Patenting the Covid-19 vaccine is wrong

The world has recorded at least 166 million cases of Covid-19 and over 3.4 million deaths, according to the Hopkins coronavirus dashboard, and the true numbers are certainly far higher. The only way we will defeat this virus is through vaccines, and fortunately science has delivered the goods, with multiple highly-effective vaccines now being produced. In some countries we are turning the corner: in the U.S. cases have been steadily declining since mid-winter, and are now at their lowest level since last June.

Unfortunately, in many countries the virus is raging unchecked, and vaccines are in very short supply. We won't defeat SARS-CoV-2 until the whole world has adequate supplies of vaccines.

One barrier to wider, more rapid distribution of vaccines is patents. The companies that are making the vaccines have patents on them, which means that no one else can manufacture the vaccines without paying license fees. 

The human species doesn't have time for this nonsense. The profits of a few companies are far, far less important than the lives of millions of people. And yet many governments, including most EU countries, are standing firm behind the patent system. Crudely put, they are defending money over human lives. 

Recently, in a surprising move, President Biden announced support for a "vaccine waiver" that would allow any country to develop vaccines against Covid-19 without licensing the technology from one of the companies that currently holds a patent. The UK is now considering supporting a waiver as well, but other countries in the European Union and the G20 have come out against any waivers. The EU position seems to be that if you can't pay, you can't have the vaccine, even if your own scientists have the expertise to manufacture it themselves.

I've been an outspoken critic of patents for many years, including gene patents (which never should have been allowed in the first place) and software patents (which are frequently filed for trivial ideas and often used primarily to create lawsuits), but patents on the Covid-19 vaccine are objectionable for a different reason: they're unethical. If companies persist in enforcing them, the governments that approved the patents should simply invalidate them.

I know that many people will tell me I'm naive for suggesting this. I have heard their arguments before, many times. These include claims that without the patent system, companies simply won't invest in new inventions, and the public will suffer. These claims are, bluntly put, wrong.

In a famous 1955 interview, Jonas Salk, the inventor of the polio vaccine, was asked by journalist Edward Murrow who owned the patent. 

“Well, the people, I would say," Salk replied. "There is no patent. Could you patent the sun?" 

And yet despite not being patented, the polio vaccine was successfully produced and distributed, and as a result humans have essentially eliminated polio from the world. (It still persists in a handful of countries, due to political and economic reasons as well as vaccine resistance.)

Just a few days ago, epidemiologists Gregg Gonsalves and Gavin Yamey (from Yale and Duke) published a public call for a "people's vaccine," which would require waiving patent rights on Covid-19 vaccines. They point out that vaccine waivers are just one step among several that we need to take, as a species, if humans are going to defeat this pandemic. So if I'm naive, I guess I'm in good company.

Why do we have the patent system at all? When you think about it, the patent system is a government-supported, guaranteed monopoly on a commercial product. The only possible reason for governments to support this is that the citizens of their countries will benefit. The patent system was never designed to guarantee the profits of private corporations and law firms–but of course these groups have profited immensely from patents, and they have created an entire ecosystem to defend the status quo.

But I digress. The Covid-19 pandemic is a worldwide health crisis that surpasses anything we've seen since the 1918 influenza pandemic. Stopping the pandemic, and ending the suffering and death of millions of people, will require getting vaccines into most of the world's population, whether they live in rich countries or poor ones. Patents and the licensing fees that come with them can only slow down this process.

That's why enforcing patent protection on any Covid-19 vaccine is unethical. The companies that are claiming patents could fix this by announcing that they will offer their technology for free to anyone in the world, but we can't expect that to happen. President Biden's announcement that the U.S. supports a patent waiver, and the UK's likely announcement of a similar position in the coming days, are a great move in the right direction. Let's hope that the rest of the world's governments follow suit.

Should we test all women for breast cancer-causing mutations?

In this week’s Journal of the American Medical Association, famed geneticist Mary-Claire King argues that all women over age 30 should be tested for cancer-causing mutations in the BRCA1 and BRCA2 genes. King, who made the original discovery of the link between BRCA1 and breast cancer, is one of the world’s leading experts on how mutations in these genes cause cancer.

