Experiences of participating in the 100,000 Genomes Project
Being invited to the 100,000 Genomes Project
How were people invited?
Usually people were invited to take part in the 100,000 Genomes Project by a health professional. A nurse approached Lucy Z and her partner while she was waiting for her pre-operative assessment for endometrial cancer. Birgit’s breast care nurse mentioned the project to her and gave her some more information about it to read through and the geneticist Jenny was seeing at the hospital thought she would qualify for the project. But this wasn’t always the case. For example Sheila contacted her local hospital and asked if she could get involved after hearing about the Genomes project on the news.
Betty was invited to take part before surgery for breast cancer.
Betty was invited to take part before surgery for breast cancer.
Quite early on before I, before I started the, in fact I think it was before the operation, in fact. Yes they were doing several blood tests and things and I just thought it was very interesting altogether. I love to have new experiences, quite an adventurous person and I said, “Yes I’ll go ahead with that.” And she explained what it was about as far as the bits of paper were concerned. And I’m glad to help.
Ok so what do you remember?
The only thing…
What she said to you?
She explained that I didn’t need to go along with it. That there was not going to be any change in my experiences or my nursing or the operation if I didn’t go along with it but I understood that. And she said, well that it was a case of they would contact me possibly some time to do what I am doing now. And that I could pull out any time I wanted. That was made very clear that even up to the last moment I could pull out any time. So I thought, well ok. Stuart was invited to take part in the pilot study by his doctor at the eye hospital.
Stuart was invited to take part in the pilot study by his doctor at the eye hospital.
I think it was about a year ago that they approached me with [ah], about whether I would want to be involved in the 100,000 Genomes Project.
So they approached you initially?
Yes, yeah.
Who was that? Was that your consultant there?
Yes.
The one that you regularly see?
Yes so it’s Professor X at [Eye hospital] who runs the clinic and then he has a number of I think he has a couple of consultants and registrars but I think. I can’t remember exactly who it was who approached but it was as, within the clinic I go to once a year. I think that was the point they’re identifying people to go onto the, onto the pilot.
Ok so then what happened after you’d initially you’d been approached? Or when, xxx to think about the approach itself?’
It was in the clinic. It was a case of- So we’d go through the clinic process all the tests, all that sort of stuff. Have a chat about that. They said, ‘Ok’, you know. ‘Would you like to be involved?’ Yes. The consultant gave me some background information. Gave me the paperwork. The paperwork was quite, there’s a lot of it.Jenny received an e-mail from her geneticist about the project and discussed it with her family.
Jenny received an e-mail from her geneticist about the project and discussed it with her family.
Yeah I think it was just to discuss genetics since it could be a genetic in-, inherited disease. I think it was just to discuss. I had bloods taken, genetic testing done I think around 2007/2008 and so they were banked. They banked some of my blood in, in [Town] here because it was, because they thought, you know, it could be but all those came back negative. But since then obviously it’s come out with a whole load more genes that could potentially cause the disease.
Yeah.
That they are now aware of. So it’s a case of re-testing and things like that.
Oh ok.
So yeah we’re just waiting, wait and see.
Ok. So we could talk about, let’s call it like your time line of being involved in the project. So you said you heard about it through the genetics?
Yeah, genetic testing
Yeah. So how did she approach you? What was her?
Well she took a family history and we did a chart, you know to map out your family members and, you know, relatives and things. And that showed that there wasn’t a clear genetic pattern going on, nothing that you can sort of clearly say, “Oh that’s where it’s come from.” So we were just curious really and because she was a part of recruiting people for the 100,000 Genome Project in [City] so she knew about the project and assumed that we could in fact qualify. So she didn’t say anything at the time but she went and checked the criteria and things and she e-mailed us shortly afterwards saying that we did qualify and would we, would we be willing to do it kind of thing but.
Oh, ok so in the e-mail that she sent you. Did she send you the information along with the pack?
