Experiences of participating in the 100,000 Genomes Project
Contact with the 100,000 Genomes Project after taking part
Hearing from the 100,000 Genomes Project after participating
Many of these interviews were conducted in the early stages of the project and Genomics England has since (during 2017) issued a participant newsletter giving updates on the project’s progress, and regular news is published on their social media channels and on their website.
Any information relating to samples, patient care and results from the project is communicated by the NHS team that recruited the participant. While the people we spoke to had not yet received any personal results from participating, several people had received a letter or an email about the project. For example, those who were involved in the 100,000 Genomes rare disease pilot were asked if they would like to move to the main programme to benefit from additional findings that would be produced. Lucy X had received a letter updating her on the project: “saying that they've moved onto a sort of new phase of it”.
So far your involvement in the project has consisted of giving your blood sample, giving the sputum, the spit sample. Anything else apart from this interview?
No I haven’t been contacted. You are the first time yes.
Ok so after they did the tests has anybody else been in contact with you?
I had one phone call to say that probably it would be August before the, someone got in touch and here you are. But so I haven’t had any. No they said, the lady on the phone said they had enough information at that point that they didn’t need to call me or to, you know, to do anything else then.
But no I think we, we’re being written to not very often but that’s fine. I know this is a long term project. And I think just periodically being kept up-to-date with what, how, how is the, what the project is going. I think the, I think the last communication we had was that it was moving from pilot into a main project. And I had a sort of, we’ll assume that you’re still ok to carry on unless you tell us different type of letter which again was, was fine. So I think that’s the last communication we had which, I can’t remember how long ago that was. Might have been six or nine months ago, not sure.
Ok so when, when you were initially approached about the project and you understood it would be a long term project.
Yeah.
Did you have? What were your expectations in terms of getting results back in terms of time frame and also what the, what you hoped the results would be able to tell you?
Ok. Again we know it’s a long term thing. The, so and I guess our, my attitude is affected by the fact that RP there is no cure but it’s a degenerative condition but it’s a very, very, very slow degeneration. So I’ve got years and years of useful sight left. So therefore I’m not sort of, you know whilst I want to, the cells are dying in my eyes all the time but and you want to keep as much vision as possible if, if the answer is they find a condition that stops it. However, I know that, you know, I’ve got time if you like for. I would expect in terms of what I expect is they’ll come back with a, a full sequence of the DNA that identifies the faulty gene that is causing my specific condition.
I probably - I have received correspondence from them since. I can't remember if that was separate, or - I received correspondence from them I think at one point, which was probably to say they'd received it at that point. And then most recently, which is - I think it's a little bit unfair. And I, I don't understand this side of things myself. But they've written to me and asked me - I took part in the Rare Disease Genome Project. They must have put me forward for the main genome project. I haven't had any information back on my genome and my DNA yet. So I'm wondering why they want it for the main project, and therefore they must have found something, but I don't know anything. So either it's the fact that they've looked at the medical notes and thought that lady would be interesting to put in the, in the main project, or have they actually done my DNA and I haven't received it back yet? Or was it just a mailshot that they sent out to everybody that was on the rare disease project, asking them if they'd join the main project? These are things that I don't know. And this is where I think the feedback would be quite important. They don't actually seem to understand - they understand it from the legal document side of things, they don't understand it from our side of things. You know, I suppose it must be a bit like someone doing a kidney transplant and that kind of thing, you know? So it's, I've allowed them to have a little bit of me. And I'd just like a little bit of feedback, really. But then there's an awful lot of people they need to contact to do that, isn't there, if it's a hundred thousand, so [laughing]. It's a lot of timescale, yeah.
However, many of the people we spoke to hadn’t heard anything from Genomics England or their clinical team since taking part. People had mixed feelings about this. Some people felt disappointed or worried that they hadn’t heard anything. Emma says the timeline she had been given was “wafty” and an occasional phone call from the genetics team would make her feel they hadn’t been “forgotten.”
Julie: I think it’s just the time you have to wait now that’s the issue. You know you get. We thought we might have got some results by Christmas but we had a letter to say it will be another 9 months at least. So
Right ok.