But her proposed new universal testing policy, which fellow Forbes contributor David Shaywitz calls “audacious,” goes far beyond what other experts recommend. Earlier this year, the highly regarded U.S. Preventative Services Task Force (USPSTF) recommended testing BRCA genes only in women with a family history of breast or ovarian cancer. 

Although there’s no question that King is an expert on BRCA gene testing, I think she’s gone much too far with her latest proposal. She has the science right, but she is far too optimistic about how her recommendation would actually play out. The policy might save some lives, but it would also cause a great deal of pain.

First, it’s worth explaining why King thinks universal BRCA testing is a good idea. In her JAMA article, King and colleagues describe a new study they conducted in Ashkenazy Jews that showed, somewhat surprisingly, that 

“50% of families found to harbor BRCA1 or BRCA2 mutations had no history of breast or ovarian cancer that would have triggered clinical attention." 

In other words, under current policy guidelines, 50% of people who have a damaging mutation in one of these genes will not have their genes tested. Many of them will eventually get breast or ovarian cancer—as King explains, women with harmful BRCA1 mutations have a 60% risk of cancer by age 60, and for BRCA2 the risk is 33% by age 60. That’s a very high risk, though it’s important to keep in mind that many women with these mutations will never get cancer.

With modern DNA sequencing technology, any large-scale genetic BRCA testing program is likely to uncover thousands of mutations that have no harmful effects, and thousands more whose effects are simply unknown. (Aside: each BRCA gene spans about 80-90 thousand nucleotides of DNA, and each of those letters can mutate in 4 ways, changing into one of the other 3 bases or just being deleted. This means there are at least 400,000 mutations possible in each gene, not counting larger deletions. A colleague and I published an article in 2010 describing one such BRCA test.) King is clearly aware that such reporting these mutations to patients would only sow confusion, and she recommends that:

“Testing for BRCA1 and BRCA2 should focus solely on unambiguously loss-of-function mutations with definitive effect on cancer risk…. A VUS [variant of unknown significance] can increase confusion and compromise clinical management; for population-based screening, these variants should not be reported.”

Herein lies one of the biggest problems with King’s idea. We don’t have universal agreement on which mutations have no significance, and even if we did, most physicians are not experts on cancer genetics. In our lawsuit-prone medical culture, there exists an unfortunate tendency to over-treat and over-report everything. 

Thus I fear that if we had wider BRCA testing, clinical labs would report all mutations back to physicians (how could they not?), and physicians in turn would report everything to the patients. The result would be that millions of women would be told "you have a mutation in BRCA1, and we don't know what it means." What's a patient supposed to do with that?

The other problem is that the only treatment to prevent breast and ovarian cancer is surgery to remove a woman’s breasts and ovaries. We don’t have a pill you can take, or lifestyle changes you can adopt, that will dramatically reduce your risk of hereditary cancer. But unlike a cancer diagnosis, the discovery of a BRCA mutation does not mean you have cancer. It simply means you have a risk, possibly a high risk, of getting cancer at a young age. We know from decades of research that people are not very good at evaluating risk. We tend to over-estimate the danger of events that seem very dramatic or visible to us, as cancer is to many people. 

By King’s own estimates, widespread BRCA testing would detect cancer-causing mutations in 250,000 to 415,000 women in the U.S. This estimate assumes the test doesn’t have false positives, which it almost certainly would. All of these women would then be faced with an extremely difficult dilemma: should they have both their breasts removed, or live the rest of their lives in fear of breast cancer? 

This dilemma was famously on display last year, when actress Angelina Jolie revealed in a New York Times article that she’d had a double mastectomy, after discovering that she carried high-risk BRCA mutations. Jolie’s mother died from cancer at the age of 56, and she explained in her article that as a result of the surgery, “ I can tell my children that they don’t need to fear they will lose me to breast cancer.”

King’s proposal is audacious, and it’s well worth debating. But without a better treatment option, telling hundreds of thousands of women that they have a high risk of breast and ovarian cancer carries a potentially enormous cost, both physical and emotional, for these women. Rather than putting huge numbers of women under the surgeon’s knife, we should instead double or triple our investments in research on treatments that may eventually make surgery unnecessary. 

