Experiences of participating in the 100,000 Genomes Project
Giving consent to the 100,000 Genomes Project
People who are taking part in the 100,000 Genomes Project sign a consent form before they give samples of their blood or tissue. People are encouraged to discuss risks and benefits of taking part with a member of the health care team and people are given information to read about the project. Hospitals try to aim to ensure that people are given time to look over the information and consent form before they decide to take part.
When and where do people consent for the 100,000 Genomes Project?
Consent forms are usually signed in hospital after a face to face discussion with a member of the health care team. But the point at which people are asked to join the Project differs for the rare disease and cancer programme. While consent must be given before a sample of blood/saliva is taken for the rare diseases arm, as of March 2017 people in the cancer arm of the project people can consent to tissue that has already been taken (during a biopsy or surgery) being used for the project. This is because people are asked to consent only after a cancer diagnosis is given. The tissues removed for the biopsy/surgery can be stored ready for use by the Project when consent is given. This change came into effect in response to feedback and guidance from service users and the cancer community, however, most of the people we interviewed participated before March 2017 and were asked to consent in advance
The research nurse visited Sheila and her son, Edward, at home where they signed the consent forms and had bloods taken. If consent forms cannot be signed during a routine medical appointment, people may be invited to an appointment with the genetics team at the hospital to sign the consent form and have their samples taken. People can also consent by post or over the phone in some circumstances. Heather, her Mum and Dad travelled to a hospital several hours away to sign consent forms and have blood samples taken.
During her first appointment with her consultant, Aileen was given an information pack to read at home. At her pre-op appointment she had a discussion with the research nurse before she signed the consent form.
During her first appointment with her consultant, Aileen was given an information pack to read at home. At her pre-op appointment she had a discussion with the research nurse before she signed the consent form.
The next I heard about the Genome Project was during my pre-op assessment when I was seen by a research nurse who ensured I’d read the information and then went through things stage by stage making sure when I signed a Consent Form, because I was interested, I knew everything about each specific tick that I made on the consent form.
Questions that I asked about were mainly linked to what would happen with the information that they’d got from me: The blood test results, the biopsy results, my tissues, my blood, but also the information that they could give me that would benefit me in the future and also benefit my family. So looking at what my genetic profile was: Was there anything in that profile that actually I could know about that would help me in the future and as I say also help me family. I have two daughters. These questions were answered in quite a simple way in that I was told that if I ticked the boxes to say that I wanted this information I could always change my mind. If I didn’t want to tick the box equally that was, that was fine. There was no pressure put on me. However what I will say is that it was, the consent and information was given to me at a time when I was taking in a lot of other information about pre-op, about an operation, about my diagnosis. And there were times when I just thought, “Is this too much? Do I want to do it?” However having read the information I realised that actually I didn’t have to do very much at all. It was very much, you know the tissue sample was going to be there anyway. The blood tests I was going to have a pre-op and blood. It was just going to be another vial of blood. And actually there was very little input from me to be involved in this trial. I could only see benefits. And then that’s why really I signed the consent and went with it.
And do you remember how long more or less that conversation lasted?
I would think it was probably about 20, 25 minutes.
Ok.
But it could have been longer. She wasn’t in any rush. I didn’t feel there was somebody behind me waiting to talk to her. You know there. And it was all very relaxed. My husband came in with me as well and so he was able to ask questions. And I think that’s really important too because, you know, my mind was fixed on other things really whereas he, his head was just fixed on what people were, were telling me at that moment. So it was very useful having him there and the questions about, “Did I want to know about my genetic profile?” It was good to have somebody else to just chat to about that and kind of think, “Do I want to know?” Because initially I thought, “No I don’t. No I won’t want to know.” You know this is happening to me already and I don’t want to know anything else.
Exactly
But equally when you think about it sensibly and having somebody there to say, you know, the benefits about it. Then that made a big difference to me. And I felt better ticking the box to say, “Yes I would like to know.” Because I always have the choice to opt out. Arthur was told all about the project at his pre-op assessment and thought “let’s do it”. He took an information pack home with him but didn’t take too much of it in.
Arthur was told all about the project at his pre-op assessment and thought “let’s do it”. He took an information pack home with him but didn’t take too much of it in.
