Part 1 – An interview with Richard Stephens, patient advocate and Chair of the Stakeholder Forum for BBMRI-ERIC, the European research infrastructure for biobanking.

Elaine Quinn:

Approaches to the design, delivery and dissemination of clinical research and clinical trials have evolved significantly in the last few decades. Patients, family members, patient advocates and clinical research participants are more involved in the research process than ever before but there is still room for improvement. Having participants take a more active role in deciding how clinical research is regulated, funded and prioritised will ensure that health solutions are meeting the needs of the patients, first and foremost. Today we have a special guest who is committed to advancing the research process with the patient and participant at its core.

Richard Stephens is a survivor of two cancers, a heart emergency and has dealt with several other health issues. He has participated in over a dozen clinical trials and research studies and has served as a patient advocate on many committees and panels in the UK, Europe, USA and Canada over the past two decades. He currently serves on Genomics England’s committee for Data Access Review and for Ethics Advice. He is Chair of the Stakeholder Forum at BBMRI-ERIC, which is the European research infrastructure for biobanking. And he is also the Co-Editor of the Journal of Research Involvement and Engagement in Health and Social Care Research, the only academic journal specialising in that theme. His professional career has included work in education, local government and journalism.

Richard, I’m delighted to welcome you to this episode of In Sequence.

Richard Stephens:

Thank you. It’s lovely to be here. I’d just like to say hello to all the patients and patient advocates who are listening and to warn them that that introduction makes me sound a lot more interesting than I really am.

Elaine Quinn:

I don’t believe it for a second. So, Richard, you have been working as a patient advocate now for many years and have participated in numerous research studies. What was it that first motivated you to work in patient advocacy and to promote clinical research?

Richard Stephens:

Well, the first motivation is the obvious one – I got sick! Um, I was 38 years old and they told me I’d got a cancer. And the second motivation was I remembered the words of my mum, who was a nurse who actually always told my brother and I, “if ever you get the chance to be involved, to participate in medical research, do it, because you’re helping further our knowledge and understanding, but also you get looked after better. You get more attention”. So, when I was offered a clinical trial, I said, yes, and it was a mixture of motives. I fancied getting more attention. Um, and I thought, whatever happens to me, somebody somewhere down the line is going to benefit from whatever it is they’re going to find out from this study. Uh, luckily, I’m still here. Things did pan out okay. I had to go on more than one clinical trial to get there, but, got there. And the more I took part in research and the more I was asked questions about how I was feeling, I found out later they’re called quality of life surveys, but actually I thought that the things I was saying would change my immediate care and it didn’t, and that baffled me. So, I then went back to the information they’d given me about the trial. And then I realised talking to my oncologist after the trial was over that actually I hadn’t understood at all, what it was they were doing. I’d just said yes, because it struck me as a good idea. She was quite horrified to find out that I hadn’t understood because she thought he’s an intelligent man, he must have done, but no, I hadn’t.

So, I got interested, like many of us do in patient information. I’d written a diary while I was ill, again, like many people do. My nurses got a copy from one of my fellow patients. They were part horrified by the things I was writing and part highly amused. It got sent to a charity. The charity invited me to sit on a committee. I was working in local government at the time so sitting on committees was what I was used to doing. And from that, I just got invited to go and sit on more committees and it coincided with the setting up in the United Kingdom of the National Cancer Research Institute (NCRI), which is a partnership of all the major funders of cancer research. So, it’s all the big charities. It’s what is now the four government health departments, and in those days, it was actually the Association of the British Pharmaceutical Industries – they were involved as well. And there was a vacancy for a patient representative who could survive. That was the point you had to be able to survive on a high-level committee. And I got asked to go and sit on one. So again, I just did, and I’ve just got sucked in. And I keep saying yes. And after 10 years I gave up my proper job in order to be a full-time patient advocate. And it’s partly because after 10 years, the trial that I’d been on originally had become the standard treatment across the world. The drugs were readily available, and I thought, well, if I’ve helped do that, here is a whole new career opportunity where I can actually do something useful and something I’d never thought of doing. So, I just got sucked in.

Elaine Quinn:

Incredible that you turned to patient advocacy as a whole new full-time career. And I can imagine that you’ve seen significant changes now throughout your time and your experiences in participating in these various research studies. Can you talk a little bit about the kinds of changes that you’ve seen and the advances that have taken place during this time, and how maybe clinical trials have improved?

