Jenny

Jenny was diagnosed with Dilated Cardiomyopathy when she was 6 weeks old. She agreed to take part in the 100,000 Genomes Project because she hopes it will be able to tell her why she has her condition and whether it is genetic. Knowing this is important for her as she and her partner are hoping to have children in the future.

Jenny was diagnosed with Dilated Cardiomyopathy when she was 6 weeks old. She was told about the 100,000 Genomes Project by her consultant at a check-up. Her parents were also asked to join the project.

Jenny had some questions about who has rights to her data, but wasn’t too worried by this. Jenny is happy for her data to be used for future research as that’s how things develop and progress. The main issue for her family when deciding to get involved was the guilt factor. Jenny thought it might be difficult for her parents to find out that she had inherited her condition from them, particularly if it was her mum. Her family discussed these worries with their genetics councillor before they agreed to take part.

Jenny joined the project as she hopes that it will reveal where her condition came from. She also hopes it will give her some more information about her particular type of Cardiomyopathy. The main reason she took part was to find out how likely she would be to pass her condition to her children. She says that this would not stop her from having children, but if she could avoid it she would. Jenny and her family were also excited that the project could be used to help other people in the future.

Jenny was given some legal documents to read before she joined the project. She and her parents read these documents together. Jenny found the information long winded and jargon filled. She thinks that the paperwork could be written in a way that is easier to understand. When she went to the hospital to donate her blood sample, the staff read through the paperwork again with her and her parents.

When Jenny read the paperwork, she also liked the idea that she could be tested for other conditions she may develop in the future. Jenny understood that she would only be told results of conditions that could be prevented or treated. Jenny felt this was good as you can look after yourself a bit better. She understood that Genomics England has an agreement where people do not have to tell their insurance companies their results. This was quite important in Jenny’s decision to take part.

Although she felt well informed about what was going to happen, Jenny was a bit surprised with how much blood was taken when she gave her sample. She found that the experience wasn’t a big deal, as she and her parents have all given blood samples before. Jenny felt the process of giving her sample was relaxed. She and her parents felt excited to sort of get an answer finally.

Genomics England told Jenny that she should receive her results within 6 months. She was later sent a letter saying it would take a further 6 months. Jenny felt disappointed when this happened. Overall Jenny describes taking part in the 100,000 Genomes Project as a good experience, and feels it has given her an opportunity to find out more about her condition.

Before she decides to have children, Jenny wants to find out if her dilated cardiomyopathy is genetic and she could pass it on to any children she has.

Age at interview 23

Gender Female

Well I was born with dilated cardiomyopathy. Well we think I was born with it. I was 6 weeks old when I got diagnosed. And we just never knew where it came from. So we’ve got no one else in the family that has got any signs of cardiomyopathy at all. So we just didn’t have a single clue. I mean no one could really tell us what caused it whether it, I was born with it or whether it was a, an infection. At such a young age you don’t really know. So yeah it was just one of those that it’d actually be really nice to, to know where it came from, especially for my own family planning and things like that. My partner and I do want to have children soon. So it’s just a case of thinking on really because there really is a 50% chance if it is genetic that I could pass it on. So yeah it would be, it would be good to know not that it would put me off but I think..

Ok

.it would be nice to know.

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Jenny thought it was good that it is only treatable conditions that she would be told about.

Age at interview 23

Gender Female

So you mentioned the other conditions that might, they’re going to. You’re going to opt in to knowing or you already have?

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.

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Jenny feels that taking part could potentially save her future child from having the same disease as her. But she thinks it’s a personal choice.

Age at interview 23

Gender Female

So do you have any messages or anything you want to tell people who are considering taking part and are not sure yet?

Well I think it’s personal choice at the end of the day but I certainly think it’s, it’s well worth doing. You know, at the end of the day it could potentially save my future child from having it, having the same disease as me. So that’s really, you know, it’s really important but like I say it is personal choice and it’s just weigh it all up.

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Jenny received an e-mail from her geneticist about the project and discussed it with her family.

Age at interview 23

Gender Female

So when they offered you to go and see the genetics person was that to confirm that your condition might be genetic or what was the kind of?

Yeah I think it was just to discuss genetics since it could be a genetic in-, inherited disease. I think it was just to discuss. I had bloods taken, genetic testing done I think around 2007/2008 and so they were banked. They banked some of my blood in, in [Town] here because it was, because they thought, you know, it could be but all those came back negative. But since then obviously it’s come out with a whole load more genes that could potentially cause the disease.

Yeah.

That they are now aware of. So it’s a case of re-testing and things like that.

Oh ok.

So yeah we’re just waiting, wait and see.

Ok. So we could talk about, let’s call it like your time line of being involved in the project. So you said you heard about it through the genetics?

Yeah, genetic testing

Yeah. So how did she approach you? What was her?

Well she took a family history and we did a chart, you know to map out your family members and, you know, relatives and things. And that showed that there wasn’t a clear genetic pattern going on, nothing that you can sort of clearly say, Oh that’s where it’s come from. So we were just curious really and because she was a part of recruiting people for the 100,000 Genome Project in [City] so she knew about the project and assumed that we could in fact qualify. So she didn’t say anything at the time but she went and checked the criteria and things and she e-mailed us shortly afterwards saying that we did qualify and would we, would we be willing to do it kind of thing but.

Oh, ok so in the e-mail that she sent you. Did she send you the information along with the pack?

Yeah, yeah, yeah all the information and things. And we read it. We read it to, the legal stuff [ha] with, as a family. We literally sat and read it all together because it was, it was a bit of a, it was worded pretty heavily [ha]. And so we had to sort of get our heads around that but no that was ok. And then we went and they read it through with us when we were, when we got there.

Did she mention the possibility of your mum and dad taking part as well at that point?

Yes, yeah, yeah. It was from the beginning it was the three of us would the 3 of us be willing to take part and if not would two, you know, me and maybe one of them if the other one didn’t want to and things like that. But yeah all three of us were happy to, to go ahead.

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Jenny thinks the information leaflet and consent form would be better if it was written in layman’s terms. But the health professional who went through it with her did a good job of explaining it.

Age at interview 23

Gender Female

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.

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Jenny worried about how participation would affect her parents if the results showed her condition was passed on from them.

Age at interview 23

Gender Female

But yeah I think there wasn’t anything in there that was too concerning, just general things really. You know, like if, if one person wanted to know did the others have to and things like, things like that but the main issue that we faced in deciding whether or not to do it was the guilt factor, with my parents. Because if it came back at either one of them had the same, the, c–, you know, perpetrating gene if you like then they’d feel quite guilty. And it was whether or not we would, I could put them through that because it was, you know.

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.

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