So what is your general attitude to the idea of taking part in medical research?

Well absolutely positive. It’s the only way forward isn’t it. And if we all sit back and say, Well it’s nothing to do with, it’s something to do with somebody else and then you hear of so many tragedies don’t you. And so having worked in education for 40 years I came across many children who had suffered from leukaemia and extended families had lost loved ones through, you know, aggressive cancers and the colleagues who have sadly passed away. So being in a profession where you, you meet many, many people you know that it’s out there and it does hit home and it impacts with great ferocity really in a, in a family. So we’ve got to fight it and we are. And so there’s no doubt and please god within a few maybe decade, two decades, three decades it could be a thing of the past couldn’t it. And we might be able to identify it at source, you know at the earliest part of life that you have a gene that could develop into, you know, cancerous tissue later on in life. Let’s deal with it now then. Although I’m not a medic and I know I talk in very naïve terms but I think that’s what we would all want, want to sign up to.

Exactly that’s your attitude about why this is important. 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.

I decided when I spoke to the surgeon obviously they ask you if you’re interested in taking trials which I was because I feel that it’s really good to do research. It’s really going to help my children, my grandchildren and everybody. And I think it’s a brilliant thing to do I really do and I’m so glad I did it. Without a doubt I’m really glad.

What do you see as the potential benefits of taking part I mean for you your family or society in general?

I think for instance for everything. It’s the research as how we move forward with cancer. How we treat it. How, what treatment options are available. Again perhaps not, you know, there’s other ways of treating it than sort of invasive surgery maybe looking at the best ways to. I see it as protecting young people like my daughters and other young people. You know they could go through all sorts of different cancers, breast cancer is it running in the families. Is it genetic and everything. So as far as I, it’s looking at the future of how we treat cancer.

I think it’s really important to take part in medical research. I’m having treatment on the back of other people who’ve taken medical research in the past. And when I looked up, people who had breast cancer, you know, sort of died a lot more in the 1970s. Since the 1970s, we’ve had the 80s and 90s, lots of people have done lots of research. And now it, the, the survival rate, the cure rate is so much higher. Well, thanks to them I’m getting the better treatments. I have three daughters and I don’t know whether they will end up with breast cancer or any other breast, or any other cancer. So what I can do and the really important thing I can do is give a little bit of myself so that it can help create better treatments in the future. Otherwise, progress actually stops.

Oh, absolutely I made the right decision. Because there is so much we don’t know, and so much people are finding out sort of in the last few years about genes that cause breast cancer, and what ages they cause them. And then we’re able to screen. For example, I found out I’ve got BRCA1. So I actually have, unbeknownst to me, I have a genetic problem that caused my breast cancer. Now, I have no history, no family history of breast cancer. Cos largely breast cancer occurs in women. And my family, funnily enough, is largely boys. So it didn’t show up. Now, had I been able to have a genetic test at 30, I could have electively had a mastectomy and the-, like Angelina Jolie, and therefore had a much better chance of being alive to see my grandchildren. Now, because we didn’t know, I didn’t know, I have less chance. My daughter’s been able to go and be screened for BRCA1. Fortunately she’s negative. But the ability to be able to be screened gave her power to make decisions, gave her power to make decisions over say her career, when she wanted her children. It gave her choices to have the freedom to now feel actually, because it’s negative, she can actually stop worrying about it. Whereas I think that would have worried her for a long period of time, thinking, Oh, am I next? Is it going to be me? What do I do? And now actually she’s been given a negative result and therefore, you know, she can feel that she can go forward and not worry about that quite so much.

And how old is she, is your daughter?

She’s 21.

Okay. And was it offered to her or she asked?

The genetic screening was, we asked if she would like it. Because I was aware that if I was a BRCA1, she had a 50:50 chance. And then we went to the genetics department and it was on offer. So she had to go away and think about it and she decided that she wanted to know.

Yeah. Well for a start there are probably because of the whole genetic area we’re relatively knowledgeable about it

Yeah.