Richard Stephens:

Well, some of the changes I’ve seen to clinical trials especially, have been the structural changes, the methodology changes. So, when I went on my first clinical trial, which was in 1998/99, it was like most clinical trials. It was a simply straightforward of a new drug against existing drug, new treatment against existing treatment. We now have these multi-arm multi-stage designs where new drugs are fitted into a particular patient group who are identified by their genomic data. So, the trials are often more complex. There are far more smaller trials that seem to be going on as we test out molecules in particular patient groups. The other side of things is that so many studies are now taking much more notice of what the patient goes through; the experience of the disease; the experience of the treatment for the disease; and the side effects and the late effects. It’s particularly important in something like cancer because in 20 years that I’ve been involved with it, the survival profile has changed enormously, you know, in Western Europe now and USA, Canada, etc., 50% of patients diagnosed with cancer are still alive, not one year, not five years, but 10 years afterwards. That was not the case 20 years ago. So, actually, the long-term health conditions of patients is much more of a consideration, and clinical trials are now being designed with much more comprehensive quality of life measures and with patient-reported experience and patient-reported outcomes. And collecting the real-world data that’s available in the health services, you know, that this person was treated with left-sided radiotherapy 10 years ago – they’re probably now at risk of a heart problem, let’s get them in for a heart check. So, all of that has changed and clinical trials, I think, are trying to make much more from each participant on them. You can contribute much more to science, beyond your own particular care. It’s providing data, it’s providing tissue samples as well as testing whatever the particular research question is.

The other, the other thing that I think has changed enormously is the thing about – you get more care – you get more attention if you’re on a clinical trial. We now know from the cancer patient experience surveys in the United Kingdom that actually patients themselves say that’s true, but they don’t say it explicitly. The satisfaction levels of patients in the cancer patient experience survey, if people have taken part in any form of research, they report a higher level of satisfaction with the overall process, with their overall care. So, there is some sort of link and we don’t quite know what it is, but participants in research feel, they believe they’re getting better care.

Elaine Quinn:

That is really interesting. And so, do you think these changes that you’ve seen since you participated in your first clinical trial have translated into increased patient participation and involvement in clinical research studies? And do you think there’s a case for participants being involved in a research study from the very, very beginning stages?

Richard Stephens:

I would certainly advocate a case for that. So, for example, let’s just go back to the national cancer research Institute, the NCRI in the UK and what we know from cancer stats and cancer trials in the UK. So, in the year 2000, about 4% of cancer patients participated in clinical trials. By 2019, it was 24%. In some things like blood cancer trials, it was well over 40%. Uh, for children, it says somewhere over 90%. So, there is a massive take-up of clinical trials. Now one of the measures of a clinical trial is actually can you recruit to time and target? Long before you get the results. Can you actually get the right number of patients in the time you’ve got to do it because there’s a limit to any funding measure.

So, one of the things the NCRI helped do under the national cancer clinical research network, which is now part of the NIHR, all these acronyms, but was set up networks across the country of clinicians and sites, hospitals that were keen on recruiting people to particular types of clinical trials. So, you’ve set up networks. We also put patient representatives on every committee; you had national strategic committees and bodies called research groups to actually look at national portfolios of studies and spot where the gaps were and try to come up with studies to fill them. And the patients were involved in that. We had people working directly with small groups of researchers designing the individual studies. All of this was a gradual process. When we first started, we had problems filling the gaps. That’s probably one of the reasons why I ended up doing so many things, as did many of my colleagues. You kept seeing the same people at different meetings. We now have queues of people waiting to apply for our vacancies. So, that in itself has changed.

But all of this links together. So, we have more clinical trials in the UK now, not just in cancer, but in all diseases. We have over 600,000 patients who are participating in clinical research in the United Kingdom. We have patients involved at every level or almost all of the big funders now have patients sitting on committees and groups that make funding decisions, almost all research, non-commercial research in the UK, has patient involvement in helping to design their research or deliver it and sometimes to disseminate it. Because again, that comes back to the reason we want to do this is so that research benefits people. So, whatever you find out should be translated into clinical practice as quickly as possible, or, sometimes, your research study has recruited to time and target, it’s a brilliantly designed study, but actually it doesn’t come up with the result you wanted. Your new treatment is not better than the existing treatment. Fine. You found the answer to that question. Shut down that line of inquiry. Start up another one. And patients have a role to play in all of that. And one of the fabulous things about what I do and what I’m allowed to do is go over to the USA, to Canada, to see what’s going on there and to go into Europe and see what’s going on there and the European union, for all the challenges Britain’s membership of the European Union has raised, health research is I think one of the success stories. Just getting whole nations to work together, especially in rare diseases and in my case in rare cancers. You need the numbers of people on the studies, whether it’s academic studies or commercial studies. And we’re now just beginning, just beginning to get patient involvement truly embedded in some commercial activities as well and quite by coincidence, after we finish this particular recording later on, on the same day, I’m going to be talking to a multinational drug company who want to set up a patient oncology reference panel in the United Kingdom.

Elaine Quinn:

And that’s fantastic. It’s great to see that the, the pharmaceutical industry are acknowledging the importance of having patients involved.