Julie: You know it’s just the waiting now really.
Ok so when you got that letter how did you feel about it?
Julie: We were a little bit sort of disappointed. We thought maybe we’d have got, you know. But we understand I mean the testing is very quick but it’s the reading of the results that takes the time. And you know you kind of have to understand they’ve got lots to look at haven’t they?
Sure. Did they, what did the letter say? I’ve not actually seen one of these letters.
Julie: I mean I’ve probably got it somewhere in the file to show you.
Mark: Yeah
Julie: I think it was just basically, you know, we’re very sorry but there will be this sort of delay, possibly another 9 months so.
Mark: It’s kind of a just to keep you updated with events XXX.
Julie: Yeah. I mean we were told to expect maybe phone calls sort of for extra information. We’ve not had anything like that. So
Ok.
Mark: [mutter]
Julie: They’ve not needed to ask us anything else yet. So
I’m not aware of, if I am going to have to give anymore samples in the future. And if I do I assume that it would be if I had to have any more operations or tests and it would be done at the same time as that. You know, would I remember that some of it may be going to the Genome Project. I don’t know And I think maybe that’s quite a useful thing as well is kind of being reminded that you are part of it every now and again. Because it would be very easy to forget that actually you are part of the project and it can, you know, it can carry on after your death. Even the, you know, they may take tissue samples. And so, you know, I’m in my late 50s hoping for another 30 years. And I will have forgotten that I’d signed up for this project. So maybe just a reminder, gentle reminder that you are still part of the project in the future would be quite nice.
So a letter or
Yes
Sent
Yes just to, you know, because years go by and I will forget that I’ve signed that consent form because this part of my life will be over and it’s very much associated with this diagnosis in my own mind when actually it’s an ongoing programme that can affect me for the rest of my life. So, you know, again looking at it and just thinking about it that might be quite nice just to, to have a reminder every now and again that you are still part of that.
What people wanted to hear about
Betty received a phone call telling her they didn’t need any more information and that someone would be in touch.
Betty received a phone call telling her they didn’t need any more information and that someone would be in touch.
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No I haven’t been contacted. You are the first time yes.
Ok so after they did the tests has anybody else been in contact with you?
I had one phone call to say that probably it would be August before the, someone got in touch and here you are. But so I haven’t had any. No they said, the lady on the phone said they had enough information at that point that they didn’t need to call me or to, you know, to do anything else then.
Stuart was told he was being moved from the pilot study to the main study.
Stuart was told he was being moved from the pilot study to the main study.
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Ok so when, when you were initially approached about the project and you understood it would be a long term project.
Yeah.
Did you have? What were your expectations in terms of getting results back in terms of time frame and also what the, what you hoped the results would be able to tell you?
Ok. Again we know it’s a long term thing. The, so and I guess our, my attitude is affected by the fact that RP there is no cure but it’s a degenerative condition but it’s a very, very, very slow degeneration. So I’ve got years and years of useful sight left. So therefore I’m not sort of, you know whilst I want to, the cells are dying in my eyes all the time but and you want to keep as much vision as possible if, if the answer is they find a condition that stops it. However, I know that, you know, I’ve got time if you like for. I would expect in terms of what I expect is they’ll come back with a, a full sequence of the DNA that identifies the faulty gene that is causing my specific condition.
Lucy Y got a letter saying she had been moved from the Rare Disease Genome study into the main study, but worries about why this was.
Lucy Y got a letter saying she had been moved from the Rare Disease Genome study into the main study, but worries about why this was.
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Mark and Julie found out they would need to wait longer for their results. They were disappointed about the wait but understood that analysing the results takes time.
Mark and Julie found out they would need to wait longer for their results. They were disappointed about the wait but understood that analysing the results takes time.
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Right ok.
Julie: You know it’s just the waiting now really.
Ok so when you got that letter how did you feel about it?
Julie: We were a little bit sort of disappointed. We thought maybe we’d have got, you know. But we understand I mean the testing is very quick but it’s the reading of the results that takes the time. And you know you kind of have to understand they’ve got lots to look at haven’t they?