Can you patent a fraudulent stem cell method? Yes!

Woo-Suk Hwang talks to reporters after
fraud is revealed. Photo: Reuters.

At first I thought the Patent Office was having a little fun. Was it an April Fools Day joke?  No, it's only February - and the U.S. Patent Office never kids around.

What did they do? They issued a patent to Korean scientist Woo-Suk Hwang for a method to create human embryonic stem cells by cloning.  The problem is, Hwang's "invention" was one of the most famous frauds of the past decade. His publications in 2004 and in 2005, in the journal Science, are labelled in bright red letters as retracted, and Science wrote its own separate notice explaining

"the authors of two papers published in Science (2, 3) have engaged in research misconduct and that the papers contain fabricated data."

Hwang's apparent triumph, becoming the first scientist to create human embryonic stem cells in the lab, made him a national hero in South Korea, for a short time.  He was soon appointed the director of a new stem cell research center. But things quickly unraveled beginning in November 2005, when Hwang's co-author Gerald Schatten, a stem cell researcher at the University of Pittsburgh, announced that he was ending his collaboration with Hwang over ethical concerns. By January, Hwang admitted to publishing fake data, but blamed his junior colleagues. Hwang was fired from Seoul National University (SNU) in 2007 and later convicted of bioethical violations and embezzlement. The official investigation by SNU found that Hwang's laboratory

"does not possess patient-specific stem cell lines or any scientific basis for claiming to have created one."

So you wouldn't think this would be approved for a patent, no?  Is the patent office paying any attention at all?  As reported by Andrew Pollack at the New York Times, the patent office does indeed know Hwang's history, and the patent is 

"definitely not an assertion by the U.S. government that everything he is claiming is accurate."

Well, I must say I'm relieved to hear that. Hwang himself admitted the data were fake! As I've written previously, the USPTO simply can't keep up with biotechnology, and the courts don't do any better. In this case, it's hard to imagine a more obvious example of a patent that should be denied: the papers were retracted, and the lead scientist lost his job after his own university concluded that the data was fabricated. And yet the patent office is standing by their decision. What are they thinking?

Did you scan and email a document recently? You might owe $1000 to a patent troll.

We've seen how badly the U.S. patent system is broken when it comes to gene patents.  The recent U.S. Supreme Court case overturning Myriad Genetics' patents on the human breast cancer genes, BRCA1 and BRCA2, was a step in the right direction.  But the problem goes much deeper than that.  The U.S. Patent and Trade Office (USPTO) simply can't keep up with technology, and as a result its lawyers keep granting patents that they just don't understand.  As a result, completely obvious ideas end up as patents, inhibiting innovation and keeping beneficial technology out of the hands of the public.  This is just the opposite of what the patent system is supposed to do.

It's not only gene patents that confuse the USPTO.  They also fail miserably when it comes to computer technology.  Some years ago, they issued a patent for scanning in a document and emailing it.  This idea is so obvious that it probably was "invented" by thousands of people back in the early days of scanners, and most of them probably didn't think to patent it.  But one guy did, and now his patent is owned by a patent troll: a company that doesn't make anything, but threatens to sue everyone in sight to extort money from them.

And now we have a law firm that is going around demanding $1000 in licensing fees from everyone who scans a document and then emails it.  ArsTechnica wrote about this back in April, and again in May when HP decided to fight back, pointing out that HP was selling printers that could scan and email documents before the patent in question was granted.

But that's kind of not the point, is it?  The USPTO should never have granted this patent, which was just for the idea of scanning and emailing - the inventor didn't build anything, nor did he create some novel technology.  Patenting ideas for computer programs as "business methods," which the patent office started allowing back in the 1990s, opened the floodgates to patent trolls, and we're suffering the consequences today.

And now, surprisingly, two U.S. states are fighting back.  In the past week, Vermont's and then Nebraska's attorneys generals have sent letters telling the patent troll (a company called MPHJ and its lawyers, a firm called Farley Daniels) to leave their citizens alone, as the Washington Post reported this week.  They might win, too, using a new law in Vermont that lets victims of patent trolls sue back.

