New York Times
In the Family
Michele Kort: Hello, I'm Michele Kort, senior editor of Ms. Magazine, and I'm talking with Joanna Rudnick, the filmmaker and main character of the documentary In the Family. The film follows what happens when Joanna tested positive for the breast cancer gene at age 27.
We're also joined by New York Times correspondent Amy Harmon, who won a Pulitzer Prize on her series of articles on the DNA age, which explores the impact of genetic technology on American life. Welcome to both of you.
Joanna Rudnick: Thank you.
Amy Harmon: Thank you for having us.
Kort: Joanna, you've lived with the knowledge that you have the BRCA mutation that increases your risk of developing breast or ovarian cancer. You've lived with it for about seven years now, and you've made a film about it. So how has living with that knowledge changed shape for you over the years, especially now that the film is out?
Rudnick: The most profound change that happened during the filmmaking process is that I became comfortable with talking about having this information and talking about what it means for me to have a genetic mutation. And it's become a regular part of conversation, so I don't feel as tainted or stigmatized about it or feel that my family's cancer history is something that I want to keep hidden or silenced. I've really changed the way that I see this knowledge; I see it more as a gift and something that I can freely share with other people, rather than something that is negative or tainted and makes me somehow damaged. So that's been an extreme change for me as to how I actually view the information and view my own body with the information as a result of making the film.
Kort: When I watched the film I immediately dreamt of cancer that night, and you've said to me that you dream about it a lot. Do you ever think: "I just don't want to think about this for a little while?"
Rudnick: Of course, we all wish we could have a holiday from things that are difficult and difficult information, but you can't. It is always there and I can't predict when it's going to be very dark. usually the time I'm going to have a screening appointment — a transvaginal ultrasound, because my mother had ovarian cancer — is a very difficult time for me, and I'll dream about getting cancer and having the same path that she had. And I think when you're living with this information it's difficult to not let it get in and affect you in that way and not think about what it would be like to get that disease. It becomes very real to you, and I think that's a natural part of it.
But at the same time, I would say that I have those dreams much less frequently now that I've been living with it longer, and I have, again, taken it into my life, now that I know that there's choices that I will make in the future that will hopefully prevent me from getting these diseases altogether.
Kort: Amy, you wrote about a woman named Debra Lindner, who was in a similar situation as Joanna and chose to have preemptive mastectomies. This was about a year ago. Can you give us any follow-up on her life since then? I was wondering if she stayed with her boyfriend, because in Joanna's movie the boyfriend plays a prominent role, but they ultimately break up.
Harmon: Right, and that was a struggle for Deb too. So she's not with the boyfriend that I wrote about in the story. His name was Jeff. There's a new Jeff. [LAUGHS] Actually, I think it's the third Jeff in her life. But this one I think seems to be a keeper. And she said something very interesting to me recently, because I think that one of the big concerns for women who test positive for the BRCA mutation is how does that impact their relationships with the men in their lives? Or not just the men — any life partner. And Deb said it's a great sorting mechanism. I think that it was disappointing for her that that first Jeff couldn't quite stick it out, couldn't really deal with it. He was there for her during the surgery, which was important. He's a good guy in that basic sense, but he couldn't really deal with it afterwards. But now she's with somebody who can, and I think that for the people that do choose to get this knowledge about themselves it can't help but impact their lives ways like that.
Kort: Joanna, how are you feeling about relationships these days, and is there anyone in your life since Jimmy, who's in the film?
Rudnick: You know, I definitely agree with Deb's sentiment that the right person will be okay with this information and will understand how to support a woman who's living with this or made the choice that Deb's made, or choices that I eventually am going to make. I am dating right now, and I actually talk about this issue on the first date, which a lot of women wouldn't do. And certainly I've been advised not to.
At the same time I feel that it is a great sorting mechanism, and anyone who is going to be in my life is going to realize that this is an enormous part of my life, not only because I spent five years making a film about it, but because I will be living with this information even if I do decide to have the breast surgery, I'll still worry about then passing it on to my children. This is a lifelong endeavor, this legacy for me, and I'll be looking for a partner who is able to understand that and not be afraid of that aspect of my life.
Kort: You make it clear in this film that you want to have children before you have an oophorectomy and remove your ovaries. But what about the concern that you might pass along the gene mutation to children? Because in the film that seems to cause a lot of anguish for the mothers who had BRCA that didn't know about it and passed it along to their daughters.