Richard Stephens:

And I have to say by commercial interests, it’s not just the pharmaceutical industry, because we tend to think of them as big pharma. It is small biotechs are talking to patients where they can and of course, they’re very interested in the issue of, of how they get patient samples, tissue samples of the diseases they want to study. Technology; people manufacturing new machines are really interested in talking to patients because it’s pointless manufacturing a fabulous new machine that will do all over body scans if the patient actually doesn’t feel comfortable strapped on to the couch you’ve designed for them and they’re always going to be twitching and tossing and turning. Places like the University of Leeds – I went to a fascinating conference there a few years ago where the medical, the students in the medical faculty were working with the students in the engineering faculty to try to look at improving the design of the average hospital bed. There’s really interesting stuff going on. And as I say, I’ve just been lucky enough to get involved in some of it. And of course, the reason I’m doing it is because I am a product of the benefits of medical research. I am alive because medical research provided treatments for me that were not available 20 years earlier.

Elaine Quinn:

Yeah, and it’s, it’s fantastic that you can offer those insights so that people can benefit from it. And it’s really encouraging to see that there has been such an increase in the uptake of clinical trials by patients and more involvement by participants in those research processes. How do you see us improving on those numbers now as we go forward in the future? Obviously, collaboration, as you mentioned, is a huge factor and people across all disciplines coming together and really buying into the idea of patient and participant involvement in research but where do you think the gaps are that still need to be filled?

Richard Stephens:

Well, I think there are two gaps, there are two significant gaps. One is, it’s probably around the issue of trust and who’s making the offer of the study. And that is perhaps less of a problem in the United Kingdom than it is in countries where you do have private insurance-funded health care and different clinicians may work with some institutions, but 50% of their practice is private. And it depends on who’s being offered the studies. And you go to countries where actually the only way you can access modern medicine is to get involved in research and volunteer, and that doesn’t necessarily give research a good name, more widely. There is some suspicion of it, and I think the way to overcome it, certainly in, in countries like Ireland, like the United Kingdom, where you have big healthcare systems is simply that research becomes part of daily life. My GP surgery, you walk in and there is a huge poster saying this GP surgery participates in research. And then there’s a few lines about what it means, including which data they share about you and the things they don’t share about you. I’ve been to a hospital actually where they had a Blackboard out the front of the hospital and it simply said this week, there’s 82 patients from this hospital have participated in clinical trials and it was a Blackboard. They just, they just wrote in a different piece of chalk every week, but it’s right by the entrance. Everyone that walks past sees it. Research for me, all the potential, the opportunity to contribute to research, is something that should be part of every patient’s care.

And I think the other challenge that we face is the perception of what the research actually is and does. So, sometimes there is a perception that research involves clinical trials in a disease like cancer because people are faced with death. So, we clutch at straws. We take anything that’s offered to us in order to avoid that outcome. And that is true to a very, very limited extent but there’s also research studies in diabetes, in arthritis, in chronic conditions. The questions are often very, very different. They’re often around – we know that particular drugs will start to lose their effects after 20, 30 years, so what else can we offer? And people by then have been coping for 20, 30 years. How old are they? What else has gone wrong with their bodies? And how does one drug interact with another? And how do we deal with people with multiple morbidities as they’re now known?

So, I think there are, there are those two issues. There’s, there’s one that people, people need to trust whoever is offering them the research opportunity. They need to trust their motives, they need to find out what’s going to happen with their data, their information, as well as what’s going to happen to them. And then the other side of it is this idea that research is something different and something special. And we need to break that down and actually say, no, this is part of day-to-day healthcare.

Elaine Quinn:

So, it’s really about normalizing it for everybody, demystifying it so that people aren’t afraid of it and that it just becomes something that everybody is doing.

Richard Stephens:

Well, it probably is and unfortunately, my focus of course, is always on people who have problems, who have diseases and illness because that’s my background. The reality of much of research, as all of COVID vaccines have shown, is actually about preventing illness. And we can do that through lifestyle advice, but let’s be honest, I look in the mirror, I’m not exactly following healthy lifestyle advice despite everything that’s happened to me and most of us don’t. So, there is then – do we have risks of things? Are things running in our families? And there’s actually research around that, which I think is beginning to interest more and more people. Or precision medicine, stratified medicine, but also risk prevention. Am I in a particular group of people who are at particular risk of something? If I am over 80, am I more risk of catching COVID? Well, no. Am I more at risk of something really horrible happening if I do catch it? Well, yes.

Elaine Quinn:

And even just encouraging more conversation within our families as well to understand more about our own medical history and how that can make us a little bit more aware of what our own future health might look like.

