More than 20 years ago, geneticist Mary-Claire King discovered BRCA1 – the first known gene with mutations related to heritable breast and ovarian cancer. Last week, the US Supreme Court ruled against patenting the gene, and the story of her initial discovery is the subject of a forthcoming Hollywood film. She tells Sara Reardon just how far her field has come
You discovered the BRCA1 gene in the early 1990s. Soon afterwards, Myriad Genetics determined and patented the sequence of the gene. At the time, were you surprised by that?
Genes had been patented before; the cystic fibrosis gene was patented. But I don't think anyone – from the US National Institutes of Health or anywhere else – anticipated the level of patent protection Myriad has engaged in.
What was different about Myriad was its insistence that it was the only entity that could do the test and its aggressive efforts to shut down anyone else. That's why in 2009 the American Civil Liberties Union filed the suit that has gone all the way to the US Supreme Court. They brought the case on behalf of people who needed tests and were not able to get a second opinion.
On 13 June, the US Supreme Court ruled that genes occurring in nature cannot be patented. What is your reaction to the ruling?
I am delighted. This is a fabulous result for patients, physicians, scientists and common sense. When I was working on it from 1974 to 1994, it did not cross my mind that a legal case that would end up in the Supreme Court would be the consequence of my work. But it did and sometimes that's what happens when you start in a new area of science. It is a relief to have a decision after so many years, and I'm so gratified that it was a unanimous decision.
What's next for genetic testing, now that we have this ruling?
Developing multi-gene panels – one-stop shops for testing for susceptibility to breast and ovarian cancers on many genes – has been a very high priority. The multi-gene test we developed, called BROCA, has been used for months, but until today we had to mask BRCA1 and BRCA2. The Supreme Court ruling removes the illogical situation of being able to test all genes but having to mask some. Multi-gene tests can now be made available to people by many firms. In fact, I think they were on the market straight after the ruling.
BRCA genes were also in the news recently when Angelina Jolie had a double mastectomy after learning she was a carrier of a harmful BRCA1 mutation. Was that welcome publicity?
It was a wonderful piece she wrote for The New York Times, she's come to understand it very well. I hope Angelina Jolie being so clear about what this involves and the development of next-generation sequencing lead to more women getting sequencing done. Most cancer isn't inherited, but there is a straightforward genetic test; if a woman is concerned, she can find out. I would like to see women in their 30s offered genetic testing more routinely at a time when something can be done about it.
Your discovery is the subject of the new film, Decoding Annie Parker. What is it like to have a movie made about your work?
I had nothing to do with it at all and did not know about it until after it was complete. I found out by accident. One of my grad students came in and said: "You never told me there's a movie about you."
"There is not a movie about me," I replied and didn't even stop what I was doing. She showed me on her laptop, and I thought "yeah, sure". But then I checked for myself, and sure enough there it was.
The film suggests you really struggled in the 1980s to convince people that some cancers have a genetic component. Was that the case?
The main experience of the period was that people completely ignored me. I was a young woman, not a physician, working on my own with modest support from the National Institutes of Health.
There was active opposition from some groups. But there was also terrific support from clinicians who had patients from families with large numbers of women who'd had breast and ovarian cancer. They wanted to know what to do about it. They knew it wasn't because of something the women had done wrong. I had a great deal of support from oncologists and couldn't have done the project without it.
Today, of course, cancer genetics is a booming field. Is that thanks to the BRCA genes?
I think it increased interest enormously. It confirmed the idea of inherited predisposition to cancer. My work showed that one could use the tools of genetic analysis to prove the existence of genes responsible for an inherited form of a major common disease, and that you can parse out the inherited portion.
Most breast cancer isn't inherited, but when it is, it's devastating. Today there is the recognition that even if a disease is genetic in most people, the particular mutation that any one affected person carries is likely to be rare.
So each patient may carry a different mutation in a different cancer gene – and we now know of dozens of such genes. How can you look at all of these in detail? It seems a tall order.
The BROCA test uses technology we have developed with next-generation sequencing that identifies all classes of mutations in all known breast and ovarian cancer genes in one tube. It's a single test that's much cheaper to run than commercial testing. And we want to make it available as widely as possible.
What does the test name BROCA stand for?
It is named for the 19th-century French surgeon and pathologist Pierre Paul Broca, who was the first to describe inherited breast cancer in families in a systematic way. Based on his work, we are currently trying to trace the relatives of these families from the 1860s to see if they have BRCA1 or BRCA2.
How has medicine changed since you started working in cancer genetics decades ago?
I think we are now in an entirely different landscape. What has changed the most in the past 35 years is the technology. The questions people have been asking about genetics and ancestry and the relationship of genes to disease have been the same for hundreds of years. What has changed is our capacity to answer them. What we have been doing in the research laboratory all along, we can now move into patient care.
Correction: When this article was first published on 14 June 2013, it erroneously credited Mary-Claire King with discovering the BRCA2 gene. This has now been corrected.
This article will appear in print under the headline "Powerful genes"
Mary-Claire King is a professor of genetics at the University of Washington in Seattle. In the early 1990s, she discovered BRCA1, a gene whose mutations can cause breast and ovarian cancer. Her work inspired the forthcoming film Decoding Annie Parker, in which she is portrayed by Helen Hunt
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