Table 2.
Quotes supporting the results.
| Code | Quote |
|---|---|
| Q1 | “If they hadn’t done the test, we would only speculate, do I have it, do I not have it, and eh, well, in that case, that’s when fear would actually be present. And now, it’s just normal […] and I, I think knowledge is always important.” (Nick, 50+, healthy carrier) |
| Q2 | “So now it’s like a bit… now I can say, well it’s fate, maybe I will get it [cancer], maybe not. Ehm, I don’t have it in my hands, it is as it is then. And if I tested myself, yes then I’d have a little, yes… I’d be a little more in charge again, although I perhaps couldn’t change anything but… um, nevertheless, I knew it…” (Lea, 30+, untested) |
| Q3 | “[…] I prefer to be informed, I prefer to know if there is something […]. Once I know that there might be something, once I’m told, do you want to know if there is a mutation on that gene, I could no longer say no I don’t want to know.” (Claire, affected non-carrier) |
| Q4 | “Research in the genetic field will be massively improved in the coming years. Well, probably. […] Maybe there will be much better answers in 5, 10 years if you do such a genetic examination because you can take in many more factors, many more influencing factors… And then there will probably be a better answer. And as soon as there is a better answer, I will probably reconsider it [genetic testing].” (Doris, 40+, untested) |
| Q5 | “I won’t do the genetic test. [Because, after the genetic consultation], I thought again about the different aspects of the conversation. What are the results I could really get, specifically, from this genetic test. And namely, results with 100% certainty, so I thought about the certainty the test could provide me with. Or does it give me more uncertainty […] Would it really give me watertight answers. There might be other influencing factors, too. So regarding breast cancer, I couldn’t get it off my mind after all, even if I had a negative genetic test result.” (Doris, 40+, untested) |
| Q6 | “I then got counselling and listened to it all and thought about it, but then I decided against testing at that point. Because of my age. I was still younger than 40 at that time, and I just consciously wanted to take the time, wait until I was 40 and then I can bear the consequences of the test, and until then I just don’t want to know. So I’ve been really, I’ve received good counselling about what are the consequences, what are the advantages, the disadvantages, of this test.” (Daria, 40+, non-carrier) |
| Q7 | “My main consideration […] is how the awareness [of knowing a genetic disease risk] would affect my decisions in life, actually. […] If having the mutation affects my decisions because of a certain sense of responsibility or something, which I would not do of my own free will.” (Aaron, 20+, carrier) |
| Q8 | “Had I been a carrier, I’d have had the surgeries. […] That’s what I’d have done. If there is no such consequence for people I think them doing the test isn’t so important, but for me, that would have been an obvious consequence.” (Silvia, 30+, non-carrier) |
| Q9 | “So I think they [her two daughters] got tested simply because I said so, I think they didn’t know what it meant at the beginning. Because everything was going so fast… I think I overwhelmed them a little bit, to be honest. Well, I don’t regret that, I think it’s important. I also think it’s important that they just watch it afterwards. And are made aware of it.” (Hanna, 50+, affected carrier) |
| Q10 | “I was talking to my mother during the testing process, and otherwise I didn’t really need anybody… I knew what I did, I knew what I was getting into, I knew… what the consequences would be, and so on. Yes.” (Marissa, 50+, healthy) |
| Q11 | “Well, the human psychological aspect, […] I didn’t think that it would have such an impact, I wouldn’t have thought of that, suddenly it came. Over time, when I started to think a little bit.” (Erich, 60+, non-carrier) |
| Q12 | “I pay attention [to protecting my genetic data], yes, but it’s not like it has greatly influenced my decision to do genetic testing.” (Aaron, 20+, carrier) |
| Q13 | “At Cancer Aid, they told me that I would have difficulties insuring myself privately or semi-privately, that health insurance would refuse me because of the carrier test result. Yes, and that was in my head, and then I thought well, I try it anyway, and then, after the genetic consultation it was actually clear to me how to do it. I also asked for the legal text, that was sent to me by the geneticist… And then I called the health insurance company and said that I would like to change my insurance, that I had this problem. Eh, saying that there was the no-discrimination act, sending them all the information. It took about three weeks, and then they agreed, without reservation, without anything.” (Nick, 50+, healthy carrier) |
| Q14 | “But getting this information when you can’t do anything about it anyway. I think I… I don’t want this. Even though I agreed [to genetic testing]. That only occurred to me later. Interviewer: And why did you accept [genetic testing]? Participant: I don’t know! I usually decide spontaneously and think about it afterwards […] Interviewer: And did you consider stopping the process of testing? Participant: No. At home, my wife and daughter have really (laughs) taken sides and said, listen, it is not just for you. It’s for your daughter as well.” (Erich, 60+, non-carrier) |
