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Navigating the Diagnosis of the BRCA1 Variant and a Rare Disease

One Family’s Story

Patient advocate and research consultant, Nuala Ryan, talks to us about her family’s journey through her diagnosis of the BRCA1 variant, their search for a diagnosis for her son’s rare disease, and how all of this has impacted her family. We also hear from Abby Langtry, Director of Patient Advocacy and Community Engagement at Genuity Science, who shares her story about her grandfather who had multiple sclerosis and decided to donate his body to science, and how this and her experience as an oncology nurse inspired her to work for Genuity Science.

Podcast Episode Transcript

Part 1 – An interview with Nuala Ryan

Elaine Quinn

There have been extraordinary discoveries around what our genome can tell us ever since the human genome project, which was the very first sequencing of the full human genome. We now know that our DNA can affect our risk for developing conditions like breast cancer and many rare diseases. So, what does having this information about ourselves or our children really mean for us? Will it impact the choices we make around our health?

Today we are joined by Nuala Ryan, a clinical research consultant and longstanding patient advocate. Nuala was diagnosed with breast cancer and discovered she had a variant of her BRCA1 gene. She also has a 13-year-old son, Charlie, who has a rare genetic condition.

Nuala, you’re very welcome to the In Sequence podcast.

 

Nuala Ryan

Thank you, Elaine, for having me.

 

Elaine Quinn

So, Nuala, when were you diagnosed with breast cancer?

 

Nuala Ryan

I was diagnosed with breast cancer in 2016. I had been on regular screening program because I do have a family history of breast cancer. My mother died quite young – she was 46 and she also had a sister in her early fifties who died of breast cancer, so I knew that risk was there. I had talked to my doctor about genetic testing at one point but was told at that stage, I suppose, that there was about a 5% risk of breast cancers that were inherited, so that it was probably unlikely that I was positive, but I continued with the screening. So, I was unaware really at that point that I did have that genetic link. You know, I knew I had the family history. So yeah, it was something that I was monitoring, but was still a shock obviously to find that, that, you know, I had got cancer quite young. I suppose most people who get cancer, breast cancer, about 70 or 80% are kind of over 50 and I was, I was less than that so yeah, it kind of threw me on to that rollercoaster.

 

Elaine Quinn

I can imagine – so what kind of treatment was recommended for you?

 

Nuala Ryan

So, luckily with genomic testing now of the samples of the tumor, the cancer tumor, really helped in kind of giving a personalized treatment and that made a huge difference to me. So, they sent off the sample for the Oncotype test and that kind of gives an idea of your risk of reoccurrence. I had a stage two cancer. It was an estrogen receptor positive cancer, but it hadn’t yet gone to my lymph nodes. So when that test came back, the Oncotype, they were able to say, well, actually, you know, look if we treat you with the surgery, the radiation for six weeks and then the hormone treatment for the five years, uh, that’s enough because actually adding the chemotherapy was only going to reduce my risk by another 2%. So that was, that was really huge because obviously for most women, you know, facing chemotherapy after breast cancer, losing your hair and being very sick, it was great that that genomic testing was able to give that personalized treatment for me to give me the best chance in terms of knowing how to treat my cancer and avoid that reoccurrence

 

Elaine Quinn

So, you knew you had breast cancer and you went through the necessary treatment – what was it that made you push for genetic testing?

 

Nuala Ryan

So, I was young when my mother died and I didn’t realize that she had actually died of her second breast cancer, which was more unusual. She’s had her first breast cancer in her thirties. I have a daughter; I really felt then, well, look, this is more real now for me. I did want to get genetic testing done to see if I had any of the BRCA1 or BRCA2 genes so that I’d know that that’s something that potentially my daughter would need to be aware of. So, I asked again about the genetic testing and initially there was, I suppose, some resistance, but when I saw the oncologist, she put me through for the test but, um, I waited nearly 15 months. So that was in 2016, September, that I was referred finally, but it wasn’t until the end of November of the following year that I actually had the genetic test done. And even at that point, I was told like another five months to wait. You know, it, it was annoying because in the meantime, I suppose I started developing some other symptoms of ovarian cancer. And actually just when I got the phone call eventually in the February of 2018, that, um, I actually had the BRCA1 mutation, I was just leaving the gynecologist office, you know, being told that, you know, I was probably going to, I have to go for hysterectomy. If I had been able to get that genetic testing much earlier, it would have been a big thing for me in order to be able to prevent, 1) getting breast cancer and 2) ovarian issues that I ended up with. Luckily, they were benign tumors, so I didn’t have ovarian cancer. But, I think, having that test and having the availability of the tests would have meant a lot because unbeknownst to me, I was walking around like a ticking time bomb.

