Experiences of participating in the 100,000 Genomes Project
What people expected from the 100,000 Genomes Project
After taking part in the 100,000 Genomes Project, results are sent to a participant’s NHS clinical team. Finding out results could give more information about someone’s health and help find the cause of certain health conditions.
It can take many months to analyse somebody’s genome and when we interviewed people they were still waiting for their results. As the project is ongoing, Genomics England have up to date information about the progress of results on their website (see the Resources page).
People talked about what they hoped to get from taking part in the 100,000 Genomes Project. Many were excited to be part of the project because of the potential benefits to society, and a few had no expectation that results would be of any personal benefit. Kath, for example thought there would be “no particular” benefit for her from participating, although the project might lead to better treatments during her lifetime.
Lucy Z thought the project sounded influential and she hoped it might provide her with extra screening.
Lucy Z thought the project sounded influential and she hoped it might provide her with extra screening.
Waiting for Results
Results from the project are sent to the relevant NHS teams that originally took consent from the participants. None of the people we interviewed had received any results from their NHS team when we spoke to them, but many said that they hoped to. Those who had taken part in the pilot study or early parts of the project, were hopeful they would hear soon. Some people were expecting to hear about results within a year of participating while others thought it would take one to two years. Genomics England have reassessed their estimates of waiting times for results during the project and started putting information on their website (See link in Resources page).
Waiting for results could be frustrating, especially if there was no clear information when exactly they would come. Sheila felt that a two year wait would be “irritating”. Lucy Y contacted Genomics England herself when she heard some people had had results and she hadn’t. However, Betty had been told “it might be a year or two” so knew it would “definitely not [be] soon”. She felt that it would be a complicated process to examine genes “one by one”.
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.
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. SoPam doesn’t expect any results and would be happy not to hear from Genomics England. Contacting her is time they could spend doing the study.
Pam doesn’t expect any results and would be happy not to hear from Genomics England. Contacting her is time they could spend doing the study.
I don’t, I don’t.
And, and how do you feel about that, if you didn’t hear anything?
I’m quite happy. I’m quite happy about that.
Yeah.
Anything that reduces the time they have to waste, not doing the experiments and studying the samples and things, you know - it’s fine.
And so you’re quite happy not to hear any more, sort of results?
Quite happy.
Okay. And why do you think - why is that?
Why is it?
Mmm.
Well I don’t think they’d be taking the samples just for fun. They convinced me that they were taking the samples for excellent reasons. And once I’d agreed to do, take part in it, then I was happy to leave it to them.
Yeah.
They’re more intelligent than me about such things.Grandma Football expects that she might hear about the results when she next sees her consultant. She would have liked a letter from Genomics England just to say everything had gone as planned.
Grandma Football expects that she might hear about the results when she next sees her consultant. She would have liked a letter from Genomics England just to say everything had gone as planned.
Kath wasn’t told anything about getting results and although she doesn’t expect personal results, would have liked to have some sort of update about the project as a whole.
Kath wasn’t told anything about getting results and although she doesn’t expect personal results, would have liked to have some sort of update about the project as a whole.
No. That, that, that were another thing that I were disappointed about. You, you don’t get no results or, or anything about, you don’t, once you’ve given your blood and your tissue and everything else, you don’t get no comeback from it at all. And that’s what disappointed me as well. I were a bit disappointed about that.
You would ha-, so they didn’t say you might get results in a year or two years-
No.
-telling you-
No.
-about-?
That’s, I was a bit disappointed about that, you know. They didn’t say that I’d get any results from it at all. They didn’t say nothing about that. So I just understood that they took that for their research and it, and I weren’t gonna get nothing back from it. You know what I mean?
[mh-hm] Would you like to get a letter explaining?
Yeah, I would, yeah.
Okay.
I think most people would actually.
Okay. And that’s just for your own sort of xx?
For your own, yeah, that’s right.
Okay. Okay, so you have no results?
No, no information at all really.
Okay. And why would you like to have that information?
Well, I’d be interested to see what they’d used it for and what sort of things they were doing. You know what I mean?
