In 1996, a year after the then 26-year-old genetic counselor Ellen Matloff moved to Connecticut to launch the Yale Cancer Genetic Counseling program, a patent for the newly sequenced BRCA 2 genetic variant had just been filed.
A couple of years later, when the patent holder cracked down on who could test for these variants, creating a monopoly on genetic testing, Matloff was launched into a nearly two-decade-long fight to preserve access to testing for hereditary cancer syndromes.
Matloff, now the CEO and co-founder of genetic counseling provider My Gene Counsel, sat down with The Peak to revisit the historic Supreme Court case, give an overview of the evolution of genetic testing in the 11 years since the win, and share how genetic testing can make a difference when faced with a cancer diagnosis.
This interview has been edited for clarity and length.
THE PEAK (TP): How did you come to hear about the patenting of the BRCA 1 and 2 genetic variants?
ELLEN MATLOFF (EM): When I came to Connecticut at age 26 to start the Cancer Genetic Counseling program at Yale School of Medicine, we didn’t have genetic testing for BRCA1 and 2. Those genes had been discovered but testing wasn’t clinically available.
When it became available, it was amazing. We could take a small blood sample from a patient’s arm and learn if they carried a mutation in either of these two major genes and then really help to change their lives and change the lives of their family members.
After we’d been doing it for a couple of years, our laboratory got a letter telling them that those two genes—human genes—were patented and that all testing must cease and desist, not only at our lab but all over the world. I was shocked because I didn’t know you could patent a human gene.
TP: How did you decide to get involved in the case?
EM: I found that the people in a position of power said, “I’m not getting involved in a lawsuit. I don’t want to get involved in a mess. Let’s just send it to the laboratory that has the patents.”
The laboratory raised the price of the testing overnight from the $1,600 we were charging to $2,200. Even though the cost of the technology kept going down, down, down as genetic testing got better and better, they kept raising, raising, raising their prices.
I was having a hard time getting my patients covered for this test that they really needed and insurance companies were clamping down as the cost of the testing went up.
I wanted to fight about it. I wanted to talk about it. I wanted to lecture about it. I was a no-name. I was writing letters to medical journals, trying to get someone to pay attention. Not only were they not paying attention, but I was making a lot of enemies and getting some nasty notes back from some of the journal editors telling me that it was preposterous to not have gene patenting, that that’s what innovation is all about: being able to make money off of an invention.
But this wasn’t an invention. This was patenting the human genes: BRCA1 and 2.
I continued with my efforts, even as my own national society told me that if I continued to talk about it in our online forum, that I would be asked to leave the society because the company who owned those patents was the biggest employer of genetic counselors in the world at that time.
I made a lot of enemies but luckily I don’t mind enemies.
I kept going and kept writing. Then a friend of mine, Kate, told me that there was a bioethics professor who felt the same way about the gene patents. I wrote to him and said, “I’ve been trying to get a manuscript published, would you be willing to be a co-author and to read it and give me your thoughts?” He made a few very smart edits and said let me see if I can get it published. It ended up on the cover of the American Journal of Bioethics.
A few years later, when the ACLU was looking for plaintiffs in the lawsuit [against Myriad Genetics, the patent holder], they found me and asked me to be a plaintiff. It was then I learned that getting involved in a lawsuit of this magnitude presents quite a bit of risk to the plaintiff, as well as your institution.
Yale’s General Counsel and attorneys were very, very kind to me but told me that they thought it would be impossible for me to both be a plaintiff in this lawsuit and to continue in my role as the Director of Cancer Genetic Counseling at Yale.
I had a moment and I blurted out, “Would you fire me?”
They were kind enough to get me my own attorney pro bono and he helped work out a deal that Ellen Matloff from Branford, Connecticut could be a plaintiff as long as I never mentioned Yale.
The case went on—it went up, up, up—it went to the Supreme Court, and in June of 2013, we learned that in a unanimous ruling that human gene patents for [the purpose of genetic testing] had been abolished.
TP: How did you keep going despite being repeatedly faced with barriers and resistance?
EM: When I considered being a part of this lawsuit, I checked with some of my closest advisors and everyone told me that the risk was too great for me, personally, to be sued by the company, to go bankrupt because I couldn’t hire as many attorneys as they could, and that I should drop out of the lawsuit.