You know, potentially having up to 80% risk of getting breast cancer when the normal risk is about 12% in the population and also the risk of ovarian cancer of 40% when the general risk is 1.3% or something in the population. So having that knowledge would have given me great power to prevent any of that happening.

 

Elaine Quinn

Yes – to be able to say that you could have potentially avoided a breast cancer diagnosis altogether, really highlights what having that information can do for people like you. And of course, you had your family to think of as well.

 

Nuala Ryan

Yeah, I have a daughter; I have three brothers and they all have daughters. Um, so actually then once I knew I had that they were able to go to get tested and actually three of my brothers had the mutation and both of their daughters were tested and they both had the mutation. So, my daughter hasn’t been tested yet. She’s 19 so she’ll probably wait until maybe she’s finished college and then do the test. I supposed the risk at her age is, is low enough. And actually, my niece that was tested, she’s actually going to get a preventative, double mastectomy next month.

 

Elaine Quinn

Really? That must have been a tough decision for her. So how old is she then?

 

Nuala Ryan

She is 31 and she she’d already had some cysts and things like that. So, she’s decided that’s the best decision because she doesn’t want to be living with that worry all of the time, every time maybe something comes up or even with the screening that’s available, it’s still a worry every time you go for that screening.

 

Elaine Quinn

And how were your family able to deal with that information? You know, was it just something that you had to discuss among yourselves or was there, you know, anybody you could talk to about what that meant in terms of your options?

 

Nuala Ryan

I was very lucky. I have a brother who lectures in genetics. So, he’s aware of all of this. And that was really helpful. I mean, I went online, and I got a lot of resources and information documents, and I was able to have that discussion, but you know, that discussion is difficult. Like with my, my direct family that was very easy and a very open, supportive discussion. With some of my cousins, my first cousins who, you know, would have been, uh, their mother had died of breast cancer. Having that discussion with particularly, you know, most of my cousins are male cousins, but they have daughters. So, it’s kind of getting them to understand, okay, it’s not just about them and them getting tested, but it’s, it’s about their daughters and what they could potentially be passing on. So yeah, it can, it can be a difficult discussion, but, um, but you know, it’s, it’s a necessary one, you know, and, and that’s something that I was very proactive about in sharing that information so that they could make that decision for themselves.

 

Elaine Quinn

Well, it was it’s obviously great that you had that expertise within and your family, but also that you really pushed to have that genetic testing yourself.

 

Nuala Ryan

Yeah, you know I would feel strongly that even if there is, you know even if they’re saying only 5% to 10% would have a genetic link, I mean, that’s still a lot of women when you look at the level of breast cancer in Ireland. That’s a lot of women that can be affected and make those proactive choices for themselves and take their own health management into their hands.

 

Elaine Quinn

Yeah, just to think that your whole family were able to benefit from that information.

 

Nuala Ryan

Yeah, when we look at the numbers that were affected, you know, having that information for me had a real knock on effect for, for a lot of people, definitely.

 

Elaine Quinn

And then you have a son, Charlie, who is 13 now and he has a rare disease. So, how has his condition impacted your family?

 

Nuala Ryan

Yeah, so, so Charlie is my youngest child of four. I have three boys and a girl and Charlie’s the, the last child. When he was born, I always knew that something wasn’t right -having had three other kids and knowing kind of what milestones etc., that the kids reach. I always knew that something was up. Now actually, the pediatrician when he was born, did think Charlie had very coarse features. He obviously saw something in him that was different, although it wasn’t clear at that point. He monitored him, he didn’t kind of discharge him from the hospital system. Normally you’d go to your GP for follow-ups.

You know, as he was growing, I just kind of knew that he wasn’t meeting anything that he should have and eventually, you know, they did at the age of about 15 months start doing genetic testing on him. Um, they were looking at a number of different syndromes, so he was probably tested for three or four different syndromes, all came back negative. And eventually then they said they would send off a blood sample. At the time, they didn’t have the capability in Crumlin to do the test, but they sent off for an array test to a lab in the Netherlands.

And that came back then at the time. And this was in 2009. At this stage, he was two and a half. And it came back saying he had a deletion in the SMARCA2 gene. Which they determined was really the cause. We, we also had genetic testing at the time to see if we had the same deletion. We didn’t. It was new in him, so we hadn’t passed it on to him.