Yeah, yeah, yeah all the information and things. And we read it. We read it to, the legal stuff [ha] with, as a family. We literally sat and read it all together because it was, it was a bit of a, it was worded pretty heavily [ha]. And so we had to sort of get our heads around that but no that was ok. And then we went and they read it through with us when we were, when we got there.
Did she mention the possibility of your mum and dad taking part as well at that point?
Yes, yeah, yeah. It was from the beginning it was the three of us would the 3 of us be willing to take part and if not would two, you know, me and maybe one of them if the other one didn’t want to and things like that. But yeah all three of us were happy to, to go ahead.When Heather received a call inviting her and her family to take part she was surprised because it related to her childhood health records but she was glad to help.
When Heather received a call inviting her and her family to take part she was surprised because it related to her childhood health records but she was glad to help.
What did they sort of say to you on the phone, when she rang you up?
Heather: I can’t really remember, it’s a bit of a blur, but. Because I was quite shocked. We’ve not - like my Mum said, we’ve not done anything with it since I was like, I think a small child. So I’ve always just kind of accepted it, and carried on. So to have a really random phone call, just saying "We’re running this project for people who have got rare genetic disorders, and we still have your details, so we wondered if you would be involved, wondered if you would be interested in being involved in it?"
I think I was up for it. Not least because of my, our experience with the geneticist. In that I was convinced it is, we are linked in some way. That I just thought it might help generally the medical research. And you know, best case scenario would be, they might help us find out what is wrong and we might be able to get some resolution to it. Even if it is generally just finding out what’s wrong you know, we might - But to be honest, I think we’ve both grown up and lived with it long enough now that we’re fairly comfortable with ourselves. So I’m just as keen to help other people. Especially when I talk to my Mum, and what my Mum went through trying to help me, having never seen it before. And she didn’t know what to do. I imagine in my own mind other people like me, having a child - maybe not even - without the same condition as us, but with a different condition. Not knowing what to do, and just going week from week, different doctors. And if there’s something we can do to help, then why not? After going for a biopsy Barbara received a message on her phone from someone at the hospital which worried her at first as she didn’t know what it was about.
After going for a biopsy Barbara received a message on her phone from someone at the hospital which worried her at first as she didn’t know what it was about.
But the number was the hospital. So I phoned the nurse’s number that I’d been given, and she told me that it was probably to ask me to go, if I was interested in doing, being part of the course, the project, so.
Yes.
Then when I was - Then I went for the results of the biopsy and they told me that I had cancer. And then I was given the form with all the, the details, and we went through it all, and I initialled it all.
Okay.
And that’s how it - and I said yes that I was obviously, would do it. I didn’t know really - well I know I initialled everything, but you don’t always take it all in do you at the time [laughing]. So I wasn’t absolutely sure what it would entail, if anything, you know, so.Kath didn’t know why she had been chosen to participate and others hadn’t.
Kath didn’t know why she had been chosen to participate and others hadn’t.
Okay. So, so that’s interesting. Because do you think they should explain a little bit, I don’t know, on their website about why some people are chosen?
Yeah.
Why do you think, because-
Well, I’ve no idea. And I mean one or two said to me they were quite disappointed that they hadn’t been asked. Cos they would have probably joined it. And I, they said to me, “Well, how do they choose?” I says, “I’ve no idea.” I said, “I just presumed that they asked everybody.” And then I spoke to quite a few people who, who’ve not been even asked to join it, and one or two think to themselves, “Well, why, why have you been asked and not me?” And, you know, and I said, “I’ve no idea how it works.” I said, you know, “Just no idea how it works.” So I’ve no idea why they ask some and not others. So-
People participated in the project six or more months before they spoke to us about it and, while some had a clear memory of being asked, some couldn’t remember much about being invited to take part or were not sure who had invited them or what their role was. Raymond can’t quite recall who invited him now but thinks it might have been the nurse who told him he had cancer.
