I think my experience has been very straightforward. It’s been very good for me to take part and I’d really recommend it. I think it’s, it’s our future. We need to look at how the future is, you know, everything is going to improve. And better things for, you know, better results for our families and children and people.

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.

Could the process be improved?

No I don’t think so. It seemed very simple at the time. The only thing that I do think like now we’re talking it through I do think perhaps if I’d have had time afterwards to think about the layers I might have been a bit more reticent. So but then like I’ve just said, how would we get the information in the end anyway. So it’s a catch 22 isn’t it. You know. So I do think it’s very well explained and the ti-. When you’re there the people doing the interview with you are very laid back, very, you know, there’s no rush. There’s no pressure. It’s all done very well. I’ve got to be fair. They’re very well trained.

How did you sort of feel afterwards or?

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.

I would really rather they did a separate one for cancer [laugh] honestly. Because I don’t – I really – I think it’s absolutely astonishing that although Down’s syndrome is obviously a chromosomal difference, etc., so it can be mapped – if you lump Down’s syndrome in with cancer, you’re saying ‘your beautiful baby, who happens to have Down’s syndrome, is just as much of a catastrophe as your hideous tumour. And I think that’s really problematic. I think there’s a massive difference between disease, and life threatening hideous disease and disability, or a difference in that way. Because I don’t believe that children with Down’s syndrome are necessarily disabled at all, I think they’re disabled by other people’s attitudes, but actually if I had a kid with Down’s syndrome I’d be – I’d be perfectly happy. I wouldn’t have any – I wouldn’t care, I wouldn’t care. That would be my beautiful baby, and – you know – I’ve got a cousin with learning disability, with a genetic condition, and she’s just – she’s just somebody in our family. So I think the politics of ableism is something which is poorly understood by medical people. And even though all sorts of different things are expressed on, on the genes, they’re not all the same. Autism isn’t a tragedy. Down’s syndrome isn’t a tragedy. Fragile X isn’t a tragedy. All those things. And all those things that you can’t label – you know – not tragedy. But my 25 year old son dying of cancer was a monumental tragedy, which I would have done anything to prevent.

I’ve sat with one or two in the waiting room and I, we were talking about it and one or two have said, Well, they didn’t ask me. Well, how did they choose you? I says, Don’t ask me. I don’t know nothing about that part of it. So-

Okay. So, so that’s interesting. Because do you think they should explain a little bit, I don’t know, on their website about why some people are chosen?

Yeah.

Why do you think, because-

Well, I’ve no idea. And I mean one or two said to me they were quite disappointed that they hadn’t been asked. Cos they would have probably joined it. And I, they said to me, Well, how do they choose? I says, I’ve no idea. I said, I just presumed that they asked everybody. And then I spoke to quite a few people who, who’ve not been even asked to join it, and one or two think to themselves, Well, why, why have you been asked and not me? And, you know, and I said, I’ve no idea how it works. I said, you know, Just no idea how it works. So I’ve no idea why they ask some and not others. So-

I think it would have been good to come to it with a, with a prior knowledge of it, rather than being approached at that point. So maybe some posters up, a Facebook campaign, some social media sort of going on and then people might be a bit more aware. Other than that, it’s fine. I think, you know, sort of at the end of the consultation then to have, to be shown about, about that would be fine also. And even at the pre-assessment, you know, that could be a good place where, you know, you could have posters up, you could have leaflets around, you could have people being asked there as well. Because I think then you’ve got the idea, yes, you’ve got the cancer, so you’re not quite as alarmed. You’re going for a consultation on preparing for surgery. So that’s in your mind, you’re having the surgery, you’re preparing for the surgery, and now, What can be done? sort of thing. Whereas at the consultation with the consultant, it’s, Oh, my goodness, it’s positive. I’ve got cancer. Oh, I’m going to have surgery. Oh, my goodness. You know, that’s what you’re thinking about. You’re not actually thinking, you, you’re not actually thinking about the surgery itself perhaps, you’re thinking about the cancer, you know, whether you’re going to survive, all those things. And that’s very, very alarming. Whereas maybe doing it at a pre-assessment might be a better time, because you’re thinking about the surgery and what happens during the surgery. So you’re talking about, you know, the anaesthetic, you’re talking about what happens after surgery, you’re talking about what happens during surgery. And the nurse is explaining that to you. So maybe that’s the time that they say, Oh, by the way, and when you’re asleep, you know, maybe, we’ll take the cancer out and maybe what we can do is take that cancer and send it to some researchers. That would be a very logical place I think to put the consultation.

