Experiences of participating in the 100,000 Genomes Project
Concerns with taking part in the 100,000 Genomes Project
Some people had very few concerns about taking part in the project, while others worried about what the results would mean for them and about future use and disclosure of their data. Looking back, some people also had suggestions for Health professionals and for Genomics England about how to improve the process, such as the timing of being asked and feedback about their results.
Linda found taking part was “straightforward” and she would “recommend” it to others.
Linda found taking part was “straightforward” and she would “recommend” it to others.
I would like to say how the whole process has been very straightforward. It’s been easy to follow and again I think, you know, again the support I’ve had. The support that also I had at the hospital with it all being explained and follow up, I think it’s been very good. I really do.Emma had to travel to a specialist centre to participate and thinks some of the logistics need “ironing out”. But taking part in the 100,000 Genomes Project makes Emma and her family feel they’ve been part of something “bigger”.
Emma had to travel to a specialist centre to participate and thinks some of the logistics need “ironing out”. But taking part in the 100,000 Genomes Project makes Emma and her family feel they’ve been part of something “bigger”.
I think we were exhausted. Absolutely exhausted.
Yeah.
Physically, from kind of scrapping with our son. But also mentally, strangely - I think we were very, very tired afterwards. And the fact it’s such a long way for us. We’re an hour and a half away from our genetics centre. So to have had the ability to do it locally would have been hugely helpful. And we appreciate you know, it’s very specialised, but actually we didn’t need to be in [place] for this at all. So perhaps you know, travelling to meet patients and their families would be - again, a small thing perhaps - but would’ve made a real difference to us. But it meant that we’d had an hour and a half journey. Then obviously this really stressful appointment, and then an hour and a half back. Makes a very long day. A very long day. Yeah.
I think we’re glad we’re involved. Very much so. I think we feel part of something a bit bigger. Which yeah, is an interesting place to be, I think. On the whole, I would say it’s been a positive experience. We do feel like we’re doing something. Which I think - the ability to have some control over what’s going on is hugely important. Particularly with families with children with no diagnosis or adults with no diagnosis, the ability to kind of feel like you’re doing something, is really important. I think there are lessons that the hospitals, geneticists and Genomics England can learn, and improve going forward for us all. Negatives I think are more logistical at this point. About kind of ironing out the system, making sure the information it out there for us all. Because I think there are parents with a thirst for that information, and it’s just not there at this point. But yeah, I think on the whole we would do it again.
As well as finding out more about their condition, results from the project could give information about whether a person’s condition is inherited – and therefore whether it can be passed on or affect other members of the family. People could also opt for additional (secondary) information about some inherited genetic problems (other than the cancer or rare condition that led them to participate in the project) that they might have or be predisposed to in the future. Some people we spoke to were concerned about what those results might mean for them and their family.
Genomics England will only test for specific inherited conditions (you can see the list of conditions on the ‘results’ pages of the Genomics England website). But people seemed to think that they might be given information about a whole range of possible illnesses. People worried about how they would deal with results that showed they were at risk of future possible illnesses. Family members sometimes disagreed about whether it was better to know. Emma said that she was very clear that she would want to know, but her husband was less keen.
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.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.Jenny worried about how participation would affect her parents if the results showed her condition was passed on from them.
Jenny worried about how participation would affect her parents if the results showed her condition was passed on from them.
Ok
That was the only other thing because I think that’s difficult to know I think. If it’s. If you can think, “Oh it’s my fault.” But you know.
Ok and that was something that they had brought up?
No it’s something I brought up yeah because I know, I know that my mum in particular would take it quite hard if that was to be the case. So I had to make sure they were happy to know before we sort of went and did that.
Ok
But yeah we’ve. I think we’ve worked around that one [ha].
The guilt factor [laugh].
Yeah [laugh].
[Laugh] That’s quite . Yeah I think, I think I understand what you mean by the guilt factor. So is it kind of to do with responsibility or?
