Julie and Mark
Mark and Julie’s daughter, Jenny, has Dilated Cardiomyopathy. Mark, Julie and Jenny were asked to participate in the 100,000 Genomes Project as a family. They hope that the project will give them more knowledge about their daughter’s condition, and help others in the future.
Julie and Mark are married. They have four daughters between the ages of 15 and 25, and are white British.
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Mark and Julie’s daughter Jenny was diagnosed with Dilated Cardiomyopathy when she was 6 weeks old. Her parents and siblings do not have the condition. The family were asked to take part in the 100,000 Genomes Project by Jenny’s geneticist. The geneticist also knew them through their charity work with the cardiomyopathy support group. She has been important in supporting them through the project.
After receiving some information about the project, Mark and Julie met with the genetic councillor. They read through all the legal documents together and had the chance to ask questions, which Julie and Mark found really helpful. Although Mark is used to reading contracts, he suggested that the documents should be written in “simple” and “straightforward” language to help others. After going through the consent forms, Julie, Mark and Jenny gave blood samples. Julie was surprised how much blood was taken. Julie and Mark were also asked if they wanted to be screened for other common conditions. They discussed this as a family before making this decision, but all agreed they would like to have this option. Julie thought that knowing the risks the family faced would help them be “proactive” if anything did arise.
Mark and Julie hope the project will tell them where Jenny’s condition came from, and whether she may pass it on to her future children. Julie feels the project is a way they can do something positive. Mark and Julie also hope that the project will help others in the future. This might be through contributing to developments in medicine, or finding diagnoses for others. Mark hopes that one day genetic engineering could provide a cure for Cardiomyopathy. Identifying genes that cause the condition is the “initial step” in making this happen. However, Mark also worries that genetic screening could be used “in a negative way”, leading to some embryos with genetic mutations being discarded.
Mark feels their “biggest reservation” about joining the project was over how their data might be used, particularly by insurance companies. They were reassured that this wouldn’t be a problem as there is an agreement which means they don’t have to share their results. However, Mark still has some concerns that in the future the rules might change and the family might have to disclose their results to the insurance companies. Mark and Julie were unsure if their data would be sold in the future. Julie felt she would not have such a problem with her data being sold if the money went to further research and developing treatments. Mark thought that it would be “morally better” if the data was free to use, whether by researchers, educational institutes or pharmaceutical companies. He felt that this would ensure the data had the most impact. For both Mark and Julie, the good they hope could come from the project “far outweighs the negative thoughts”.
The family have not had any results from the project. They received a letter saying that their results were delayed. Julie felt “disappointed” at this news, but she understood that reading the results takes a lot of time. In spite of this, Mark and Julie have had a positive experience of the project, and feel it has given them the chance to “leave a bit of a legacy…that might be useful to somebody at some point”.
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.
Mark and Julie’s daughter has Dilated Cardiomyopathy and they reflect on how the project may allow for developments in medicine and the ability to detect the condition early.
Mark and Julie’s daughter has Dilated Cardiomyopathy and they reflect on how the project may allow for developments in medicine and the ability to detect the condition early.
Julie: Yeah it could be, anybody can look at the information can’t they. I mean they can’t take it out of the rooms sort of thing but they can go in and use, use what the findings are. And it could be, you know, it could be any number of developments in medicine or, you know, the companies that are, drugs companies or anything like that in the future just to be a part of that and have something, you know, just to leave a bit of a legacy really that might be useful to somebody at some point, you know, is...
Mark: I mean more specifically with [Daughter]’s condition if they discover a gene mutation in either of us or both of us for that matter that can be isolated to the dilated cardiomyopathy condition that [Daughter] has as opposed to a hydrotropic as opposed to something else that is distinctive enough in the sequencing then that would clearly provide for a marker for testing and advance detection of the condition in other people of course.
Ok.
Mark: So you know that’s how it may manifest itself in one way. And if they’ve got, you know, statistically significant occurrences of that with, through testing of other people with a similar condition then you know that, that would obviously give a great, great advantage in the future hopefully for others. Or indeed you can think of it in another, in a negative way that they’ll screen embryos to you know, not pregnate them kind of thing so that you get it out of the gene pool.
Mark and Julie hope that genomic medicine might improve the early detection of cardiomyopathy in the future, especially for people who have the same type of cardiomyopathy as their daughter.
Mark and Julie hope that genomic medicine might improve the early detection of cardiomyopathy in the future, especially for people who have the same type of cardiomyopathy as their daughter.
Mark: I mean more specifically with [Daughter]’s condition if they discover a gene mutation in either of us or both of us for that matter that can be isolated to the dilated cardiomyopathy condition that [Daughter] has as opposed to a hydrotropic as opposed to something else that is distinctive enough in the sequencing then that would clearly provide for a marker for testing and advance detection of the condition in other people of course.
Ok.
Mark: So you know that’s how it may manifest itself in one way. And if they’ve got, you know, statistically significant occurrences of that with, through testing of other people with a similar condition then you know that would obviously give a great advantage in the future hopefully for others.
And the other outcome is not just detection but cure because if in the future we become advanced enough to do genetic engineering and splicing and replacing defective genes and all this sort of jazz which, you know, I’ve heard bits and pieces of then you know clearly the initial steps are identifying the defective genes or the causation you know of it. So that, that’s obviously hopefully another outcome that might improve other people’s lives.
Mark and Julie found it helpful to have a face to face discussion with the genetics counsellor who went through the consent forms very carefully with them.
Mark and Julie found it helpful to have a face to face discussion with the genetics counsellor who went through the consent forms very carefully with them.