I hadn't, no. Not until the lady said - you know - this is it, read all the bits and pieces there. And again, you know, if I'm going to help, let's see what we can do.
And so who - When were you first told about it? Was this on the Friday?
No, it was - this was on the pre-op, which was the - probably the Friday before. Or week or so before. Mmm.
And can you talk me through what happened?
Well, I presume it was a doctor, but - you know - asked me if I was, you know, prepared to look at it. And I read through the information there. And thought, you know, again - let's do it. And then they had your little envelope sealed, and said "You look at that when you get home." Which I read through, and again - you know - if it's going to be any help, see what we can do.
So the information - was there lots of information? Was it easy to understand?
I'm not too sure that I took much of it, took too much of it in, actually [laugh]. Again, it was, you know - if it's going to help, let's got on with it.
And did she explain anything to you?
Yes. She explained all the bits and pieces, what I'd be doing. You know, if you wanted to pull out any time, you know, you do it, and the onus is on you to decide to carry on or stop.Vanessa was invited to take part by a nurse when she was waiting for an appointment. She only wanted to know if participating would involve taking any trial drugs. The nurse explained that it wouldn’t.
Vanessa was invited to take part by a nurse when she was waiting for an appointment. She only wanted to know if participating would involve taking any trial drugs. The nurse explained that it wouldn’t.
While I was waiting to go and have my pre-meds tests, I had a nurse come up to me and ask me if I would be interested in the genome project. Not knowing what it entailed, I said that - you know - I didn't want to go through any trial drugs, and she assured me that no, there wouldn't any of that, it was purely - you know - to have some bloods taken, and experiences of, of treatments, really. And so I said yes, I would. If it helps someone else along the line, that's what we have to do.
Did she explain to you what the project was about?
Very little. As I say, she didn't have a lot of time, no. Because I was literally going through… she called me. And then within a very short time, the nurse came out to call me to go and have my ECG and other, other checks – ready for the operation. So, it was very much a - She, she did it very quietly, because obviously there were other patients in the waiting room. The waiting room was very small, but adequate for our needs. And we literally stood round the corner, like a couple of spies, really. You know, talking - talking quietly to each other. And she just said that there was an information pack, she said it was a research project. And as soon as I heard that, there was no treatments involved, I was quite happy to, to help you. Lucy Z didn’t feel under any pressure to take part in the project when the research nurse gave her leaflets to read in the waiting room at her pre-op assessment.
Lucy Z didn’t feel under any pressure to take part in the project when the research nurse gave her leaflets to read in the waiting room at her pre-op assessment.
Yes.
What did she sort of say? How did she sort of introduce the -
Gosh I can’t remember. She was quite formal.
Yeah.
She was polite and there was no pressure.
Okay.
I don’t think there was any pressure at all to do it. You know, I didn’t see her handing forms to everybody, or anything. She just gave one to me. But there was probably nobody else in the waiting room at the time. So I didn’t feel - I think my partner had heard of it, as a project possibly. No, she just left me to read it. She didn’t feed me with any information, like; this will be good for you because blah blah blah. You know, nothing like that. She didn’t use any tactics to influence my decision at all, it was very - read it, you can do it, or not, doesn’t matter either way.
And then, did you go then to the separate room?
Then we went to a separate room. And we, we filled this in, in the separate room. And I think I might have done this before the bloods, I can’t remember. Yeah I think we did the bloods last. So I signed all these, and she gave me the carbon copies.Pam signed the consent form before she went in for her breast cancer operation. Although there wasn’t time to read much about it before her operation she trusted the health care team and felt happy to give her written consent.
Pam signed the consent form before she went in for her breast cancer operation. Although there wasn’t time to read much about it before her operation she trusted the health care team and felt happy to give her written consent.
Well I was just waiting to go in for my operation to have my right breast removed, and a lady popped up before me and said would I agree to take in this study. Take part in this study. And I said as long as it doesn’t involve needles I’d be delighted to. She said there will be needles, but that’ll all be done when you’re having your operation. I will take samples and blood, and things. I said that would be absolutely fine, I’m very happy to take part. So I signed the form, and it all went on when I had my operation, and I knew nothing about it.
And what sort of things did she explain to you? Do you remember sort of what she - if you can tell me the details of what she said?
