Experiences of participating in the 100,000 Genomes Project

What people knew about the 100,000 Genomes project before taking part

We asked people whether they knew about the 100,000 Genomes Project before taking part. Awareness about genomics and the project itself varied. A few had seen leaflets or a poster in a hospital waiting room but most of the people we spoke with had not heard of the project before being invited to take part.

Before taking part Kay had not heard of the project, but now she is hearing more about it on social media and internet forums.

Before taking part Kay had not heard of the project, but now she is hearing more about it on social media and internet forums.

Age at interview: 35
Sex: Female
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I was a bit blown back by it all at first, bit blown away. Because I'd obviously never heard of it. So yeah, I was a bit –

So it's completely new to you?

Completely new, yeah. Yeah.

And did you find the information that you were sent understandable?

Not at first. But by going onto Twitter, I searched it through Twitter, and somebody on Twitter - I put a question about, you know, I really have no clue about what it is. Even though I'd read the letters, it just didn't sink in. So I spoke to - well, just sent a little message on the Twitter page that they have, and then somebody forwarded me a link which I think sent me to an internet link which explained in black and white, understandably.

So you hadn't heard anything about the 100,000 Genomes Project before. Have you sort of noticed that you're hearing more about it? Or are you still not, outside of your involvement?

I'm hearing more of it in on Facebook and Twitter. 

Right.

Whether it's because I search for it, I don't know. But prior to that, I'd never - never seen it anywhere, never heard of it. There's a few of the people in the forums that I go onto, regarding polycystic kidney disease forums, and there's a few people that are on it. They also sent me forward to Birmingham Children's hospital website, and then since being on there I've found them all talking about it, like all these other adults with children that are also put forward for it.
A few, like Lucy X, Stuart and Rebecca, had heard or read about it in the news or through a support group they belonged to that worked to raise awareness of and support for their condition. However, even those who had heard of it only had a “vague” understanding of what it was about. Rebecca had heard about it on BBC News – “they were trying to look for genes or something” - but didn’t know what it was trying to achieve.

Lucy Y had heard “whisperings” about the 100,000 Genomes Project, and understood it was about improving medical treatments.

Lucy Y had heard “whisperings” about the 100,000 Genomes Project, and understood it was about improving medical treatments.

Age at interview: 39
Sex: Female
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I'd heard whisperings about this genome project thing. But nothing, nothing hugely. I like to try and understand the conditions I've got. Because doctors don't understand it greatly, so you tend to try and manage it yourself. I did have a look at the genome. Ideas of like, you know, the two cloned sheep and things like that, you know, do pop into your head. But I trust that it's going to be used for the right purpose.

I believe that they've spent quite a few million pounds designing a building to hold the DNA. It's being run by the government. As far as I'm concerned it's for medical benefits, and medical benefit only. I don't mind pharmaceutical companies, as far as they're developing drugs to try and cure it or to manage it, or - cure is a weird word to use, but better drugs to manage it. Because people with EDS are like completely different to normal people. We react so differently to medicines and, and even eating food. Everything normal is not normal when you have EDS. Your body acts differently. So I trust them, that it's going to be used for that.
Several people were interested in genetics and medical research. Some had worked in a medical profession or had family who had studied science or medicine.

Being a nurse, Emma took an interest in news about medicine and so knew about the project. But her family had never heard of it.

Being a nurse, Emma took an interest in news about medicine and so knew about the project. But her family had never heard of it.

Age at interview: 40
Sex: Female
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Did you know much about the Hundred Thousand Genomes Project at that time? Had you ever?

No I think I’d read little bits about it in the media. Obviously because of my background, I tend to read more of the medical side of things [laugh], and I was aware of it. But it’s certainly not something I come across in my day to day work at all. My husband had certainly never heard of it at all. And most of the family have never heard of it at all. So we kind of thought it was interesting. We didn’t actually meet out geneticist face to face, she popped it in a letter for us. Which I think in some ways is good, because it gives you time to consider that, before actually you have to give a face to face answer. And it gave us time to do that research, to actually kind of say ‘do we want to open this can of worms?’ So to speak. 

Although Bart hadn’t heard of the project, his son works in science and he knows about the importance of genetic research.

Although Bart hadn’t heard of the project, his son works in science and he knows about the importance of genetic research.

Age at interview: 61
Sex: Male
Age at diagnosis: 60
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Had you heard of the 100,000 Genome Project before?

No I hadn’t.

No?

No, no but I was certainly aware of cancer research and certainly aware of, you know, through family, my sons own academic experience of working in science. He would have talked about it quite regularly. So no the importance of looking and studying family genes and how that impacts on the development of the human body and the immune sources and where these cancers come from. You know the modern age we all understand smoking is not very good for you but we’re all beginning to understand that air pollution is not very good for you either is it. So we can’t live in a bubble so if everybody signs up for it we’ve got a better chance of, you know, being where we need to be but everybody has got to play their part haven’t they.

Yeah so it was sort of your family background has this knowledge kind of

Yeah

Scientific knowledge.

That’s right and obviously I’ve got an academic leaning, you know, pull for it and we understand the impact of cancer of the immediate family, lost my mother and in other parts of the family we’ve had people who have, you know, suffered great distress and we’ve all lost uncles and aunts and cousins and I don’t think we are alone in that are we? Every family’s experiencing the same.

Stuart and his family have long been aware of genetic research through their involvement in a Primary Ciliary Dyskinesia support group. His family had been involved in other genetic research in the past.

Stuart and his family have long been aware of genetic research through their involvement in a Primary Ciliary Dyskinesia support group. His family had been involved in other genetic research in the past.

Age at interview: 52
Sex: Male
Age at diagnosis: 37
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A likely cure for PCD is genetic then we’ve known about what’s been going on in the worlds of genetic research all the time. So I think we were aware of it. So I can’t exactly remember. So it wasn’t a surprise when they mentioned it at [Eye hospital] because RP whilst it’s in… Visual impairment is actually quite common. I think it’s the second most common form of visual impairment. It is still in the scheme of things quite a rare disease and therefore it qualified to go on to the Pilot. And I think provided they had enough people on the pilot then that would be taken forward into the main project. So I think we were aware of it. Because of with, you know, with the boys and myself the likely cure is genetic then obviously we take a very firm interest. So having been approached about, ‘Would you like, would like to go on the study?’ The answer is, ‘Definitely.’ And my parents will be, they were just as supportive. And our sons prior to that have already had blood taken to be sequenced as part of the PCD research as well. So I wasn’t the first in our family to be. That’s not connected with it, the separate exercise but it’s, I wasn’t the first one in our family to get involved in something like this.
You can see more information about what genomic research is and what people wanted to know about the project elsewhere on this site. 

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