Experiences of participating in the 100,000 Genomes Project
Thinking about the future after participating in the 100,000 Genomes Project
Helping others in the future
People were glad of the opportunity to help improve medical knowledge about the causes of rare diseases and cancer and hoped it would lead to new medical developments in the future. Linda says, “It gives you a really good sense of satisfaction,” and Edward talked about the “thrill of helping out”. Jenny was “quite excited” about “the potential in the future to use that sort of information once things have developed even more”.
Mark and Julie hope that the results from the project are well publicised so people are aware of the positive outcomes and are encouraged to participate in other projects in future.
Mark and Julie hope that the results from the project are well publicised so people are aware of the positive outcomes and are encouraged to participate in other projects in future.
Sure.
Julie: So yeah just to say how proud we are of her really and obviously we just want to back her up and.
Mark: It would be good to see some output when they do get the results.
Ok.
Mark: Not for it just to be held by the, you know, research establishments, pharmaceutical companies and educational areas because, you know, they’ve advertised it, I think on the TV. It would be good to feedback to the public some of the things, some of the positive things hopefully that have come out of the project because if people are asked to enter into these types of projects in the future unless they know there’s a positive outcome why would they bother unless they’ve got a personal interest.
Ok
Mark: There’s a lot of things are going on in the population for people who don’t have day-to-day conditions like this who won’t feel any other, you know, enticement to, to perhaps get involved which may be again preclude people getting the info.Lucy Y wanted to know more about how the data would be stored, and was concerned about the possibility of it being used for ‘the wrong reasons’ in the future.
Lucy Y wanted to know more about how the data would be stored, and was concerned about the possibility of it being used for ‘the wrong reasons’ in the future.
It sounds absolutely crazy. But they could, they had on X-Files, they've had on CSI before, like murders done by people that are hypermobile that are so bendy they could put their arm in through the letterbox, and they - that, you know, could they take that DNA gene that is bendy, and use it to an advantage for some reason? You know? Could they take [sigh], find what the gene is that makes our muscles weaker, and our collagen weaker, and if they found that cure for that, could they then not use that cure to then bulk up people's muscles? Same as like steroids. So it's that. They have to be very careful with what they do with this information. And even with what they develop from the information. Because it could then be used for the wrong purposes again. Even if it's been, you know, made and used completely innocently. I think there's - there's - there's always a, you know, a consequence, isn't there.
What project might mean for them personally in future
Several people shared their thoughts about what the project might mean in the future for them personally.
As well as providing information about a person’s cancer or rare condition, the project can provide information about whether a person is at risk of developing some specific inherited life threatening conditions during their lifetime that are not connected to the cancer or rare condition that brought them to the project. Genomics England provides a list of these conditions (which changes as medical knowledge advances) on the results page of their website (see our Resources page). These conditions can often be treated or reduced through NHS treatments.
Jenny thought it was good that it is only treatable conditions that she would be told about.
Jenny thought it was good that it is only treatable conditions that she would be told about.
I have opted in to that.
Ok.
Yeah, yeah.
So when those results have been delivered to you do you know? Are there any you’re more worried about than others or?
Not really. I mean you do tend to sit and read through the list and think, “Oh did my nan have that?” [Laugh] You know and think back to your own family history and think, “Oh maybe it’s more likely to come out with that one or.” But there wasn’t anything on there that really worried me at all. There wasn’t anything that. They made a point of not testing for anything they couldn’t do anything about. So things that you could screen for and have preventative treatment they were the things they would opt for. They wouldn’t look for things like Alzheimer’s and other scary things that you couldn’t really do anything for. So that was, that was alright.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.Birgit wasn’t sure she would want to know about any secondary findings.
Birgit wasn’t sure she would want to know about any secondary findings.
Yeah, would you want to know that? No then, or?
I don’t know. You would have to have a discussion I suppose wouldn’t you? I mean you have got to plan your life. Same as the cancer you have - you can’t put your head in the sand. You know, you have got to plan. But you have - I found out, you want to ask questions. Because you want reassurance. But then you’re not getting the reassurance, and then you feel worse. So that’s what I’ve learned in the last two or three months really.
That’s interesting.
Be careful what you ask, yeah.
So you won’t always - you don’t always get the answer that you want to hear, or? Yeah.
Yeah, yeah. You’re desperate to know, but of course you really want the positives don’t you? And then if they can’t give you that, it doesn’t feel so good. You have to get your head around that again.Aileen says she is a “rather know about it kind of person”.
Aileen says she is a “rather know about it kind of person”.
Benefit ok.
As I say I don’t need to do anything [laugh]. You may want an extra blood sample from me but actually I am giving blood all the time anyway.When Heather and Julie were told they could get results about risk of future life threatening illnesses they felt that was a huge benefit to participating. But they understand why some people might not want to know.
When Heather and Julie were told they could get results about risk of future life threatening illnesses they felt that was a huge benefit to participating. But they understand why some people might not want to know.
Heather: Mmm.
Julie: If they found it would we want to be told? Or not be told? And I was like, "Wow, I didn’t know that there was somewhere where you could go and be tested for all these things. And yeah tell me. Tell me, if I’ve got something, tell me and then potentially I can do something to prevent it. Or at least I know what’s coming." But I can understand also people saying "Oh, I don’t really want to know." But for me, that was a huge benefit of being involved in the project, that I were getting an opportunity to be tested for things that , I wouldn’t even know how to go about getting tested for them if I wanted to be. So yeah definitely, I thought that was a huge benefit.
Heather: They just said that they would sequence the genome anyway, so while they were doing it they would do everything they can with that. So rather than just look for that one particular thing, they can look for all the different things. That everything that they could do with the sample that we’d given them, they would do with it. So I think they just tried to get the most out of it as they could, which - we were happy, more than happy with.
