Birgit
Birgit took part in the 100,000 Genomes Project when she started treatment for breast cancer. She was keen to be involved as she is “all for research” and hopes that this can help improve health outcomes.
Birgit is married with two children aged 9 and 12. She works part-time as a social worker. She is white German.
More about me...
Birgit was diagnosed with breast cancer in October 2016. She had always suspected she might get breast cancer, because both her maternal grandmother and great grandmother had breast cancer. She received some genetic counselling in the past; however she was never referred for further BRCA gene testing.
Once she was diagnosed, Birgit was very keen to begin her treatment as soon as possible. She pushed for a mastectomy which she had shortly after her diagnosis.
During her treatment, she was approached by the breast care nurse who asked her whether she wanted to be involved in the 100,000 Genomes Project. The nurse briefed her and gave her information leaflets which explained the details of the project. Birgit was eager to get involved, saying “I’m all for research”. She was ready to sign up as soon as she was approached, however the nurse urged her to go home and think about it properly. Birgit found the information provided was clear and she found it re-assuring to read that she could opt-out at any time. She feels that her information is in safe hands, and doesn’t mind if it is passed onto commercial companies.
Taking part in the project involved the donation of blood samples as well as tissue during her operation. The blood samples were supposed to be taken before her operation, however due to an error they had to be taken afterwards. This caused some discomfort as Birgit was just recovering from her surgery.
Birgit decided to take part in the project for the benefit of society. She hopes that the large amount of information gathered by the project can help researchers improve health outcomes, develop individually tailored treatments and improve disease prevention. While she doesn’t expect to hear any results, she thinks that it would be useful to know if any information emerged about potential genetic risks to her family.
Birgit was happy with the information given during the process and found the website helpful. She liked the fact it wasn’t “too simple”.
Birgit was happy with the information given during the process and found the website helpful. She liked the fact it wasn’t “too simple”.
Yes, have you had a look at the website?
Mmm yeah.
What do you sort of think of it, and was it easy to access and?
Yeah it was. Yeah, there's different strands for users or people who think about it, and researchers. It wasn’t made too simple, that's sometimes a little bit degrading isn’t it, when they just give you the most basic information. So at least there are links on there, on how do they do the genome, and stuff like that. So people can find out more if they want to, yeah.
Birgit wasn’t sure she would want to know about any secondary findings.
Birgit wasn’t sure she would want to know about any secondary findings.
Yeah, would you want to know that? No then, or?
I don’t know. You would have to have a discussion I suppose wouldn’t you? I mean you have got to plan your life. Same as the cancer you have - you can’t put your head in the sand. You know, you have got to plan. But you have - I found out, you want to ask questions. Because you want reassurance. But then you’re not getting the reassurance, and then you feel worse. So that’s what I’ve learned in the last two or three months really.
That’s interesting.
Be careful what you ask, yeah.
So you won’t always - you don’t always get the answer that you want to hear, or? Yeah.
Yeah, yeah. You’re desperate to know, but of course you really want the positives don’t you? And then if they can’t give you that, it doesn’t feel so good. You have to get your head around that again.
Birgit’s breast cancer nurse forgot to refer her for the project and her blood sample was taken after her operation, which caused some stress.
Birgit’s breast cancer nurse forgot to refer her for the project and her blood sample was taken after her operation, which caused some stress.
That was a little bit unfortunate. Well they were supposed to take the blood sample at my pre-op, but my breast cancer nurse forgot to refer me. I think there were a couple of guys at the [name] Hospital who are based there, who were taking - I think I was supposed to meet them at the pre-op, and sign the consent forms. And then the blood samples would be taken at that point. But I’d got missed off. So I then arranged - the breast cancer nurse arranged another - on the morning of my operation, that they would come to the day-case unit and I would sign it there. And that was fine. And they took tumour samples I guess, from the operation. And they - after the operation they tried to take some blood from me while I was still under the aesthetic but it didn’t work because I was so dehydrated. And then they had to try again during my recovery. And I became really ill. That was a bit unfortunate. It was just a mishap, because would it have been done at the pre-op it would’ve been fine.
Yeah.
That was the only downside that was a bit annoying. And then having to deal with the stress - not much of a stress, but you have the operation and then you have to, have to go to nuclear medicine. I had to go to a day-case unit. I had to meet these guys. All like within an hour.
Yeah.
That sort of - that could’ve been done beforehand, would’ve been a bit easier.
Birgit feels that guidance and support are needed when receiving any genetic results.
Birgit feels that guidance and support are needed when receiving any genetic results.
Yeah.
Definitely, you know.
Yeah. So you would rather know, rather than not know, potentially?
Yeah. Yes I think so, yeah.
Yeah.
Yeah. But I think you need - you need advice when you get that information. You can’t just be given - this is whatever, what it’s going to be. But you can’t, you haven’t got the knowledge yourself to, to understand what that really means.
Yeah.
So I think you need some guidance then, I think.
And what sort of guidance would you want to see, or have with that?
Well you can talk to somebody - a doctor or a nurse or somebody - about these results, and say, "Well what does it mean for me in reality?"
Yes.
Because on paper it might be completely different to real life, isn’t it.