But they determined that this variant in the SMARCA2 gene was the cause of his problems. And at this point, the problems were a delay in growth and development, an intellectual disability, you know, which he had moderate to severe intellectual disability. He had epilepsy. He had, you know, other skin conditions. So, he had a number of different conditions and I suppose was given this kind of overall global failure to thrive diagnosis. So, it was a long time before we actually, uh, found out his actual condition. So he was, he was, um, diagnosed then only in August of last year, which was nearly 10 years later as having, um, Nicolaides-Baraitser syndrome, or NCBRS for short. So it was only at that point that we were really able to, I suppose, find out a lot more about his condition and talk to other families, which is the benefit of his diagnosis – was being able to kind of go into a support group with other parents who were dealing with children with the same syndrome, and knowing what to expect.

 

Elaine Quinn

So how rare is NCBRS?

 

Nuala Ryan

So, it is a very rare and just to say that there are three kids in Ireland that are known to have the condition, and we know that there’s about 188 cases worldwide.

 

Elaine Quinn

And how is Charlie now? What is he like as a 13-year-old?

 

Nuala Ryan

Charlie is a very happy child. That’s actually one of the things with the syndrome. I think the oldest child is in their forties now actually, but they’re all happy. He’s in a special school.  You know, we started him off in regular school – he’s in the special school now and he’s getting the support he needs.

You know, one of the things that when we did finally find out last year, the geneticist that we were dealing with, kind of said at the time, well, really, it’s nice to know, but it doesn’t really affect your child’s prognosis, you know, or had we known earlier, it wouldn’t really matter. But you know, that’s not really true. As a parent, you want to know what to expect for your child and you want to know how to best manage them and I think had we known earlier, we may have been able to push for different services that may have been available with a diagnosis as opposed to no official diagnosis.

 

Elaine Quinn

So, you were really left to navigate it yourselves without having any idea of what to expect.

 

Nuala Ryan: Yeah, and the information about this particular variant was available from much earlier. So, you know, had the resource been available to kind of re-look at data kind of over the years and new information that was coming available, we probably could have had that diagnosis maybe eight years earlier.

And I think we found out really by chance because another child came into the hospital and they ended up sending the sample to the same lab in the Netherlands who came back and said, this child had the syndrome and then said, by the way, you know, you sent us a sample 10 years ago. It’s the same, it’s the same variant. And you know, that other child also has that syndrome. So, so it was by chance, you know.

 

Elaine Quinn

So it was luck really that helped you to get that diagnosis in the end! And it was such a long wait to get to there. Wasn’t it?

 

 

Nuala Ryan

Yeah and that’s why I think, you know, when I see on the Genuity Science website, the rare disease study and the fact that they’re, you know, Genuity are putting that resource into relooking at that data every two years. You know, I think that’s a huge benefit for families because even if that variant isn’t known then, there’s so much advances going on and in terms of, new information becoming available. So that that kind of relooking at cases is really important.

 

Elaine Quinn

Absolutely, and gives that hope to families as well that there may be a diagnosis in the future. So eventually when you did get the diagnosis for Charlie, it must have been such a turning point for all of you.  Did you notice a big difference in terms of the services that were suddenly available?

 

Nuala Ryan

Yeah, now. I mean, obviously, you know, as a parent, you are pushing, you have to push a bit more. Right. And we did push, and we did get services. You know, I think we would’ve got more, you know, because if you can show that obviously speech – there’s a lot of children actually with this syndrome who are completely nonverbal, you know even, up to half the children are non-verbal. Charlie was very delayed in speaking, you know, we actually were teaching him sign language because they thought he would never speak but he did when he was aged five and he hasn’t really shut up since, but, you know maybe some earlier intervention he may have talked earlier. And we ended up getting testing done because he was, he was very, very small. He was getting all these hormone tests, you know, but really, I suppose small stature is a part of the syndrome. So, you know, he may also have been avoided certain tests had we known the syndrome.

 

Elaine Quinn

And then of course, as in your situation, the comfort that comes with knowing that your child didn’t inherit the condition from you.

 

Nuala Ryan

Yeah, now, I think what is known certainly is that actually all of the children that I know about, that have the syndrome, didn’t get it passed on from their parents, but saying that, if any of those children then did go on to have children, there would be a 50% chance that their child would have that mutation.