Richard Stephens:

That’s very true and that the beauty of the research that’s currently going on in all forms of genetic material is if you can sequence someone’s whole genome, you can explore all sorts of parts of the genome that we’re not currently looking at. So, if someone is diagnosed with breast cancer, we think we know where the breast cancer genes are, and you can track them through a family. And we know from cases like Angelina Jolie, where people feel if they are at high risk of developing breast cancer, they take action to prevent it. And this applies to other diseases as well, where we know what we’re looking for. But actually, there are so many genomes in genetics and so many conditions that people could develop, there is a whole field out there full of little buttercups. And actually, until we start looking really closely, we don’t know where the buttercups are. That’s probably not a brilliant analogy, but that’ll do.

Elaine Quinn:

I think it’s a lovely analogy. It’s perfect. And it’s really encouraging and interesting to hear you saying that when you walk into your GP, to a primary care setting that there are notices saying they’re participating in research. And I think that it’s a great way to normalise it for the general public.

Richard Stephens:

But then, there is a challenge there because actually, it’s all very well for a GP surgery to say they’re participating in research, same as my local hospital you know, that’s absolutely brilliant. But then we do need to devise healthcare systems where doctors, nurses, anybody else working in the healthcare service has the time allowed to talk to patients about the research opportunities and certainly at present that is a challenge to any healthcare service because they’re all working on other things.

Elaine Quinn:

Yeah, I can see how that’s a challenge alright and it makes sense to try to find that time. Now, you sit on two Genomics England committees, so, I just wanted to maybe hear a little bit about your work on those committees and to what extent Genomics England involve patients or participants in the work that they’re doing?

Richard Stephens:

That’s  a complicated question because when Genomics England first started, it was set up to deliver the 100,000 genome projects, which has now gone up to half a million genome projects because the  hundred thousand has been done. Done and dusted – move on. When it first started, the intention was always to have patient and public involvement. It was also felt that they should have participant involvement and that was from the word go. But of course, from the word go, there were no participants involved – they were still busy participating, actually having their genome sequenced and donating genomes and sample material. So, it’s been a really gradual process over the several years that the project’s been up and running. What there is now is a participant panel, which is a mix of people who have rare diseases, rare familial conditions and cancer patients, because those are the two tracks that the hundred thousand genome project first started to look at that. There are other things it’s looking at now. And the participant panel has a place. So, members from the participant panel sit on the Ethics Advisory Body, but so do independent patients, that’s my role. So I do not have a vested interest in the project in the sense that I am not a participant, but the participants, the people whose genomes have been sequenced and who want to benefit humanity, they are in the room as well.

I also sit on the Access Review Committee and this to me is the really interesting one because the Access Review Committee does what it says on the tin – Anybody who wants to use the hundred thousand genomes, these fully sequence genomes for a piece of research, applies to Genomics England to do it. There is a Scientific Committee that looks at the science and the Access Review Committee actually considers the other issues. So, do we trust these researchers? What’s their background? Who’s leading the project? Have they involved patients, or do they intend to involve patients or the public in what it is they’re doing, is the question? Even 5, 10, 20 years down the line, is it going to address a need that patients or people at risk actually have, is this a genuine need or is it, is it some sort of fishing expedition? So, all of those discussions take place and, once again, you have participants in the room, you have independent scientists and clinical researchers in the room and you have independent patient, me. And we’re all talking about these and deciding whether or not we grant access. But it’s also the Access Review Committee because after 12 months, everyone who’s asked for access to do the research, they are reviewed. They have to appear before the committee and in a nice friendly style, they have to tell us how they’ve got on with that research. What they’ve found out, whether or not it’s useful. And on the one hand, there are the tangible measures like, do you have any published papers coming out of this? Because that’s what always interests academics. And on the other hand, it’s well, how many patients have been helped? How has this changed their treatment? Or if it hasn’t, how long will it be in your estimation before that starts to happen? And that to me is two things, two separate things that Genomics England has combined brilliantly. One, is having patients and participants decide on who gets the access to our data, our information, our samples, and what they’re using it for. That’s the first priority.

And the second one, is we also get to find out what they’re up to, what they’ve done and how that has helped people. And it’s not use this after 12 months or lose it, but it is really tell us what you’re up to – actually yeah, that’s interesting, carry on, or, well, have you thought about looking at that instead? Or are you really going to get this done in three years? Come on, let’s be honest. And it’s having conversations.

The other thing that Genomics England has done is introduced an earlier stage for that. So they have a thing called the Discovery Forum, which is where industry or academics if they wish, but it’s mostly industry, can come along and talk to the participants about their ideas and actually the participant panel, members of the participant panel can help shape their ideas before they ask for access and before they come to the Access Review Committee. It’s an outstanding system and in terms of involving people and looking at their public facing materials, all the ethical consent forms, all the stuff that’s on their websites – they have involved patients, the public, even children in some cases and now they’re involving the participants at every step of the way. I know I’m part of it, but I’m part of it as a volunteer, I’m not an employee of the company and I would advise anyone interested in involving people in medical research, not just genomic research but to have a look at what Genomics England have done.