Okay.
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.
Okay. So it’s not so much about personal results, it’s about the results of the research in the project?
Yeah, yeah, that’s my personal view. But I mean probably other people would like to know about the results or something, you know.
Okay.
Because, to be quite honest, my understanding is you’ve not joined it for a personal thing, you’re joining it for research more than anything. So-
Yeah, so the common good xx?
Yeah, that’s right, yeah.
People talked about how they expected to receive their results. Some people preferred to receive information via a letter, while others preferred to hear any results from their hospital doctor or other healthcare professional. Nicola (above) said she would prefer a letter and doesn’t really look at her e-mails.
Kay says that if her results find something she would prefer a letter, whilst if nothing is found she would prefer an appointment with somebody to discuss next options.
Kay says that if her results find something she would prefer a letter, whilst if nothing is found she would prefer an appointment with somebody to discuss next options.
So if they say "Well we found, we've found that it's this." Then you –
I'm happy for a letter.
You're happy for a letter? That's really interesting.
Yeah. Yeah.
So you wouldn't want to discuss it further, or?
No.
Why's that?
I think because if it's something I don't want to hear, and I probably get a little bit upset, or agitated, or - I'd rather be at home, in my own comfort with my husband. But if it's to say they've got no answers, or - I'd want, I'd want to ask what, what are you going to do next? Because if they just sent me a letter to say "Mrs [Name], we haven't found anything." I don't want it to be left like that.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.
Most people had a broad understanding of what the project was aiming to achieve and people had their own expectations about what any results might mean for them. Betty hoped that she would have the opportunity eventually to know what her “DNA was saying” about her health. Some people hoped that the results of the project might be used to develop new treatments. Vanessa thought that they might “find the gene that is causing the problem” for people with breast cancer and “then go on to find - maybe - a cure”.
Stuart has a degenerative eye condition, Retinitis Pigmentosa, and hopes the project will identify the “faulty gene” that causes it.
Stuart has a degenerative eye condition, Retinitis Pigmentosa, and hopes the project will identify the “faulty gene” that causes it.
Ok. Again [sigh] 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.
Ok so when they have that full sequence what are your hopes and expectations for what they will do with that?
Well I expect they’d let me know but I think from and then it’s a link back to [Eye hospital] again where [Eye hospital] will. Because I think they’ve identified a number of genes. They may not have identified all of the genes that are defective that cause RP. And I think once we have established exactly what the issue is then hopefully in the future treatments evolve and those treatments will be likely, I think, to be specific to particular genes if you like. You know, so a condition will be established for one of these multi, you know, one of these multitude of conditions and you will be identified as a potential patient from what your, you know, what your genes are like and, you know, which gene is faulty.
More like a tailor-made treatment?
Well it not, they. So a, a faulty gene will cause 10,000 people to have a particular condition. So when they find a treatment it will be a case of fall back condition, bang, you know, we can do that. But in order for you to be definitely having that particular variant of RP then that’s something which will be identified from what the problem is you’ve got with your , with your genes if that makes sense.
Yes. So
So it’s not, it’s not personal to me, it’s personal, it’s sort of, it’s specific to the condition.Grandma football thought the project might find a connection between the illnesses of people in her family and explain why she got cancer.
Grandma football thought the project might find a connection between the illnesses of people in her family and explain why she got cancer.
But it was quite interesting looking at how different members of the family had died.
Ok. And the type of illness?
And the type of illnesses that they’ve had. Yeah my great grandmother, my grandma and one of my aunties had had pernicious anaemia. And my mum and one of her brothers had had horrific, no, one and a sister had had horrific leg ulcers so I, I wondered what the connection was. And I did wonder if this Genome Project might, you know, look into all those sorts of things or come up with what different genetics are there that don’t work properly, you know. And they might be what causes these cancers. We don’t know do we?Nicola isn’t sure she will get any results. She would be “panic-stricken” if she got an appointment to discuss her results, in case they were going to say her cancer had come back.