 

Elaine Quinn

Yes. And even for parents who say, have a child with this condition and whether they’re thinking of having more children and the likelihood of them having another child wiith this condition, it’s important information.

 

 

 

Nuala Ryan

Yeah, it would be very rare that anyone having a second child, the child would have the same syndrome because of that.

 

Elaine Quinn

So, Nuala you’re also then a graduate of the IPPOSI patient education program. Maybe you can tell us a little bit about that and how that has helped you and your family?

 

Nuala Ryan

Yes, I have a clinical research background, so I’ve always worked in research for the last, nearly 30 years. I would have said I was always patient focused, and I worked in patient engagement activities as part of my clinical research but when you see it from the other side, as a patient, you really get a different perspective.

So, I suppose my passion then was really ensuring that we have that patient engagement in all of our research. And that was one of the reasons why I applied to go on this patient education program, and I have to say that it was really useful. I mean, obviously the content itself, that you’re finding how as a patient advocate, you can be involved from the very beginning, right through to the very end of the drug development process, the approval process, whether the drug is reimbursed, etc., but also the fact that I was on that course with a great network of other patient advocates, across lots of different medical conditions. So, you’re also learning from them.

One of the things that I’ve been involved now as an advocate in many different committees with the HPRA the regulatory authority with the HSE. I’m also on the board of NCBRS, which is my child’s syndrome so I’m able to really raise awareness and try and get more research into that area. So that that’s obviously really important to me and having done that course has kind of opened up a lot of windows, you know, and opportunities for me to do that. So yes, it’s been very, very useful.

 

Elaine Quinn

And I feel like that there is beginning now to be more of an emphasis on the importance of patient involvement in clinical research. Why do you think patient involvement is so critical to ensuring the success of medical or clinical research?

 

Nuala Ryan

Yeah. I think you can never assume what’s important to the patient. I was at a conference in London earlier this year before lockdown. It’s called ‘Patients as Partners’ and there was a really good example. There was a lady presenting who had Parkinson’s Disease and they went through a very detailed and there was some invasive kind of techniques involved in the study. But at the end of the study, every patient that was in there, that was involved really felt a huge benefit from the trial and the drug that was being tested. But ultimately the drug failed because the outcomes that they were measuring for that drug’s success were different to what the patients would see as a success.

So, if there had have been a patient involvement at the protocol stage, in terms of deciding what are we going to measure to show if this drug is effective? Well, then, that would have probably meant that that drug would have been approved. And then, of course, the patients lose out because that drug isn’t available to them. You know, as part of the course, you know, I worked in clinical research, but I probably wouldn’t have been as involved in as the process in terms of how the HSE would decide which drugs will actually be reimbursed and be available to patients. Even drugs that are approved by the regulatory authority, you know, because again, they have to show, well, how is that drug giving a benefit over something else that’s already on the market? Patients are really good to be able to give that information on that, what we would call the risk-benefit analysis to say, okay, maybe if we’re looking at the efficacy of the drug, it’s not really better than the other things that are on the market, but there may be other reasons why it’s a lot better and having that patient input and discussion, you know, could make a huge difference to the decisions that are made.

 

Elaine Quinn

And when you’re considering the cost of these drug trials – you know hearing the example you gave of a research study failing because it didn’t consider patient input from the start, it just seems to be a no brainer alright. And so, what are your thoughts then on participating in medical research? Is that also something you’re supportive of?

 

Nuala Ryan

Yeah, you know, I suppose genetic research is really important to me because of my personal experience and I took part in one of Genuity Science’s studies, which was the GenoFit study on the whole genome sequencing to show in the future, better diagnosis of different conditions, better treatments, better preventative measures. So, I took part in that. Um, I knew at the time that I wouldn’t be getting the genetic results back, that was explained, but you know, I’m working on a working group, looking at such incidental findings as they’re called to see how that information can get, in the future, back to patients because it’s important that we share any information that we can back with the patients as well, if they’ve given their time in a study.

 

Elaine Quinn

Exactly and also to think about what kinds of support systems or infrastructure we need to have in place if we’re to return these findings. So, Nuala, we’re just coming to the end now maybe you could tell me, is there anybody who has been a particular inspiration to you or a hero that you’d like to share with us?

 

Nuala Ryan

Well, one person I really admire and would inspire me in terms of what I’m trying to achieve in my patient advocacy role is Vicky Phelan.