Rudnick: That's absolutely a concern, and recently, I was in a genetic counseling session with somebody who tested positive for the BRCA gene, and who has children. She was so upset about what her children's futures would be like, and she had a five-year-old daughter. Her daughter can't get tested until she's eighteen, so it was going to be a long time of wondering, "did I pass this on, did I not pass this on?" So that's a constant thought that goes through my mind: how will I feel if I do pass this on to a child, and would I actually go though something like pre-implantation genetic diagnosis, where I do in vitro to actually prevent passing it on? That's a very complicated procedure right there. It's been a conversation that I've had with myself, but actually I would like to have with a partner in the future and hopefully we'll decide together what is the right decision when it comes to having children.
Kort: Now, Amy, you wrote about this, the pre-implantation [genetic] diagnosis, where you create the embryos in vitro, test them for genetic defects and then choose which ones you want to implant. And I'm just wondering if this feels at all like a brave new world, where people with a lot of money — because it's very expensive — can choose all the characteristics of their children?
Harmon: I think that's a huge concern about PGD, the pre-implantation genetic diagnosis. It was a procedure that was used by families who knew that they were carriers of really deadly and horrible childhood diseases, and there was still then sort of the economic equality issue. But it's a slippery slope, but now, as I wrote about, it's being increasingly used for adult onset diseases, so you have couples who usually have had really horrible cancer — I wrote about families who were doing this for passing on a susceptibility gene for colon cancer and the susceptibility gene for breast cancer, which Joanna has.
The couple that I wrote about, the father had this colon cancer risk gene, and his mother had died of it, and many, many uncles and relatives throughout his whole family have died of it. So you watch these people die this horrible death and you think, well, I don't want to pass that on to my child if I can avoid it. And so they had the means and they chose to have a child by implanting only the embryos that did not have the susceptibility gene.
But it is a question of people who can afford to do it are doing it and people who can't afford to do it can't do it, and so do we become this very sort of stratified society in terms of a new kind of genetic inequality?
Kort: This is a question for either of you, but on a philosophical level, do you ever think that it's a way to try to cheat a known fate when you get tested, but you don't know what other fates might await you or your children? You test for what you can test for, but then who knows what else might happen.
Rudnick: Well, I want to answer that on a personal level, because I thought about that too. One thing, and a lot of other women in the BRCA communities do bring this up, is that I would not be here had there been PGD, and I think I've led a pretty good life. I'm 34 and I have been healthy. Cancer is a terrible fate, and women have lost many family members to it, and I do understand why people do turn to PGD who can afford it for adult onset diseases, yet you're trying to get rid of the BRCA genes. Your child could have something else, could have another disease, and they could still get cancer. I think that's very important for people to understand; you can't avoid your children ever getting breast cancer, which is still a high rate in the population on its own. I really agree with what Amy said. It's a very slippery slope, and it does have the potential to create a stratified society and to create this genetic underclass, and I think we should be really carefully engaging in these conversations.
Harmon: One of the women that I talked to for the story said that she was doing this, she was trying to do PGD, but she was having nightmares that the child that she selects would drown in a swimming pool as opposed to if she had just had a child chosen by fate who might carry the risk gene but would have been a good swimmer. That's the kind of scenario that people are contemplating, yet she was still going on to do it.
Kort: Joanna, how do you feel about testing for diseases that you can't prevent, such as Huntington's? If you find that you have the Huntington's gene you're probably going to get it; there's nothing you can remove to not get the disease.
Rudnick: Right. It's an impossible question for someone who's not in that position. And one thing I really learned from making this film is that it is so individual, and there's people out there — and Amy can talk about it; she's written about this — who just really want the knowledge. They know the test is available, they may not change how they live their lives, they realize there's nothing they can do about it, but they want that knowledge. They want to know whether or not they are going to get that disease.
At the same time, I was having dinner with a woman last night whose mother died of breast cancer when she was 47, and she said, "I don't want to get the BRCA test, because I wouldn't do anything differently. I would not have the surgery."