The problem is that we have a large and powerful industry of patent lawyers who are deeply invested in the current system, and fight tooth and nail against any attempt to change it.  Perhaps the recent egregious over-reaching by some greedy folks, including those who hold patents on human genes, will finally make it clear that the patent system is broken and in desperate need of major reform.

Supreme Court bungles the science in DNA patent decision

[This is slightly modified from my post 2 days ago at Forbes.]

The Supreme Court ruled this week that Myriad Genetics doesn't own your DNA after all.  Myriad holds patents on the BRCA1 and BRCA2 genes, which are linked to an increased risk of breast and ovarian cancer, and they charge exorbitant fees for their DNA diagnostic test of those genes.  As I've written before (such as this 2012 Clinical Pharmacology article), Myriad didn't invent the genes, and the patents should not have been granted.  So in large part the Supreme Court got it right.

But they got the science wrong, as any geneticist reading today's decision will realize immediately. In the very first paragraph, they make no less than three errors of fact.  First, they write:

"The nucleotides that code for amino acids are 'exons,' and those that do not are 'introns.' "

Not correct.  Here's the facts: when making DNA into a protein, the cell copies DNA into RNA.  Big chunks of the RNA are spliced out and discarded.  Those are "introns."  What remains is "exons."  That's it.  The nucleotides that code for amino acids are contained within the exons, but they are not the same thing. It's not unusual for 25% or even 50% of the nucleotides in the exons to be ignored when stringing together amino acids to make a protein.

Error number 2 comes next, when the Court writes:

"They [scientists] can also synthetically create exons-only strands of nucleotides known as composite DNA (cDNA)."

Wrong again.  cDNA stands for complementary DNA, because the DNA produced is the complement of the original strand. This means that each nucleotide is replaced with its complement: A and T are complementary, and C and G are complementary.  The court gets this right later on in the ruling.

Just after this, they write:

"cDNA contains only the exons that occur in DNA, omitting the intervening introns."

Ouch! Wrong again.  cDNA simply means a complementary copy of DNA, which doesn't have anything to do with exons.  If you make a cDNA from a mature messenger RNA transcript, then yes, it will contain only the exons.  But you can make cDNA from other parts of the genome, and from other types of RNA transcripts.

There are more errors further down in the decision. For example, they write that "Nucleotides that do not code for amino acids, in contrast, are known as 'introns.' "  This just compounds one of the errors above.  They also used the term "pre-RNA" instead of the correct term "pre-mRNA."  I could go on.

It's troubling that the highest court in the land can't get even the basic facts of molecular biology right when writing a decision that has such fundamental importance to genetic testing, the biotechnology industry, and health care.  I cannot pretend to know who they got to do their biology background research, but any genetics graduate student could have done far better.

Myriad Genetics CEO Claims He Owns Your DNA

With the Supreme Court about to hear a landmark case on gene patents, Myriad Genetics, the company that owns the patents under scrutiny, is going on the offensive.  I've written about this case before, when the patents were first thrown out by one court, and then restored by another.  Now the Supremes will have the final say.

Just last week, geneticists Jeffrey Rosenfeld and Chris Mason wrote a commentary for the Washington Post that warned about the consequences of companies owning the rights to our gene sequences.

Today, in a letter filled with non sequiturs and distortions, Myriad Genetics' CEO Peter Meldrum, worried about whether his company will be able to maintain their monopoly on a test for which they charge $4000, responded.  Let's look at his claims.

First, though, let me remind readers that the genes in question, BRCA1 and BRCA2, are linked to an increased risk of breast and ovarian cancer, a risk that was first discovered in 1994 by scientists at the University of Utah.  Myriad Genetics owns a patent on these genes, and as I wrote last year:

"Thanks to these patents, you can’t look these genes in your own body without paying a fee to Myriad. Sounds ridiculous, right? Well, that was the state of gene patents until last May [2011], when judge Robert Sweet ruled that the Myriad’s patents were invalid."

