The monopolization of fundamental scientific information and tools prior to the Myriad decision stymied innovation growth in the health diagnostics space.
Ten years ago, an unlikely group promoted innovation in the field of genomic medicine. They did not have medical degrees or toil endlessly in research laboratories — they sat as judges on the Supreme Court. In the Association for Molecular Pathology v. Myriad Genetics case, the court ruled 9-0 that human genes were products of nature, not intellectual property, and that exclusive patent rights over genes should never be granted to anyone.
Since that ruling, authored by Justice Clarence Thomas, much has changed in the world of medicine and biotechnology because of the groundbreaking case. All of humanity is better for it.
The case revolved around patent rights granted to a company, Myriad Genetics, over the BRCA1 and BRCA2 genes. Mutations in these genes are associated with hereditary breast and ovarian cancer, a condition linked to an 80 percent increased risk of breast cancer and 50 percent higher risk of ovarian cancer (as well as a lesser risk of other cancers, such as prostate cancer, pancreatic cancer, and melanoma). These patents granted the company exclusive rights to clinical testing of the BRCA1 and BRCA2 genes and thus essentially corporate ownership of the associated diseases.
Myriad shut down genetic testing performed by other laboratories, even when the testing methods were significantly different than the tests the company offered. Patients had no access to “second opinion” confirmatory testing, and this led to harm. A 2006 study found that approximately 12 percent of people with breast cancer who had severe family histories of cancer but tested negative for BRCA1 and BRCA2 alterations using Myriad’s testing strategy were found by other testing methodologies to carry a large genomic deletion or duplication in one of these genes.
The monopolization of fundamental scientific information and tools prior to the 2013 Myriad decision stymied innovation growth in the health diagnostics space. In 2001, a survey of 122 clinical laboratory professionals performing genetic testing demonstrated that most felt the patent environment was negatively affecting the cost, access and development of genetic tests. A 2010 study by the Department of Health and Human Services recognized the burden associated with negotiating numerous licenses, calling out how the cost of these endeavors could render a clinically valuable test unworthy of financial investment.
Pathologists, clinical laboratory scientists and patients objected to this state of affairs. The lawsuit brought against Myriad by pathologists and laboratory organizations was taken the full distance and won at the Supreme Court. “A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated,” the opinion said. The results have reverberated ever since.
In our post-Myriad world, we are fortunate that clinical laboratories are no longer restricted by the existence of gene patents when developing and employing diagnostic tests. This has directly led to ongoing development and increasing availability of comprehensive genomic tests for carrier screening and cancer profiling. Whole exome and genome sequencing, which evaluates a large number of genes or the full genome, is an important option for pediatric genetic testing for rare diseases. This approach is crucial as the gene or genes involved in an individual disease process are often not obvious or known. In cancer treatment, multi-gene analysis has quickly become the standard of care. The percentage of clinical trials incorporating biomarkers has risen from 18 percent in 2000 to 61 percent in 2019. This important work has led to the availability of 286 targeted therapies for patients in 2020, more than three times as many as were available in 2012.
These advances were only made possible because information about thousands of genes, and the role of various segments of genetic sequences in human health and disease, can be incorporated into a single test. Prior to the Supreme Court’s Myriad decision (and other cases like it), these advances would be inconceivable, as laboratories would have been required to obtain licenses for every gene patent that existed or exclude potentially clinically relevant genes from the analysis.
Imagine if the genetic sequence for SARS-CoV-2 had been patented, and if laboratories were forced to pay fees to develop these critical tests. Although the nation’s response to the pandemic was not perfect, the broad availability of effective diagnostic was thanks to freedom of information. In January 2020, scientists made the full sequence of the virus’s genome available to the public, allowing clinical laboratories to develop innovative tests for Covid-19. Under the current patent framework — where natural phenomena, rules of nature and abstract concepts are judicially exempted from patent eligibility — pathologists and laboratories were able to directly develop and deploy tests to meet the capacity needs in communities across America. At the height of the pandemic, millions received tests as laboratories ran several different platforms testing for the disease every day.
While we are thankful for the decisions of the past, we cannot be complacent. Interest groups in Washington have renewed efforts to legislatively overturn judicial precedent and resume issuing patents over natural phenomena like the data encoded in genes. A strong coalition of pathologists, scientists and organizations like the ACLU continue to repel efforts to regress patent law to a pre-Myriad state by so-called “pro-patent-reform” groups.
Allowing commercial entities to patent genes or other natural phenomena through simple isolation or minimal alteration is dangerous to the public welfare. We know there would be a sudden deceleration in health-science advances, as this was the state of affairs before. Genomic testing costs would rise, and access to lifesaving tests would be diminished. We do not need more roadblocks to the development of effective tests when the next public health emergency arises.
We celebrate a decade of innovation since the 2013 Myriad decision. Leaps in knowledge have been made, but our enthusiasm is tempered by the large gaps in knowledge that remain unfilled, and the ongoing need to remain vigilant against the so-called pro-patent reform groups — lest our hard-gained freedoms and protections are taken away.
Dr. Emily Volk is President of the College of American Pathologists.