Yeah, yeah. I think if you find out that you’ve passed on a gene that’s mutated into something that’s or, you know, that’s cause a harmful disease to your child you will feel guilty aren’t you. You will feel a bit rubbish. So you, I didn’t want either of them to take on a personal responsibility for that.
Ok. So was that a factor that you discussed with your either the genetics lady?
Genetics counsellor yeah we did discuss it with her. Yeah but we decided that obviously it wouldn’t be viewed by me certainly as that and it’s just about moving forward. Is there anything I need to know in planning for my own children and things like that and. Yeah so we decided that it was, was worth it and we should just, you know, not really dwell on that side of it.
Given that people were trusting Genomics England with samples of their DNA, some people felt concerned about who might have access to their personal data in the future. Lucy X and Stuart worried that data may be shared or used in the future for something it was not intended for. Some people were concerned about how personal genomic data could be “manipulated” in some “bigger way” in the future. Emma said, “We’ve all watched the sci-fi movies […] and you think actually are we going to start making decisions based on people's DNA code?” She also wonders about the impact of Brexit on future data protection laws. Nicola questioned the “ethical underpinning” of the project because she has “real political objections to mapping people's genome and getting rid of things like autism, Down's syndrome”.
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.
A common concern mentioned by people we spoke to was that they might have to disclose any results from participating in the project to insurance companies and that this might result in higher premiums or being denied cover. Genomics England have responded to participants’ concerns around insurance on their website (see our Resources page).
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.Leanne understands that there is an agreement about not disclosing information to insurance companies. But she worries that might change in the future.
Leanne understands that there is an agreement about not disclosing information to insurance companies. But she worries that might change in the future.
Aileen was reassured that she wouldn’t have to disclose any results from the project to travel insurance companies.
Aileen was reassured that she wouldn’t have to disclose any results from the project to travel insurance companies.
Exactly.
But I was reassured. It states in the information that actually you come to an agreement that it doesn’t affect travel insurance. So that’s actually, you know, part of the consent form. So that was reassuring to me that actually I don’t have to disclose any information.
Despite these concerns, people often wanted to participate and talked about their hopes and expectations of participating in the project. Lucy X felt that the benefits of taking part outweighed any risks and Leanne said, “The need for an answer,” for her and her family was greater than any worries she had. Aileen found it reassuring that she wouldn’t be told about potential diseases she was at risk of in future unless they were treatable.
Some people felt the extra knowledge about genomic research and science which they had helped them weigh up the costs and benefits of participating.
Heather and Julie feel they have a rough idea of the pros and cons of the project because of their knowledge about science.
Heather and Julie feel they have a rough idea of the pros and cons of the project because of their knowledge about science.
Heather: Not for us I don’t think. Just if they don’t find any answers, and they've got to close it off. But even then, they might find answers, as I said, fifteen, twenty, thirty years down the line.
Julie: Mmm.
Heather: They might find something else that pops up. They might ask us again.
Julie: I think, being asked that question makes me think about developments genetically where they’re trying to develop things that maybe aren’t natural. And I would definitely want to - if I thought that that might be something that had come from our samples, unlikely I know, but if I thought that, I would just want to know more information about it first. I think we’re quite scientific people anyway, so we’d be more positive about those advances and trying those things, than we would like 'oh that’s not natural, don’t do that'.
Julie: I think we would be like –
Heather: I think we’re just quite knowledgeable about it. In, I don’t think we know everything about it, I’m not saying that. But I think in general when I think about all the different people taking part in this project, there will be some people out there that don’t know much about it, and aren’t very interested in the science side of it, that it's just not there thing. Whereas it is our kind of thing, and we’ve done a lot of research into it. And we are quite knowledgeable in science in general, and different test that can be done. And I think we trust them, because we know a bit more about it. So I think we, we have a rough idea of the pros and cons of those kind of things anyway, and we do tend to be a bit more sciencey in our views, so.
Julie: And realistic, I think. I think people are scared a bit, but I think people are scared of the unknown.
Heather: Yeah, but realistic for different people mean different things.
Julie: Right. Yeah.
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