Well, I think that a lot of people will be given that leaflet and they won’t bother reading it. And they’ll just go home and put it on the table and they’ll just forget all about it. And because they’ve not read it and they don’t understand it, they just say, Well, no they wouldn’t bother. Because I sat with a lady that said, that actually said that to me, that, you know, she said that, Well, I didn’t bother. She says, Cos I couldn’t be bothered to s-, read that leaflet and I weren’t, didn’t understand it anyway. So-

So she was also invited to join, to take part?

Yeah, but she didn’t because she didn’t understand it.

Okay.

And if you read the leaflet, you know, I mean it’s not a bad leaflet but I don’t think they un-, I don’t think it’s worded very well. You know, I think it needs to be in plainer English really.

Okay. So it’s difficult, some of the wording? Okay.

Yeah. I mean not everybody is, you know, as, as intelligent as, as probably me. You know what I mean? You know, but I think word of mouth’s better than just you being given a leaflet.

Okay. So you would have preferred more explanation with people talking to you about what it’s all about?

I mean when the ladies came here to talk to me about it after I’d decided to join, they, that was very good cos they did explain it. But I think that you want explaining it right from the off. Because if you’re not explained it right from when they ask you, because you’ve got all this cancer going on and everything else, you think, Oh, you can’t be bothering with that. You know what I mean?

Yeah.

You know, so I think if it were explained to you, if they asked you about it and then they probably took your n-, and somebody explained what it was, I think a lot more people would be happier to join it. You know what I mean?

The actual materials that are sent out, the information sheet it’s all very jargony and it’s all very, it’s worded like a lawyer and it’s difficult to get your head around first read and it’s quite, it’s quite, quite a lot to read. So I think that could be sort of dumbed down a little bit. It’s the way it’s worded I think needs to be looked at because it’s not for, for everyone. But they did a good job at, you know, talking us through each, each bit and so we made sure we definitely understood what they were saying.

Would you have liked more time ideally to have before? Or did you think it was a good sort of thing to just do before the operation?

Probably I would’ve liked more time to study the information that I’d got, so that I knew exactly what was going to happen. But she was a very, very nice lady, and she did roughly explain what was going to happen. Not in any great detail of course, but I was – she told me enough to convince me that I was doing a good thing.

Yes. Yeah, okay. And do you have any messages for Genomics England about your experience of taking part in the project?

The only thing I would say would be that it would be nice to know what they plan to do, what I planned to partake in, all the details, a bit earlier. So that I did have the chance to read all the information

Yeah.

– So I knew in great detail what was going on. But that’s the only thing.

Yeah, so you would’ve liked a little bit more time, just to

Yes, yes.

– to digest what you were going to take part in?

Yes, yes I would’ve.

Yeah.

Even if it was only a few hours.

And what sort of information did they give you, in terms of like – about the sample that they wanted to take, and things like that? Did they talk to you about that?

No not really. No I mean I, they, they just talked through the leaflet.

Yeah.

There’s lots of things that you know, that I signed up for, if you like [laugh].

Yeah.

I’m not a great – I suppose in a way I’m not a great questioner. You know, I tend to let things just go, in a way. So I don’st tend to. And I thought afterwards, I mean some of the questions that they say in the Macmillan booklet – I didn’st ask any of those. I just, I just took it. And, you know. So in a way I accepted what was on the leaflets, without actually going into too much detail, if you like [laugh]. So. Which maybe wasn’st the right thing. And another thing is of course your mind is still on the, the fact that your diagnosis, and you know, what’s going to happen in, in the future, in a way.

