What To Do With A “Deleterious Mutation”?
An Interview With Joanna Rudnick On In the Family
See In the Family
In celebration of the passage and signing of the Genetic Information Nondiscrimination Act, the filmmakers will hold two screenings at the E Street Cinema in Washington, D.C. at 6 p.m. and 8:30 p.m. The event is free. Register here with Genetic Alliance.
In the Family premiered last month at the Silverdocs festival in Washington, D.C. and will run on the PBS series P.O.V. in October.
Learn more at the film’s website.
When she was 27, Joanna Rudnick found out that she had inherited a genetic mutation leaving her with an 85 to 90 percent chance of developing breast cancer during her lifetime. Armed with this knowledge of her own DNA, she now must decide whether to follow the primary available course of prevention: surgical removal of her breasts and ovaries.
To grapple with her own choices and to explore the impact of genetic testing for the BRCA mutation on women across the country, Rudnick set out to make a documentary, In the Family. If decisions about prophylactic mastectomies and hysterectomies were not difficult enough, Rudnick must also balance her genetic privacy and medical treatment before the passage of the Genetic Information Nondiscrimination Act. She talks to mothers fearful of passing the mutation on to their daughters. She finds sisters grappling with the choice to get the BRCA test in the first place. And she also finds a strong, supportive community of women brought together by their common battle against cancer.
Now 31, Rudnick spoke with Science Progress about the impacts that genetic medicine and public policies have on the lives of women from all walks of life who face empowering and frightening decisions wrapped in their own genes and family history. This interview has been edited.
Andrew Plemmons Pratt, Science Progress: Can you tell us about when you knew that you needed to make this movie, and why?
Joanna Rudnick: When I was 27 years old, I got tested for both BRCA1 and 2, and found out that, like my mother, I was positive for a mutation on the BRCA1 gene. I received a piece of paper that said I was positive for a “deleterious mutation,” and was stunned by the information and didn’t exactly know how to talk about it with people who were my age, my peers—really anyone. I didn’t know how to talk about breast and ovarian cancer, but I have this incredible predisposition to getting both of these diseases. I felt very stigmatized, and really knew that there needed to be a language where we could talk about this, so we didn’t feel like we were tainted, all of us with genetic mutations, and that we could create a culture where this is something we could talk about without fear of discrimination—without fear of not only discrimination from employers and insurance companies, but discrimination from friends, colleagues, peers. Again, that feeling that you’re tainted or something is wrong with you because you basically inherited faulty DNA.
SP: Was there anything in your experience or training as a science journalist that informed the way you put this movie together?
Rudnick: I made this film at Kartemquin Films, which is a production company that has 40 years of experience of putting a human face on some of these complex social issues. So it went away in a sense from a lot of my science journalism training—which is really focused on helping people understand what genetics means, and taking the science and making it easy to translate—but instead focusing more on the people themselves who are affected by having this information.
We’re really telling the stories of the individuals who are struggling and families that are struggling with this information, and what it means in a psycho-social context to look at yourself as someone, again—who is tainted or has this incredible 80 percent risk of getting breast cancer—and what it means to walk around everyday with that knowledge. We really moved away from including a lot of science in the film. We do have an animation that we use to explain how the BRCA gene works, and how having a BRCA mutation could lead to cancer. But in a sense we really focused on letting the women themselves, and the family themselves, tell the stories, rather than having a lot about future treatments or some of the science of what’s happening with BRCA.
SP: There’s a really interesting moment in the movie with Dr. Mary-Claire King, the geneticist who identified the link between the BRCA gene and increased risks of cancer. She says, “Living with the predisposition is like being a cancer survivor.” Do you feel like that rings true?
Rudnick: I don’t know what it’s like to be a cancer survivor, thankfully, but I think in a sense what she was saying is that you’re always looking over your shoulder. Once you have cancer, you’re always thinking, is it going to come back? Living with BRCA, every time I have a pain in my breast, or I have any kind of feeling of being bloated, or just a fear, it’s constantly in the back of my mind: am I going to get cancer? When am I going to get cancer? Am I going to be able to fight it? Once you know that predisposition is there, it’s very hard not to think about yourself as someone who will eventually get these diseases if you don’t do something about it. So you are constantly looking over your shoulder and pleading not to get these diseases. I think that can be similar to someone who is worried about a recurrence of a disease.
