Family Choices about Genetic Testing
People with inherited cancer risk or cancer are often quite concerned, once they receive their own diagnosis, about whether biologically related family members should get tested to see if they too may be affected. For relatives who are adults, decisions about testing may well be made independently, however those whose risk is already identified can have an influence. For children, things can be more complicated. Professional societies have created guidance about genetic testing of children for conditions that arise later in life, and for which there is no medical benefit to knowing during childhood. But decisions about the testing of young children for at least some kinds of hereditary cancer risk, for example, polyposis syndromes, may be up to parents. This part of the website explores what people we interviewed had to say about these issues. In order to protect the privacy of interviewees’ family members - who may not themselves be fully informed about testing and who were not asked for consent to share information on this website - we are not sharing any names, faces, voices or videos in this page.
Children and Testing Decisions
Many people we interviewed described having strong emotions about the impact that hereditary cancer risk might have or was having on their children. Many become tearful, angry, or visibly anxious as they talked about this tender issue. One person said seeing images of children in the hospital setting made him angry, “especially when [I] have a child that’s going through it.” Others referred to how “emotionally hurtful” the prospect of testing could be, to the “rough day” they had getting through it, or to “crying inside” when the topic came up during doctor visits.
One parent describes realizing that “hereditary” means his child might also have increased risk.
One parent describes realizing that “hereditary” means his child might also have increased risk.
So while I was there [with the doctor], the minute she said that it was hereditary and that my mother passed it down to me, I immediately, immediately on the inside, just started crying. Because I knew one of my sons, watch it be him. Watch it be him, the one sitting right next to me at the time. And she looked at me and she said, “We've got to do a test on your son.” After I gave her all the history of my mother passing it to me, her sister passed away from it. My first cousin has it, she has it. My brother, he was the first one to get a lymph node under his arm. And he went through chemo and everything, and he's fine now. My father, the best way I can describe it is like somebody developed a cancer bomb, and put it in him and waited for it to explode. That's how bad he had it. And then my sister, breast cancer. She passed away. So with all of this in front of me, and I'm listening to her telling me that it's hereditary. And then I look at my son. So we waited for his test to come back. And his test came back positive that he has it, too. So from there, for me, it was just all about, what do I do now?
Another person talks about guilt between the generations in his family.
Another person talks about guilt between the generations in his family.
It's also tough psychologically, as a parent, that like my mother, all three of her kids had it. So she has this idea that she made us sick. Or, you know, so she bears some-- she feels a weight of responsibility for this, even though none of us blame her. And, you know, we know, logically, that she doesn't bear any responsibility for it. But I understand, now that I'm a parent-- I understand, if my daughter had the mutation, I would feel the same way.
Many people we interviewed described timing as a significant factor in decisions about testing children. Several people talked about how having nephews or nieces tested was a motivator to have one's own children tested. Sometimes timing was based on the age of the youngest person in that family who had gotten a cancer diagnosis. A number of parents described their intention to test young children later on. Others spoke about bringing younger children on their own doctor visits so they can “ask questions, understand the process, [and]... make informed decisions” later on in life. One parent described how she and her partner kept delaying talking with their teenage children about testing because “there’s not going to be a good time” in the midst of graduations and growing up, but eventually they found “an organic” moment to move forward. Another noted that her young adult child has refused testing so far but might want it when ready to in turn have children. Yet another described how his children, as well as multiple nieces and nephews, were all tested at once.
One mother decided against prenatal genetic testing for mutations that increase risk for breast cancer; she says she plans on getting her daughter tested, but not yet.
One mother decided against prenatal genetic testing for mutations that increase risk for breast cancer; she says she plans on getting her daughter tested, but not yet.
So she has a 50% chance of testing positive... Of course, right when I found out I was having a girl, that's the first thing-- one of the first things I thought about, unfortunately. It's something that, I mean, as I've said before, I feel like I'm actually better off knowing because I'm so aware of it, and it's on my radar, and she will be aware of it, and it'll be on her radar. I do plan on getting her tested, obviously. My husband and I have talked about, I think we're going to wait because we just don't want to, she's too young. There was a way you could do it, you know, before she was even born, and I was like, I'm not risking any of that just for a gene, you know? But, I'm going to hopefully provide her with all the information that I've been provided with, and she'll have great doctors if it does come out that she's positive and she can make her own decisions.
