In 2013, the U.S. Supreme Court ruled in favor of innovation when it struck down a patent that gave one company a stranglehold on genetic testing for a common breast cancer gene. Congress appears to be planning to undo that ruling, a move that would stifle scientific discovery and innovation and harm millions of Americans who need to understand their risks for hereditary cancer and other diseases.
Changes to the Patent Act proposed by Senators Chris Coons (D-Del.) and Thom Tillis (R-N.C.) along with Representatives Doug Collins (R-Ga.), Hank Johnson (D-Ga.) and Steve Stivers (R-Ohio) would upend the patent system as it relates to genetic testing. While Coons has stated the proposal would not allow individual genes to be patented, the current draft is not clear on this point. The proposal, as written, would allow human genes and naturally occurring associations between diseases to be patented. These changes would create a chilling effect on research and hurt patients by increasing the cost of genetic testing and eliminating access to confirmatory genetic testing.
Take the example of BRCA1 and BRCA2, a pair of genes linked to breast cancer. For years, most women who could benefit from knowing their genetic risk for hereditary breast cancer due to a mutation in the BRCA genes couldn’t do so. The costs for testing were astronomical, insurance covered only a limited number of high-risk individuals, and the demands of multiple in-person appointments were overly burdensome for all but the privileged few. Nearly 30 years after the discovery of the BRCA1 gene, more than 80% of American women carrying a mutation still remain unaware of their risk and are thus precluded from taking preventive actions that could save their lives.
Understanding whether you have a genetic risk for a hereditary condition can be the difference between life and death. Women who carry certain mutations in the BRCA genes can face a nearly 80% lifetime risk of breast cancer and a 50% risk of ovarian cancer. Knowing this risk enables women to take preventive action or diagnose a disease at an earlier and more treatable stage.
In the last five years, huge strides have been made in increasing access to this information. Today, for less than $250, a physician can order a clinical grade genetic test online, a woman can take it at home, she can arrange a genetic counseling session on the phone, and receive her results in a matter of weeks. Genomics and data-driven health care are becoming part of routine care and helping us shift from treating late stage disease to prevention.
One of the obstacles that had prevented lower costs and increased access to BRCA testing was that one company, Myriad Genetics, held a monopolistic patent on BRCA testing. Despite advances in scientific research, the rapidly declining costs of genetic sequencing, and innovative approaches to receiving and taking tests, the patent enabled the company to hold hostage potentially lifesaving information. In a unanimous decision, the Supreme Court rescinded the patent, making clear that “a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated.” The court further said that finding the location of BRCA genes “does not render the BRCA genes ‘new . . . composition[s] of matter’ that are patent eligible.”
In the years since that decision, innovation and competition in the area of genetic testing have flourished. My company, Color, for example, started with a mission to make it easy and inexpensive to deliver quality clinical information about genetic cancer risk to large populations. By taking advantage of the decreasing cost of sequencing, developing unique software to increase efficiency without sacrificing clinical quality, and designing easier and better engagement with patients, we lowered the standard cost of genetic testing by an order of magnitude, motivating those who once held such patents to follow in a race to benefit patients.
Our company and others have learned that when you make this information affordable and accessible you empower people to take control of their health, to be in a better place to prevent or identify disease earlier, to help families who have lost loved ones too soon, and to advance scientific research. Such advances have resulted in the community being able to contemplate population-level access to precision medicine, as evidenced by major health systems offering testing as part of routine clinical care and a National Academy of Medicine working group putting forward “A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults.”
The draft changes to the Patent Act seek to erase this progress by changing our common understanding that you can’t patent a test that is an observation rather than an invention. It also obliterates the Supreme Court precedent that “no …. judicially created exceptions to subject matter eligibility, including ‘abstract ideas,’ ‘laws of nature,’ or ‘natural phenomena,’ shall be used to determine patent eligibility.”
Our patent system works when it supports innovation, protects novel invention, and promotes competition. The current draft legislation would do the opposite. Most troubling, it would rob countless people of the opportunity to manage their genetic risk of cancer and other diseases.
We have made tremendous progress in how people are able to access information about their health. Now is not the time to go backwards.
Othman Laraki is the CEO of Color, a California-based data-driven health care company.
The logic that allowed Myriad to patent the BRCA1 and 2 genes would have allowed Sir Humphry Davy to patent the element sodium, which did not exist free in nature.
The inaccuracies and misunderstanding of the scope of patent claims in this article are staggering. The controversy before the Court was whether Myriad had a right in the isolated purified cDNA pertaining to BRCA1 or 2 not to the diagnostic method. The diagnostic was patentable and there is no controversy whether Myriad should have exclusivity with regards to the diagnostic. If another company invented an assay using another sequence that differed form Myriads they would have a competing product. The issue was whether Myriad could have patent exclusivity on the cDNA sequence per se and the Court ruled that they could not. This does not stifle innovation.
It’s highly probable that Color (the author’s company) would not exist if the patent system, and the incentives in creates to design around others’ patents, hadn’t incentivized investment in genetics and gene sequencing. While counterfactuals are always speculative, what would US biotechnology look like if a decision like Myriad had come in 1970? Even if scientific research uncovered genetic markers, who would have invested in development of a regulated diagnostic? The decision in Myriad overturned settled law, perhaps at a time when it didn’t matter as much, though I will not be surprised to see other nations surpass the US in molecular diagnostic technologies. And the decision didn’t affect research one iota; even if a patent technically covers scientific research, no one enforces it. In this case the scientific literature confirms that lots of people studied BRCA1 and 2.
With a government citing the bible, and denying scientific evidence. Patenting genes is perfectly fitting with the dumber & dumber attitude. And corporations interests being the only thing that matter.