And is there anything about the whole process of taking part that you think could be improved at all?

[Sigh] I think maybe it would be easier if, if you were given this and able to take it away without having any, you know. And then going back, and maybe going through it. Rather than sort of – I know, I know that there was no pressure. But in a way I think they wanted me to fill it out. They’sd got me and they wanted me to [laughing], to do it. If you know what I mean, but.

Yes.

I think perhaps if you take it home and then read it all.

Mmm.

And then – whether that would of made any difference. I don’st think it probably would actually, I think I probably would have still.

Still done it.

Still done it, so.

Did you feel it was quite sort of, a little bit pressured? That you were sort of?

Mmm. A little bit, not too much though.

Mmm.

Because I’sve got a tongue in my head. I could’sve said, “Look, you know, can I not do this now? I want to take it away.”

Yeah.

And I didn’st do that, so you know, that, that’s my thing.

Yes.

And I didn’st say anything, so.

Did you discuss taking part with him?

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.

I think the other thing perhaps is obviously regarding siblings, there’s very little thoughts on that at the moment. And we kind of said, “Look we wouldn’t want her involved, unless anything was found.” And they’ve said. “Oh, we wouldn’t actually invite her at this point.” And I think there’s a need perhaps for recognition of the wider family. That actually the decisions we make may affect other, other members of the family. And I think we almost thought there might be some kind of genetic counselling go on. Which actually we’ve never had. So while, while I understand the implications, perhaps my husband didn’t quite so much. And I think that’s something that might help, just to have somebody who understands this stuff sit down with a family, and say, “Look, this is what’s going to go on. Actually if we find something it may impact on others, and are you ready for that discussion to be had?” And I think that would be really helpful. Mmm. Mmm.

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.

The only thing I didn’t like as I said to you before was getting phial after phial of blood. I said, Hey you’ve got about an armful now. And that was beginning to be a little bit stressful to me when the needle was in for a very long time but there you go. It was over and done with. And I understood that they needed the blood for different places for different reasons to check so all in a good cause. And once I’d given the blood they said they wouldn’t want anymore. And then I had to do the spit into my which was difficult because I was very, very thirsty and dry but I got enough, just enough up to the marker for them to do a DNA. I wondered at the time if I would ever know the result of that DNA. Could I buy the result of the DNA to know where I came from etc. etc. You know I think I’m half Scottish and half Welsh but my, the rest of it. So I think I’m Celtic but the rest of it’s a mystery so. There you go.

Was it quite a short appointment then? Or, you went into the room and then

It was about an hour, all in all. But I think most of that actually was battling [laugh] to take the blood from us. Yeah, it was quite a difficult and also things like play specialists would have been so helpful for us.

Because one of us was trying to battle with our son, and keep him amused.

Yeah.

Because obviously he doesn’t understand what’s going on, he doesn’t really like meetings at all. And while we could bring a toy in out of the waiting room, just to of had an understanding that there are children coming in, and to put toys they can play with, and somebody to keep them occupied so you can both understand what’s going on. But actually it meant that one of us was constantly entertaining [our son], and the other one was trying to take in what was being said. And that again would have been helpful, to allow us both to focus on what was going on.

Yeah, so on reflection it sounds like there’s a number of things that could’ve actually been – maybe quite simple things that could’ve been –

Absolutely. It wouldn’t have been you know, hugely expensive at all, but perhaps for the younger children that are involved in the study would have made a real difference to our experience of it. Mmm.

What happened with that?

That was a little bit unfortunate. Well they were supposed to take the blood sample at my pre-op, but my breast cancer nurse forgot to refer me. I think there were a couple of guys at the [name] Hospital who are based there, who were taking – I think I was supposed to meet them at the pre-op, and sign the consent forms. And then the blood samples would be taken at that point. But I’d got missed off. So I then arranged – the breast cancer nurse arranged another – on the morning of my operation, that they would come to the day-case unit and I would sign it there. And that was fine. And they took tumour samples I guess, from the operation. And they – after the operation they tried to take some blood from me while I was still under the aesthetic but it didn’t work because I was so dehydrated. And then they had to try again during my recovery. And I became really ill. That was a bit unfortunate. It was just a mishap, because would it have been done at the pre-op it would’ve been fine.