Sure. Did they, what did the letter say? I’ve not actually seen one of these letters.
Julie: I mean I’ve probably got it somewhere in the file to show you.
Mark: Yeah
Julie: I think it was just basically, you know, we’re very sorry but there will be this sort of delay, possibly another 9 months so.
Mark: It’s kind of a just to keep you updated with events XXX.
Julie: Yeah. I mean we were told to expect maybe phone calls sort of for extra information. We’ve not had anything like that. So
Ok.
Mark: [mutter]
Julie: They’ve not needed to ask us anything else yet. So
Aileen would quite like a reminder that she is in the project because “years go by and I will forget that I’ve signed that consent form”.
Aileen would quite like a reminder that she is in the project because “years go by and I will forget that I’ve signed that consent form”.
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So a letter or
Yes
Sent
Yes just to, you know, because years go by and I will forget that I’ve signed that consent form because this part of my life will be over and it’s very much associated with this diagnosis in my own mind when actually it’s an ongoing programme that can affect me for the rest of my life. So, you know, again looking at it and just thinking about it that might be quite nice just to, to have a reminder every now and again that you are still part of that.
People wanted:
- General updates on the project’s progress
- Information about any findings so far
- Information about their own sample
- Their results or when they would get them
(see also Messages to Health Professionals and Genomes England)
You know, I think most people who, who joined it would be interested to see what happens to their blood and, and their, their tissue, what it went for and what they did with it and-.
So you would like a kind of update on what they’re doing?
Yeah, yeah.
Okay.
I mean nothing, nothing too elaborate. Just basically know, you know, what they did with the, your blood and what they did, why your tissue went there and, you know, things like that, just general things really.
Okay. Just to send sort of a letter saying-
Yeah, that, you know-
-this is where we are at this moment?
Yeah, yeah.
Okay.
Because sort of you do all these things and then you’re just left dangling in the air sort of thing. You don’t know what they’ve done with your blood or anything. I mean they explain that it’s for research and things like that. Which you understand. But we’re just interested to know what they used it for.
Julie: Mine would be, if possible give as much feedback to the participants as you can. Even if it’s negative feedback, in that you haven’t found anything. Just to let us know that you’re out there, and that you’re doing it. A quick email, just to say we’ve still got your samples, you know, any concerns get in touch - that sort of thing. I think the fact that we know that we’re not going to have any contact from them
Heather: Yeah, they could send us a bit more information couldn’t they. We’ve not, since we gave the samples, we’ve not heard anything from anybody about it. It would, maybe it would be nice to - even if they gave us back information about ah, this is what we’ve found so far, or this is what we haven’t found. Or even general information. They could say about now this is what we’re doing, and this is how we’re trying to make the project better know, or this is what we’re trying to do with the results we’re getting, or just general information that they could send us and just keep in touch.
Julie: Yeah. I would definitely like a bit of feedback. Even if it was we haven’t really found anything. I’d just like to know they’re still there and they’re still doing it, and.
Heather: It doesn’t even have to be personal feedback though, that’s what I’m saying.
Julie: No. I agree.
Heather: Just a generic email that they could send everybody, saying so far we’ve found this many results, or we’re at this stage in the project now, and we’re grateful that you took part.
Julie: I completely agree with that.
One thing I would say is to have a newsletter say once a quarter, or whatever. Just giving a - to all the participants. Letting them know where the process is at. A generic process. We know it’s harder to do it on a one to one basis, but how many have been processed, and what advances have come out of it. We know there has been a couple because we’ve seen it on the BBC website. But it would be nice for the genetics programme to let us know. And maybe to put out press releases or Twitter feed, or whatever. What’s happening, what they’ve found. Because it’s good, it shows that the work they're doing is giving valuable resource. It’s not all the scare stories you see in the media about the ethics. The reason why the genetics research is there is to make the conditions detectable, find out treatment for them if possible, and to keep you informed. So that if it was say a cancer gene, you can be found out at an early stage.
Some were waiting for their results and had contacted Genomics England directly (see also What people expected after taking part).
