The Supreme Court recently heard oral arguments and examined one of the most pivotal cases in healthcare and personalized medicine: AMP v. Myriad Genetics. The case will determine if patents on human genes should be allowed, and the Court is expected to issue a decision next month. This case is important because Myriad genetics holds patents for the breast cancer associated genes (BRCA1 and BRCA2), and only they can legally examine these fragments of DNA from your body. The Association of Molecular Pathologists (AMP), geneticists, doctors, patients, and researchers have challenged Myriad's patents, due to their exclusivity and the documented threat to clinical and basic research.
But these patents are just the tip of the iceberg; there are over 40,000 others like them on genes or DNA held by other companies other organizations. These patents prevent you, or your doctor, from looking at your own DNA. In the case of Myriad and some others, they claim not only modified DNA, but also that they have invented the BRCA molecules that are hiding in your body. The big problem is that your body is in the way of their molecules.
Why Does This Matter?
Importantly, these gene patents do, in some cases, literally threaten the health of patients. This is not an abstract, academic dispute; patients can literally die while waiting for their genetic testing results. If you have breast cancer, then waiting weeks for a BRCA test is dangerous while the cancer grows worse every day. Worse yet, these genetic tests could be readily be done, in only a day, at your local hospital or medical college.
In a more striking example, if you walk into to any large hospital's hematology and oncology ward, you can quickly find a hallway of leukemia patients in "blast crisis" whose own bone marrow is quickly killing them. Left untreated, these patients may only have weeks before their cancer would kill them; therefore, rapid response is paramount. Yet, the very first thing almost every patient must do is wait for three to seven days (or longer if over a weekend) for a test on another patented gene (FLT3) that will determine their best course of treatment. There is no medical reason to delay genetic testing and put patients at risk; only legal.
If the hindrance of these patents was removed, we could perform the genetic testing, and more expansive genetic testing, within the same day at our hospitals. This requisite speed in clinical settings could likely prolong lives, save lives and improve treatments. Also, in an era of personalized medicine, these delays will impact physician's capacity to determine and offer the best treatment regimen tailored to individual patient's genomes.
Details of the Patents
Due to the 13th amendment and other legal precedents, Myriad cannot legally own your body, so, of course, they don't claim to do so. But, they do claim to own a few pieces of your body. Specifically, as soon as you, or your doctor, isolate the BRCA1 or BRCA2 gene from your body, it is immediately the exclusive property of Myriad Genetics. Also, due to the purposely vague language used in their patents and the repetitive nature of the human genome, Myriad also holds exclusive rights to ~700 other genes in your body. This vagueness of gene patents is also true for thousands of other genes, and, depending on how the patents are viewed, as much as 100 percent of all your genes. Although the exact interpretation of many of these patents and their meaning have been widely debated in patent blogs, the scientific literature, and by IP lawyers, it is, without question black-letter law today that Myriad genetics owns any isolated BRCA1 and BRCA2 gene from every person, both alive and dead.
Yet, the strangeness does not end there. These patents from Myriad do not only claim a single molecule, as is usually done in a patent, but they go further and claim any "isolated DNA having at least 15 nucleotides" of their sequence for BRCA1, as well as the full-length version of any BRCA1 isolated molecule. The implications for this are striking:15mer problems:
- As discussed above, this purposely vague language means that Myriad unequivocally holds claims to another ~700 genes, if you keep the same order of the nucleotides, because there are almost 700 other genes that have 15-nucleotide sequences that are the same as 15-nucleotide sequences in BRCA1 and BRCA2.
- If you include any 15 nucleotides form their patent, in any order, one could interpret this to mean that Myriad holds claims over all genes in your genome. This is a fair critique because the patents do not require the 15-nucleotide sequence to be in the same order as in BRCA 1 and BRCA2 for it to be infringing their patent.
- This would be the equivalent of getting a copyright on the word "the" and claiming that any book in the library with the word "the" is something you have written, or, indeed, any word with the letters "t". "h" and "e" regardless of order.
- If Myriad had only patented one molecule, maybe it would not be as much of an issue, since normal human genetic variation means that no person on Earth will likely have the exact same sequence as the one that has been patented.
- But, due to the amount of human variation in genes, Myriad claimed in its patents any remotely similar version of the genes, with as little as 55-60 percent similarity.
- Myriad claimed in the Supreme Court that the "the decision of where to begin the gene and where to end the gene" was made by them, and that it was "not given by nature." This staggeringly preposterous hubris is wrong for at least two reasons:
- Evolution had more of a role in deciding where to put these genes in the human genome than Myriad.
- There is no Platonic form of a "gene." It is an abstract idea of a locus on a chromosome where a version of a gene exists in the genome, which is different in every person on Earth (except identical twins, and even then, it will slowly change over time).
