Should you be able to patent a human gene? | Tania Simoncelli

It was an afternoon in the fall of 2005.

I was working at the ACLU as the organization's science advisor.

I really, really loved my job,

but I was having one of those days

where I was feeling just a little bit discouraged.

So I wandered down the hallway to my colleague Chris Hansen's office.

Chris had been at the ACLU for more than 30 years,

so he had deep institutional knowledge and insights.

I explained to Chris that I was feeling a little bit stuck.

I had been investigating a number of issues

at the intersection of science and civil liberties -- super interesting.

But I wanted the ACLU to engage these issues in a much bigger way,

in a way that could really make a difference.

So Chris cut right to the chase, and he says,

"Well, of all the issues you've been looking at, what are the top five?"

"Well, there's genetic discrimination,

and reproductive technologies,

and biobanking, and ...

oh, there's this really cool issue,

functional MRI and using it for lie detection, and ...

oh, and of course, there's gene patents."

"Gene patents?"

"Yes, you know, patents on human genes."

"No!

You're telling me that the US government

has been issuing patents on part of the human body?

That can't be right."

I went back to my office and sent Chris three articles.

And 20 minutes later, he came bursting in my office.

"Oh my god! You're right! Who can we sue?"

(Laughter)

Now Chris is a really brilliant lawyer,

but he knew almost nothing about patent law

and certainly nothing about genetics.

I knew something about genetics, but I wasn't even a lawyer,

let alone a patent lawyer.

So clearly we had a lot to learn before we could file a lawsuit.

First, we needed to understand exactly what was patented

when someone patented a gene.

Gene patents typically contain dozens of claims,

but the most controversial of these are to so-called "isolated DNA" --

namely, a piece of DNA that has been removed from a cell.

Gene patent proponents say,

"See? We didn't patent the gene in your body,

we patented an isolated gene."

And that's true,

but the problem is that any use of the gene requires that it be isolated.

And the patents weren't just to a particular gene that they isolated,

but on every possible version of that gene.

So what does that mean?

That means that you can't give your gene to your doctor

and ask him or her to look at it,

say, to see if it has any mutations,

without permission of the patent holder.

It also means that the patent holder has the right to stop anyone

from using that gene in research or clinical testing.

Allowing patent holders,

often private companies,

to lock up stretches of the human genome was harming patients.

Consider Abigail,

a 10-year-old with long QT syndrome,

a serious heart condition that, if left untreated,

can result in sudden death.

The company that obtained a patent on two genes associated with this condition

developed a test to diagnose the syndrome.

But then they went bankrupt and they never offered it.

So another lab tried to offer the test,

but the company that held the patents threatened to sue the lab

for patent infringement.

So as a result,

for 2 years, no test was available.

During that time,

Abigail died of undiagnosed long QT.

Gene patents clearly were a problem and were harming patients.

But was there a way we could challenge them?

Turns out that the Supreme Court

has made clear through a long line of cases,

that certain things are not patent eligible.

You can't patent products of nature --

the air, the water, minerals, elements of the periodic table.

And you can't patent laws of nature --

the law of gravity, E = mc2.

These things are just too fundamental and must remain free to all

and reserved exclusively to none.

It seemed to us that DNA,

the most fundamental structure of life,

that codes for the production of all of our proteins,

is both a product of nature and a law of nature,

regardless of whether it's in our bodies

or sitting in the bottom of a test tube.

As we delved into this issue,

we traveled all over the country to speak with many different experts --

scientists, medical professionals, lawyers, patent lawyers.

Most of them agreed that we were right as a matter of policy,

and, at least in theory, as a matter of law.

All of them thought

our chances of winning a gene-patent challenge

were about zero.

Why is that?

Well, the patent office had been issuing these patents

for more than 20 years.

There were literally thousands of patents on human genes.

The patent bar was deeply entrenched in the status quo,

the biotech industry had grown up around this practice,

and legislation to ban gene patents had been introduced

year after year in Congress,

and had gone absolutely nowhere.

So the bottom line:

courts just weren't going to be willing to overturn these patents.

Now, neither Chris nor I were the type to shy away from a challenge,

and hearing, "Being right just isn't enough,"

seemed all the more reason to take on this fight.

So we set out to build our case.

Now, patent cases tend to be: Company A sues Company B

over some really narrow, obscure technical issue.

