Sample

Of the 30 women invited, 23 (76.6%) initially consented to be included. One patient later cancelled her interview. Therefore, individual in-depth interviews were conducted with 22 patients (73.3%), 11 from the university hospital and 11 from the regional hospital. One participant had tested positive for a BRCA2 pathogenic variant. The remaining patients had received normal test results. See Table 1 for more detailed information about the sample.

Ethics approval and consent to participate

The study was defined as a quality-of-care study and approved by the data protection officers at the two hospitals included in the study and at OUH.

All participants consented to inclusion in the study and were able to withdraw at any time. Audio files were stored on the secure server of OUH for deletion upon completion of the study. All participants are pseudonymised in the present material. Quotes have been modified to improve flow without changing the content.

Results of the thematic analysis

The main objective of this study has been to investigate the BC patients’ experience of mainstreamed genetic testing. This experience was closely linked to and affected by their experience of being diagnosed with and treated for BC itself; hence this too is to some extent included in this thematic analysis. Three core themes and several subthemes have been identified. The themes include: (1) informational and communicational needs and challenges during a chaotic time, (2) the value of diagnostic genetic testing (3) and the importance of standardised routines for mainstreamed genetic testing.

Theme 1: informational and communicational needs and challenges during a chaotic time

Information and communication were recurrent themes in many of the women’s experience of BC diagnosis, treatment and genetic testing. The participants described in detail the shock and acute psychological stress of being diagnosed with BC and how it simultaneously created a need for information and made it difficult to absorb and remember information. Their experience with information and communication regarding genetic testing were closely linked to how information and communication regarding breast cancer was perceived. A feeling of trust in their healthcare providers facilitated communication.

Subtheme: the shock of being diagnosed with breast cancer created both a need for information and an obstacle to absorbing information

The participants underwent different forms of BC treatment, ranging from breast-conserving surgery to combined surgery, chemotherapy and radiation treatment. Despite these differences, many of them said that being diagnosed with BC was a shocking and overwhelming experience. “Susan” described the day she received her diagnosis as follows:

[A] nd they took a biopsy, and then I came to the surgeon, and I don’t remember anything of that really, and what happened there. And then I left the hospital like some sort of a mummy, I think, with the certainty that I had cancer.

Many expressed being overwhelmed by fear and insecurity. They went into their own bubble filled with worry about their own life and future and for their daughters or sisters. Many described themselves as having a “cotton-head”. They talked about receiving a lot of information about their diagnosis and treatment and how it was difficult, almost impossible, for them to take in and remember information. As “June” puts it:

When you are in the middle of a situation like that, maybe you have just had surgery, you have many thoughts in your head, and you don’t remember what’s been said to you. I hardly remember anything from the day I was diagnosed. I just remember that I felt really sad.

Some of the women reported avoiding information, but many said that despite their difficulties remembering, they still felt a great need for information in order to navigate this new situation. However, this information had to be presented by people they trusted. Finding information on the internet could often lead to more questions and fear. Information was seen as a way of gaining control over the situation and reducing their fear and insecurity. “Anne”, who was 41 at the time of her diagnosis, described her experience as follows:

I was very clear with them that I wanted to know all I could know, and that I didn’t know anything. They were very clear about telling me “Don’t Google,” but then I said, “Then you have to answer all my questions, because otherwise I will Google,” and you know that when you Google you always end up finding scary things or negative things or … .

Subtheme: informational needs and challenges regarding genetic testing

Some of the participants had been thoroughly informed by their doctor about the consequences of a positive test result in terms of the risk of a new case of breast and/or ovarian cancer. They valued this conversation, the way the surgeon or oncologist communicated with them and the fact that the doctor had taken the time to discuss it with them. However, most of the participants said either that they could not remember being informed specifically about these issues or that they had not been informed. They knew that the aim of the test was to investigate whether their cancer was hereditary but they had not been informed of any other details. Most of these participants said that they were happy and content with the way the test had been offered, with some emphasising that the most important thing was being offered the test. As “Joan” states:

They just asked whether I was interested in knowing whether it was a hereditary form of cancer that I had. And there was no doubt in my mind. Of course, I wanted to know …. So, it was fine. It was no problem.... I didn’t feel.... I just thought it was a good thing … that they actually brought it up.

A few of the participants felt they had not been given enough information about the test. These women also expressed general frustration with the lack of information about their diagnosis and treatment.