Nicola isn’t sure she will get any results. She would be “panic-stricken” if she got an appointment to discuss her results, in case they were going to say her cancer had come back.
And do you know that they took the samples?
I've no idea. Not the faintest clue.
But when you told them you were in the project, did they respond to you?
Oh, yeah. Fine, yeah [laughing]. No, I didn't ever ask. I don't know [laughing]. That's them now, I've done my bit, haven't I. I'm not going to be dissecting them myself, am I [laughing].
So if you get results, would you like to receive them by letter, by email, in an appointment?
Ooh. If I got an appointment, I would immediately be completely panic-stricken, because I think they'd be about to tell me that my cancer had come back. If I got a letter, I'd want the first line to say, 'your cancer is definitely not come back, do not think that'. I'd like them to say that on the outside of the envelope. I wouldn't want it by email, because I probably would ignore the email anyway. So, however they do it, they have to do it in such a way that doesn't alarm. Because as soon as you've got something like this, you're really hypersensitive to anything that says - although they've said oh, it's all gone - you know - if I got a letter out of the blue, I'd immediately think it was going to say 'oh no, we've changed our minds'. So, sensitively. Probably by letter. I mean, I wouldn't want to go for an appointment, because it's - you know - I've got to go to work, and do other things. I don't want to sit in a hospital to be told all about it, at all. Because I'm really quite busy [laughing]. I've got other things to do now.Because the information about the project said they would get “something back”, Leanne had hoped they might find out what is behind her daughter’s condition. She now has reservations.
Because the information about the project said they would get “something back”, Leanne had hoped they might find out what is behind her daughter’s condition. She now has reservations.
…do you have sort of like any anticipation that the genomes, the sort of sequencing of the genomes will help, particularly?
Do I have my hopes pinned on it? Is that what you mean, or? Do I think –
Do you hope at all?
I suppose as time's gone on - I did initially when we joined it think that they'll find something on the DNA, and they'll recognise it and they'll say "This is what it is, and this is what'll happen." But we're not hearing anything, and seeing things change for [daughter], I now do have a reservation that if they do find it and say "Well we don't actually know what this is, and we're just going to have to wait and see." I won't wish I didn't - I won't wish that I shouldn't have done it or anything. But I think I probably will think maybe not knowing was better.Nick would rather know if he is predisposed to develop a condition, even if it is untreatable. He was told it would take about a year to process each sample.
Nick would rather know if he is predisposed to develop a condition, even if it is untreatable. He was told it would take about a year to process each sample.
They said the results will take about twelve months to come through. That the Hundred Thousand samples have to be processed. It does take a period of time to do each sample. So we’re aware that it will take quite some time to process all them samples. And they did say they would let you know if you were predisposed to any condition that they have treatments for. If there isn’t any treatment, ethically they are not able to do that. Personally, even there, I would prefer to know. You can make - again, you can make informed decisions.
Oh, that’s interesting. So they said if there wasn’t a treatment for –
A particular condition. They’re not able to tell you. Because ethically it’s not - you’re giving somebody a worry that you can’t do anything about. But personally I’d, even in that situation, I would rather know.Barbara isn’t sure what she’d do with her results and wonders if finding out that her cancer is genetic would give her daughters something to worry about.
Barbara isn’t sure what she’d do with her results and wonders if finding out that her cancer is genetic would give her daughters something to worry about.
Yeah, I mean when I, agreed to it I didn’t obviously know all what was, what was in it. But , no I think helping my daughters and helping anyone else that’s you know, going through this thing would be a - obviously it’s all cancers, isn’t it, it's not just my one, it’s all the others as well. I think anything that can help with cancer, because it’s such a big killer of people.
Yes. Yes, yes I mean. I don’t think that in the - if I got results, what would I do with them, really? [Laughing].
And I suppose if, if it came to that it was a genetic thing - you know - then maybe that would be useful for the, the girls. I don’t know whether that would just give them something to worry about, that they don’t necessarily [laugh] - I don’t know about that.
Copyright © 2024 University of Oxford. All rights reserved.