She generally explained what I said - what she was going to do about the blood she would take, and the sample she would take. So that they can analyse them and help, hopefully - you know - give them some help in helping all these awful things.
Yeah, okay. And did she give you any leaflets or were there any?
No she gave me several leaflets, which I read. And learned exactly what they were doing in the Genome Project. And it all sounded really admirable to me, to be doing something like that.
And so you were quite happy with the information that you were given by the nurse? Was she a nurse, or?
No she wasn’t a nurse. Nope, she wasn’t a nurse. Yes, yes. But I - obviously, you can’t study all the leaflets beforehand when you’re just going in for an operation, there wouldn’t have been time. So I didn’t really study them until afterwards, but she told me enough information to make me want to do it.
Yes, so you didn’t feel like you wanted to read them all beforehand?
No, I was absolutely happy to rely on her and what she was telling me.The hospital Stuart went to for his eye tests is at the forefront of research so when they asked him to participate in research related to his condition it was an easy decision to make.
The hospital Stuart went to for his eye tests is at the forefront of research so when they asked him to participate in research related to his condition it was an easy decision to make.
Yeah, yeah. ‘Cos I mean so having been to the clinics for fifteen years. Well there’s two things. I went there once a year for. I go there once a year for the medical side of things but I also, also going there I chose to go there for my DVLA Visual Field Tests because they know how to do them properly whereas often you get sent to other places where they don’t. So I had a sort of a. I was probably there, you know, more than your average RP patient or more that your average RP patient who goes there once a year. If you see what I mean. So there was a level of sort of, you know, trust of the whole organisation. For fifteen years I know that they’ve been at the forefront of most of or quite a lot of the research anyway. So for them to ask me to do something which is related to research connected to my condition for [Eye hospital] is a bit of a no brainer really.
Several people recalled that the person taking the consent spent a long time talking through the form with them, carefully explaining to check that they understood what they were consenting to, with opportunities to ask questions. Leanne said it “wasn’t long speeches or anything”, the person just asked about her preferences. Lucy X said her specialist nurse answered all her questions and gave her an e-mail and phone number if she had any more things she wanted to know.
Mark and Julie found it helpful to have a face to face discussion with the genetics counsellor who went through the consent forms very carefully with them.
Mark and Julie found it helpful to have a face to face discussion with the genetics counsellor who went through the consent forms very carefully with them.
Ok.
Julie: While we were sat there. And obviously then we had to sign our consent and, and bloods were taken at that point but
Mark: Yeah it was a very contractual looking and sounding document.
Julie: Yeah
Mark: Which they apologised for countless times but, you know, it’s a. You’ve got to understand what you’re getting into.
Ok so you discussed with the genetic counsellor and you decided to take part and I gather that you went back and they told you. They went through the form like with a fine toothcomb.
Julie: Yeah read everything out and made sure we understood and made sure we had a chance to ask questions and obviously then, then we signed and then they took the blood so all on that day.
Ok So that, the way that they went through it all that was sort of a very helpful process?
Julie: Yes it was, yeah, yeah.
Do you think if you hadn’t had that you would feel as comfortable with it or?
Julie: I don’t think I would have signed it without having face-to-face sort of time with, with them. I think we needed that really.
Mark: Yeah I mean, you know, I’m used to reading contracts and stuff like that but the language was very contractual but it was understood, could understand it. But I think the benefit of having a face-to-face is, is always useful because you always think of things that aren’t on the page to ask.
Julie: YeahThe researchers talked through the consent forms carefully to Nicola. She was sure she wanted to take part because of her family experiences of cancer.
The researchers talked through the consent forms carefully to Nicola. She was sure she wanted to take part because of her family experiences of cancer.
Yeah.
And you found the forms alright to read.
Well, they read them out.
Part of this project is to feed back -
Yeah. They read them out.
Right.
And that - you know, and I was sort of getting a bit of irritated, because I do loads of ethics forms in my job. But I absolutely completely understood, because I do loads of ethics forms in my job. So they read everything out to me, and checked my understanding all the time. And they said the same things in different ways to further check my understanding. So it was very thorough. Yeah. They didn't just say "Sign here." [Laugh]. "Sign here, or I'm going to cut your leg off." [Laughing].