The majority of the women who are BRCA positive are not getting prophylactic mastectomies, so that may change over time. I think that she said: if I'm not going to do anything differently and I'm getting mammograms, why would I actually get this information? So I think it is so individual how we think, how much risk we can handle and how we look at our futures. Amy, you've written about Huntington's and you can certainly speak to this.
Harmon: I wrote about a young woman who had watched her grandfather die of Huntington's disease, which is an adult-onset disease that usually starts around middle age, and it's a really horrible neurological degenerative disease. You lose control of your brain; you lose control of your body over slow deterioration. And it is incurable, so if your parent has it you have a 50 percent chance of getting it and there's nothing you can do about it at the moment. And she decided she wanted to know at 23 if, at 40 or 45 or 50 this was going to start to happen to her. Most people in her position choose not to know, they don't get tested.
But what my story was about was that more and more young people in this generation are deciding that they are interested in that knowledge. I think part of the reason people choose not to know has to do with the stigma associated with it in our society, and I think that as more and more people get their genetic information and as it becomes part of everyday life that stigma's starting to lift.
So I think that Joanna's right, it's a very individual thing. And for people who don't want to know, they feel that that would just be this huge shadow over their lives and how could they live with that knowledge, and then they choose not to know.
This woman that I wrote about found it to be a very valuable part of her life now. She's devoting her life to fighting for a cure, to raising money, to going out and speaking about Huntington's disease. She's a very big part of that community, and she's also aside from that just living her life differently.
Kort: So she tested positive?
Harmon: She tested positive. She has it. Now she's 26 and she knows she has until she's about 40 or 45 to live her life to the fullest that she can, and that's what she's doing. She feels that it is this sort of fundamental part of herself; it's in her genes, and to not find out about it would be to deny a fundamental part of herself.
Kort: What about colon cancer, Amy? Are people having sections of their colon removed if they test positive?
Harmon: The main thing they're doing is being more vigilant about screening, because that is a very effective way to guard against colon cancer. But many people [screen] and you can do that obviously without getting a genetic test — but many people just don't do it. So knowing that you have the risk gene makes you go in for those appointments.
Rudnick: I just wanted to add something: one thing that I've found very valuable about having the information is that physicians take me a lot more seriously. Also, I'm able to get my insurance company to pay for some of these preventative measures. I wouldn't if I did not have the BRCA test. Physicians know that I have the BRCA mutation, and every time they're screening me, I know they're thinking that this woman has this incredible chance of getting cancer, and that gives me some security as well. So it's not only that I'm going out and getting the testing. I think it's that they're thinking of my health a little bit differently, and that gives me some security.
Harmon: One other thing on this point of the things that you might or might not want to know about: Huntington's is a very rare disease, and there's nothing you can do about it even if you do carry the gene. But if it's not in your family (unless you're adopted, or your family history's been obscured), you're not carrying the susceptibility gene.
But there's an allele [genetic mutation] that raises your risk of Alzheimer's to higher than 50 percent. That's also rare; I think it's carried by maybe about two percent of the population. But that's something that is a much more common disease, and we could all choose to know. There's a test that's available. So whether or not to get tested for various genetic mutations is a question that I think we're all going to start to face for a number of different types of conditions.
Not all are as serious as Alzheimer's or breast cancer, but it's an issue of: do you want to know this kind of thing about yourself, which is not necessarily going to tell you definitive information, but it is going to give you information that you can hold in yourself, and it might change your self-image, it might change the way you behave. I think that's something that's going to be broader than just for rare diseases.
Kort: Of course if you have the Alzheimer's gene and you know it, and every time you forget something you might be going, "Uh-oh."
Rudnick: It's the same thing as the fact that every time I feel something in my breast I go, "Uh-oh." Your consciousness of your body and of those particular vulnerabilities of course change once you get tested. There's no stopping that.
Kort: I have another scientific question here, and Joanna, I hope you can answer this. After one of the women in your film, Olga, tests negative for BRCA, she's greatly relieved that her daughter won't have the mutation. But earlier in the film you talked to two young men who carry the mutation and suggest, if I heard it right, that they can pass it along. So what if Olga's daughter's father had the mutation?
Rudnick: Sure, and that's a legitimate question. Men certainly do carry BRCA and pass the mutation onto their children. They also have a 50 percent chance of passing it on. The father of Olga's daughter, Selah, has no breast and ovarian cancer in his family, so the assumption is that she would not be carrying the BRCA mutation because he does not fit the profile. So that's where that assumption comes from. If he did have a strong, compelling breast and ovarian cancer history, then they would test him, and then she may also actually be at risk.