Yeah.

That was the only downside that was a bit annoying. And then having to deal with the stress – not much of a stress, but you have the operation and then you have to, have to go to nuclear medicine. I had to go to a day-case unit. I had to meet these guys. All like within an hour.

Yeah.

That sort of – that could’ve been done beforehand, would’ve been a bit easier.

Do you see any ways in which the process of, could be improved? More information perhaps or?

Well I guess it would be good to be kept informed as to what use was being made of my blood samples, my spit, [huh] Where, where is it now? What’s happening? Have the already discovered something that I might benefit by knowing? I don’t know but I feel that there’s a big gap now between, yes between what was given that day and what I was told on that day. I would. I’m quite happy now that you’ve contacted me because I was thinking, I wonder what’s happening with that Genome Project. So I think a little more information would be useful.

And to keep in touch with you?

Yes.

Ok in which way? To receive a phone call or to get a letter?

Letters are good. Phone calls can disappear in the, in the air as it were and I might forget details but a written, a written word is there forever, you know, and I quite like to have my little health file kept for future reference and I like to read the words, yes.

Ok so a sort of, kind of make this communication ongoing and for people that took part to be kept informed about where they are at and maybe what the next step will be?

Yes.

Something like that?

Something like that, yes.

Ok.

I, and I would I hope that I would be given the opportunity eventually to know what my DNA was saying about me. Why, why was I well until I was 80 and then suddenly I get, well. I know it’s age but until I was 80 nothing and then from 80 I get a hiatus hernia. I get acid reflux.

The only thing I would say about the whole of this is that I was told originally I’d get back my information in three months. Which is what the normal DNA testing is. Because by giving my DNA, I was under the understanding that they’d look for those genes for me, you know, as – as well as the genome project, that those genes, they – they would have said “Look, can you just have a look at these genes first, because this is – you know – what we think is the area.” I’ve been about a year and four months. I got told – I phoned up the genome project and was told they were sequencing in December. It’s the waiting. And it, there’s no feedback from anybody as to how long. Or the timescales of it. That’s the only thing that I think is quite harsh. And also was the – I don’t mind doing the research side of things, but there are personal reasons for me doing it as well. And at the moment those personal side of things aren’t being met.

But I wouldn’t have minded doing the genome project anyway, if that makes sense? Because I think the research is good, and you need to be able to do it. But for me, I wanted something out of it as well. Which might sound selfish. But I just wanted to know what was going on with my DNA, so I knew whether or not we could have the rest of the family tested then, to see if they’ve got faulty DNA like me, and things like that. So that, that’s. Yeah.

Is there any messages that you would give to Genomics England, the 100,000 Genomes Project?

Mmm, stay in touch [laughing]. Please get in touch, let me know. I don’t know. I think also feeding back to people. Like you don’t forget that you’ve taken part in the study, and you hear it on the news a lot. But I think when I went to this Rare Disease day – and that was in Wales, so presumably – I don’t think, I don’t know if Wales are taking part in a different one, but hearing this speaker talk about everything that had been, you know, that you could now screen for, that was really kind of moving. And then – and then you feel incentivised to contribute more, sort of in future studies and things like that. Because you feel that you’re giving back into something that’s going to tell people more about health, and yeah – and help people sort of get a faster diagnosis, hopefully.

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’st found anything. Just to let us know that you’sre out there, and that you’sre doing it. A quick email, just to say we’sve still got your samples, you know, any concerns get in touch – that sort of thing. I think the fact that we know that we’sre not going to have any contact from them

Heather: Yeah, they could send us a bit more information couldn’st they. We’sve not, since we gave the samples, we’sve 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’sve found so far, or this is what we haven’st found. Or even general information. They could say about now this is what we’sre doing, and this is how we’sre trying to make the project better know, or this is what we’sre trying to do with the results we’sre 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’st really found anything. I’sd just like to know they’sre still there and they’sre still doing it, and.

