Experiences of participating in the 100,000 Genomes Project
Giving a sample to the 100,000 Genomes Project
Taking part in the 100,000 Genomes Project involves giving small samples of blood or sometimes saliva. Cancer patients also give a small piece of the tissue from their tumour. You can read more about how these are used here. Samples could be taken very soon after people consented to participate in the project or it could be some weeks/months later. For example for participants from the cancer arm of the project tissue samples would not be taken until they had their surgery to remove cancerous tissues, and for those from the rare diseases arm of the project it could take time to arrange an appointment when the participant and their family members were available. Kay and her family were invited to take part in the study during a meeting with her son’s consultant and were waiting to hear when their blood samples would be taken. Once the samples are taken it takes time to analyse them and people can wait one to two years before getting any results.
Kath gave a blood sample and had a saliva sample taken. She hasn’t had any results.
Kath gave a blood sample and had a saliva sample taken. She hasn’t had any results.
Yeah, that’s all. I’ve only donated tissue. That’s all.
Okay. Blood samples?
Yeah, I, they did blood samples when they, they did that when they came here.
Okay.
Yeah, they, and they did a mouth swab as well, yeah.
Okay. And were they explaining to you why they were doing those, the blood, taking blood and doing the mouth swab?
Yeah, yeah, it’s all to do with the DNA, that is, yeah.
Okay. And what, did they talk about you getting results, or not, about this?
No. That were another thing that I were disappointed about. You don’t get no results or anything about, you don’t, once you’ve given your blood and your tissue and everything else, you don’t get no comeback from it at all. And that’s what disappointed me as well. I were a bit disappointed about that.Barbara didn’t mind tissue samples from her womb cancer being taken during an operation.
Barbara didn’t mind tissue samples from her womb cancer being taken during an operation.
Right. Yeah. So you gave a sample, or you think that the sample –
I think that’s, I think so. I think a blood test was. I think she said to me that that would probably, that would likely happen while, while I was under the anaesthetic. So - I mean you obviously don’t know about it so [laughing].
Yeah. And in terms of the sample, you said about tissue?
Yes. I think that she did tell me that that would be going to the lab, you know. Some obviously goes to the lab anyway, in the hospital, but then some would go over, wherever.
And how do you feel about that? Sort of donating, or obviously it was tissue from the womb?
Yeah that’s - I don’t have any problem with that at all. I think that’s fair enough. You know. You want to find out things then you’ve got to be able to have the process of being able to do it haven’t you?Birgit’s breast cancer nurse forgot to refer her for the project and her blood sample was taken after her operation, which caused some stress.
Birgit’s breast cancer nurse forgot to refer her for the project and her blood sample was taken after her operation, which caused some stress.
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.Leanne, whose daughter has an unidentified genetic condition, travelled with her daughter and partner to a London hospital to sign consent forms and have blood taken.
Leanne, whose daughter has an unidentified genetic condition, travelled with her daughter and partner to a London hospital to sign consent forms and have blood taken.
There were several like families all already there. You were given, I think it was between like nine and eleven, eleven and one. To break the journey for [Daughter], we went down the night before. So we aimed for the nine to eleven. You basically went into the [research clinic], you were checked in. Signed a few forms. I will have the copies. And you literally sort of waited your turn to, to go in and have the blood taken. And then you, you saw [Doctor]. Yeah.
What happened in that appointment and after then?
Just discussed, you know, saying "Before we send the samples off, this is what we hope it'll be. What did you think?" You know, "What are you - basically, what are you expecting?" And the information that come through did say, you know, you will get something back. But like I say, of course we want that. We want the feedback. But we also knew that it's not been done before, so there were every chance that actually we might not get anything.Aileen said the process of giving a sample was very easy as blood samples were taken the same time as her pre-op assessment blood tests and a tissue sample was taken during her operation while she was under anaesthetic.
Aileen said the process of giving a sample was very easy as blood samples were taken the same time as her pre-op assessment blood tests and a tissue sample was taken during her operation while she was under anaesthetic.
Both Lucy X and her mum gave a blood sample separately. She describes it as “a bit of an anti-climax”.
Both Lucy X and her mum gave a blood sample separately. She describes it as “a bit of an anti-climax”.
And what happened? So, what happened?