Elaine Quinn:

Yeah, that’s incredible. And really just brings it back again to that question of trust. And I mean, of course having a system like that, where the participants are really at the centre of it all and their involvement and ability to report back on how it’s all working is really going to help to improve that key factor that’s trust.

Richard Stephens:

Yes. And it also helps generate trust and interest and support because every single one of us. Patients, public, not just Genomics England, but every single one of us who is involved in medical research or health research, we all have our own little networks. It might only be our families, our friends, our work colleagues, but far more often, we are part of other patient groups or we’re part of, we go onto Facebook chat rooms, or we sit on local hospital committees or something, but every time we do something good in research or every time we hear a good piece of research that we’ve been involved with, we can and do, we champion that. We talk about that. So gradually, gradually this issue of research being normalized is spreading out there and I would hope it’s establishing the trust. I hope.

Elaine Quinn:

Absolutely, well look, I want to ask you about how all this great work is being impacted by the Corona Virus – obviously, it’s having a huge impact on health sectors across the globe – how has COVID-19 affected the research process and participant involvement in clinical research in the UK?

Richard Stephens:

I think it’s had a whole range of varied effects. The most obvious one is that nobody meets face-to-face anymore – everything is now online. That has had some benefits, unexpected benefits I think. People who are shy at meetings, face-to-face meetings, find it a lot easier to contribute online. You can also formulate your questions and comments more if it’s an online system that has a chat facility and you can type things in. I also think that it’s allowed us to have more conversations with underrepresented groups. You can also meet more often online than you can do in real life. It’s cheaper. There are all sorts of advantages. Nothing will ever stop, especially for patients. Nothing will ever stop us wanting to meet face-to-face. And sometimes it’s not even meeting face-to-face it’s actually just to give ourselves a big hug. Let’s be honest about it. That matters a lot, especially in things like cancer research. But also, I think it’s raised the profile of research, unquestionably. Some organisations like Genomics England have been able to say, well actually, we’ve got loads of samples here. Let’s collect a few more samples from people who’ve got COVID or who’ve been diagnosed with COVID and have a look at what’s going on, genetically. Do some people have a predisposition to viruses? So there’s all sorts of new lines of research.

Things like cancer research – a lot of the drug trials had to stop or at least pause, whereas many radiotherapy trials were able to carry on because radiotherapy doesn’t have the same effect on the body’s immune system, but patients then didn’t necessarily want to go to hospital for their treatment. So it’s been a huge mixed bag. In terms of patient involvement, I’m not sure that there has been a lot of patient involvement in the development of the vaccines, but at the same time, many of my colleagues and certainly I myself are twice as busy as normal. We’re getting many more requests, but often it’s actually around data, it’s about biobanking, it’s about samples. So, it’s actually possibly around researchers wanting to make new uses of things we’ve already got. So it’s a really mixed picture, but I think overall, although there will be delays to some clinical trials in all sorts of diseases, but especially anything that involves a drug, there will be delays to that. But on the whole, I think COVID is going to benefit research in the long run. More people are interested in it and more people actually are beginning to understand statistics, predictions, risk groups and things like that. So, I just think for people in patient involvement wanting to encourage wider awareness of research and wider understanding, that it is opening all sorts of doors for us and what we will need to do in 2021 and 2022 is take advantage of those opening doors.

Elaine Quinn:

Wonderful – I agree that as challenging as it is, there really are a lot of positive things that have come out of the Covid pandemic. So, it’s great that we’re seeing some good things happening as well where research is concerned. So, Richard, I want to move on now to talk about biobanking. So BBMRI-ERIC is the European research infrastructure for biobanking of which you are Chair of the Stakeholder’s Forum. And so I wonder if you can talk to us a little bit about what exactly biobanking is and how biobanks can lead to better outcomes for patients.

Richard Stephens:

So, a biobank. I get into trouble whenever I say this because the biobank researchers put their heads in their hands, stare at me with sorrowful expressions. I regard a biobank as a large fridge, full of interesting bits from human beings with a sign on the outside of the fridge, which actually tells you what’s in the fridge before you open the door. And it doesn’t have to be human beings. Biobanks are also increasingly being used to preserve materials from plants and from animals, particularly species who are at risk of extinction.

And a biobank essentially is a bank. You make a deposit, but the deposit is of a sample. So, if we take the human beings, cancer, my go-to disease, it would be a biopsy. So, you can, for example, give consent when you’re having a biopsy taken to see what that lump is, is it cancer or not? You can actually ask, is there a consent form? Any spare material? Put it in a biobank because scientists need human material. You can test all you like on mice and animal models, but sooner or later, you need a slice of human material under a microscope to see actually what is going on in a human being.

And it’s particularly important if you’re going to do that, that biobanks also store data. You want to know not who the person was, but you actually want to know what their medical condition was, what their medical history was, what drugs they have had. So biobanking now, anyone who consents to give samples to a biobank, which is a giant fridge available for researchers, anyone who consents to doing that needs to understand that a lot of their data will need to be attached to it for it to become useful.

