Experiences of participating in the 100,000 Genomes Project
Deciding to take part in the 100,000 Genomes Project
For some people we spoke to, making the decision to take part in the 100,000 Genomes Project was straightforward. Most people were glad to have the opportunity to take part in the project and to be able to contribute to scientific research of this nature (see Reasons for taking part).
People often decided to take part straight away, although some wanted more information to help them make a decision or felt the decision had to be very carefully thought through.
Kay used Twitter to contact Genomics England to get more information about the project. They sent her a link which she found really helpful. The Twitter response made a huge difference to her deciding to participate.
Kay used Twitter to contact Genomics England to get more information about the project. They sent her a link which she found really helpful. The Twitter response made a huge difference to her deciding to participate.
So it's completely new to you?
Completely new, yeah. Yeah.
And did you find the information that you were sent understandable?
Not at first. But by going onto Twitter, I searched it through Twitter, and somebody on Twitter - I put a question about, you know, I really have no clue about what it is. Even though I'd read the letters, it just didn't sink in. So I spoke to - well, just sent a little message on the Twitter page that they have, and then somebody forwarded me a link which I think sent me to an internet link which explained in black and white, understandably.
Okay.
So it just made it much easier to read, like kind of - it was broken down into scenarios, which made it easier to understand.
Right. So what did you actually get sent in that first - when you first -
That first letter?
Yeah.
It told me about the person who, who it was that would contact me. And then just basically thereabouts saying that, you know, as [Son] has what we would class as a rare condition, we've forwarded him, we've enrolled him into this genetic, this -
Genome.
Genomes, yes, project. And then explained in - I suppose in their terms, what I would say, a doctor's terms - explained it. It just wasn't - whether it was a bit too much to take on board at the time, I don't know. But it just, there was just a lot of information.
And did they send a leaflet or a booklet with it?
No, I didn't have a booklet.
Right.
No. But I obviously found that kind of booklet information through the website, yeah.
Yeah. Okay. And was it - can you remember which website it was, that you were sent to? There's a Genomics England website?
Yes. I think it might have been that one. Because it was those I think that actually, that I -
Tweeted.
Tweeted, yeah. That I found on Twitter. Yeah.
Right, okay. And were they quite quick at getting back to you on Twitter?
Straight away. Yeah. Straight away.
Oh, that's good.
Yeah. Yeah.
And you got the link. Did they check up after you'd - did they get back to you on Twitter?
Yeah, well I obviously put, you know, thank you so much and they says, you know, if it helps, great, or if you need any further information, just let us know, so.
Okay. And you say that on the website, it was broken down into scenarios. So did they use pictures, or was it –
Yeah, there was some pictures. And there was kind of like explanations. You know, like saying like using another person. You know, so and so has this, and we don't know what it is, so we're looking into it. But somebody else could also have the same similar thing, so we're going to like group them together, and figure it out that way. It just made a lot more sense, seeing it written down. Like obviously - well, it was on screen obviously, but it just made it a lot more easy to understand.
That's good.
Yeah.
And did you - do you think if you hadn't been able to go on Twitter and get that additional information, do you think you would have agreed to take part in the study anyway, when you couldn't really understand it?
No, I probably wouldn't have. Because at first I just kept thinking well, do they - Like because nobody, no one actually told me that like you have to wait for, you know, the amount of people - nobody said anything, it was just left that you are enrolled and this lady will get in touch with you, from like the hospital. But through the website was where I found out that it's a waiting game. And it's just where you literally just wait. And then -
Wait for results?
Wait for results, yeah. Yeah.Emma thinks people need to be made more aware of the potential impact of the results. She talks about how results relating to her son’s rare condition could affect her daughter.
Emma thinks people need to be made more aware of the potential impact of the results. She talks about how results relating to her son’s rare condition could affect her daughter.
Yes absolutely. Yeah, that would be a good suggestion, the sort of genetic counselling, or?
Yeah, which we know there is there for conditions that they know about. But actually for those who have something that perhaps they don’t know about, just to have somebody sit you down and say, "Look are you ready for the can of worms this may open?" And just to make sure that, yeah the decisions you're making are the right one. And I know it’s a personal choice but I think you’ve got to recognise the fact that people have to be fairly strong, to go through this kind of thing. And yeah, to make sure that they have a support network in place. We have a very good support network, but we need to make sure that we’re providing that support for people. Mmm.
Yeah, absolutely. And you mentioned there about siblings, and your decision that your daughter didn’t didn’t take part.
Mmm. Mmm.
Can you tell me a little bit more about that?
I think we were just conscious of the fact that if anything was found with our son, and it was found to come from either parent, then we’d probably have to look at the fact that we may have to look at our daughter. Who actually currently is doing really well, and there’s there’s no concerns with her. But then we’ve got the whole decision of if they found something do we have her tested? Do we - when she is actually showing no symptoms of anything - put her through that? Is there a chance she can genetically pass something on? And that was a whole conversation we had internally I think, that wasn’t really picked up on at all within the study. And it would’ve been really nice to chat that through with somebody who understood kind of the genetics of it all. That would’ve been really helpful for us.Lucy X talked to her mum before deciding to take part. While Lucy X wanted to know the results, her mum was less sure she would want to know if the results suggested Lucy X might have a serious illness.