Nothing like that happened.Julie and her daughter were surprised how detailed the consent forms were.
Julie and her daughter were surprised how detailed the consent forms were.
Kay says she was expecting the sorts of questions she was asked on the consent form and once it was explained to her she felt it was “understandable”.
Kay says she was expecting the sorts of questions she was asked on the consent form and once it was explained to her she felt it was “understandable”.
Yeah. Yeah. Just basically, do you agree with enrolling [Son] into this project? Yeah.
Okay. The consent forms contained several tick boxes about health data, confidentiality, and stuff like that. Was that all made clear on the form?
Yeah.
Is there anything you would change, or?
Probably not. I think generally when you get forms like that, as a parent you kind of already know that you will be asked those kind of questions anyway. And if, generally if you're enrolling your child into something that's, that's going to be quite a big thing - like through hospitals, and elsewhere - you know that you're going to have to give kind of that kind of data out. So I was quite, yeah. Once they explained it back, it was understandable. Yeah.
There are parts of the project which people must agree to in order to participate in the project. But there are also additional findings, which people can opt into or out of, such as finding out about whether they are at risk of developing certain genetic diseases (different to the cancer or rare disease that brought them to participate in the project) in future. Sheila and Edward chose to give written consent to everything.
Since Linda’s identity will not be revealed she is not worried about sharing her data. She ticked all the boxes on the consent form.
Since Linda’s identity will not be revealed she is not worried about sharing her data. She ticked all the boxes on the consent form.
Again you’re a name, you’re just a number or a letter and a number. So that’s ok. I’ve not a problem with that.
Ok.
If it’s going to be, do good then let’s do it.
Ok because I mean. Was anything said about possibly commercial uses of the samples, the use by private companies, drug companies?
I think it was mentioned, yes. And was I happy with that. I think that was one of the tick boxes, yes and I agree. Yeah, yeah I agreed to that.
Why did you?
Because again it’s got to, you know, we’ve got to move forward and learn and I think the process is. If you are going to take on this trial you embrace it totally. You don’t do a little bit of it and not the other bit of it. So if you are going to do it you do it as a whole issue.
Ok. But you have no concerns with sharing the?
No, no ,no. You again, you know, it’s not going to be broadcast that it’s me is it [laugh]. So as far as I am concerned it’s fine.
Ok. So there are no worries at all?
No, none.Lucy Y, who has a rare genetic condition, was happy to consent to her samples being used for most aspects of the project but for a couple of the uses she asked to be contacted beforehand.
Lucy Y, who has a rare genetic condition, was happy to consent to her samples being used for most aspects of the project but for a couple of the uses she asked to be contacted beforehand.
I had to sign huge amounts of documents at that point. And permissions for research. And also for the different uses of the DNA. I think there was only that I wasn't happy with, and I can't remember what it was for. As far as I was concerned, it wasn't one that I felt happy with.
But there was just - there was one on there which I didn't. I, I think most of them I said "Yes. But can you contact me?" Was what I wanted them to do, basically. Or "Yes, I don't mind you using it, but I want to know. And I want my consent given on each occasion. And I want to know what it is, for each occasion."
That was - there was a box you could tick?
I think there was a box you could tick to it. It was either a yes/no, or I think it was - you know - that you'd consent, I think it was. And it was - some of them I, I hadn't got a problem with at all. But there was a couple of them that I wasn't a hundred percent happy with. Which I put down that I would only do if I consented separately to those. Yeah.Aileen liked that there were options on the consent form about how much you could agree to take part in.
Aileen liked that there were options on the consent form about how much you could agree to take part in.
Yeah I think so. I liked the fact that I had to initial each part. That was useful because sometimes you sign a consent form and a consent form at the end. And you sign everything, you know with one signature and it did make me read it. And by having to sign to initial each part the tick boxes as well were quite useful because it gave you the options in a kind of staged way. So that it wasn’t just a, you know, you agreed to this. You, you were given options about how much you agreed to. So I, I quite liked that. It’s quite wordy. So again if people find the reading difficult and I presume it’s in different languages as well, you know, it is quite wordy but that’s why the research nurse goes through things. So, verbally both verbally and written. So I didn’t find the information too difficult to deal with.
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