SP: You mentioned privacy; you and the women that you talk with in the film were all tested for the BRCA mutation before the recent passage of the Genetic Information Nondiscrimination Act. Can you talk about the privacy decisions that you made when you got tested, and how GINA going to change those decisions for people in the future?
Rudnick: I’m definitely someone who was impacted by the lack of protections when I got tested. I was very nervous that I could potentially be discriminated against by an insurance company and be dropped, or be charged higher premiums because of this predisposition that I have. As you know, people who have had cancer have difficulty getting insurance coverage. So I thought, “well I have this incredible risk of getting cancer, they’re going to see me as someone who could potentially be extremely expensive and be a liability.” So I did actually test anonymously. And I was fortunate in that I knew what particular mutation I was looking for, so my test was only $250, as compared to the $3000 price tag—or even higher now—I believe, that Myriad Genetics charges for the test. So I did test anonymously and I paid out of pocket, and again, I had the privilege of being able to pay out of pocket—a lot of women don’t.
I kept that information out of my medical records for years. I would go to a doctor and they’d be asking me all these questions, like “Why are you getting this test?” and I would say, “Well I have the BRCA mutation.” They’d go to write it down and I would say “No, no, no, don’t write it down!” because I thought I could potentially lose my insurance, and I realized I was in a sense harming myself by not being able to keep it in my medical records. That was a harmful thing. So I think many of the women, like me, who were living with this information pre-GINA were always worried, again, looking over our shoulders, asking “are we adequately protected?”
It was less that there were actually cases of women being discriminated against because of having BRCA, and more that fear of being discriminated against or the privacy being infringed. I think that fear actually kept a lot of people from testing. That’s what we’re working on now: how do you kind of break down that culture of fear and tell people that this law is there to protect them and their rights? They do have the rights: having faulty DNA doesn’t make you someone who should be discriminated against.
SP: You mentioned being in a position where you could pay out of pocket for these tests, and you knew exactly what you were looking for. While the mutation affects women across ethnicities, that doesn’t necessarily mean that women of various backgrounds are tested with the same consistency. There are disparities. Can you talk a little bit about the impact this has on the health of women of different backgrounds?
Rudnick: That’s a really great point. When BRCA first came out, it was associated with Ashkenazi Jewish women. A lot of the early studies were just done in Ashkenazi Jewish populations, where 1 in 40 individuals does have the mutation, which is extremely high. But the truth is that women of all ethnic backgrounds have BRCA mutations. The estimate is anywhere from 1 in 400 to 1 in 500 people carry BRCA. That’s kind of a contradictory figure; I’ve seen it as high as 1 in 700. But the fact is, it’s common, and it’s common in all populations.
What we found in working on the film, talking to genetic counselors, and looking at the research, is that minority women were less likely to be referred. Part of that is that because this initial research was done on Ashkenazi Jewish women, physicians would not necessarily see a woman who was African American, Hispanic, or Latina and think that even though they had this incredible family history, it could be caused by a BRCA mutation, but, in fact, it absolutely could be.
Martha, one of our characters in the film, tests for something called “a variant of uncertain significance,” which shows you how imperfect our genetics knowledge is right now. It’s a change in the DNA where we don’t know if it’s deleterious—meaning it caused her breast cancer, and she’s a three-time breast cancer survivor—or if it’s not a harmful change at all, just a regular kind of fluke in her DNA that isn’t deleterious. I think because researchers haven’t tested enough African American women, as the genetic counselor says in the film, that’s part of the reason why they haven’t reclassified these mutations that they’re finding in the African American population as either deleterious or benign. That raises a lot of questions about access, and about perceptions about who actually carries these mutations.
SP: Are there projects that you’re aware of that are trying to close that testing gap, and educate women—particularly in the African American community—who might not know about the possibility for testing?