We weren't really interested in that kind of case,

and we thought this case was much bigger than that.

This was about scientific freedom, medical progress,

the rights of patients.

So we decided we were going to develop a case

that was not like your typical patent case --

more like a civil rights case.

We set out to identify a gene-patent holder

that was vigorously enforcing its patents

and then to organize a broad coalition of plaintiffs and experts

that could tell the court

about all the ways that these patents were harming patients and innovation.

We found the prime candidate to sue in Myriad Genetics,

a company that's based in Salt Lake City, Utah.

Myriad held patents on two genes,

the BRCA1 and the BRCA2 genes.

Women with certain mutations along these genes

are considered to be at a significantly increased risk

of developing breast and ovarian cancer.

Myriad had used its patents to maintain

a complete monopoly on BRCA testing in the United States.

It had forced multiple labs that were offering BRCA testing to stop.

It charged a lot of money for its test --

over 3,000 dollars.

It had stopped sharing its clinical data

with the international scientific community.

And perhaps worst of all,

for a period of several years,

Myriad refused to update its test to include additional mutations

that had been identified by a team of researchers in France.

It has been estimated that during that period,

for several years,

as many as 12 percent of women undergoing testing

received the wrong answer --

a negative test result that should have been positive.

This is Kathleen Maxian.

Kathleen's sister Eileen developed breast cancer at age 40

and she was tested by Myriad.

The test was negative.

The family was relieved.

That meant that Eileen's cancer most likely didn't run in the family,

and that other members of her family didn't need to be tested.

But two years later,

Kathleen was diagnosed with advanced-stage ovarian cancer.

It turned out that Kathleen's sister was among the 12 percent

who received a false-negative test result.

Had Eileen received the proper result,

Kathleen would have then been tested,

and her ovarian cancer could have been prevented.

Once we settled on Myriad,

we then had to form a coalition of plaintiffs and experts

that could illuminate these problems.

We ended up with 20 highly committed plaintiffs:

genetic counselors,

geneticists who had received cease and desist letters,

advocacy organizations,

four major scientific organizations that collectively represented

more than 150,000 scientists and medical professionals,

and individual women who either couldn't afford Myriad's test,

or who wanted to obtain a second opinion but could not,

as a result of the patents.

One of the major challenges we had in preparing the case

was figuring out how best to communicate the science.

So in order to argue that what Myriad did was not an invention,

and that isolated BRCA genes were products of nature,

we had to explain a couple of basic concepts, like:

What's a gene? What's DNA?

How is DNA isolated, and why isn't that an invention?

We spent hours and hours with our plaintiffs and experts,

trying to come up with ways of explaining these concepts

simply yet accurately.

And we ended up relying heavily on the use of metaphors,

like gold.

So isolating DNA --

it's like extracting gold from a mountain

or taking it out of a stream bed.

You might be able to patent the process for mining the gold,

but you can't patent the gold itself.

It might've taken a lot of hard work and effort

to dig the gold out of the mountain;

you still can't patent it, it's still gold.

And the gold, once it's extracted,

can clearly be used for all sorts of things

that it couldn't be used for when it was in the mountain;

you can make jewelry out of it for example --

still can't patent the gold, it's still gold.

So now it's 2009, and we're ready to file our case.

We filed in federal court in the Southern District of New York,

and the case was randomly assigned to Judge Robert Sweet.

In March 2010, Judge Sweet issued his opinion --

152 pages --

and a complete victory for our side.

In reading the opinion,

we could not get over how eloquently he described the science in the case.

I mean, our brief -- it was pretty good,

but not this good.

How did he develop such a deep understanding of this issue

in such a short time?

We just could not comprehend how this had happened.

So it turned out,

Judge Sweet's clerk working for him at the time,

was not just a lawyer --

he was a scientist.

He was not just a scientist --

he had a PhD in molecular biology.

(Laughter)

What an incredible stroke of luck!

Myriad then appealed

to the US Court of Appeals for the Federal Circuit.

And here things got really interesting.

First, in a pivotal moment of this case,

the US government switched sides.

So in the district court the government submitted a brief on Myriad's side.

But now in direct opposition to its own patent office,

the US government files a brief that states that is has

reconsidered this issue in light of the district court's opinion,

and has concluded that isolated DNA is not patent eligible.

This was a really big deal,

totally unexpected.