But Olga now knows she could not have passed the gene on to her daughter, and the assumption is her husband did not as well, so that her daughter is free of having to worry about that legacy.
Harmon: I think that's really important to emphasize. We should just emphasize that again, because I think it's something that is often not caught in family histories. Even doctors forget to ask about this. We assume that breast cancer comes from our mothers because our mothers have breasts. But if your father's mother had breast cancer or ovarian cancer, or her sisters did, then you have a family history of breast and ovarian cancer and you could very well have gotten the BRCA gene mutation from him.
Kort: Let's talk big business here for a moment. Joanna, in the film you really take on the founder of Myriad, which is the company that owns the patent on the BRCA genes [both BRCA1 and BRCA2], and of course you question how can anyone own a patent on a gene. You also talk to this man about why the company charges over $3,000 for the test to see whether you have the gene. And so what I want to know is what do you really think of Myriad?
Rudnick: I think the patenting system itself is broken, and that the loophole that allowed companies to patent genes and to patent other natural life forms is indeed dangerous. Myriad itself does good testing, but by having the exclusive patent on both of the BRCA genes I do think it negatively impacts research. Also, you can't get a second opinion, you only have Myriad. If you get a false negative there's no other way to check whether or not it's truly a negative. Myriad has the only lab out there that is doing BRCA testing in this country.
The cost of the test, because they have a monopoly and control it, is extremely high and it does prohibit some women who cannot afford it and cannot get it covered by Medicaid to actually have access to the test. I think for Myriad to actually cover a test for a woman who is underinsured or uninsured, the woman would have to make less than $12,000 a year. There's a lot of women without health insurance that make more than $12,000 a year, but still cannot afford to pay for full sequencing, which costs over $3,000. And there's no reason that the price of the test should be so high. Even Mark Skolnick says that in the film, that we should think of lowering the cost of the test, when recently Myriad just increased the cost of the test by one percent. So I think Myriad is a product of what's gone amuck in the patent system, and especially with genetics, where parts of the genome are patented and we don't even know what they do.
And one more thing: we know that genes do not work alone. They work in concert with other genes. So we're going to need to be able to test multiple genes to understand if a woman may have something to protect her from not getting breast cancer, or that makes her chances of getting breast cancer that much higher. So we need to have access to Myriad's database, and researchers need to be able to test that gene along with other genes, and they cannot do that right now without getting a cease and desist letter or paying quite an exorbitant fee to Myriad. So I think it's potentially keeping us away from progress in finding more information out about how BRCA works with other genes in the body.
Kort: Now, Amy, in one of your articles you point out how Myriad did license the right to others to do the pre-implantation genetic diagnosis for BRCA. I couldn't help but think there's some anti-abortion sentiment in the company, am I right? So that if they didn't want to touch the PGD is it because they were afraid that people were going to use those results to destroy embryos?
Harmon: I don't really want to speculate on what the sentiment is within Myriad. If they really were anti-abortion they could have just not licensed and not let anyone have the right to do that test. When you're talking about abortion are you talking about the possibility that they would be against the creation of embryos that are not used?
Harmon: I didn't even get into this in my article, but it certainly is possible to do a prenatal test of a fetus to see if that fetus is carrying a BRCA risk gene, and to then have an abortion. But that's unusual in our society now, and so people are much more comfortable with testing an embryo. I really don't want to speculate on what Myriad's view of that is. They did license the right to other people to do that, so you can look at it both ways. They didn't want to do it themselves, but they let other people do it.
Kort: One other question, just to finish up this thing about the business aspect of BRCA: has Mary-Claire King, who actually discovered the mutation, shared in any of the profits at all?
Rudnick: Mary-Claire King actually discovered the location of the chromosome that the BRCA1 gene lives on, [on] Chromosome 17 I believe. That was her discovery, and then there was an international race that began to actually sequence the BRCA1 gene, find the exact location and then sequence the entire gene. The National Institutes of Health and a number of universities were involved, and Mary-Claire King had a team that was looking for that location at the same time that Myriad was. As Mark Skolnick says in the film, Myriad won the race; they sequenced it first and they were able to get those patents. I don't believe that she has shared in those profits. She does hold other patents, not exclusively, and as she says in the film, at this point for most of those patents she gets very little in royalty; she says her last one was $1.75. So they're not exclusively held, and the licensing fees are very low, and at this point she does not patent genes at all. So while I'm not entirely sure, I do not think that she's shared in those profits.