[Laughing] bit of an anti-climax, to be honest. Because they just came, they just took my blood, like any other blood test really. And then they had to take a sample of my Mum's blood as well. But because I was in [Town], but I'm from west Wales, so my Mum's there. So, she just had a blood test at the doctor, and they sent it off. My Dad died when I was younger, so sort of there was only one parent that could give the blood to go for it. But yeah, both of us found it really, really easy.Pauline is used to having regular blood tests because she is taking methotrexate for her arthritis, so she didn’t mind giving a blood sample for the 100,000 Genomes project
Pauline is used to having regular blood tests because she is taking methotrexate for her arthritis, so she didn’t mind giving a blood sample for the 100,000 Genomes project
They someone. I spoke to someone about it while it was at the hospital on one of the consultations, and she said, "Do you mind if I have a blood test?" Yes.
And was that for the 100,000 Genomes Project?
Yes, Yes. Yes that was for that. I said I didn’t mind.
Yes. Yeah. And -
I’m used to having blood tests.
Yes.
I take methotrexate for my arthritis. So I have - I have to have regular blood tests. And at the moment, since I’ve had this operation, I’m having them once a fortnight.
Oh, quite frequently then?
Yes. Yes.
So it was just another blood sample to give?
It’s - I think it’s just something they keep their eye on once you’ve had the radiotherapy.
Yeah.
I think it’s after - after you’ve had that they do the blood tests, so.
Yes.
I don’t know for how long. They’ve not told me for long I’ll have to keep going for them. But I go to the surgery.
Ah.
At [place].
Oh, quite local then?
Yes.
Oh that’s good. And the 100,000 Genomes Project, that blood test - that was done in the hospital, was it?
That was done in the hospital yes.
Yeah.
But she did tell me it was for that.
Ah, okay.
She said, "Do you mind if I - if I have a blood sample?" And she went with me to to the - in the hospital, to the - where they take the blood samples. Yes.
And she came with you, and?
Yes, and she took the sample away.
Okay.
Whoever it was.Betty was surprised at how much blood was taken. She also said her mouth was dry when they took a saliva sample.
Betty was surprised at how much blood was taken. She also said her mouth was dry when they took a saliva sample.
Lucy Z was pleased that her blood samples were taken at the same time as her pre-op assessment blood samples.
Lucy Z was pleased that her blood samples were taken at the same time as her pre-op assessment blood samples.
Yeah.
So she took those bloods and that was it. I just agreed to allowing them to take part of my stuff [laughing], after the surgery. During the surgery they took, took material, you know, from my womb. Part of - a sort of biopsy for their own, their own uses.
Yeah.
As well as what was taken, you know, for - by the surgeons.
And so did you then have to sign things?
Yeah.
What happened then?
I think I copied - this was the consent form that I had to fill in.
Oh yeah.
When she took my bloods.
Oh, so she took your bloods there and then?
She took my bloods. She did all the bloods. Because she was a nurse.
Yeah.
I didn’t need to have two sessions where they took blood. She just did five with one, you know, continuously with one thing.
Yeah.
Which was quite practical.
Yeah.
Because I thought I was going to have to have.
Another.
Two sessions in two different rooms with two different people. You know, one in one arm and one in the other arm, but it was all taken from one.
Okay. So it was the same nurse that you saw for the interview?
So that was quite good. The same nurse. No that was the - that was, it was this nurse. The nurse who gave me the genomes. [Name].
Yeah.
She did the, took the bloods, herself.
Ah okay, yeah.
And then - so she took the ones she required, and then she gave the other ones to the department for their needs.
Oh okay.
Which were, you know, the pre-op assessment needs. Yeah. Emma, her husband and son had their blood samples taken at the genetics centre an hour and a half from home. They weren’t prepared for how much blood was taken and felt “exhausted” afterwards.
Emma, her husband and son had their blood samples taken at the genetics centre an hour and a half from home. They weren’t prepared for how much blood was taken and felt “exhausted” afterwards.
Mmm.
Who is kind of known to have venous issues as well. So I think again, just having that understanding of a family, that actually you’re likely to run into problems here. And it meant that we had - end up having to hold him down for about forty to fifty minutes, to get this blood. Because it was so important that we got it.
Mmm.
But you know, we just thought that with a little bit of forward planning that might have been avoided.
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.
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