PLEASE NOTE:  This transcript was largely AI-generated and may contain errors!

E45 Full Aud

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Introduction to Rare Diseases

[00:00:04] Claire Green: Welcome back to Primary Care UK. This is episode five of our six part series on genomics, today covering rare diseases. It's sponsored again by the North Thames Genomic Medicine Service and I'm Claire with you throughout the series and with Munir once again. 

[00:00:20] Munir Adam: Yeah, hi again. Claire, why are we covering rare disease again?

[00:00:25] Claire Green: What do you mean? 

[00:00:26] Munir Adam: Well I mean, we're primary care, right? So, I'm a bit wary of saying that really, because every time I've got a question, they end up excellently answering it and responding, made me realize how wrong I was. You know, when we started this and I was like, why would we want to know about genomics? And it was very convincing. And then we've done episodes on things that are like hypercholesterolemia, so heart disease, the biggest killer, and how genomics is relevant for that. We talked about cancers, like breast cancer, lung cancer, so you think that genomics is this rare niche thing, and it turns out to be very, very relevant. 

[00:00:56] But now, rare disease? I think this is the biggest one. This is going to be their biggest challenge, really, because I definitely need a bit of convincing. Because Primary Care is all about common stuff, normally. 

[00:01:07] Claire Green: To be honest, I think you've just highlighted, you know, what a great job they've done so far, so I think we should probably wait and see.

[00:01:13] And see what these guys have got to say. So, yeah. Who have we got with us today? 

[00:01:18] Anwar Khan: Hi, I'm Anwar Khan. Some of you may remember me. If you don't, I'm a frontline GP with an interest in genomics and I'm one of the North Thames GMSA GP leads. 

[00:01:29] Sophia Varadkar: Hi, hello, my name is Sophia Bradker and I am definitely a rare disease doctor. So I am a consultant paediatric neurologist and I look after children who have got rare epilepsies. The reason I'm here is because I have another role. I'm co medical director for the North Thames Genomic Medicine Service and that encompasses both rare diseases and the cancers. So many of the things you've already been talking about through these podcasts.

[00:01:56] So thank you very much for inviting me to join you. 

[00:02:00] Claire Green: Well, thank you both very much for joining us today again. 

Understanding Rare Diseases and Their Prevalence

[00:02:15] Claire Green: Would you be happy to start off sort of telling us a bit about rare diseases and their significance? 

[00:02:19] Sophia Varadkar: Sure, absolutely. So just thinking about what you said about cancers and things that we all think are much more common. Yes, indeed, rare diseases are rare. Now, some of us love to have a definition and if we were looking for a definition of rare diseases, any condition that affects less than one in 2, 000 people. That's not, may not be as rare as you actually thought. But if you add that all up, what you actually have is one in 17 people across their lifetime will be affected by a rare disease.

[00:02:53] One in 17? Yes, one in 17. So that's 5. 8 percent of all people. 

[00:02:59] Munir Adam: Oh, that's not rare at all. Okay. 

[00:03:01] Sophia Varadkar: Correct. Yeah. If you add them all up. So each individually is rare, put the whole lot together and not so rare. And all of us, no matter what area we work in primary, secondary, tertiary care. In fact, in our own lives, sitting around, you know, the dinner table or, you know, in the pub before the soccer match, everybody's talking about their health and somebody will have one of these.

[00:03:24] In fact, across the UK, you're talking about 3. 5 million people. I'm a pediatrician. Most of the rare disease shows in children. So actually three quarters of rare disease shows in children. And the reason we're here from the genomic medicine service is because eight out of 10 of those will have a genetic cause.

[00:03:44] And you might be getting tired of all these numbers, but we're actually talking about over 7, 000 rare diseases building into that. 

[00:03:51] Anwar Khan: But also Sophia, I think my point is also the impact on the families and their extended families. So, there's a lot of people affected emotionally, if not directly physically. 

[00:04:04] Munir Adam: So, so that sounds like there's going to be an awful lot of people in our surgeries who actually have, a rare disease and then on top of that there's the impact that it has on their families as well who are also probably registered in our surgery. There's quite a lot of relevance then. 

[00:04:18] Anwar Khan: So the other thing you might want to think about with genetic diagnosis is actually not only the treatment, but the screening for it. And, and I think from my perspective, we need to be looking at it as we look at any other diseases, actually, in a, in a standard medical manner of taking a history, examining and, and, and doing the appropriate investigation, which is often a referral. 

Suspecting Rare Diseases in Primary Care

[00:04:42] Claire Green: But obviously, as they're rare, Anwar, what should be prompting us to think that this could be a rare condition? You know, how, how, how are we in primary care thinking about identifying these rare diseases or what should prompt us to think? 

