical sequencing of genomes can be integrated as a tool in the care of individual patients. "It will be very helpful to ensure that the fruits of the human genome project can really be brought to bear for the benefit of all patients, so roadblocks won’t be put up," says Rodriguez.

If whole genome sequencing wasn’t possible because parts of the sequence were blocked due to patents, it would be too expensive to perform routinely in clinics and would be more likely to be available only to wealthy individuals, says Rodriguez. "This helps to ensure the basic information is out there for all."

The Supreme Court’s June decision was not a foregone conclusion, says Rodriguez, noting that the federal circuit court that heard the original appeals found twice that the patents were valid. "The Supreme Court had looked at [the case] in June 2012. Rather than making a decision, they asked the federal circuit to look at it again based on the Mayo v. Prometheus decision, and they confirmed their prior findings," she says. Ultimately, the Supreme Court agreed with the Friend of the Court brief that the Department of Justice filed, stating that naturally occurring gene sequencing was not patentable.

As for the question of how whole genome sequencing can be used clinically, Rodriguez says "there is a lot of debate about drawing those lines, on whether we can use it at this point to make informed medical decisions or actually develop targeted therapies," she says. Another issue on the horizon involves test interpretation, as some results are meaningless, some mean that a patient’s risk of disease goes up to a greater or lesser extent, and some are definitive. "One of the things we are concerned about is who owns the databases, and the knowledge about all the individual variants that are necessary for clinicians and laboratories to actually interpret the test," says Rodriguez.

Another unanswered question is whether test information should be in the public domain so that everyone can learn from it. "That gets to the question of whether everyone can have better quality care, by virtue of every physician being able to look at the comprehensive set of information about different genetic sequences, and determining what those might mean for their patients," says Rodriguez.

Reference

1. Association for Molecular Pathology v. Myriad Genetics, 569 U.S. 12-398(2013).

SOURCES

• Amy L. McGuire, JD, PhD, Leon Jaworski Professor of Biomedical Ethics/Director, Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX. Phone: (713) 798-2029. E-mail:
  amcguire@bcm.edu.
• Laura Lyman Rodriguez, PhD, Director, Division of Policy, Communications, and Education, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD. Phone: (301) 594-7185. E-mail: rodrigla@mail.nih.gov.