Myriad's critics say the patent allowed the company to slow its focus on developing new or more comprehensive tests as well as maintain high prices on its tests because it does not have to compete with other laboratories.
“It's ironic that on the cusp of personalized medicine, where doctors can use an individual's genomics to customize treatment, that we see Myriad as blocking access to an individual's genetic information,” said Karuna Jaggar, executive director of Breast Cancer Action, one of the plaintiffs.
Myriad owns or has the exclusive rights to 24 patents used in its BRACAnalysis test, which generated 82% of the $496 million in revenue it reported in 2012, according to the company's year-end financial filings.
“We invest heavily in the research and development that is needed to discover and provide high-quality molecular diagnostic products that save and improve patients' lives,” said Richard Marsh, Myriad's executive vice president and general counsel, in an April 11 statement. “Strong intellectual property and patent rights in the United States are critical to fulfilling our mission.”
While the arguments will revolve around arcane questions of patent law, the ultimate decision will have huge implications for healthcare providers and could reach into the pocketbooks of millions of Americans who need the tests in the coming decades. There are a growing number of diagnostic tests linked to drugs that target specific gene mutations and their future affordability could hinge on the outcome of the case.
“Whether the patents are upheld or are rejected, both instances will have very dramatic impacts on personalized medicine, on gene diagnostic testing and on applications of new technologies for genetic testing,” said Christopher Mason, assistant professor of physiology and biophysics and computational genomics in computational biomedicine at Weill Cornell Medical College.
For now, most insurers have opted to cover the Myriad test, which costs $3,340, a price point that has doubled in the past 15 years. However, a supplemental test was developed by Myriad to identify additional mutations and launched in 2006 at the urging of the breast cancer research community, according to Jaggar. The cost of that test is $700 and is covered by most insurance plans, a Myriad spokesman said in an e-mail.
Jaggar charged that Myriad has used its patents to block new research into alternative and more comprehensive tests and frustrated researchers who want to conduct additional research on the genes. “Twenty years ago, when the human BRCA genes were identified, it was really heralded as a breakthrough moment, and we have not seen the progress on breast cancer that we need to see,” Jaggar said. “Myriad's patent gives them a monopoly, so they can sell what is now an outdated test for an extremely high price.”
Owners of other patented genes have chosen not to enforce their patents, which has created competitive markets for laboratories that conduct these tests. Even though the gene for Huntington's disease is patented, for instance, patients who have the symptoms of the disease can take a single genetic test that costs between $300 and $500 to learn whether they carry the gene for the rare genetic disease. Because there is no patent enforcement, there are at least 50 laboratories in the U.S. offering to test for the gene, which is the likely reason for its relatively low cost.
On the other hand, Athena Diagnostics, which was acquired by Quest Diagnostics in 2011 for $740 million in cash, holds the patent or has exclusive rights to most of the commonly occurring gene variants for spinocerebellar ataxia, a rare set of disorders. The Quest SCA test ranges in cost from $400 to $2,335, according to a 2011 study.
“Where exclusivity does not prevail, as in the cases of CF, Huntington disease, hereditary nonpolyposis colorectal cancer and myriad others, a thriving market appears in which laboratories—both public and private—compete on the basis of service and quality,” the HHS Advisory Committee on Genetics, Health, and Society said in a 2010 report. “Indeed, it is when patents are used in the diagnostic arena to limit access and suppress free market conditions that the problems documented in this report arise.”
Breast cancer patient advocate Jaggar and some clinicians say that they would expect the cost of BRCA1 and 2 testing to drop to several hundred dollars if other laboratories were conducting the tests, in part by pushing Myriad to reduce the costs of its test to remain competitive. “As Myriad faced competition, where it once doubled (the price) of its test, it would be forced to improve its test and it would be forced to study some of the mutations that it doesn't currently provide information on,” Jaggar said.
Clinicians also say that more competition among laboratories would have led to the earlier arrival of the supplemental test, the development of a more comprehensive test and the option for a patient to seek out a second opinion, such as instances when a patient may have to undergo prophylactic surgery.
“Competition is good because it means the laboratories compete on the basis of service, turnaround time and the quality of the report,” said Dr. Robert Nussbaum, chief of medical genetics at UCSF Medical Center in San Francisco. “I don't have that option for BRCA1 and 2 and that, I think, interferes with patient care.”
Providers and patient advocates are also concerned about the data that Myriad has collected from the 250,000 BRCA gene tests that it conducts each year. Limiting access to the company's database of gene variants has restricted research, Nussbaum said.
“We've been very limited in our ability to explore the spectrum of changes in these genes that cause disease because we actually don't know what all those variants are,” he added. “They're locked up in the Myriad database.”
Nussbaum founded the Sharing Clinical Reports Project last year in response to Myriad's restrictions on providing access to the data.
The project aims to gather information on BRCA1 and BRCA2 variants from clinics that ordered the tests for patients and then incorporate them into a broader database established by the National Center for Biotechnology Information. The information does not include information that can identify a patient.
Myriad stopped sharing variant information with another database called the Breast Cancer Information Core in 2006, a point of concern for clinicians and advocates. While the NCBI project has gathered nearly 2,000 variants over the past eight months, the database, dubbed ClinVar, contains only 1% of the data that Myriad has collected over the years, Nussbaum said.
“We have a long way to go, but my ultimate goal is to have patient reports repopulate ClinVar with BRCA1 and 2 variants and essentially replicate what they have and make their database no longer such a unique resource,” he said. “That's my plan.”
Researchers worry that gene patents limit research into whole genome sequencing, which then restricts the development of new treatments or tests for a broader number of diseases or conditions. “The ability to do whole genome sequencing, to take a wide swath of the human genome and to look for variants of clinical importance, is limited by gene patents,” Nussbaum said. “If the patents were dropped, it would accelerate the development of whole genome strategies for clinical purposes.”
Follow Jaimy Lee on Twitter: @MHjlee