Julie: And did you feel the same as me, in that if you, they found that you’d got a breast cancer gene?
Heather: Oh yeah.
Julie: That you would want to know, would you?
Heather: Yeah. But I can also understand why you wouldn’t want to know. They asked about if it would affect our relatives, would we want them to tell them. And would we want it - what information we would want to be given to who, and. I can understand why people wouldn’t want that, and they need to ask those questions. So I think we’re quite happy and open, but other people wouldn’t be. So, I think it was, I think it was good that they asked us those questions.
Julie: Mmm. I just generally felt like that was a huge benefit that I didn’t realise was coming. And even if I’d have had a leaflet through the door saying you could come and have these tests, and find out if you had any of these genes, and its going to cost a hundred pounds or whatever, I would have seriously considered just going and having it, just for that anyway. So it was definitely something that I came away feeling positive about, thinking 'oh, this is really good - I’m really glad I’ve done that'.Emma was sure she wanted to know if she was at risk of developing health conditions, such as cancer, in the future. Her husband found it a harder decision to make.
Emma was sure she wanted to know if she was at risk of developing health conditions, such as cancer, in the future. Her husband found it a harder decision to make.
Yeah how do you feel about that? Sort of if you were to find out something like that, in addition to?
Mmm, and two others. As I said, I think I’d rather know. Because then I can take preventative, possibly. So if it was something like bowel, you know, I know what signs and symptoms to be aware of. If it was breast cancer genes, I might take you know, preventative surgery etc. But then again you think well some of them that they may tell you about you may never. But then, I know they certainly told us they would only tell us about things that can be treated at this point. That was one of the questions we asked. Although Mark and Julie know there is an agreement that they don’t have to disclose the results to insurance companies, except when taking out new policies, they worry this might change in the future.
Although Mark and Julie know there is an agreement that they don’t have to disclose the results to insurance companies, except when taking out new policies, they worry this might change in the future.
Right
Mark: So clearly you know with insurances you just don’t know do you, whether or not you’re meant to disclose as you go along but apparently the disclosures at the point of time that we took out the insurance were sufficient. It’s just as if you, if you took out a new one if you know what I mean in the future. So we understand that insurance companies we’re not obliged to in, to advise insurance companies but there’s some sort of conditions that the insurance companies have agreed to which come up for either renewal or they lapse in 2017. So, you know, still a little bit of a concern in the back of the head as to, you know, whether or not in 2017 they all turn around and say, “Well if anybody is having genetic counselling or indeed have had any tests done then they have to disclose the results.
Julie: I think because it’s a research project I think there was a thinking that they wouldn’t have to. There’s been a bit of an agreement with insurance companies.
Ok.
Mark: Yeah but it’s, at the moment that’s an agreement.
Julie: Yeah
Jenny: But it, but something could change in the future which
Ok so that’s something that is of concern for you.
Mark: Which is little bit of concern because it’s the unknown of course.
Ok.
Mark: Hopefully you know people will be sensible but you never know.
People we spoke to said that one of the reasons they were taking part in the project was to find out if future generations might be at higher risk of developing a health condition. Victoria, who has breast cancer, said, “It might not help me but it could possibly help my granddaughters… I’m trying to protect them.” Pam said that with two daughters, two son-in-laws, seven grandchildren and three great grandchildren, she hoped that by taking part this would “help their health in the future”.
Lucy Y is the only person in her family who has symptoms of EDS but she thinks the results could tell them if her family members or their children might be at risk.
Lucy Y is the only person in her family who has symptoms of EDS but she thinks the results could tell them if her family members or their children might be at risk.
That's interesting.
And that's why I used the genome project. It was - I have other members of my family that have dislocated joints, and bendy joints, and want to go down the route of having children. And if I can find out - because I'm the only one in the family that's got this condition. I had a Granny that had a muscular disorder, but in those days they didn't have EDS, and they didn't know about it. So I'm the only person that's displayed any symptoms, so we're trying to find out if it's me that's started it, or if it is actually in the whole family. In which case the other members of my family need to be careful when they have children, and how they look after themselves. That was the reason.Rebecca has breast cancer and talks about the benefits of her daughter being able to be screened for the breast cancer gene.
Rebecca has breast cancer and talks about the benefits of her daughter being able to be screened for the breast cancer gene.
But do you think you made the right decision to take part in the genome project?
Oh, absolutely I made, made the right decision. Because there is so much we don’t know, and so much people are finding out sort of in the last few years about genes that cause breast cancer, and what ages they cause them. And then we’re able to screen. For example, I found out I’ve got BRCA1. So I actually have, unbeknownst to me, I have a genetic problem that caused my breast cancer. Now, I have no history, no family history of breast cancer. Cos largely breast cancer occurs in women. And my family, funnily enough, is largely boys. So it didn’t show up. Now, had I been able to have a genetic test at 30, I could have electively had a mastectomy and the-, like Angelina Jolie, and therefore had a much better chance of being alive to see my grandchildren. Now, because we didn’t know, I didn’t know, I have less chance. My daughter’s been able to go and be screened for BRCA1. Fortunately she’s negative. But the ability to be able to be screened gave her power to make decisions, gave her power to make decisions over say her career, when she wanted her children. It gave her choices to have the freedom to, to now feel actually, because it’s negative, she can actually stop worrying about it. Whereas I think that would have worried her for a long period of time, thinking, “Oh, am I next? Is it going to be me? What do I do?” And now actually she’s been given a negative result and therefore, you know, she can feel that she can go forward and not worry about that quite so much.
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