The BBMRI-ERIC project across Europe is to try to standardize how we approach that. So, what form of consent are people giving? What is explained to them? What sort of data is recorded? How is it recorded? And most importantly, for we patients, who gets access to it? What is that access being used for and who gets to say yes or no? And Genomics England in the UK, which isn’t a biobank, but Genomics England has come up with this wonderful method of actually having participants – the people who have donated their genomes and their tissue, actually sit on the committee that says who gets access to it and what research they’re allowed to do. But the European project is to try and get that standardized across as many countries as possible. It’s not directly an EU project, it is governmental so the UK’s participation in it will not be affected by Brexit, we’re still a key part of it. And the UK itself has a national biobank as well as lots and lots of biobanks. And we actually have people like Newcastle. There’s a team of people who go out and do what’s called prospective biobanking. So, a biotech company will actually say we’ve got an interesting drug, which we think is going to work on a group of people with this particular condition but we need to find 20 samples to test it on, not test it on human beings, but actually test it on bits of human being in a laboratory. And they will go out and find 20 volunteers who have the medical condition, who are prepared to donate those samples. So, it’s a fabulous thing that the University is doing, or the hospital up in Newcastle, It’s a fabulous thing that the biotechs are doing, but most of all, it is a brilliant thing that the patients and the participants are doing. Just actually saying, yeah, take this lump, I don’t want it anymore. Take a little bit more blood. Have some x-rays from me, you know, go and use those, but actually use it to benefit other people. It’s amazing. If I had my way, every single research paper that researchers published would actually have a big block on it saying thank you to all the people who participated in this clinical trial. Thank you to all the people who donated samples and tissues that made the science possible.

Elaine Quinn:

It must be a huge challenge to collect all of that clinical data along with the tissue samples with all the consenting issues and multiple care providers involved – how do they manage those challenges?

Richard Stephens:

Well that’s one of the big debates. Do the biobanks collect that information or should there be a central repository for that information and what’s called a trusted research environment, which is managed by someone or something completely independent, but actually that’s where all researchers; academic; commercial can go to find it? Now, the discussions about doing that in the UK are currently underway. Trying to do that across umpteen nations in Europe is going to be a bit more of a challenge. But if we can get it in the UK, even then we’ve got four different nations and four different ways of doing things. Four different ideas about consent, all sorts of things will have to be sorted out. But I think, for me personally, that’s actually the way forward that there should be trusted research environments created, run by independent-minded organisations like a charity for example, not government, not commercial interests, but someone whose interests are purely in research, benefiting humanity.

Elaine Quinn:

Yeah, that’s a really, really interesting idea to be able to centralise the collection of that data and it would be great to see that realized in the nearer future. Well, we’re coming towards the end now, Richard. You’ve obviously had a tremendous career to date and you’re clearly very passionate about the work that you do. So, one final question – what would you say has been your best and worst experience throughout or your career?

Richard Stephens:

My worst experiences are almost always watching or listening to playbacks of interviews or presentations, because I always think there’s a ton of stuff I should have said and there’s a lot of things I should have said better.

The best experiences though, keep happening. There is no one best experience. The best experience always is the people I get to meet. Whether it’s scientists, clinicians, or above al, patients and families. Everybody has such an interesting story to tell. And maybe I’m just lucky, but everybody I meet is so positive about trying to get more research done, more questions answered, more knowledge obtained, and then, then, put it to good use to benefit other people. And everybody, honestly, everybody I’ve met that whether we come from different backgrounds, some people have single agendas, some people have broad ranges, it doesn’t matter. We’re all interested in that one thing, let’s find out more stuff and make it useful to more people. Oh. And if we can, let’s do it a hell of a lot more quickly.

Elaine Quinn:

Yeah- Absolutely well to quote something of yours I read recently, which I think summarizes everything you’ve talked about today perfectly; research participation is good for patients. Patient involvement is good for research and good research produces better treatments and care for all of us. So, Richard, thank you so much for sharing your experiences and insights with us today. It’s been a real pleasure talking to you.

Richard Stephens:

Thank you. I’m going for a cup of tea now.

Part 2 – A personal story by Linda Tormey, Director of Clinical Programs and Operations at Genuity Science

Elaine Quinn:

So many of us have been impacted by illness – we wanted to take some time at the end of each episode to share a personal story that helps exemplify the need for precision health. The personal story we share with you today comes from Linda Tormey, Director of Clinical Programs and Operations at Genuity Science. Linda talks about her loss of both parents at a young age and how those experiences led to a career in clinical research, where she could help find solutions for those difficult-to-treat diseases.