But during this period in the lawsuit, I decided to become a mom on my own. I have a daughter, who at the time was a little girl, and the thing that kept me going was that I knew that I would never be able to explain to her why I dropped out and why I didn’t do something that I knew would be so important for so many other people in the world. I would never be able to explain that to her as a mom.
And now she’s 14—and she’s very sassy—but she knows that I was involved in this lawsuit and that I stood up for the things that matter to us. It was worth it.
TP: Collaboration played a key role in your fight to protect the BRCA 1 and 2 gene variants. How did you approach that?
EM: One of the things I’ve learned is that if you reach out to someone who you think is really powerful and they don’t reply to you or they say, “No, thank you,” you have lost nothing. Most of the people I’ve reached out to about a variety of things over time have not replied to me, but I don’t care. I will keep asking.
When people reach out to me, as they often do, I try to write them back as often as I can. I can’t always do the things they’re asking me to do, but I sure do try.
Reach out to that person who seems too famous, too powerful, too high up. Do it. What do you have to lose?
TP: How did your role as a genetic counselor come into play during the lawsuit?
EM: Being a genetic counselor, working with thousands and thousands of families, [I saw] what happened when people couldn’t afford genetic testing or when they couldn’t afford all of the genetic testing [they needed].
That’s because this company had a patent but they only looked at … BRCA 1 and 2. There are other [genetic variants] called large deletions and rearrangements that they weren’t looking at and wouldn’t allow us to look at. They wouldn’t even let us look at the families who tested BRCA 1 and 2 negative but were highly suggestive [of something else] because of their personal and family histories. When they did offer the testing, it was $700 extra out of pocket.
I watched so many patients walk out of my office without that extra testing who needed that extra testing.
I was able to make this part of my Supreme Court case. I was able to show harm on behalf of my patients and their families.
TP: What changes have you seen in genetic testing or counseling in the time since the case?
EM: Ahead of the Supreme Court ruling—which we were favored to lose—I was asked by a lot of reporters what would happen if you won at the Supreme Court, which really seemed more like a dream.
I said that within three months of that ruling, the cost of testing would be cut in half, that we would test not only for BRCA 1 and 2, but for dozens of other genes, and that testing would be better. It would include the large rearrangements and deletions.
That was my prediction three months from the ruling, but it happened five hours later. It happened the same day [because] all of these laboratories were working in the background to get their products up and running just in case we won the case.
We’ve seen research surge in this period of time. We’ve seen new testing methods—DNA but also RNA—be added to the mix.
People who were against this lawsuit said, “It’s going to stifle innovation.”
It has not stifled innovation at all. Innovation has thrived in this period of time. It’s been huge changes and there are more ahead of us.
TP: And the resolution of the Supreme Court case coincided with Angelina Jolie sharing her story as a BRCA 1 carrier.
EM: Just a few months before the Supreme Court case, the actress Angelina Jolie shared her story in a New York Times editorial.
Suddenly our phones were ringing off the hook because it made genetic testing a household term instead of something just done in a research study that no one had ever heard of. And it wasn’t just for breast and ovarian cancer. We saw people coming in for colon cancer and uterine cancer.
To have that, followed by the Supreme Court case, was just a win-win. There was a tsunami of people coming in, wanting testing, wanting genetic counseling. That’s one of the things that led me to create my company to scale genetic counseling and testing so that it’s not only the wealthy and the white who have genetic testing and counseling information but that it’s accessible to anyone diagnosed with cancer or with a family history of cancer.
TP: Why is this information so critical for someone to have, even without a cancer diagnosis?
EM: Having started in genetic counseling before some of these genes were available, [we used to sit down with patients and] I would take their family history by hand, on paper, in something we call a pedigree. Based on their family history, we would say, “It appears that in your family this is hereditary, and based on your placement in the family, we think your chance to carry the gene is 25 percent.”
That’s all we had and people would be making unbelievably big decisions—Should I have my breasts removed preventatively? Should I have my ovaries removed preventatively?—not even knowing if they carried a mutation, but just based on that family history and what we sketched out to be their risks.
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With testing available, we had some concrete data not only about [whether] you carry a mutation but what those risks are for you and for your family members.
Now we have precision medicines [that tell us] if you carry a mutation and you have certain kinds of cancers, there are a handful of drugs that might work better for you. That’s where we’re moving in the future.