Lucy X talked to her mum before deciding to take part. While Lucy X wanted to know the results, her mum was less sure she would want to know if the results suggested Lucy X might have a serious illness.
She'd always seen - when I was little - she would always take me, and I'd be the kind of guinea pig at the doctors. You know, where they listen to your chest, and things like that. So she's really supportive of research. I did talk to her about it. I think the biggest thing wasn't necessarily do we take part, it was more - she wasn't sure whether if they found anything that could be serious or indicative of something else, she wasn't sure if she wanted to know. Whereas I knew I wanted to know. So I think that was just the hardest one.
Do you know what she decided in the end?
I think she - I don't know. I think she went for being told if there was something. But I think the chances - I guess there is always the chance that if I was told something, and told her, she'd then maybe know she also has some problem. But yeah, I think she went - I think she agreed in the end.Aileen was glad her husband was there when she was invited to take part in the project so that she could chat to him about it. She later talked to her grown up children about any risks involved in taking part.
Aileen was glad her husband was there when she was invited to take part in the project so that she could chat to him about it. She later talked to her grown up children about any risks involved in taking part.
So
So it’s fineKay found the project information leaflets difficult to understand so her husband read them and he reassured her that taking part in the project would be a good thing.
Kay found the project information leaflets difficult to understand so her husband read them and he reassured her that taking part in the project would be a good thing.
Yes I did, with [Husband]. It was, it was my husband that had to kind of look at all the information. You know, because it literally just went over my head. So [Husband] looked through all the information, and said to me "I think the only thing that could come from it is good, don't see how it's going to - you know - affect us badly or negatively." So he says, "Yeah, just go with it and see, see what the outcome is." Yeah.
And did you discuss it with any other member of your family, or any friends?
No, there's nobody else that really knows about it, because I don't think they'd have a great understanding about it anyway, so.Lucy Z didn’t feel mentally in a place to do anything when she was approached. Her partner, who is a scientist, understood about genetic research and helped her make the decision to take part.
Lucy Z didn’t feel mentally in a place to do anything when she was approached. Her partner, who is a scientist, understood about genetic research and helped her make the decision to take part.
Yeah.
And, I was - To be honest mentally I wasn’t in a place to sort of do anything. And I would’ve said, probably said, "No [laughing], I can’t be bothered with it. I know I can’t be doing with it." But my partner's a scientist and academic. He works at the university.
Ah, okay.
And he said, "I think you should do it. I think it could be good, a good thing."
Mmm.
You know he read through it with me, because I was a bit unable to focus. And he said, "It might, you know you might gain from it. There might be things in there that are going to help you, you get some extra screening possibly, and some extra stuff that you wouldn’t otherwise get."
Mmm.
So I thought ‘oh whatever’, you know, ‘I’ll do it’.
Some families who had a child with a rare genetic condition had more in-depth discussions about taking part. Jenny and her parents had a family discussion and read through the information together which helped them to make their decision.
Nick’s daughter talked to him about deciding whether or not to take part in the Genomes project. They did a Google search to check it was genuine because the invitation had come out of the blue.
Nick’s daughter talked to him about deciding whether or not to take part in the Genomes project. They did a Google search to check it was genuine because the invitation had come out of the blue.
Yeah.
Because it’s out of the blue. But the more we looked at it, did a quick few Google searches to make sure everything was genuine. It was genuine, obviously it was genuine. And we just sat down, and I said "Well, what have we got to lose?"
Mmm.
The best thing that could come out of it, you could have a wonder treatment that could happen. I know that’s highly unlikely. But at least it’s there to help further genetic research. It’s there to help you and the future generations. Yeah.Emma felt it was important to involve her husband in the decision about whether to take part and felt it was important to consider what the research might find out and whether they would want to know.
Emma felt it was important to involve her husband in the decision about whether to take part and felt it was important to consider what the research might find out and whether they would want to know.
Mmm.
So actually we thought it was really important for us that he was very comfortable with the decision that we made. And which actually he is. And we had a kind of think about the future things. Because when you are invited to take part, they let you know that they are going to be testing for other conditions, and do you want to know about those conditions? And you think well, I think that’s an easier decision to make for ourselves, but how do we make that decision for our son?
Mmm.
And I think that’s - that was something we had quite a lengthy chat about, whether we wanted to know. Actually, whether they did find anything else out and would it change how our life is, at all? And I think there is that, that fear that if they do find something, what information are you going to get from that? So.
Yes, how did you feel about that? Sort of potentially finding out? What was the discussion like, in terms of - about that?
I think it was difficult, because we - I think my big fear, and I assume my husband, but he’s a typical man and he doesn’t speak very much [laugh]. Was that what if they found something that was life-limiting? I think that for us was the hard one to get our heads around.
Mmm.
We could kind of cope with him having a condition, but I think for us it was well if they found there was something that would give us a limit. A time limit on what he could accomplish or a limit on what he could achieve.
Mmm.
But we felt that we probably need to know, so we could prepare ourselves if that was the case. Because at the moment, as I’ve said, we kind of - we live one day to the next, and we have stability at home and we’re not in hospital. But we don’t know what the future holds for him. We don’t know if he’ll live independently. We have no idea whether he will ever kind of be able to live without our support at all. And to have an answer to that would be great. Mmm.
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