Myriad appealed the decision, and the appeals court overturned Judge Sweet, buying into the argument by Myriad's lawyers that "isolated DNA" is not the same as the natural DNA, and that this distinction allows companies to patent it.  This is scientific nonsense for many reasons: for one thing, the process of isolating DNA does not create an artificial molecule. The body's own cells isolate DNA all the time, in the process of turning it into proteins.  But the appeals court accepted the argument, perhaps just because they wanted to uphold the patents.  So now the Supreme Court will re-examine this scientifically ridiculous claim.

Now let's look at CEO Meldrum's letter.  He first claims that Myriad's patents

"were essential to developing diagnostic tools that have been used by more than 1 million women to understand their hereditary risks of breast cancer and ovarian cancer."

This claim is simply false.  Myriad's patents made no contribution at all (and certainly weren't "essential") to the diagnostic tools used to detect mutations.  I know something about these tools, which I've been using in my own research for over 15 years.  Furthermore, academic medical centers were offering their own diagnostic tests on the BRCA genes, at a lower cost than Myriad, until Myriad's lawyers forced them to stop.  So Myriad's patents have increased costs to patients and, if anything, slowed down progress on making the tests faster and cheaper.

Second, Meldrum writes:

"Were these molecules derived in part from natural material? Sure. But that is true of many patents. Labs routinely turn naturally found molecules into innovative medicines and get patent protection."

One's jaw drops at this irrelevant non sequitur.  Myriad has never created "innovative medicine" or any other sort of medicine.  And the BRCA gene tests are not medicine: they are a diagnostic test that reads your DNA and tells you if you have harmful mutations in two specific genes.  Myriad's patents have nothing to do with medicines that treat breast and ovarian cancer - although it's clear that Meldrum would like us to think otherwise.

Third, Meldrum claims:

"Our tests are also accessible; some 95 percent of patients get insurance coverage, and we offer the test for free to those who cannot afford it."

This too is irrelevant, and also untrue.  The fact that 95% of patients have insurance, even if true, has nothing to do with whether or not genes should be patented.  And this merely hides the fact that Myriad's test is outrageously overpriced, at $4000 per patient.  The actual costs of testing for this gene should be far lower: we can now sequence an entire genome for $4000, and this test only looks at 2 genes out of more than 20,000.

Meldrum also throws out the unproven claim that Myriad offers it for free to those who cannot afford it.  Really?  Who decides if someone can afford it? If a woman can scrape together the $4000 with great hardship, does Myriad give her a break on the price?  I doubt it.  And what does this have to do with Myriad's supposed right to own your genes?

Fourth, Meldrum makes the remarkable claim that

"Our patents have also promoted additional research; 18,000 scientists have studied the genes, resulting in 10,000 published papers."  

This is just unfounded bragging.  Even the most wildly successful scientists would be very careful about claiming that that 10,000 papers have been based on their work.  In the case of Myriad, this is just false.  If you do a PubMed search for BRCA1, you can indeed find over 9,600 papers, as I did today.  However, there is no evidence whatsoever that these papers were even remotely supported by Myriad's patents.  It is far more likely that the patents prevented additional research on the BRCA genes.  The vast majority of research on these genes was supported by the public, which in the U.S. means by the National Institutes of Health.  Meldrum's boastful claim is absurd.

It's worth noting that the original paper describing the link between BRCA1 and breast cancer was published by a multi-institutional team from the University of Utah and other places, who were supported by multiple grants from the NIH and from the Canadian government.  Myriad Genetics subsequently licensed the patent rights from Utah, and has used them ever since to maintain its monopoly and prevent others from developing tests on the BRCA genes.  To claim that its patents promote innovation is pure nonsense.

The bottom line is that no one invented your genes, and no private company should be able to tell you that you can't even read your own DNA.  Today, you can get your DNA sequenced for less than the cost of the Myriad test.  Using free software (developed by my lab), you can scan that DNA for mutations in BRCA1 and BRCA2. And no company should be able to tell you not to.

Peter Meldrum's letter reveals that he doesn't care very much about the truth.  Meldrum made $4.87 million in 2011 as CEO of Myriad, so it's pretty clear what motivates him. Myriad's use of its patents to charge exhorbitant prices to women at risk for breast and ovarian cancer does not demonstrate innovation. It just demonstrates greed.