Ok.
Julie: While we were sat there. And obviously then we had to sign our consent and, and bloods were taken at that point but
Mark: Yeah it was a very contractual looking and sounding document.
Julie: Yeah
Mark: Which they apologised for countless times but, you know, it’s a. You’ve got to understand what you’re getting into.
Ok so you discussed with the genetic counsellor and you decided to take part and I gather that you went back and they told you. They went through the form like with a fine toothcomb.
Julie: Yeah read everything out and made sure we understood and made sure we had a chance to ask questions and obviously then, then we signed and then they took the blood so all on that day.
Ok So that, the way that they went through it all that was sort of a very helpful process?
Julie: Yes it was, yeah, yeah.
Do you think if you hadn’t had that you would feel as comfortable with it or?
Julie: I don’t think I would have signed it without having face-to-face sort of time with, with them. I think we needed that really.
Mark: Yeah I mean, you know, I’m used to reading contracts and stuff like that but the language was very contractual but it was understood, could understand it. But I think the benefit of having a face-to-face is, is always useful because you always think of things that aren’t on the page to ask.
Julie: Yeah
Mark and Julie feel happy that their data will be sufficiently de-identified before it is shared with other researchers.
Mark and Julie feel happy that their data will be sufficiently de-identified before it is shared with other researchers.
Mark: Yeah I mean the first thing they said to us was that I know our information wouldn’t be directly identifiable to us.
Julie: No I mean it has a number but it remains
Mark: So somebody somewhere has the secret list with names next to numbers but that, that is held securely and not shared with any research establishment or third party. And indeed the data is then, you know within a pool of data of course and but we are not separately identifiable to you know, anybody who is using the data. That’s the way it’s been explained to us.
Mark and Julie were concerned that they may be contacted by commercial companies selling products but were reassured by the research team that this would not happen.
Mark and Julie were concerned that they may be contacted by commercial companies selling products but were reassured by the research team that this would not happen.
Mark: Well I mean we all leave a, leave a footprint in everything that we do these days in life whether you’re searching on the internet, buying something online and what have you. And you know, there’s unfortunately there’s companies out there that, that do profiling and all the rest of it. Apart from the annoyance factor you’ve then got insurance companies who, if they could get hold of that data relating to you would then go, “Right [Name] I know, I know that you’re diabetic. I’m going to whack it, a premium of 25% more because of that knowledge which isn’t the…
Julie: Similarly you wouldn’t like it to be, you know, so that people selling things will say, “Ok we know he has got that condition so they are going to, you know, bombard you with phone calls and letters and emails trying to sell you products.” And do you know what I mean? It’s sort of, you know, that you don’t want that to become the case do you. So
Mark: No you don’t. You don’t want it to cost you more [laugh].
Ok. Were these important issues to you that they assured security?
Julie: Yeah I think the knowledge that they, they did, you know make sure that we knew that that wasn’t going to be the case that was important, yeah.
Ok. Do you have belief that they will be secure?
Julie: Yeah I, yeah I trust, yeah
Mark: Well I think we can only trust that. I mean I’ve not inspected their systems and their processes and procedures so all there is left is trust actually. And that’s the balance that you have when you enter, you know do a project of this nature is that there is a line where you can only get so far and then it is, it does become a trust barrier that you go through. But I think
Julie: I think the desire to want to do good with it for something good to come out of it is going to be far outweighs the negative thoughts which I have had so far.
Mark: Yeah exactly.
Mark and Julie hope that the results from the project are well publicised so people are aware of the positive outcomes and are encouraged to participate in other projects in future.
Mark and Julie hope that the results from the project are well publicised so people are aware of the positive outcomes and are encouraged to participate in other projects in future.
Sure.
Julie: So yeah just to say how proud we are of her really and obviously we just want to back her up and.
Mark: It would be good to see some output when they do get the results.
Ok.
Mark: Not for it just to be held by the, you know, research establishments, pharmaceutical companies and educational areas because, you know, they’ve advertised it, I think on the TV. It would be good to feedback to the public some of the things, some of the positive things hopefully that have come out of the project because if people are asked to enter into these types of projects in the future unless they know there’s a positive outcome why would they bother unless they’ve got a personal interest.
Ok
Mark: There’s a lot of things are going on in the population for people who don’t have day-to-day conditions like this who won’t feel any other, you know, enticement to, to perhaps get involved which may be again preclude people getting the info.
Mark and Julie found out they would need to wait longer for their results. They were disappointed about the wait but understood that analysing the results takes time.
Mark and Julie found out they would need to wait longer for their results. They were disappointed about the wait but understood that analysing the results takes time.
Right ok.
Julie: You know it’s just the waiting now really.
Ok so when you got that letter how did you feel about it?
Julie: We were a little bit sort of disappointed. We thought maybe we’d have got, you know. But we understand I mean the testing is very quick but it’s the reading of the results that takes the time. And you know you kind of have to understand they’ve got lots to look at haven’t they?
Sure. Did they, what did the letter say? I’ve not actually seen one of these letters.
Julie: I mean I’ve probably got it somewhere in the file to show you.
Mark: Yeah
Julie: I think it was just basically, you know, we’re very sorry but there will be this sort of delay, possibly another 9 months so.
Mark: It’s kind of a just to keep you updated with events XXX.
Julie: Yeah. I mean we were told to expect maybe phone calls sort of for extra information. We’ve not had anything like that. So
Ok.
Mark: [mutter]
Julie: They’ve not needed to ask us anything else yet. So