“Sylvia” described feeling like she was on an assembly line where there was no time to inform her the way that she felt she needed to be informed:

To me it [the information about genetic testing] was just a small sentence in the information about chemotherapy and the plan for the rest of my treatment. It was. Because the only thing I was informed of when I had surgery was that because you have had a lumpectomy you will have five weeks of radiation therapy”.

At the same time, it was hard for her to identify the kind of information she missed out on because, as she puts it:

The ignorant doesn’t know what to ask about.

When asked what information about genetic testing they thought should be provided and how it should be provided, two of the participants said that they did not want information about potential consequences before it became a reality. However, a majority of the participants thought that it would be useful to be informed about what would happen if they tested positive for a BRCA mutation. At the same time, they were all aware of their own challenges and limitations when it came to remembering information while they were in such a chaotic state and that it was difficult to provide patients with information at this stage. “Mary” puts it like this:

It is important to be aware that the patient is not thinking clearly.

Because of the difficulties they had remembering what had been said to them, they emphasised how important it was to receive written information. Written information was perceived as a safety net and something they could always go back to. Those who had someone accompanying them to appointments at the hospital emphasised how helpful this had been. The companion was able to help them remember and interpret what had been said.

Subtheme: trust and confidence in the healthcare provider facilitates communication

Many of the participants spoke very warmly of the doctors and nurses they met during their treatment. They talked about being seen and met as a person and how important that had been to them. Many of them also described how much they had trusted their surgeon or oncologist’s competence and how this had made them feel safe and reassured. For “Elizabeth”, the offer of genetic testing itself demonstrated that she could trust in the competence of her doctors:

I thought it [being offered testing] was a very good thing, and a reassuring thing. The more you feel that doctors know, the safer you feel really.

For some, this underlying trust also made it easier to communicate and take in information about genetic testing. One participant said she felt completely relaxed after receiving information from her surgeon about genetic testing and the consequences of a positive test result. “Sheila” felt her surgeon had found the key to communicating about genetic testing:

My surgeon had the right combination of knowledge, empathy and seriousness, as well as optimism, a smile and warmth. There must be some warmth in there. You cannot be an ice-cold person ... and show that you think this [genetic testing] is difficult. That is a bad solution.

Some also said that when they trusted their doctors, they did not need detailed information about all aspects of treatment or genetic testing.

Theme 2: the value of diagnostic genetic testing

All of the participants indicated that genetic testing had been important to them. They saw the test as an important part of their cancer treatment and an opportunity to obtain information that could help protect their children and other close relatives. Some expressed mixed feelings over a normal test result.

Subtheme: genetic testing as an important part of cancer treatment

Following the shock and fear and all of the questions associated with a BC diagnosis, the genetic test was regarded as a way of getting more information and clarity within a chaotic situation. Some of the women were aware of the potential consequences a positive test result might have for surgical decision-making, but most of the women did not. The test was nevertheless seen as an opportunity for the doctors to get important information about their tumour that could be used to guide treatment. “Anne” describes it like this:

To me personally, it was important. I want as much information as possible and as much clarity as possible about …. what this disease means for me.

Only one of the participants, “Ruth”, expressed some mixed feelings about the genetic test:

I said yes right away. But afterwards I thought, “Oh, I can’t really take any more. Because I am so afraid of the answer that I will get. But I must do this.” So, I thought a bit more about it after I had said yes, but then I thought, “I’ll just do it. It is important that I do it.”

Subtheme: feelings of responsibility for children and other relatives

Most of the participants indicated that their main motivation for undergoing genetic testing was their concern for their close relatives, especially their daughters. They were worried about their relatives’ risk of BC following their own diagnosis: the thought of these relatives, and especially their daughters, being at increased risk of cancer was frightening. For many of the women, these thoughts came shortly after diagnosis. Many of the participants had reflected a great deal upon the different types of impact that a positive test result could have on their daughters’ lives. They said that they saw the genetic test as an opportunity to obtain important information that could protect them, and that the positive effect of being able to prevent cancer clearly outweighed the burden of living with knowledge of the risk. “Melissa” had thought a lot about this:

If it turns out that it is hereditary, and it turns out that your daughter also has it, then there are some choices she has to make in her life, right? That she has to consider, that are quite serious. But they can do things that will prevent cancer from happening, and they don’t have to go through this treatment, which in a way also can affect the rest of your life. I have talked to others who say, “Why? … Life is a lottery, and if you were to have this hanging over your head it would be a burden if she got to know that she ….” So, have I... That has swirled around too, but I think that I would have given her an advantage anyway.