Rudnick: There are people out there who are working on that at universities, and the program that we profile in the film is actually funded by Avon, and that’s a special assistance program in a county hospital in Chicago, to provide genetic testing to women who are underinsured or uninsured, and to make sure that they actually have access to this information that they normally wouldn’t be getting because of the cost of the test. But educating physicians is also important so that they understand that not only Ashkenazi Jewish women are at risk for having a BRCA mutation, but that it is much more common amongst all ethnic groups.
SP: You mentioned a couple of times the cost of the test, and part of that is connected to the fact that there is one company that provides testing for BRCA, Myriad Genetics. Can you talk a little bit about the way gene patenting controls this particular situation, and what people think about the fact that one particular company literally has a patent on the gene?
Rudnick: Like many of the women that I talked to and families in the film, I was very shocked to find out that genes were patented. My first response was, “How can you possibly patent a gene? It’s something that exists in nature.” I think not that many people are aware of the fact that there is a lot of natural material and natural products that are actually patented.
I really wanted to go to Myriad to talk to the founder of the company, and ask about why it’s OK to patent genes, in that sort of pure and simple way. Why is its OK to patent genes, and what are some of the results of patenting genes? When I was there in the interview, you saw that I asked him about research, and does patenting actually impact research? How does it impact the search for a cure? Very importantly, how does it impact the accuracy of the test and the cost of the test? I think those are two things that really come out in the film. By owning the exclusive patent, Myriad does control the cost of the test, and there is no other, cheaper test that you could go get in another laboratory, because they have the exclusive patent. They also control the efficacy of the test. If they are missing mutations, there’s not another test out there that could be a better test, a cheaper test, a quicker test, and even a more accurate test. It’s not just the actual test, which I think people sometimes don’t understand, and it’s not that they only have this one way of testing. They actually have the patent on the gene itself, the composition of that particular gene, because they sequenced it. I think a lot of people are kind of amazed to learn that, so we wanted to bring that up in the film.
SP: Another controversial thing that’s happened with Myriad is that in the fall, the company started an advertising campaign that encourages women with certain hereditary histories to seek out the test, which seems a little strange, to be marketing a test for this predisposition when they are the only company that controls it. Can you talk a little bit about that particular push to advertise the test, and the impact that might have on people?
Rudnick: I can put myself in the position of being a high-risk woman, whose mom had ovarian cancer, whose grandmother had breast cancer, who has kind of one of those classic families. If I was sitting at home one night, watching that television commercial, and I didn’t know what I know now—that I do have this mutation—I would be terrified. I would see that commercial and I would be terrified. And if I didn’t know how to find a genetic counselor, or I didn’t know where to go to get the test, or I couldn’t get to a genetic counselor for some reason, I think that would really create a lot of fear inside of me that for some women may be unnecessary. Everyone is so afraid of breast cancer. It is an epidemic: you look around you, you know someone who has breast cancer. But only 5 to 10 percent of all breast and ovarian cancer is hereditary. Which is not to say this is not a significant population, because we’re disproportionately affected, because we’re affected young. But there are a lot of women out there who may have breast cancer in their family that was caused by a different gene that we haven’t found yet, or that there isn’t a test for, or that was caused by other factors.
So I think that there’s a real responsibility in how we get this information out there. What the film shows you is that it’s not a simple blood test. There are repercussions afterwards, in terms of how it impacts your life, and good genetic counseling is very important. What I’ve heard, is when those commercials came out originally, and they were directly marketing to women, there weren’t enough genetic counselors in those areas to actually field the calls of these women who were very distraught and distressed. And I think that’s a very scary proposition—to be out there, and to have this potentially devastating information, that you don’t know whether or not you’re even appropriate to get the test, and not have the right support system that you need to make the right decisions for yourself. Knowing this population and what we show in the film, you really see how important getting that pretest counseling and that post-test counseling is for these families. This is just straight family dynamics, where sometimes you have one person who wants to know, and one person who doesn’t want to know. Without good counseling, that could create serious rifts in people’s lives.
SP: There’s actually one scene in particular where you are filming at the moment where three sisters who have decided to all get tested learn their results, and they’re speaking with a counselor, learning about their predisposition. Why is it important to show that particular moment, and that particular support? It seemed like a very important part of the movie.