Kort: Looking at this politically, there's finally the GINA Act, which means that insurance companies now by federal law can't discriminate against individuals on the basis of their genetic makeup. Does more need to be done to protect women from such potential discrimination?
Harmon: It's important to say that GINA, as it's called, the Genetic Information Nondiscrimination Act, doesn't cover long-term insurance or life insurance or disability insurance. We also haven't seen it tested yet.
Kort: So, in other words, more does need to be done?
Harmon: In terms of how much the test costs, if we had universal healthcare that might not be an issue. And there's the question of whether, as we do get more and more data about our genes and we know what we are predisposed to and what we're not, whether the kind of private insurance industry that we have now makes any sense, where the presumption is that you don't know your risk and so it's sort of this pooled risk, and the people who turn out to be healthier end up paying for the less healthy. But if we all know our risks, that system just doesn't seem to make that much sense anymore.
Rudnick: I tested for BRCA anonymously when I tested, and I was 27 years old, seven years ago. We didn't have GINA, there were state protections at the time, some pretty good state protections, but I was terrified of losing insurance because of having a preexisting condition. Of course, when you test positive for BRCA you need insurance, you need preventative care, which is very difficult to get in the first place. So I kept it out of my medical records for years, which was very damaging: I had to keep telling doctors that I had this. It was not in any medical records.
I wanted to fight for GINA, because I knew that the fear of losing health insurance was keeping a number of women from getting this information. So it's an incredible breakthrough. Senator Ted Kennedy called it the most important civil rights legislation of the new millennium. It's an incredible victory.
And, yes, we do need to do more, but one thing I also want to point out is there have been no documented cases of discrimination by an insurance company based on testing positive for BRCA. And some people theorize that that's partly because the National Breast Cancer Coalition was very vocal when BRCA came out, saying to the insurance companies you cannot discriminate against these women who get this information. That's what Susan Love had said to me in an interview, and I think that's a very interesting and important point.
So we need to educate people also about the fact that GINA has been passed — and I think genetic counselors are key to that — and about the fact that women are now protected, and when the law goes into effect in January they will be protected, and they need to know their rights in this area. But we certainly do need to work on long term disability and life insurance in the future.
Harmon: My point about saying that GINA hasn't been tested yet is that GINA gives you the right, if you are discriminated against, to seek redress. But it doesn't mean that you're not going to be discriminated against. We also just need to be aware of that.
Kort: I just read about some state that wants to require insurance companies to pay for BRCA testing. What is the status of that in terms of insurance being offered or not offered for BRCA testing?
Rudnick: Just last week Illinois passed a law that Medicaid has to cover BRCA testing for high risk women who fit the profile, which is an amazing breakthrough. And I think it's the first state to do so.
In terms of Medicaid and Medicare coverage, it's not consistent across different states, and then in terms of insurance covering the test, that's also on a case-by-case basis, and many women — with very compelling family history — have had luck getting their insurance companies to cover BRCA testing. Myriad did do a lot of that work, as they will tell you. It was in their financial interest and they did really work with the insurance companies to get them to cover the test.
Kort: Now, this is somewhat of an aside, but Amy, in one of your articles in your DNA series there's a photo of Luis Pedraza and his son Joey, who has a rare genetic disorder. But Joey is also the son of Linda Pedraza, who is one of the BRCA women that Joanna follows in her film. Is this a coincidence?
Harmon: [LAUGHS] That was just a pure coincidence. Joanna and I had both run into Joey, who's this remarkable kid, and his father, who's a remarkable guy. There's no relation between Joey's condition and his mother's breast cancer.
Kort: But it's kind of a one-degree of separation between the two of you.
Harmon: [LAUGHS] It is. It was very strange.
Rudnick: Since Amy's article I have reached out to Deb Lindner, because my mother recently had a bilateral mastectomy, and I wanted to talk to an expert, and Deb is also in the Chicago area, so she was extremely helpful. So that's another connection that I got though Amy's article, that I was able to get some medical information from Deb.