Heather: It doesn’st 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’sve found this many results, or we’sre at this stage in the project now, and we’sre grateful that you took part.

Julie: I completely agree with that.

Yeah. So far, I think more communication. I think. I don’t think we get much communication, in terms of like how long the process could be, or should be. So for someone who’s pretty new to it all, I don’t know whether I just sit and wait, or whether I should get onto them. You know, and ask more questions. So I think because of we’ve not really had much communication about it, I’ve got the info, I just need to know the process of, of getting like the samples, and appointments and stuff like that. I don’t know whether I should wait, or whether I should phone and ask.

Yeah I mean I think it’s fantastic work that goes on. I wish I knew more about it. I wish I understood technically what it is all about but I don’t need to but I would just urge everybody in my position to sign up for it because the more people that get involved the more information, the more data, the more experimentation that can take place will lead to the breakthroughs that we all so desperately need. And I’m looking forward but I know I won’t be here for much more than that but 10, 20, 30 years and we could be living a very different world regarding cancer. Something else might come and takes its place but in the meantime it’s been a curse and in my own family we’ve lost loved ones. And it would be lovely to think of the world with professionals working the way that they do it will be eradicated just as soon as humanly possible. I don’t think we are that far away.

I would say I think they could learn a lot of lessons from the transplant service actually. That every gift they receive is treated exactly as that, as a gift. And you know there is thanks given, and they are made to be the absolute centre of what is going on. And I think Genomics England could learn a huge amount from the way they approach it, that every person who volunteers for this study is giving you a gift. That they are giving you access to their personal data. And they are allowing you to build medical knowledge forward. So I think they need to be respectful of that decision that people have made. I think they need to make sure that we’re being fed back the information on what’s going to happen. And also kept informed. And just things made as easy as possible for people to become involved. Because it is hugely stressful. It’s a really personal decision that people have to make, and I think they should – yeah, just treat people as individuals.

Edward: I think – I mean, if I had to say anything, it would just be more public awareness. People trust more things they’re already aware of. I, I didn’t even know about it until I was asked about it. You know, I was more than happy to take part in something that would benefit research. But I think it would be good if people generally – even if they’re not going to participate – knew that it existed before they were potentially asked to sign up for it.

Sheila: Mmm.

Edward: Perhaps a little bit more presence. Even if it’s just outreach to news media, or a newspaper, just so people know that it exists.

Sheila: Or even in hospitals

Edward: Sort of gets rid of

Sheila: – you know, if you go, you’re aware that it’s going on. You may not be invited, but you know it’s there. Because if you don’t really know about it –

Edward: But then it sounds like some sort of shadowy secretive organisation within an organisation. It just gets rid of that kind of mystique, if people know about it.

Sheila: Yeah.

*Text altered for the website.

How I feel you could better things, is maybe in the waiting areas have a board, or some literature that could be read while people are waiting. Because we have to wait for some considerable time on occasions. And that would possibly be a good thing. To have in the hospitals. And even in doctor’s surgeries. Because that is your first port of call when you have a problem like this. So, get them early, that’s my thing.

Mmm.

You know? I know it costs money to print these leaflets and such, but – you know – even if it was just a small card that someone could pick up, like we used to for kidney donations and things like that, you know? That people could then go onto your website and find out a little bit more about what you’re actually doing.

I’d like it to be more known, and more known what you’re finding out. So that, you know, I can say, Oh, I took part in that, and they found out this. So updates, maybe, maybe you could have more bulletins on the, the BBC News. So, you know, a little snippet of what you’ve found out this year. Or, or put it on the Cancer Research website. That would be a good place to put it. So we can look and sort of see, Oh, you know, they are doing research. They are finding out these things, and it’s led to this. Because otherwise we, we think, Oh, that was just in isolation and they didn’t find anything out. And actually you could be finding out loads of stuff that’s fed in to other cancer research stuff and they’ve utilised that knowledge to go on to make another drug. But we only see that drug being made. We don’t see the knowledge that had been gained right back when, when we started the genomes.