Rudnick: That’s a great question. First of all, I am so grateful to Mary-Claire King and her genetic counselor Jessica Mandell, and those three sisters, for allowing us in, the entire family, on what is such an incredibly personal and sensitive moment—especially when you have three young girls, testing at the same time, and knowing that, most likely, not all of them are going to have the same result.
I think what was so important about showing that is it’s almost impossible to explain to people what it means to actually get that information, and just the reaction in that moment. We also tried to show in the movie is that it’s so much more than that particular moment, the gravity of the information. It was really important for us to show how a genetic counseling session actually happens, to demystify it a little bit. We wanted to provide as much information for individuals thinking about testing as possible, and we thought it was important for them to actually see what that moment looks like and feels like, as much as you possibly can without being those individuals.
As a filmmaker, I think you are just so grateful. And as someone who went through that experience—and to think about a film crew being there at a moment where I was absolutely devastated to find out my results. I was just so grateful that they were open enough to let a camera in there, because they wanted people to understand what it’s like to get this information, and also, I think there are some moments—even without giving away what happened in that session—that you see that this information can be handled in a way that helps the people who are getting it prepare for the future. And that again speaks to good counseling.
SP: Let me close on a fairly personal question: how are you preparing for the future? Part of the movie is you going through a process of learning about your options for how you can deal with the chances that you have, over the course of your lifetime, of developing breast or ovarian cancer. Where are you in that process?
Rudnick: I think you’re asking me about an interesting point. I think in a way the process of making the film was sort of this brilliant distraction, and this was a wonderful way to talk about and tell the story without really thinking as much, even though in the film I’m absolutely thinking about my own life. But now that I’m no longer sitting and making it as a full-time profession, I’m thinking a lot more about my own future, and the choices that I have to make.
It’s getting more frightening to me, that I’m getting closer, I think, to making surgical decisions. I’ve certainly decided that by 40 I have to remove my ovaries, which is absolutely the recommendation. My mom got ovarian cancer at 43, and you learn in this film that every woman has a magic age, and every woman who had a relative—because it can be passed down through a father—it comes unexpectedly. But women who have seen a relative go through breast or ovarian cancer, first degree, that’s what they think of their lives. So I see 43 as a scary age. That’s when my mom was diagnosed. Every year, it becomes more real.
And they’re difficult decisions, you know? I could say that I wish it was easier, and I could just answer this, “I’m going to have the surgery, I’m going to have it on this date.” I’m still struggling.
SP: What should readers understand—those who might be grappling with these decisions on a personal level, and those who are making decisions within the medical or policy community? Is there anything that you think they need to understand about this particular film?
Rudnick: I think that there are a lot of resources out there for women and for families who are going through this. There’s an amazing support group online support group called FORCE, or Facing Our Risk of Cancer Empowered. Their website is facingourrisk.org, where there is tons of information about screening options. One way to go with this is to watch yourself extremely closely. We’re getting better at catching cancer early, and screening, and there’s MRI technology for looking at the breast, which is really a new, wonderful way of trying to detect cancer early. There are also surgical options, and there are women out there who’ve been through and taken both tracks, who are extremely supportive, and are willing to talk very openly. They gave me the courage to come out and talk about it. Part of it is families getting together and talking about this history very openly with each other, and moving away from female cancer, talking about breast and ovarian cancer. But there are some amazing surgical outcomes out there. You see women cut off their breasts, they remove the breast tissue that could become cancerous, and they oftentimes get beautiful reconstructions, and they look great, and they’re still sexy, beautiful. There are really empowering choices out there. So we don’t have everything we want, but I think that there is some very brave decision-making happening, and it is a gift to have this information, to think that you can avoid the fate of your genes and your destiny. You step back from it, that’s a pretty awesome ability to have.
SP: You have some screenings coming up here in the DC area.
Rudnick: Our next screening is July 10th. We have two screenings at the E Street cinema to celebrate the passage of the Genetic Information Nondiscrimination Act. We hope everyone will come out, and they’re free. You can learn about them through the Genetic Alliance, or on the inthefamilyfilm.com website. Also, we will be airing nationally on public television on the Point Of View series on October 1st; check your local listings.
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