Another parent describes how her daughter and nieces are themselves thinking about the right time to test.
Another parent describes how her daughter and nieces are themselves thinking about the right time to test.
[My daughter] has not been tested yet. Because of the mere fact of the family history she can do the early mammograms and have insurance cover it without having that genetic test done. And the one thing I think that her generation, you know, my nieces and her, seem to be weighing is, when is the right time to have that testing done and have that be on your medical record for the rest of your life? Because you might want to buy life insurance or, you know, engage in other things that might, at some point, if that's on your medical record, hinder you from being able to or make it at least affordable.
Children’s Test Results
Some people we interviewed not only talked about decisions regarding screening for their children but also about the results of those tests. Parents of children who tested negative described feeling thankful in general and relieved that their kids had been saved the difficulty of increased cancer screening starting at a young age. A number of parents talked about dynamics within the family when some members of the younger generation test negative, and others positive. Other interviewees focused on the implications for their children testing positive, including the need for frequent follow-up, recommendations that intensive screening begin as young as age 10 (in the case of some polyposis syndromes or very early onset cancers), and the possibility of prophylactic surgery.
One parent talks about what it was like having one child test positive, and the other negative.
One parent talks about what it was like having one child test positive, and the other negative.
So this has come up with some other people that we've talked to. It's not quite as, but learning that-- like you have one daughter who has and the other who doesn't. How does that feel, and like for you?... Is there, is there an issue between the girls?
No, I don't think there is. I don't think there is. I mean, for us as parents, there's like, there’s relief. And then there's like, oh, you know, one of them has to deal with it, kind of thing. It’s kind of, you don't hope both have it or. But it's kind of like all or nothing, is that easier? But that's the way it works out. And that's what it is. But there's not an issue. You know, between my wife and I, we kind of feel like our daughter that has the mutation is the one that has the personality to deal with it better. So in a way, that's a blessing...And then my kids just have a great outlook on it, too. I mean, the one that has Lynch syndrome has a tremendous attitude around it, and rolls with it.... And we were cautious to make sure that she's not, it's not a coping mechanism type of thing. But she seems, she seems to truly just kind of go with it, and understand that it's part of who she is. And in our family, you know, Christian faith is significant. And it's who God made her.
Another parent describes conflicting medical advice about when and whether her adult child should consider prophylactic surgery.
Another parent describes conflicting medical advice about when and whether her adult child should consider prophylactic surgery.
But there's a lot of concern out there right now about-- for instance, my daughter. As soon as she has a family, should she immediately have prophylactic surgery? I don't know. The guidelines will tell you that. And most doctors will probably tell you that. But I also have talked with other people who have delved more into the research behind things. And when you look at the increased risk for endometrial cancer and ovarian cancer, is it really worth the trade-off of having a complete hysterectomy and being a slave to hormones, or perhaps a change in your mental state for the rest of your life when you're in your 30s?
A third interviewee describes how emotional it was to learn her daughter tested positive for Lynch.
A third interviewee describes how emotional it was to learn her daughter tested positive for Lynch.
My oldest daughter... decided last summer, I believe, but within the last year, to be tested for Lynch syndrome. And now I'll probably cry, [voice breaking] because she does have it. And that was the one time. It was like, I didn't mind that I had it. But I was hoping it would end with me. But it didn't. So she has it. So, we both cried. And I went with her to her genetic counselor. And she's already had a colonoscopy. And she became pregnant after that, had decided they had been wanting to start a family. So, luckily, she is due in August, but has been told that once they are done having a family that she will have a hysterectomy, just of the uterus and fallopian tubes. And then I think three or five years later, they'll do her ovaries.
Other Family Members and Testing Decisions
A number of people we interviewed described on-going conversations and complex feelings about testing for siblings. When siblings did get tested, there was huge relief when receiving negative results. After positive results, in some families there was a process of banding together. One person we interviewed, for example, described how after getting one person’s diagnosis, the other siblings got tested all at once. Several people spoke about “heated debates” with siblings reluctant to get tested, or about their on-going efforts to convince brothers or sisters to get it done, conversations which were sometimes “very frustrating” or “not pretty.”
One person says she wishes she could change her sisters’ decisions not to test for increased breast cancer risk.
One person says she wishes she could change her sisters’ decisions not to test for increased breast cancer risk.