Federal judges decide that private companies own your DNA

Many scientists cheered last year when a federal judge ruled that human genes couldn't be patented. The case involved Myriad Genetics, which holds the patent rights on two genes, BRCA1 and BRCA2, that are associated with increased risks for breast and ovarian cancer. Thanks to these patents, you can't look these genes in your own body without paying a fee to Myriad. Sounds ridiculous, right? Well, that was the state of gene patents until last May, when judge Robert Sweet ruled that the Myriad's patents were invalid.

But now the courts have reversed themselves again. In a 105-page decision, two federal judges decided that the whole matter comes down to the meaning of the word "isolated." I kid you not.

Judge Sweet's ruling last year was based on the obvious scientific fact that genes are a product of nature, not an invention, and therefore they could not be patented. Patent lawyers were very upset over Sweet's ruling. Why was this controversial? Well, because the U.S. Patent and Trade Office has been granting gene patents for decades. Basically, once the USPTO decided to allow one gene patent, they never looked back, and they've now given out patents for over 4,000 human genes.

But this past week, an appeals court reversed last year's ruling and said yes, Myriad Genetics does indeed own the rights to the BRCA genes. The decision by Judge Alan Lourie reveals an astounding lack of understanding of DNA, genes, and genomes. I guess I shouldn't be surprised, but I had been hopeful that after the earlier ruling throwing out these patents, science and logic would prevail. I guess I should never underestimate the scientific ignorance of judges, though I should add that one of the three judges voted against his colleagues.

What was their contorted reasoning? They decided that "isolated DNA" is not the same as the natural DNA in your body, and that this distinction allows companies to patent it. (The word "isolated" occurs 219 times in the decision.) The judges wrote:

"According to Myriad, isolated DNA does not exist in nature, and isolated DNAs, unlike native DNAs, can be used as primers and probes for diagnosing cancer."

The mind boggles. Following this nugget, Judges Lourie and Moore give us a little mini-lesson in molecular biology:

"Native DNA exists in the body as one of forty-six large, contiguous DNA molecules…. Isolated DNA, in contrast, is a free-standing portion of a native DNA molecule, frequently a single gene…. Accordingly, BRCA1 and BRCA2 in their isolated state are not the same molecules as DNA as it exists in the body."

This is scientific nonsense, but the court bought it. (Over at TechDirt.com, Mike Masnick made the colorful analogy that this is like "arguing that because a severed finger is not attached to a hand, the finger is not naturally occurring, and, thus, is patentable.") Wrote the judges:

"we conclude that the challenged claims are drawn to patentable subject matter because the claims cover molecules that are markedly different—have a distinctive chemical identity and nature—from molecules that exist in nature."

Among other problems, Judges Lourie and Moore don't understand a basic fact of genetics: that genes are "isolated" by our body's own genetic machinery when they are copied into RNA and then translated into proteins. Or perhaps they do understand, but they don't care because they just want an excuse to keep gene patents around. This is what can happen when lawyers (judges) make scientific decisions: they go on for pages and pages about the semantics of a word ("isolated"), and produce a result that is scientifically meaningless.

Judge Bryson makes much more sense in his dissent, writing:

"the question in this case is whether an individual can obtain patent rights to a human gene. From a common-sense point of view, most observers would answer, `Of course not. Patents are for inventions. A human gene is not an invention.' The essence of Myriad’s argument in this case is to say that it has not patented a human gene, but something quite different—an isolated human gene."

So that's two judges (Sweet and Bryson) against human gene patents, and two in favor. This case isn't over yet; last week's ruling by the 3-judge panel will likely be appealed to the full appeals court next. It's hard to predict what they will say. Meanwhile, Myriad charges $4000 to run tests on BRCA1 and BRCA2, as I wrote last year. This means that if a woman wants to test her own DNA for any mutations in the BRCA genes - including mutations that weren't even known when Myriad got the patent - she must pay Myriad merely to look at her own genes.