| Q15 | “Em, but… [if I hadn’t done the genetic test] it would have been a bit like, I couldn’t have taken part in certain things because… If I hadn’t done it, I wouldn’t have known, am I positive or not? […] That’s why it’s actually, yes… I’ve actually wanted to know… uh… yes, how is it for me now, so that I simply know, am I in their group or am I, am I outside.” (Eva, 40+, healthy carrier) |
| Q16 | “I for myself, if my daughter hadn’t asked me because she wanted to know that, I would not have done counselling in that sense. That’s, really, first and foremost for my daughters.” (Emily, 60+, non-carrier) |
| Q17 | “It wouldn’t have left me alone to be told it [genetic testing] would be recommended […] Then I’d preferred not to be told at all, see, now that is coming up again! If they wouldn’t have told me anything, just said, well, we have taken out your cancer now, […] now do these check-ups every five years - have a nice day. That would have been fine for me, yes, that would have been fine with me that alternative that they don’t tell me about genetic testing…” (Erich, 60+, non-carrier) |
| Q18 | “For me, it’s simply a derivation of fate - not fate, but human… needs, so if anything happens and… one lives shorter, or someone else could have protected himself and could not do it, that is careless towards their environment, in my opinion. If my sister died early, and her child lost her mother early, that would not be so cool.” (Rolf, 50+, carrier) |
| Q19 | “Well, for one [sister], it was simply because of the economic expense. If she goes to the gynaecologist twice a year and hasn’t clarified the source of the problem beforehand then she does something useless. This is unnecessary and simply burdens the economy.” (Rolf, 50+, carrier) |
| Q20 | “Yeah, well, if the doctor tells me anything, I’ll do it anyway, won’t I?” (Gloria, 60+) |
| Q21 | “The geneticist knew that I came from the medical field, and then it often happens, you notice that people say, ah you already know that anyway, but he still did it very professionally and as if I was a layperson, I liked that.” (Silvia, 30+, non-carrier) |
| Q22 | “Well, I’d be cautious… to discuss something like this with others. Because […] I would get into a defensive position. […] To defend myself would not be so pleasant. Yes, I decided that way, that’s the way it is, and I wouldn’t want to defend it now.” (Doris, 40+, untested) |
| Q23 | “Well, in the first moment I was completely against it, I didn’t even want to know anything about it, I didn’t even want to think about it. And only after a certain amount of time I remembered it again, when the gynaecologist asked me about it, and then it went around in my head a bit. I also weighed up the advantages and disadvantages, what would happen if I would, or what would it mean, what would be the consequences, and then, yes, no, I don’t want to… And what would be the reasons why I might do it after all… It has been a bit of a back and forth, but the tendency has always been more towards I don’t want to know it.” (Lea, 30+, untested) |
| Q24 | “Yes, I think I already made the decision before the counselling session… And, I don’t know what they could have told me that would have changed my opinion.” (Lea, 30+, untested) |
| Q25 | “Well, in the end, it doesn’t matter what the percentages are… Either I get it or I don’t. Somehow it is always 50:50.” (Daria, 40+, non-carrier) |
| Q26 | “With a genetic cancer predisposition, I feel like, it’s fate somehow, you just wait for the moment it strikes, and no matter what I do… it is predetermined. Yes.” (Lea, 30+, untested) |
| Q27 | “Internally, I anyway expected that it was just a strong family history. If I had feared a genetic cause, I would probably have reacted earlier.” Interviewer: “So you didn’t expect the detection of a genetic cause…” Participant: “Yeah, or… it was more towards the direction that they would not find anything. But that doesn’t necessarily mean that is the case, some perceptions are just repressed easily, aren’t they?” (Emily, 60+, non-carrier) |
| Q28 | “Rationally, the probability of a finding was not very high […] I saw it black on white when going through the pedigree [with the counselling physician]. I’d say I have a big family […] and there are some cases of cancer that alerted me at first, but the majority is healthy. And that is why… Yes, the probability [to detect a function-affecting genetic variant] was reduced due to the many healthy people in my family.” (Doris, 40+, untested) |
| Q29 | “But, so for me, it was clear that there had to be something genetic because… Well, we had to find a cause. […] Well, once I got these results… I could hardly believe it, I was eh, yes, so eh, well, there were no mutations, I, I was really… But I immediately, immediately it came back to me, but, but… what is it then? So there’s another one, there must be something else there!” (Claire, affected non-carrier) |
All names are pseudonyms. The quotes are referred to in the text by the codes in the left column. “Carrier” means being positively tested for a function-affecting genetic variant; “non-carrier” refers to a test result of non-pathogenic variant or a variant of uncertain significance. “Untested” means the person decided against genetic testing. The participants referred to a function-altering genetic variant when using the term “mutation”.