Linda Tormey:

Okay, so I guess I have two stories. I lost my parents at a young age. I was the oldest of three, I had two younger brothers. I lost my mom when I was 19 and I lost my dad when I was 21. My mother’s story and my father story, I suppose they are bit entwined because they were both passionate about research and passionate about progression in the world. So, my mom in 1983 was when I actually was originally a nurse. I suppose I’m always a nurse.

I started nurse training in February 1983, and I guess around the same time my mother was complaining of flu-like symptoms and she had a rash around her ankles, and we thought nothing of this. She’s got the flu; she was working away and loved her nursing – had gone back to nursing when I went into secondary school. And then I think it was probably around March that she developed abdominal pain, and she had what they call an acute abdomen and she was sent into hospital. And she had to have a bowel resection. And at this stage they didn’t know what had happened to her other than she had a large amount of gangrenous bowel at the time. And she stayed in there for a while you know until she recovered.

The surgeons looked after and then she was referred on to I think it was a rheumatologist to diagnose her. And it took a long time to diagnose mom because she was deteriorating, she was a fine woman and she was deteriorating all the time. So, when they did diagnosis her and I can’t recall what month they did diagnose her in, but it was clearly around May perhaps. She was diagnosed with a disease called Polyarteritis nodosa which is an autoimmune disease, and which is where the arteries are clogged up with nodes and they cut off the supply so that kind of makes sense and that’s what happened to her bowel. And this then sort of happened to other areas in her body over the coming months and we didn’t know much about it. We were just a happy go lucky family and mum was fading away behind the scenes all the time and getting thinner and thinner. And she was at home, and even the blankets were too heavy for her knees, and she’d get a gangrenous knee, and it was, you know, it was really, really sad because mum would look at my brother who was only 12-13 at the time and she’d cry looking at him because clearly she knew more about her disease than I did. We were clueless. Absolutely clueless. Mum was sick – She’ll get better.

The only treatment at the time was steroids and she was treated with steroids. She did improve a little bit around the summertime. And she was able to go for a walk, and there was talk about reversing her – she had colostomy bag, but she never got well enough to be able to, you know, go through surgery again.

And then I think around September, she was quite unwell, and she had a lot more gangrenous areas around her legs and her toes and you know the treatment was still steroids. There’s nothing they could do. They didn’t know much about it. And she went into hospital, I’m guessing, sometime in September, and then she died in early October with just dad with her and my aunt. And like we were all clueless waiting at home for the news to be told about mum.

But I always remember dad telling me that the consultant then, who was actually a pal of my dad’s, and he said we don’t know an awful lot about this disease, but do you mind if we do a post-mortem and take a few tissue samples or whatever it is. And Dad says take whatever you want. Look, what she would want is to know she is you know make making a difference and it’s important to find out about the disease. And you know, it’s funny because I always laugh because mum had an elderly Aunt and dad used to turn around to us and say ‘Don’t tell Aunty Mary!’. But it would have been important to mum and dad to know that she’s making a difference.

And that disease is still – I mean the prevalence doesn’t change but my brother is in the medical field and those patients do much better now, you know, and they live longer and there has been no new treatment but it’s how they manage these patients. And I’m sure it’s probably some of that would have been research into mom, from mum’s tissue donations and maybe others. So, she was a nurse. She was passionate about research, passionate about making a difference. Dad said, look, take whatever you want if it’s going to make a difference and I suppose we’re very proud of that. And I wouldn’t think twice about it and you know, we know where mum is – I just talk to her all the time. As do my brothers.

So, I suppose around the same time that my mom was ill in the summertime, my dad, we move on to my dad’s story now. So, my dad would have complained about back pain when my mother was in hospital. He was in daily to see her. And they thought it was originally a disc problem that he had. And I suppose mom died and then that kind of continued on for a little bit longer. And then he was admitted again to the local hospital to have a disc removed. And he was being prepped for surgery and he was actually in the theatre; because he had gone up to the barrier and moved him across the bed and in the theatre and the neurosurgeon looked at his X-Ray and said this man doesn’t have a disc problem, send him back to the ward.

So then sent back to the ward and they said where do we go from here. Dad had back pain. His foot was starting to drop and they couldn’t figure out what was wrong with them. So, he was under the care of rheumatologist at the time. And it took, they couldn’t figure out what was wrong with dad. And then, I have another family cousin of mine who is a consultant and said look, there’s a really good neurologist in another hospital where he was working, and we moved dad to that hospital. So, that would have been sometime around 1984, maybe early 85 and there was no clue about what was wrong with dad and they did a tissue biopsy in the hospital. And I was originally given the warning that dad might have had MS. And I remember being distraught that dad might have multiple sclerosis. So, when the diagnosis came back after the tissue biopsy that he had Motor Neuron Disease. I was, I was like, oh he doesn’t have multiple Sclerosis – Great! Little did I know – Little did I know at all.