Bart can’t remember who approached him to take part because he was more concerned about what the consultant was going to be saying to him.
Bart can’t remember who approached him to take part because he was more concerned about what the consultant was going to be saying to him.
Yeah just waiting like you do and not too long I had to say but a colleague passing through the patients and asking whether they were, had heard of it, were interested in it and an invitation to take part. Well why I wouldn’t really, you know.
Who was this person, a nurse or a doctor?
I think it was somebody associated with the hospital. I really can’t remember because you don’t remember do you? You’re more concerned about what the consultant is going to be saying to you, don’t you? And in the meantime they are talking about tumours and research and you’re thinking well I hope I really can’t help you too much [laugh]. So if I had to I would. I just felt that it was why wouldn’t you? Why would you say no to such a thing? It’s just a matter of them taking away what they are going to take from your body, examining it, researching it, testing it, developing whatever they develop. That’s the field that you guys work in and everybody has a great, a great deal of encouragement by what’s being done. So I had no hesitation whatsoever of taking part.Although she isn’t sure if the woman who asked her was a doctor, Pauline was very happy to be able to help with the research when it was mentioned before her operation.
Although she isn’t sure if the woman who asked her was a doctor, Pauline was very happy to be able to help with the research when it was mentioned before her operation.
Well one of the doctors asked me if I would mind going on it. And I said "No, no I don’t mind at all, if it will help me or anybody else I will just go on it, and I don’t mind."
There’s a Chinese doctor at the [Hospital]. She’s lovely, lovely person. Well I don’t know whether she - I don’t know whether she’s a doctor, or whether - what she is, actually. But she came to me and asked me if I would mind taking part in it. And that was before I had my operation.
Right, okay.
Yes. So I said, "No, if it’ll help me or anyone else, I’m willing."
Yeah. And what did she explain to you?
Well, [sigh] I can’t really remember what, what she actually said. But she just did say it would help, it would help you, and more than you it will help a lot of other people - help us in our research. To you know, into the - how people get cancer. And so that, you know - I thought well if I can help anyway. I will. So that was it.
Some people were preoccupied with other things when they were asked to take part in the project because they were coping with a diagnosis, preparing for an operation, or worrying about treatments. Nicola was approached to take part straight after she had seen her consultant about her treatment for ovarian cancer. She said, “It's a bit of a funny time to ask, isn't it, because it's a bit of a scary time in your life, actually.” Grandma Football said she was “overwhelmed” at the time of being asked as she had just been given a diagnosis of cancer. Birgit couldn’t remember the details about being asked to take part in the project because “you know, this was like a - when you talk about your diagnosis and your future… this was more of an add-on… that wasn’t such an important part of that appointment to me”. Being asked while waiting to go in for an appointment with a consultant or just before an operation could mean that people didn’t have much time to take in the information about the project.
Kath said when you’ve been given a diagnosis of cancer your “head’s all over the place” and you’re not likely to read a leaflet.
Kath said when you’ve been given a diagnosis of cancer your “head’s all over the place” and you’re not likely to read a leaflet.
What is the problem with the leaflet?
There’s no problem with the leaflet. But the point is, you’ve got to understand that when you’ve been diagnosed with cancer, a lot of the time you can’t be, be bothering with anything else. That’s your priority, the cancer that you’ve got. And I think a lot of people that have come home with that leaflet will just shove it on the table and think, “Well, I’ve got enough to be bothered with, without sitting reading that.” You know what I mean?
So I think that if it was explained to you in the hospital from the beginning, people would be more interested. But people are not going to come home and say, “Oh, well, I’ll read that leaflet now.” Because you, you don’t, because your, your head’s all over the place when you’ve been told you’ve got cancer. And I don’t think people want to be bothered with it. And the other thing, I don’t think people understand what they’re getting into anyway. So, and I think it needs to be explained in the hospital what it is. And people will understand it and then they could, they’d be interested more in reading the leaflet then.
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