“Hannah”, who was identified as having a pathogenic mutation in BRCA2, put her thoughts about her children like this:

And it was ... but I have to say that when I was told that it was a genetic defect, I think it was tough ... and now I might get a bit teary-eyed. But it’s mostly with the children in mind …. And I was afraid they would develop cancer. But then ... [coughs and sniffs], but then they were really ... I really thought we were quite lucky.... Because if they have ... the genetic defect, then they get a much better follow-up than if they had not been tested, right? So, it might prevent their maybe having to go through chemotherapy and things like that … .

Subtheme: mixed feelings over a normal test result

A few of the participants had worried about their results and some thought the waiting time for the results was too long. However, most of the participants did not think it was particularly difficult waiting for the test results because they were mainly occupied with their cancer treatment. As “Mary” puts it:

There are so many things you think about. How will it be for your family? Will you survive? What will chemotherapy be like? So, the genetic test … I didn’t think about it at all before I had the test results and they were negative. Then I was relieved, of course. But I think it is worse not to get it [the genetic test]. Because then you can wonder for a long time, “What if I had gotten the test? Maybe I would have received another form of treatment? Maybe things would have been different?”

All but one of the participants had normal test results. They were relieved that they had tested negative, for themselves, of course, but especially for their daughters. Even though they were happy that they did not have a BRCA1/2 mutation, a couple of the women said that they sometimes wished they had been identified as mutation carriers. If they had tested positive, then they would have been entitled to a risk-reducing mastectomy and would not have had to worry about developing BC a second time. “Melissa” said that it would have helped her to explain why she had developed BC at such a young age.

For a period I almost wished that it was ... that I had the mutation.... Because then ... then it wasn’t my fault, or I couldn’t have caused it, if you know what I mean. Then it would have been the mutation that caused it.... There were many such thoughts of why in the beginning.

Theme 3: the importance of standardised routines for mainstreamed genetic testing

When asked, all of the participants said that every BC patient should be offered genetic testing by their treating physician. Two of the participants said that it should be mandatory, just something that the surgeon or oncologist ordered, but the other participants said that it should be offered with the option to accept or decline. They emphasised the importance of standardised routines to ensure that patients were given the opportunity to be tested, but they had different views about when it should be offered. Some said “the sooner, the better”, whereas others said that it could be too much to take in at the time of their diagnosis. One participant said that it should be offered before chemotherapy because of the negative side effect this treatment has on memory and concentration. However, all of the participants said that if the results would have a bearing on treatment decisions, the offer of a genetic test needed to be given at diagnosis or shortly thereafter. If the test result might have an impact on their treatment, then undergoing the test in good time was the most important issue to be addressed. None of the participants thought that testing should be postponed until after treatment had been completed.

There was great variation in the participants’ stories of how and when they were offered testing, how much information they received before the test and how they received the test results. Most of them had been offered the test but six had asked for it themselves. Two were not sure whether they would have been offered the test if they had not asked for it. “Alyson” did not think about it at the time but later she reflected on the fact that she had had to ask for the test:

In retrospect, I’ve been thinking that when it concerns everyone, and not just me who was so inform, I think it should be an offer that came to me, or at least that you got information that there was a possibility of having a genetic test.

She recognised that BC patients might not all think the same way about whether or not they wanted to be tested, but she emphasised the importance of having a reliable system for this health service in terms of both the test being offered to BC patients and the information they received.

“Melissa” was diagnosed with BC at 38 years of age. She had raised the question of genetic testing during radiation treatment and had to ask for the test result six months later. She was very aware of the potential consequences of having an undetected mutation and how important it was to have reliable routines for genetic testing:

I think that the danger of not having a system for genetic testing is that I might have missed such an offer if I hadn’t been aware of it myself and asked for it. Then I would have learned about it afterwards that it was an offer that I was entitled to, that I didn’t get. To me that would not have been OK. I mean, you want to have all you can get in terms of follow-up and treatment.

Her experience also led to feelings of uncertainty. It affected her trust in the test results: she feared that the doctor might have misinterpreted the result or maybe did not have enough genetic knowledge. She also said that it negatively affected her trust in the healthcare system more generally:

It does something to the trust. There is something about the trust in the one who has promised you something, and then it doesn’t happen. It is unfortunately something that affects your trust in other doctors in other situations.