The Court of Appeals for the Federal Circuit

hears all patent cases,

and it has a reputation for being very, very pro-patent.

So even with this remarkable development,

we expected to lose.

And we did.

Sort of.

Ends up split decision, 2 to 1.

But the two judges who ruled against us,

did so for completely different reasons.

The first one, Judge Lourie,

made up his own novel, biological theory --

totally wrong.

(Laughter)

He decided Myriad had created a new chemical --

made absolutely no sense.

Myriad didn't even argue this, so it came out of the blue.

The other, Judge Moore,

said she basically agreed with us that isolated DNA is a product of nature.

But she's like, "I don't want to shake up the biotech industry."

The third, Judge Bryson,

agreed with us.

So now we sought review by the Supreme Court.

And when you petition the Supreme Court,

you have to present a question that you want the Court to answer.

Usually these questions take the form of a super-long paragraph,

like a whole page long with lots and lots of clauses,

"wherein this" and "therefore that."

We submitted perhaps the shortest question presented ever.

Four words:

Are human genes patentable?

Now when Chris first asked me what I thought of these words,

I said, "Well, I don't know.

I think you have to say, 'Is isolated DNA patentable?'"

"Nope.

I want the justices to have the very same reaction that I had

when you brought this issue to me seven years ago."

Well, I certainly couldn't argue with that.

The Supreme Court only hears about one percent

of the cases that it receives,

and it agreed to hear ours.

The day of the oral argument arrives, and it was really, really exciting --

long line of people outside,

people had been standing in line since 2:30 in the morning

to try to get into the courthouse.

Two breast cancer organizations,

Breast Cancer Action and FORCE,

had organized a demonstration on the courthouse steps.

Chris and I sat quietly in the hallway,

moments before he was to walk in and argue

the most important case of his career.

I was clearly more nervous than he was.

But any remaining panic subsided as I walked into the courtroom

and looked around at a sea of friendly faces:

our individual women clients

who had shared their deeply personal stories,

the geneticists who had taken huge chunks of time out of their busy careers

to dedicate themselves to this fight

and representatives from a diverse array

of medical, patient advocacy,

environmental and religious organizations,

who had submitted friend of the court briefs in the case.

Also in the room were three leaders of the Human Genome Project,

including the co-discoverer of DNA himself,

James Watson,

who had submitted a brief to the court,

where he referred to gene patenting as "lunacy."

(Laughter)

The diversity of the communities represented in this room

and the contributions each had made to make this day a reality

spoke volumes to what was at stake.

The argument itself was riveting.

Chris argued brilliantly.

But for me,

the most thrilling aspect was watching the Supreme Court justices grapple

with isolated DNA,

through a series of colorful analogies and feisty exchanges,

very much the same way as our legal team had done

for the past seven years.

Justice Kagan likened isolating DNA

to extracting a medicinal plant from the Amazon.

Justice Roberts distinguished it from carving a baseball bat from a tree.

And in one of my absolutely favorite moments,

Justice Sotomayor proclaimed isolated DNA to be "just nature sitting there."

(Laughter)

We felt pretty confident leaving the courtroom that day,

but I could never have anticipated the outcome:

nine to zero.

"A naturally occurring DNA segment is a product of nature,

and not patent-eligible merely because it has been isolated.

And furthermore,

Myriad did not create anything."

Within 24 hours of the decision,

five labs had announced

that they would begin to offer testing for the BRCA genes.

Some of them promised to offer the tests at a lower price than Myriad's.

Some promised to provide a more comprehensive test

than the one Myriad was offering.

But of course the decision goes far beyond Myriad.

It ends a 25-year practice of allowing patents on human genes

in the United States.

It clears a significant barrier to biomedical discovery and innovation.

And it helps to ensure that patients like Abigail, Kathleen and Eileen

have access to the tests that they need.

A few weeks after the court issued its decision,

I received a small package in the mail.

It was from Bob Cook-Deegan,

a professor at Duke University

and one the very first people Chris and I went to visit

when we started to consider whether to bring this case.

I opened it up to find a small stuffed animal.

(Laughter)

We took a big risk in taking this case.

Part of what gave us the courage to take that risk

was knowing that we were doing the right thing.

The process took nearly eight years from the start to finish,

with many twists and turns along the way.

A little luck certainly helped,

but it was the communities that we bridged,

the alliances that we created,

that made pigs fly.

Thank you.

(Applause)