But then I have since then been on the genome research site, and I have Googled genome research. And I've seen that you've had people that have come through the genome project and been diagnosed. I was quite - when I saw that on telly, and I've seen that this person's been found on the genome project and now being treated, I was quite upset at the time. Because I thought crikey, they haven't even bothered to contact me. But when I spoke to them and they said "No, these are people that have very short life expectancies, and - you know - that's why these people desperately need to have these, you know, be put further forward." I completely understood. But the feedback could be a bit better, to be honest. I feel a bit, you know, you've handed it over and that's it [laughing]. Yeah.
But some people said that they didn’t expect to have any more contact about the project, or felt quite neutral about receiving any results. Nicola said, “It's quite possible I've got a letter at home that I haven't read”. Although Victoria hoped for a cure, she felt that she had “done her little bit”. Pam was happy not to hear from the 100,000 Genomes Project and thought it was better for Genomics England to spend their time on the study rather than contacting her.
And if you didn’t hear any results or anything again from Genomics England how would you feel about that?
If I didn’t hear anything more from them?
Yeah.
I wouldn’t mind [laughing]. I don’t mind. Yeah, that’s fine as well. Yeah.
Yeah. So you’d be okay with not hearing anything.
Oh yeah, yeah.
And why is that? Can you explain sort of why?
Can I? Oh well, I don’t know. I want to live my life as normal again. You know? I want to be how I was before the diagnosis, if that’s possible. Or as near to that as possible. So any trawling over everything, anything that reminds me of my illness, I’d just quite like to close the door on it. Yeah.
Knowing who to contact
Kath is interested to know some general information about what happened after giving her sample as she’s been left a bit “dangling in the air”.
Kath is interested to know some general information about what happened after giving her sample as she’s been left a bit “dangling in the air”.
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So you would like a kind of update on what they’re doing?
Yeah, yeah.
Okay.
I mean nothing, nothing too elaborate. Just basically know, you know, what they did with the, your blood and what they did, why your tissue went there and, you know, things like that, just general things really.
Okay. Just to send sort of a letter saying-
Yeah, that, you know-
-this is where we are at this moment?
Yeah, yeah.
Okay.
Because sort of you do all these things and then you’re just left dangling in the air sort of thing. You don’t know what they’ve done with your blood or anything. I mean they explain that it’s for research and things like that. Which you understand. But we’re just interested to know what they used it for.
Heather and Julie haven’t heard back and would value some feedback or information even if it is generic and not specific to them.
Heather and Julie haven’t heard back and would value some feedback or information even if it is generic and not specific to them.
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Heather: Yeah, they could send us a bit more information couldn’t they. We’ve not, since we gave the samples, we’ve not heard anything from anybody about it. It would, maybe it would be nice to - even if they gave us back information about ah, this is what we’ve found so far, or this is what we haven’t found. Or even general information. They could say about now this is what we’re doing, and this is how we’re trying to make the project better know, or this is what we’re trying to do with the results we’re getting, or just general information that they could send us and just keep in touch.
Julie: Yeah. I would definitely like a bit of feedback. Even if it was we haven’t really found anything. I’d just like to know they’re still there and they’re still doing it, and.
Heather: It doesn’t even have to be personal feedback though, that’s what I’m saying.
Julie: No. I agree.
Heather: Just a generic email that they could send everybody, saying so far we’ve found this many results, or we’re at this stage in the project now, and we’re grateful that you took part.
Julie: I completely agree with that.
Nick suggests that the genetics programme could feedback to all participants about the project’s progress through a press release, newsletter or through social media.
Nick suggests that the genetics programme could feedback to all participants about the project’s progress through a press release, newsletter or through social media.
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Lucy Y got in touch with Genomes England to find out why some people had had results back and she hadn’t. She was satisfied with their response but thinks there should be more feedback.
Lucy Y got in touch with Genomes England to find out why some people had had results back and she hadn’t. She was satisfied with their response but thinks there should be more feedback.
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Pauline doesn’t expect to hear back and doesn’t mind (played by an actor).
Pauline doesn’t expect to hear back and doesn’t mind (played by an actor).