And, and I have two sisters who don't-- who won't test, and don't know, or don't want to understand the significance of BRCA. OK, the significance to me of BRCA2 is, if you know that you have it, you can protect yourself from death, from potentially dying. If we know that BRCA gives you a 60% to 80% chance of getting breast cancer, we know that there's preventive measures, at least for breast cancer. You could do the mammogram and the MRI. But to choose not to test, is what I'd like to change. That's what I'd like this to change is to get people to understand that-- I think they don't test because we think that everything is fine without testing. “Why should I? I'm fine.” But if you test, you can keep yourself alive by doing preventive measures. And I think keeping yourself alive is more important...Yeah, it hasn't made any difference to them in terms of, “Oh, I should check this out.” They know that our mother and her sister both had breast cancer. They know that I've tested positive. They know that the chances of them testing positive are 50:50. But it hasn't made any difference to them. They've seen me go through this, and they've seen me come out the other side. So I don't believe it's made any difference for them because if it had made a difference, what I would have seen is them thinking, “Wow, it's important for me to test because then I can stay alive for my kids, by doing some preventive measures.” They're both above menopause. They don't need those things-- the ovaries. So it hasn't changed their perception of what they should do at all.
Another keeps pushing his brother to reconsider the decision not to test.
Another keeps pushing his brother to reconsider the decision not to test.
I have encouraged him to get tested. I think that it's important to know if you have a higher risk of getting certain cancers, just because, in our family, the risk of cancer is high, I mean, on both sides. So, it, for me, it's just imperative to know. I would want to know. I would want my children to know. And as we're getting older, you know, with partners, that's a risk of passing it along. So I've encouraged him to do it. And we haven't really talked about all the implications of, like, because he knows what it is, and what it means. But I just, you know, keep kind of pushing him, “you should go get tested just so that you know. So that moving forward, you can kind of try and prepare.” We're just trying to minimize risk.
A few or our interviewees described feeling protective of siblings, cousins, parents or others. One said she didn’t want relatives to worry that just because she had cancer, they are “going to get cancer now.” Another noted that if her parents proceeded with testing they would “flip” and “feel bad” because then it would be clear who had passed on the increased cancer risk, so she “doesn’t harp” on the possibility of testing. A third described how her parents did in fact get tested after she herself received a cancer diagnosis at a young age, and the one who got positive results felt terribly guilty. A few people mentioned lack of insurance coverage, extensive paperwork necessary for insurance approval, or simply “not being in a financial position” to do the procedure as reasons why family members were discouraged from testing.
Uncertainty and Learning
A number of people in our study talked about how family members’ testing produced additional information, or raised additional questions, about which risk-elevating genetic mutations run in the family. One person’s siblings, who were tested after she herself had been diagnosed, has not only the same risk-elevating mutation but additional ones as well. Another described the short-term uncertainty she experienced while waiting for results of her children’s genetic tests.
One interviewee describes how testing of the younger generation was tailored after producing a genetic profile of adults who have the risk-increasing mutation.
One interviewee describes how testing of the younger generation was tailored after producing a genetic profile of adults who have the risk-increasing mutation.
So we had a genetic profile done, being that they tested us adults who had the mutation so they could see, you know, where the mutation was. And then they tested the children to look for the same mutation. And some had it and some did not.
Another talks about living with uncertainty as she awaits her children’s genetic test results.
Another talks about living with uncertainty as she awaits her children’s genetic test results.
I don’t want them to go through what I went through. I mean, you have to be strong [INAUDIBLE]-- not that my kids aren't strong, it's just that they're young, and sometimes I feel bad, because it’s like, if they do come positive, I gave that to you. You know, so-- I pray that they don't have it, and that's what I'm trying to believe, that they won't have it. I mean, I know it's hereditary, but I'm hoping their kids' will have it, and then by that time, they'll have a cure, you know, three or four generations down, and it's just as simple as a shot or something. So, it's hard when, like they said, it takes two weeks. And it's really hard. You know, I don't want any of them, one of them, two of them-- so it's very difficult.
Yeah. How do you live with that uncertainty right now?
I don't know. I just-- I try to just put it in the back of my head. I try not to think about it. I try not to let it consume me, because I may work myself up and, you know, have an anxiety attack. And they may not even have it, so I try to keep my-- I try to put it in the back of my head and try to keep my stress level down, because stress can make my colon turn and, you know, it’s like when they need me, you know, and I can't be scaring them. Actually, I don't want to scare them.