What Happened in the Supreme Court
While listening to the oral arguments in the courtroom, it became clear that the Justices desperately wanted to find a good analogy to describe the case. But in every case, whether the analogy was for a baseball bat from wood, a leaf from a tree, gold in a mountain, kidney from a body, or aspirin, none of them were directly applicable. In all analogies proposed, you are still allowed to look at the "invention," whereas Myriad's "invention" prevents any citizen or doctor from looking at his or her own DNA for hundreds or thousands of genes. The purpose of the patent system is to "promote the progress of science and the arts" by allowing people to examine what you have invented. But, in the case of many DNA patents, this overarching concern (and reality) is that the broad language of these patents cover an abstract idea of a gene, rather than a specific physical molecule.
The Justices of the Supreme Court seemed to side with this concern. In particular, there may be at least the required five votes in favor of rejecting these patents on DNA and overturning the Court of Appeals decision (which was itself split 2 judges to 1) that upheld Myriad's patents:
Five in Favor of Rejecting Gene Patents
(1) Justice Kennedy stated to counsel for the patent challengers, "It may be that the law allows you to prevail on the fact that this is ... occurs in nature and there's nothing new here."
(2) Justice Sotomayor, stated that DNA "in isolation it has no value. It's just nature sitting there." Also, she stated, "I always thought that to have a patent you had to take something and add to what nature does. So how do you add to nature when all you are doing is copying its sequence?"
She also agreed with our published concerns about the 15 nucleotide non-uniqueness, wondering "whether this claim is too expansive because it's claiming every 15 nucleotides and nature produces 15 randomly."
(3) Chief Justice Roberts expressed concerns about the non-obviousness of short DNA fragments as well, stating "I don't understand how a small part of something bigger isn't obvious." He later seemed to think that isolated DNA was not inventive, stating, "You don't have to invent the particular segment of the [gene] -- of the strand; you just have to cut it off."
(4) Justice Kagan indicated the same, stating that isolated DNA is the same once purified, like an isolated plant in a forest. She observed, "the plant in the forest can't be used for any purpose either. It only has a use when it's taken out -- you know, when it's uprooted and taken out of the forest. But it's still the same thing."
(5) Justice Breyer commented on the balance of inventor protection and public good, but came out on the side that DNA was too fundamental. He noted that "the patent law is filled with uneasy compromises... the compromise that has been built historically into this area is:
- Of course, if you get a new satisfying process to extract the sap from the plant in the Amazon, patented.
- Of course, if you get the sap out and you find that you can use it, you manipulate it, you use it, you figure out a way to use it to treat cancer, wonderful, patented.
- But what you can't patent is the sap itself."
Later, he then stated, "we are reducing, then, 101 (referring to novelty) to anything under the sun, and -- and that, it seems to me, we've rejected more often than we've followed it."
Two Justices in favor of keeping gene patents
Conversely, two Justices indicated they may want to uphold the patents.
Specifically, Justice Scalia expressed concern about the absence of patent protection, stating, "Why would a company incur massive investment if it -- if it cannot patent?"
Also, Justice Alito seemed to be in favor of keeping patent protection, stating "we have claims that if patent eligibility is denied here it will prevent investments that are necessary for the development of new drugs or it will lead those who develop the new drugs, new diagnostic techniques, to keep those secret, not disclose them to the public."
There was also an interesting moment where the Judicial branch of our government chastised the Executive Branch, where Justice Alito said, "the government has changed its position; isn't that correct? ... It seems that there is disagreement within the Executive Branch."
Two with unclear vote
Justice Ginsberg noted that "isolating or extracting natural products ... has long been considered patentable" such as aspirin and whooping cough vaccine that started with natural products. She wondered aloud, "How is this different?" However, other language seemed to indicate that she may reject the patents, stating that the disagreement within the Executive Branch about the patents' eligibility "dilutes the strength of the presumption" that these are OK for patents.
Justice Thomas did not speak during the proceedings, which is common, but he usually votes with Scalia.
Both as a geneticist and as a citizen, I hope the Supreme Court rejects these overly broad patents and defends our individual and collective genetic freedom. Upholding these patents perpetuates a terrifying loss of genomic liberty that should held sacrosanct for every person, which includes:
- The right to look at your DNA
- The right to have your doctor look at your DNA
- The right to modify your DNA once purified from your body
- The right to examine your genes
- The right to interpret your DNA
As an example, I recently bought some friends a very personal birthday present - a gift certificate for a "Personal Genotyping Workshop" at the community laboratory in Brooklyn calledGenspace. In this course, each person used a simple reaction to examine their own DNA and look for mutations in their genetic code (in the CCR5 gene) within just a few hours but simply swabbing their cheek and doing basic molecular biology. However, if we had chosen the BRCA gene or thousands like them, we would have suddenly infringed these DNA patents. Thus, instead of holding a copy of our own DNA in our hands, these patents tell us that we have instead made something that is the property of a company -- even though it was literally taken from our own mouths hours earlier.
Fortunately, there is an emerging movement to challenge these preposterous, over-reaching monopolies. Many cancer researchers and clinicians, including important work by Heidi Rehm and Robert Nussbaum, have created ClinVar and sharingclinicalreports.com, where data is being collected and shared from people's right to access and share their own clinical data. This is the future of genetic freedom and liberty that hopefully comes to fruition. I look forward to the day when I can examine any piece of my DNA, and I hope the Supreme Court creates a world where this is possible.