I'm not a lawyer, but I already see one way around Myriad's patents in this flawed decision. The judge's (and Myriad's) reliance on "isolated BRCA genes" refers to the process of isolating and copying the genes using a laboratory method called RT-PCR, and then sequencing just the isolated bits. Today, though, we can sequence a person's entire genome, without "isolating" any particular genes, for under $5000, and then we can test for mutations in the BRCA genes without ever "isolating" them. In fact, a colleague and I published a paper just last year describing how to do this, and we released a free software package that allows anyone to test their BRCA genes at home on a desktop computer. Genomics Law Report has a detailed legal analysis of what our software means for the Myriad case.

Scientifically, it shouldn't matter how the judges define "isolated" DNA. And as two federal judges have now ruled, genes are not inventions, full stop. What's more, gene patents slow down science by throwing legal barriers in the path of anyone who wants to work on those genes. Finally, I'm amazed at the hubris of companies like Myriad - or anyone else - who claim they "own" a gene. Let's hope the full appeals court will reverse the tortured reasoning of Judges Lourie and Moore, and get the patent lawyers out of the laboratory.

U.S. comes down against gene patents

In a surprising move, the U.S. Justice Department filed a brief last Friday that declared, for the first time, that the U.S. government does not support the patenting of naturally occurring human genes. This new position is contained in a document filed as part of the ongoing legal challenge to the gene patents on the human breast cancer genes, BRCA1 and BRCA2.

As background: a company called Myriad Genetics has held the patents on these two genes since the late 1990s. They sell diagnostic tests that cost nearly $4,000, and if a woman wants to test her own DNA for any mutations in the BRCA genes, they are required to pay for this very expensive test. The gene patents prevent any competitors from offering the same test without paying Myriad a license fee. Earlier this year, the ACLU challenged these patents in federal court, and the initial court ruling, which came as a surprise to many, invalidated the patents. Myriad appealed, and it seems likely this will end up in the Supreme Court before it is finally settled.

I have a scientific interest in this case, having just published a paper that directly challenges gene patents by providing free software that allows anyone to test their own DNA for mutations in the BRCA genes. Our software requires that you first have your genome sequenced, which (of course) is not feasible for most people today, but which I think will be routine in the not-too-distant future.

It seems absurd that, having your own DNA in hand (on a flash drive, perhaps), you wouldn’t be allowed to check your own genes for mutations without first paying a license fee to a company. Actually, under current law you might have to pay hundreds of license fees, because thousands of human genes have already been patented.

The same government that issued these patents has finally woken up to this absurdity. In their amicus brief, the Justice Department wrote:

“the unique chain of chemical base pairs that induces a human cell to express a BRCA protein is not a ‘human-made invention.’ Nor is the fact that particular natural mutations in that unique chain increase a woman’s chance of contracting breast or ovarian cancer. Indeed, the relationship between a naturally occurring nucleotide sequence and the molecule it expresses in a human cell – that is, the relationship between genotype and phenotype – is simply a law of nature. The chemical structure of native human genes is a product of nature, and it is no less a product of nature when that structure is ‘isolated’ from its natural environment than are cotton fibers that have been separated from cotton seeds.”

Rarely have I seen such sensible scientific reasoning from lawyers, and I must say it is very refreshing. Just in case the text quoted above is isn’t clear enough, the brief goes on to point out that “the patent laws do not, however, embrace the products and processes of nature itself.” The reason for the bit about “isolated” DNA is that Myriad’s patents cover DNA that has been “isolated” from the cell, and the Justice Department wanted to make it clear that this distinction should not somehow make the DNA patentable.

The legal implications of my own challenge to the BRCA gene patents were discussed at length at Genomics Law Report, and by Forbes blogger Robert Langreth. It will be interesting to see how this latest filing by the Justice Department changes the picture. The implications go far beyond the BRCA gene patents: if the initial court ruling and the Justice Department’s position hold up, then virtually all gene patents, on human genes and on many other species’ genes, will become invalid.

It’s about time. New genes have been the basis of many exciting discoveries, but they are not inventions. No one should have exclusive rights to a gene that occurs naturally in a human, another animal, a plant, or any other living species.