Interviewee

Rebekah Hamilton, PhD, RN, Department of Women, Children and Family Nursing at Rush University College of Nursing, Chicago, Illinois, USA

Article

Hamilton, R., Williams, J., Skirton, H., Bowers, B. (2009) Living with Genetic Test Results for Hereditary Breast and Ovarian Cancer, Journal of Nursing Scholarship, 2009; 41:3, 276-283

Summary

Genetic screening allows women to find out whether or not they carry high risk genes for developing breast or ovarian cancer in their thirties and forties. Most women who find that they do carry the genes, choose either frequent ultrasound, mammography and MRI monitoring, or to undergo surgery for breast or ovary removal, in an attempt to avoid cancer, but what are the psychosocial consequences of these screening and surgical procedures? This week, Michael Bouwman talks with Dr Rebekah Hamilton, who has found that women with high risk genes, continue to experience states of 'high alert', and are easily triggered into feeling vulnerable and worried, for years after their genetic testing. She says young women's treatment decisions are caught up in their decisions about relationships, children and career, with most women experiencing a sense of urgency about relationships and childbearing, and she has found that some women who choose surgery find that it affects their sexuality to a greater extent than they expected it would. Dr Hamilton recommends that clinicians and technicians become more aware of the special position these women are in, and refer them to people who can help them with decision-making.

Transcript

Michael Bouwman: I'm Michael Bouwman, and today I'm introducing Rebekah Hamilton, PhD, RN, College of Nursing, Rush University, Chicago, Illinois, USA. I am speaking with Rebekah about her study and article ‘Living with Genetic Test Results for Hereditary Breast and Ovarian Cancer', published in The Journal of Nursing Scholarship, and co-authored with others listed on our website. Would you like to begin this podcast with a brief overview of the gene mutation testing for individuals at risk of hereditary breast and ovarian cancer? Rebekah Hamilton: Ok, the two identified mutations for hereditary breast and ovarian cancer, are called the BRCA1 and 2, or sometimes are pronounced Brac O1 and 2. Basically what these mutations do, is they significantly increase an individual's risk for developing both breast and/or ovarian cancer. Statistics are really pretty remarkable, in that the accumulated cancer risk for individuals that have the BRCA1 mutation, the breast cancer risk is as high as 57%. For the BRCA2 it's 49%. And then for the ovarian cancer risk, it's different for each mutation as well, with BRAC2 mutation carriers they're a higher risk, as high as 40% that develop ovarian cancer. And the BRCA1 as high as 18%. Individuals that have these mutations have a much higher risk of developing these cancers than the general population. And the other, perhaps most significant thing about these mutations is that when women do develop the cancers, they tend to develop it at a much earlier age, in their 30's and 40's as opposed to after the age of 50, which is more common for sporadic cancers. The fact that they do develop younger obviously impacts women at an earlier stage in life, and you know, creates a lot of different issues. The younger women, ages 18 to 39, and some of the issues, that knowing that they have these mutations, what issues they raise and some of the decisions then that they face in terms of either increased surveillance, with mammography and breast MRI's, trans-vaginal ultrasounds for ovary surveillance, or they also have the choices of prophylactic surgeries, both of the breasts and of the ovaries. So, you know, these are major decisions, and particularly face it in younger years for younger women, they tend to get caught up in decisions about relationships and children, and having a family and career and those sorts of things. So it does raise different issues. Michael Bouwman: And your study uses a longitudinal framework in which you followed up participants sometime after receiving the genetic results. Participants responding to the knowledge of genetic vulnerability had an uneasy balance between being reassured and being on alert. What are the implications of this awareness?

Rebekah Hamilton: This I think was really, probably one of the interesting things of doing this type of study, where I talk to individuals closer to the time that they had their genetic testing, and then 3 1/2 to 4 years later. And the thing that we saw happen, is that, these women' never are not worried', it's a double negative you shouldn't say but, they're always thinking, the sense of risk is always present. It's always in the foreground for them. They can very quickly shift into a high state of alert. I had several interviews where a young woman, she'd known about her risk for several years, and she had done the increased surveillance and so forth, but she would hear a story then, about another young woman being diagnosed with breast cancer, and all of a sudden, her sense of risk and her sense of vulnerability, was really very heightened. And it can be very non-specific triggers. I mean, it doesn't really have to have anything to do with them per se. And so, as far as the implication of this awareness, number one, I think it never goes away for them. It takes very little for them to be tripped into a much higher state of alert and worry, about their own health, and they begin to lose a sense of trust in their own body. So, I think those are some of the implications; knowing about their risk and trying to balance this sense of being reassured, but also, it does put them in this state of higher alertness.