And for anyone that doesn’t know, Vicki Phelan, she was a really strong patient advocate. She was a person who received a terminal cancer diagnosis, which came about, I suppose, as a result of a kind of an incorrect cervical smear result which meant that, you know, she couldn’t deal with some of the issues earlier that she should have been able to deal with. So she ended up with a terminal diagnosis, but she had just such strength of character and determination, not just about fighting to learn more how to treat her own disease, but also to help the other 220 women who had also had an incorrect smear result, which also resulted in development of cervical cancer for them.

So, she had written a book called ‘Overcoming’ and I read that and it just shows, not only, I suppose her strength of character in dealing with that particular cervical cancer diagnosis but also some of the other things she had to deal with in her life. So yeah, I really admire her strength of character and determination and I would hope that I would be able to, you know, have the same strength as her in kind of pushing forward in terms of pushing some of the areas of concern that I would have.

 

Elaine Quinn

Yes – Vicky Phelan is a real inspiration for many and I have no doubt Nuala, that people listening to your story will also be inspired by your strength and how you’ve used it to be such a supportive voice and advocate for patients and families. Would you say you feel hopeful now when you think about the future and the potential for genetic screening to be made more widely available for people?

 

Nuala Ryan

I do think that, you know, the government obviously needs to have, and that’s another thing I’ve been advocating for is to have a, kind of a stronger genomic strategy for this kind of testing and kind of more resources within the country. I think it’s the way, you know, the world is going and, and obviously there’s a lot of advances in that area, but the government do need to kind of have a better strategy around this to make sure that we get the best benefit. I think for our family, at least once my kind of condition was known, or my BRCA1 status was known, it was much quicker for the others because they just had to get that test for that particular mutation and it was a bit more efficient, but that initial stages, you know, we need some improvements in terms of kind of availability of testing, I think. But I am positive about the future in terms of what the benefits can be brought from this type of testing.

 

Elaine Quinn

Well, you know, continue with all your great work and thank you so much for talking to us today.

 

Nuala Ryan

No problem. Thanks very much, Elaine.

 

Part 1 – An personal story by Abby Langtry

 

Elaine Quinn

The personal story we share with you today comes from Abby Langtry, Director of Patient Advocacy and Community Engagement at Genuity Science. Abby talks about her grandfather who had multiple sclerosis and decided to donate his body to science and how this and her experience as an oncology nurse inspired her to work for Genuity Science.

 

Abby Langtry

So, I guess my story on why I joined Genuity Science begins back in the early fifties in Hollywood, California, and it begins with my grandfather who was diagnosed in the early fifties. And actually, I only found out recently in the last couple of weeks that he was, it was actually August, 1952 when he was diagnosed.

I got this letter in the post when an uncle of mine was going through, another uncle’s belongings after he passed away, and I guess it gives some context maybe to my story. And I’ll just read a little. And this was written by my grandmother, I think in 1970. And it pertains to the fact that my grandfather actually donated his body to science um, and he wanted to do that so that medical research into multiple sclerosis could advance. And at the end of the letter that my grandmother has written to the college, UCD, donating my grandfather’s body, she says:

Mr. Darby’s multiple sclerosis was diagnosed in August, 1952. Deterioration had been gradual, but steady over the past 18 years. A heavy smoker prior to diagnosis, he stopped completely, immediately after his diagnosis.

In 1952, he was in very poor condition and agreed to, on urging, that he should adhere to a nutritional plan as advocated for general health by an American nutritionist Adelle Davis. The results were spectacular. And we were able to travel to the United States to enjoy a year’s holiday plus five months of travel throughout the States. The foregoing may be of interest to you in view of the ensuing medical study.

And I guess that really means that maybe in my genetic makeup, an interest in research um, is there from a long time ago. And when my grandfather was diagnosed with multiple sclerosis, my grandmother and my grandfather, and seven of their children moved to Ireland. Not a common thing back in the early fifties to move from sunny California to Ireland, but they did that. It was a brave undertaking, but they did it because they thought they would have a better quality of life. And they lived happily in Ireland, until my grandfather died. And I think he died around 1971 and then my grandmother stayed on until the late, the mid-eighties.

And I, I guess, The fact that, you know, I, as a young child, remember being wheeled around my grandparents’ apartment and there was a massive hall and it was tiled. And my grandfather used to wheel me around sitting on his lap in his wheelchair. And I knew he had, multiple sclerosis, but I didn’t know what multiple sclerosis meant. And that had an impact on me as a young child and the fact that when he died in 1971, he wasn’t buried, and talking about it, my grandmother said he was very, very keen on having, his body donated to research to see if there was a cure for multiple sclerosis and, you know, 50 years laternearly there still isn’t a cure, so what can be done about that? So that was always in the back of my head.