Harmon: The article that you're referencing is really about families whose children have a very rare genetic disorder seeking each other out as a form of community, because otherwise they feel so isolated and so alone when their children are diagnosed with these very, very rare disorders, which is happening more and more frequently now because it's possible for physicians to zoom in on our chromosomes and see exactly what is causing a disability in a child, and what is the genetic basis for a particular form of disability. And I just thought it might be a point worth making because the BRCA community is such a strong and vibrant community, and it's really what I think of as the first community to be united on the basis of a genetic predisposition. There's a support group called FORCE, Facing Our Risk of Cancer Empowered. Right, Joanna?
Rudnick: Yes, exactly. And their website is www.facingourrisk.org.
Harmon: On that website, women, many of whom have never had cancer, but just know that they have the risk, are out there talking to each other, commiserating or collaborating or sharing information about what they're going to do [and] what their families have done. The same is the case now with these much more rare conditions that Joey has. So I just think that that is something that we're going to see more of, and it's one positive thing about learning this kind of genetic information. It can be a real burden, as we've been discussing, to have to face it and deal with it, but it also means that you can connect with other people who share a similar predisposition as you do.
Kort: So, last question Joanna, the question that people will ask, I think, at the end of the film, which is: when will you have the prophylactic operations? It's sort of clear in the film that you eventually will, but you are just practicing surveillance until then. Do you have any sort of age in mind when you might make that decision?
Rudnick: Absolutely. This is something I think about constantly, and I've talked to my family about. With my ovaries it's age 40. The physicians that I've talked to said that they have to be out by age 40. I'd like to have children, that's clear. I obviously have a very loud biological clock, both because I'm getting older and because I have this threat of ovarian cancer.
My mother was diagnosed at 43, and that's going to be a hard birthday. And I can't have ovaries then. So 40 is the deal that I've made with myself and my doctors, and I'm hoping that my body will cooperate, and I'm just watching myself very closely in the meantime.
And then with my breasts, I'm going to have surgery in the next few years. My mother just went through it. She went though it before me; she's called it her ticket to life. She was diagnosed with Stage I breast cancer. We caught it very early, she had surgery right away and has had the reconstruction. And I was with her and I was clearing her drains, and I've seen it up close now, and I feel much more ready to do the surgery. I'm just not ready right at this moment, and there have not been young breast cancers ever in my family, which may or may not mean anything to my life. I don't know. We don't know enough about these mutations to say that it does. So at this point I'm putting myself with everyone else in having that lifetime risk of 87 to 90 percent of getting breast cancer, and knowing that I have to have the surgery.
It's still a difficult decision for me, and I would be lying to say that it's easy. I don't think it's easy for any woman out there, but it's been particularly hard because I haven't seen as much breast cancer up close, and I think women who have and have seen the suffering and have seen it in their own lives immediately have a visceral reaction of "I need to avoid this right away." For me it's been harder because I've never had a relative that I've seen go through breast cancer, so in some ways I think, well, maybe it wouldn't happen to me till later, and it gives me maybe a false sense of security, which I realize.
But the breast question has been a difficult question and has plagued me throughout the making of the film and is still difficult. But again, I'm closer than I ever have been before, and I have a little more familial pressure than I ever had before because of what just happened with my mother, and my sister, who's my radiologist, says that I don't have a good MRI and my breasts are dense. It's still a struggle.
Kort: I wrote a book about the singer/songwriter Laura Nyro. Her mother died of ovarian cancer at age 49 and Laura Nyro died of ovarian cancer at age 49, and I think there was a grandmother and great aunt [who also died], and then this all happened right before the BRCA gene even came out. So in retrospect it's very poignant that the test did not exist for her.
Rudnick: Yeah. When you step back and think about how many lives this information is actually saving, and then on top of that how many people are actually being prevented from getting these horrible diseases and having children watch and go though this, it's a pretty incredible thing that we have this knowledge. It just sort of give me the chills to think about that. This really truly is improving our lives quite a bit.
Kort: Thank you Joanna Rudnick, for your film In the Family, a very powerful documentary about the BRCA mutation and how it's affected your life and those of others. And Amy Harmon, thank you for your fantastic Pulitzer Prize-winning series in the New York Times about the brave new world of DNA these days.