Michael Bouwman: Yes. Another implication, sexuality, or loss of sexuality, was a concern for many women. Could you talk about the impact a positive test screening had on this psycho-social aspect?

Rebekah Hamilton: On this question, I think we kind of need to think about the groups of participants that I interviewed. So, some of them were single women, you know, not in a relationship, didn’t have children. so obviously issues of sexuality, is a big issue. They become very aware of what they see is their difference from their peers. It tended to diminish their self confidence, you know, this idea of sort of getting out there and dating again, after they find out this information. Or, if they know they are at risk, and they made the choice to have prophylactic surgeries, I mean that's a very daunting thing to do. You know, now their breasts are not, quote, 'normal'. You know, they look different, they feel different. Typically, when women have their breasts removed in these types of surgeries, the nipple structure is also removed, so they don't have real nipples, they have like a tattooed nipple on. So, you know, they look different. They don't have the sensation, so the sexual arousal that can come from the breast is not present anymore. So it can have a very big impact on their sexuality, and that actually wasn't limited to the younger women. In my original study, I interviewed women over the age of 40. I mean one of them stated, if I knew the extent of the impact on my sexual response, I probably wouldn't have had this done.

Michael Bouwman: Right. And your participants also raised concerns relating to the risk of inherited disease for the next generation. Did this interfere with normal phases of the family life cycle?

Rebekah Hamilton: I don't really have too much data on the actual disruption of the family life cycle, but the data I do have certainly indicates that there's this increase sense of urgency, about having children, once they know they have this mutation. For example, a number of the young women that I interviewed had recently been married, and when they talked about having children, they said that they and their spouse had intended to have children but not so soon. Because part of the recommendations for these young women, are that they have a prophylactic oopherectomy, so they have their ovaries removed by the age of forty, or after their childbearing is complete. Well, when women are actually told this, what seems to happen is they have this sense that they really have to hurry up and have children. Even if they're in their mid to late twenties, it gives them this sense of urgency. For the unmarried women, there's this sense of, 'ok, we need to have children a little sooner than I thought we were going to have to do this. But, as you can imagine, for the women who are still single, it not only increases this sense of urgency about having children, but they didn't have a partner yet. I can certainly say that this sense of urgency was one of the more predominant findings.

Michael Bouwman: Understandably. Are there any other practical implications of your work, Rebekah?

Rebekah Hamilton: I think the thing that clinicians need to be aware of, is, how these young women are impacted in terms of how they perceive the choices they have to make. How they’re going to protect themselves from the development of cancer or the redevelopment of a second cancer, if they’ve already been diagnosed. So, they face the choice of this increased surveillance where they have a mammogram in the six month period, then a breast MRI. So these are all areas of increased surveillance that typically this age group doesn’t have to do at all. That in itself creates some difficulties for this age group in that, the clinicians sometimes are not sensitive to the fact that these young women really are in a different position. I had several participants who volunteered how hassled they were by radiograph tech’s, when they went in to get a mammogram. You know, they scoffed at them for being too young and their breasts being too dense, and wasting their time and money and so forth. So, again, an increased sensitivity that this is a special group. Young women that have this mutation really are at a significantly higher risk, and need to be assisted through these surveillance procedures, not hassled about them. The other side of that is, decision making in terms of whether or not they’re going to have these prophylactic surgeries, whether it’s a prophylactic mastectomy or prophylactic oopherectomy. I had very young women that chose both of those. I mean, I had as young as a twenty three year old choose prophylactic mastectomy, and I think the youngest woman I had who chose a prophylactic oopherectomy, was about twenty eight. That’s very young, and for a person like that to be flipped into instant menopause has significant consequences. Again, understanding that these young women need information, clinicians need to understand that they often carry with them a very significant family history of either breast or ovarian cancer that greatly impacts their own perceived risk. In our conversations with them, being certain that they understand that, if they’re in the twenties, the risk of developing cancer is relatively low, and in their thirties, it actually begins to increase but, you know, it’s not a 100% kind of thing. So, supporting them, in the decisions that they make, helping them think through the decision, and certainly from a nursing standpoint, making sure that the right consultations are made. And referring them to individuals that can help them make the decisions that they face.

Michael Bouwman: Well thank you very much for speaking with IPP-SHR Podcasts on this important topic.

Rebekah Hamilton: Thank you, Michael.

Podcast Keywords

genetic test results, cancer