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She said, "Do you mind if I - if I have a blood sample?" And she went with me to the - in the hospital, to the - where they take the blood samples. Yes.
And she came with you, and?
Yes, and she took the sample away.
Okay.
Whoever it was.
Yes. And did they tell you anything about expecting any results for the 100,000 Genomes Project?
No, she said we will contact you from time to time.
Yeah.
And that was, that was it.
And do you expect to get any results from –
No.
For the 100,000 Genomes Project?
Well not - I’m not expecting them. I mean if they come [laughing], I’ll be interested.
Yeah.
But you know, I’m not - I don’t expect you to keep, keep me informed all the time, no.
And what would you be interested in if some results came?
I don’t know, really.
Mmm.
In knowing that I was going to be alright [laughing].
Yes. And if you don’t get any results? You feel sort of, is that okay? If you didn’t hear? If you didn’t hear anything again from the 100,000 Genomes Project?
Yes. Yes. Yes, I’m - I don’t mind. You know, you do what you’ve got to do.
Lucy Z wouldn’t mind not hearing back as she wants to live her life and having contact might remind her of her illness.
Lucy Z wouldn’t mind not hearing back as she wants to live her life and having contact might remind her of her illness.
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If I didn’t hear anything more from them?
Yeah.
I wouldn’t mind [laughing]. I don’t mind. Yeah, that’s fine as well. Yeah.
Yeah. So you’d be okay with not hearing anything.
Oh yeah, yeah.
And why is that? Can you explain sort of why?
Can I? Oh well, I don’t know. I want to live my life as normal again. You know? I want to be how I was before the diagnosis, if that’s possible. Or as near to that as possible. So any trawling over everything, anything that reminds me of my illness, I’d just quite like to close the door on it. Yeah.
Generally people hadn’t thought about exactly how they would get in touch about the project results. Those who had kept their paperwork from when they agreed to participate thought that it might have some details about who to contact. Others felt they could get in touch with the hospital where the samples were taken or speak to their consultant. Mark and Julie felt that they could look on the Genomics England website or contact their geneticist if they wanted to have further contact. But quite a few people we spoke to didn’t know who to contact because they no longer had their consent form or weren’t sure where to look.
Was the information helpful, or is there anything you would suggest could improve it?
It's a couple - it was a good couple of years ago now, so I can't quite remember. I think - so it was just a piece of paper that I definitely lost, from moving from place to place. It was helpful. I remember there was a lot of information to chew through. I think the only thing that I would have preferred was to have more kind of - so I don't really, I don't really know who to contact if I want to find out about any results from it. Or, and because I've moved address, I - I'm not quite sure. I think I'd have to go back to the hospital that discharged me, find out through them. Hope that the person is still there, or something like that. So it's just - I think the only thing I would say that could have been improved was some interim contact. Or just knowing - yeah, just some information about who to go if you've got more questions. I know I can call my sort of - I can withdraw permission for them to use my, use the blood or use the information. But I don't know I'd contact that person.
See also: Thinking about the future after participating in the 100,000 Genomes Project; Messages to Health Professionals and Genomics England.
Lucy X has lost the original information she received a few years earlier when she participated. She now doesn’t know who to contact about her results or withdrawing.
Lucy X has lost the original information she received a few years earlier when she participated. She now doesn’t know who to contact about her results or withdrawing.
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It's a couple - it was a good couple of years ago now, so I can't quite remember. I think - so it was just a piece of paper that I definitely lost, from moving from place to place. It was helpful. I remember there was a lot of information to chew through. I think the only thing that I would have preferred was to have more kind of - so I don't really, I don't really know who to contact if I want to find out about any results from it. Or, and because I've moved address, I - I'm not quite sure. I think I'd have to go back to the hospital that discharged me, find out through them. Hope that the person is still there, or something like that. So it's just - I think the only thing I would say that could have been improved was some interim contact. Or just knowing - yeah, just some information about who to go if you've got more questions. I know I can call my sort of - I can withdraw permission for them to use my, use the blood or use the information. But I don't know I'd contact that person.
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