Because I’d say from, you know, from being, you know a bit, I’d been diagnosed with the family conditions of PCD and RP we’ve known about for 15 years so, you know. So at the point at which you get diagnosed with something then inevitably everyone does a ton of research. So you’re speaking to the medical profession and you’re, and you’re Googling it and coming up with all sorts of horrible answers which you have to ignore before [chuckle]. Doctors hate you Googling stuff but you know, and then you go off in all sorts of different journeys and find stuff out. Because both conditions that as I said, the likely treatments will be gene therapy based therefore you end up looking to see what’s going on in the, in the world of gene medical research. The other thing you also do is with. So I’m a member of the body called, [Body name] which is the support group for that. So with newsletters, website, emails, Facebook site, which is amazing what people share on that, you know, in a good way. You’re constantly finding out what’s going on in the latest bit of medical research specifically for your condition, you know so.

Julie: 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, 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 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.

Well anything – anything would be helpful. To help other people. I have a friend whose daughter died from cystic fibrosis. At the age of 30.

Mmm.

If anything I can do to help sort diseases like that out, which are hereditary, I would be only too pleased to do it. Having personal experience of that.

Mmm.

Which – I went through it with my friend and her husband. And we helped them as much as we could, but you saw how they were suffering with their daughter gradually getting weaker and weaker. And spending more and more time in hospital. She had a heart lung transplant in the end, and anything we could do to help them. We gave them supper every night when they came back from the hospital. But, anything you can do to help people suffering like that.

Mmm.

In whichever direction where health is concerned, I’m only too delighted to help.

Yeah. And, I mean, how do you feel about being invited to take part in the 100,000 Genomes Project?

Very pleased. Very pleased.

Mmm.

As I say, having had experience of terrible illnesses that get passed from one generation to another, I was only too delighted that I’d got the opportunity to do, to help.

What do you envisage as like the future with genetics and genomic research?

Yeah. Well I just hope that it will give rise to them finding out – although they are already working on it aren’t they, trying to make babies without these hereditary things. Which is, is absolutely amazing. I mean if they can start to rule out hereditary diseases like cystic fibrosis that would be absolutely marvellous. Seeing your good friends suffer by losing a beloved daughter at 30, knowing all her life that she was going to die. I mean that is terrible. And anything that people can do to stop that happening.

That – I think the aim of the project is bigger than the bit that I’m interested in. Because it’s looking at genes which give rise to you know, disease like cancer and so on. But I think there are aspects of it about genes that give rise to things like Down’s syndrome. Which I think is problematic. Particularly now, in relation to this new test, of – you know – this new very easy test that you can have, and all that sort of thing. So yeah, I think it’s described as a medical advancement, and as far as I can see, in terms of cancer it’s a fantastic medical advancement. But I think there’s an ethical underpinning about it that I’m not altogether comfortable with. Mmm.

I think it’s very difficult, isn’t it. Because there are – There are potentially fantastic medical advances, which could eradicate things which are absolutely horrendous on any planet that you could possibly name, like your 25 year old son dying of cancer. And that would be brilliant, if cancer was cured, that would be brilliant. But I absolutely think there’s a massive danger of this sort of homogeneity of the population, where anything that’s outlying from the sort mythical norm, or whatever, is deemed as undesirable, and can be eradicated. And this is happening with this Down’s syndrome test, which I think is hugely disgracefully problematic. So I think there’s a big ethical debate that hasn’t properly been fully realised, because people mix up disability or difference with disease. And I think they’re not the same thing at all. Absolutely not. So I think it needs – I don’t know, I just wish that my contribution had only been about cancer. That was the only conflict I had.

Can you tell me a little bit more about that? You’re talking about selecting? So, sex selection there?

Sex selection, yes.

Can you tell me a bit about your views on that? Or, what do you mean?

Well, I’m very old-fashioned. And I feel that we’re given this wonderful way of having children. There’s no mould. But the majority of the time, there is a perfect child given to the parents [struggling against tears]. And if genetics start to mix with the amount of boys, the amount of girls – because somebody’s got two boys and they want a girl desperately – I don’t agree with that. I don’t agree with that. Because I feel we’re given what we should have. And I feel this also about my illness [struggling against tears]. Because I am a very, very strong person. And I believe that these things are only given to people that can cope with them. Yes, a lot of us need help along the way. But the bottom line is, it’s you yourself. But as far as genetically modifying babies, or anything like that, no. I think genetics in that respect should be left alone, and leave it to nature. But as far as genetical work towards illnesses, I’m one hundred percent behind you. Yes.