So, dad stayed at home. We, myself and my brothers. I was working as a student nurse and then one younger brother still in school and the other brother was going into college, probably started in college because he’s a doctor now. So we kept dad at home as long as we could but then when I became a qualified nurse we weren’t able to look after dad as much as we thought and had hoped for because clearly, I was working, one brother in college, one brother in school. So, dad went into long term care in the Royal Hospital in Donnybrook and he was really looked after very, very well in there.

I used to visit him every day. If I was in an afternoon shift, I visit him in the morning, if I was in the morning shift, I visited him in the afternoon. So, our routine was very set. And Dad’s mobility, I suppose, dis-improved over the years. Like, he went from being able to walk with a limp or walk with sticks, walk with a frame, into the wheelchair and that’s clearly when he needed a lot of a lot of help and he needed full time care. And the care was amazing that he received. And I suppose you know Motor Neuron Disease -you never lose your mind. You know exactly what’s going on. I do remember one time he was in a lot of pain and he went on MST which is a morphine tablet and he went a bit bonkers for a while – quite senile and actually he remembers coming out of it and to us it was very funny, and he was able to remember the stupid stuff he said to us, so we had a bit of a laugh over that.

He was always curious about his disease and to know more about his disease. And I am guessing my brother would probably have been, he would have done pre-med, maybe had done first med, whatever it was, he must have sent him off on a mission to find out about Motor Neuron Disease. And so, my brother had to bring this book, medical book he wanted him to read about Motor Neurone Disease out loud to dad.  Dad wanted to know what was happening, what was going on because there was very little known about it. No one discussed it, there was no support system. Nothing, absolutely nothing. Didn’t know anyone else who had it. So, I always re-call and this is what dad, or it could have been my brother who told me or dad who told me. So, my brother was reading away about Motor Neuron Disease and he must have come to a paragraph that he didn’t want dad to know so he skipped it and continued on and dad said, you skipped something – go back. I want to know. I want to know. So anyway, dad knew, he knew what his fate was.

You know, a very positive man. I don’t think he ever thought he was going to get better. We were very young, probably didn’t know what questions to ask. I suppose all he was worried about was my younger brother who was still in school. And, you know, is he going to school. Is he going to do his Leaving? Where is he, what he’s up to? And that’s all dad worried about. More so than anything else. I was moving on. I had met my husband at this stage. My other brother was you know, training to become a doctor and he was delighted with that but my younger brother, you know he was the loose cannon – what will ever become of him?

But dad was very, very positive. He had great faith in God. Then towards the end of his life, he, I supposed, he loved his brandy in the evening. Didn’t drink, was a pioneer but then, you know, he decided talking to his sister, who was a great support to us, that he would love to have a drink. You know, so he had his brandy every evening. And then, slowly went downhill. His voice started to fade in I suppose around 1987 sometime July 87 and he could only whisper to us when he was talking. He was very bed-ridden at that stage. I was engaged. You know I didn’t know much about the disease – I was hoping that when I would get married the following year, we could push him down the aisle in a wheelchair. Little did I know that we weren’t going to have much longer with him. And then he died in November the 13^th, 1987 and the day he died was a, you know, an unusual day in that, I clearly wanted to head down because we had gone home the previous night knowing things weren’t good. I got up the following morning to go down and be with this dad because they said they’d call us overnight if there was any deterioration. And my brother, the doctor, wasn’t ready to go. So, I said, I’m not waiting for you. I’m going. So, I headed down anyway. And I was with dad as he passed away, I suppose, within a half an hour later. So, something told me to get up! Get Out! Get down there and it was nice to be with them.

So, you know, I just want to see people working together to find a cure for this disease or find a cure for any disease. And I just want, you know, as a researcher in the genomic space, I would like to see that everyone can work together. They really need to think about, you know, what would the patients want? What would the patients’ families want? And dad would be the same. He just wants an answer and I would like to have an answer. Because every time I hear somebody being diagnosed with Motor Neuron Disease. Oh my god, you know. And there are young people diagnosed with Motor Neuron Disease.

But I just want everyone to work together, and that would be my wish as a family member of somebody who suffered from Motor Neuron Disease. So, I think my job is very, very important now. We need answers for diseases. There’s a lot of diseases out there that people are suffering in, and you know, while the efficacy of drugs might work on 10/20/30%, we need drugs that work 100% on whatever patient they’re on. And I believe that by working in the industry that I’m in, in the genomic industry, that’s the way to go; to identify where the drug will work and so that it will be the right patient at the right dose and the right time and that’s very important to me to know that we can find that.

Elaine Quinn:

Thank you for listening to this episode of In Sequence, a podcast by Genuity Science. While we know a lot about the human genome, there is still a lot we don’t understand so keep tuning in to learn about what we do know and be inspired to be part of the discovery of what we don’t. You can subscribe to In Sequence on Spotify, Apple Podcasts and Google Podcasts – be sure to turn on your notifications so that you get alerts when there’s a new episode!