And then, I guess healthcare was, was also on the cards for me and I did nursing in Vincent’s and after I finished in the mid-eighties as a nurse, I decided to go to New York because there was no jobs in Ireland. It was the middle of a recession. And I did what everybody else did and left for a year um, but ended up staying 13 years in Sloan Kettering, because when I went to Sloan Kettering, I saw the value of research and clinical trials. Um, and I had come from an Ireland where, if somebody was diagnosed with cancer, particularly if it had spread anywhere outside of the primary site, there was very little hope. And indeed the care at the time was that people were treated with utmost dignity were kept pain-free and the support of their family and whatever religious background they were, their pastor, priest, rabbi was called in and they offered the support. So, there were no real treatments and there was certainly no clinical trials or research. Back then it was, really a death sentence.

So, I then end up in Sloan Kettering, which is one of the world’s largest research hospitals for cancer. And that was where I saw that, actually, research can make a huge difference and can indeed lead to cures in certain situations. But it also showed me the altruistic nature of people who actually have an illness and there’s no known cure for it, but they were willing to go on clinical trials to try and make the future better for other people.

And I always remember a woman by the name of Ann and she I’ll never forget was in room 1224A and Sloan Kettering is on the upper East side of Manhattan and from her bed, you could stand up, look out the window and see the boats going up and down the East river. And I remember saying to her on the first day that she was receiving a drug, which is now gold-standard therapy for women with breast cancer but at that time, and it was purely experimental and it was called Taxol and she was one of the first people receive this particular dose of Taxol, which ended up becoming the therapeutic dose, to treat women with breast cancer. And I remember asking her, why was she doing this? She was in her early sixties and while her cancer breast cancer, wasn’t going to be cured, she probably had, you know, a few months left to live, but she didn’t know what the side effects of this drug were going to be. So, she went on the treatment because she said two things to me. She said one, Abby, it may help me. You know, we don’t know, I may get a few extra months, but what I definitely want to do is help people coming behind me. And that always stuck with me. That idea that people were willing to do research programs that they didn’t know what the outcome would be and that they would hope that it would be for the benefit of other people.

So that I guess, together with my grandfather’s story, those two experiences always were with me. I always carried them. But you know, when our first daughter was born in 1999, we decided to come home to Ireland. Um, and at that stage we were coming home to be near family. Um, I had worked a long time in Sloan Kettering. I knew I wanted to stay working in oncology and I started working then with the Irish Cancer Society and it was through my work with the Irish Cancer Society and setting up Action Breast Cancer there that there, I saw, you know, the role of advocacy and how, um, groups in advocacy can help research, promote research and help people with different illnesses. So, I stayed with the Irish cancer society for about eight years, and then I worked in palliative care for a while. And then I decided when the children were a little bit older that I wanted to see a different side of healthcare and research.

So, I’d worked in the clinical side, I’d worked in the not-for-profit and then I decided I wanted to see what industry was like. So, I worked with Icon, which is a clinical research organization. And while I was working in Icon, very, very happily working in icon, not looking for another job at all, I saw article in one of the news Sunday newspapers, a very small article, and it talked about how this new company had just received funding for, um, to advance precision health. And it was through genomics research. And the company at the time was Genomics Medicine Ireland. And I read the article and I did a little research of what the company was aiming to do and in looking to try and improve the lives of millions of people through genomics research and trying to make precision health a reality whereby people could potentially be getting the right drug at the right time, you know, with much fewer side effects and a much higher, um, hope for a cure. I thought I want to be part of that company. So, I banged on the door. I did it loads of things, and eventually, um, I joined GMI, which is now Genuity Science. And it is such a privilege to be working here with so many people who want to advance healthcare for the right reasons. And we want to do it quickly and we want to do it, I suppose, with the creativity, the integrity, and I guess the belief that through this research, we can really improve the lives of millions of people who are currently living with complex diseases.

 

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 a part of the discovery of what we don’t.

Host

Elaine Quinn
Education and Information Services Lead
Genuity Science

Guests

Nuala Ryan
Patient Advocate and Clinical Research Consultant

Abby Langtry
Director of Patient Advocacy and Community Engagement
Genuity Science