[00:04:55] Anwar Khan: So I wouldn't think a bit about, oh, I've got to find a rare disease. Let's do it. It's actually, when you've got anybody presenting, Uh, with with a condition think genetics genomics, uh, for example, everyone knows of uh, You know Christian Erickson you know falling down on the football field sudden cardiac. Sudden cardiac death syndrome, isn't And that, if you come across that in any family, it's actually worth taking a history and trying to just to find out if there are any other people in the family affected. Taking a personal history as well for symptoms like fainting, palpitations, chest pains.

[00:05:31] And there are tests that we can do in general practice, like ECGs, ECHOs, stress tests. Testing and home to monitoring. And if at the end they were not sure and we think there's a genetic element, I think we refer to our geneticist with this excellent referral form that we've developed in North Thames as well, uh, that links into the primary care system.

[00:05:49] And I think Sophia, you might want to say if you get a referral from us like that, 

[00:05:55] Sophia Varadkar: So I think that's a really important thing to bring up. 

Testing at the Specialist Clinic, and it's Benefit

[00:05:58] Sophia Varadkar: Sudden cardiac death. Um, I'm not usually a numbers person, but I have another important number for you. It's 1, 500 sudden cardiac deaths in the UK each year in people under 35.

[00:06:12] So actually really young people where this could be prevented. And there's been some really good work across the genomic medicine services in the UK, projects looking at these supporting families who've lost a loved one from sudden cardiac death and gaining consent from the families to look at tissue and arrange genetic testing on the person who has died, what's termed a molecular Autopsy and then looking for specific conditions 

[00:06:41] Because there are causes that many of you will have heard of cardiomyopathies. So where you get an enlargement of the heart because the muscle is not working or channelopathies. So that is at the level of the cells in the heart where the sodium or the potassium channels aren't working and you get a sudden arrhythmia and a previously normal healthy person, for example, like the foot ballers, they, they suddenly dropped dead and so important to pick this up because there is the potential for treatment either with medications or with internal cardiac devices. So a positive test allows if it's in life. treatment, if it's for a family member to actually get in there with the treatment before it happens, but also that understanding and also for family members to know, I don't have that genetic cause, actually, you know, that there is a relief in there as well, a relief that you understand, a relief that there's treatment and a relief that you may not be the person in the family that has it.

[00:07:41] Anwar Khan: And in some ways, whether you're affected or not, there's a clarity of purpose. of treatment options, et cetera. That's what we're saying is bringing clarity earlier, taking uncertainty away. 

[00:07:51] Sophia Varadkar: Yeah. And there are very, very good inherited cardiac disease clinics around the country. 

[00:07:57] But thinking actually with when, when we think about genetic testing and we've just first an example, which actually is after death. Genetic testing goes right from the very beginning. In fact uh, previous podcast, you will remember that Angie Brady talked about the possibility of antenatal prenatal, so before birth testing. 

Generation Study: Newborn Screening and Genetic Research

[00:08:19] Sophia Varadkar: And the really exciting thing now is something called the Generation study that Anwar and I really want to tell you all about, and you're all familiar with newborn screening. The heel prick test for nine different conditions. And we've been doing this for 40, 50 years for congenital hypothyroidism. And now it's been expanded to cystic fibrosis, which we talked about in these podcasts, but also sickle cell, which is hugely important to identify and treat as well. 

[00:08:47] This is, this is really exciting. This is actually testing for over 200 genetic conditions. Now, they're rare. What? Add them all up together. Yeah, over 200. 

[00:08:59] Munir Adam: I remember, I'm pretty sure that wasn't it a while ago that it used to be only three or four? I mean, it's, now it's, you know, and then I heard, well, it's gone up, and it went up to five, six, seven.

[00:09:08] But that's a big jump, isn't it? 200. 

[00:09:10] Sophia Varadkar: It is. It is. Now, I should say, this is a research study. Um, it's a national study across all of England led by Genomics England with full support from the NHS. And the mums are being offered the study while they're pregnant. So the research midwives in the maternity hospitals are discussing it with them.

[00:09:32] And then it's a sample of cord blood when the baby is born. Or if you miss the cord blood, you can come back and do it after the heel prick is done. And that goes off for analysis and testing for over 500 genes. And Then if a condition suspected gene is found, that's the term that's being used, that's why I say that, uh, we're notified in the genomic medicine services, and then we get in touch with the specialist pediatric services who reach out to the family.

[00:10:00] And an example of that is there are bleeding disorders where newborn babies can have bleeds into the brain in the first couple of weeks of life, and you can imagine if you get a bleed in the brain, an intracranial hemorrhage. Actually, that could result in lifelong disability, neuro disability, even death.

[00:10:20] So the opportunity to pick that up before it happens and to prevent that, it's really exciting. I mean, there are so many more of these, you wouldn't be able to shut me up. Well, 

[00:10:31] Munir Adam: that's the thing I was wondering about, actually. Is it just academic? Is it just research? Or can you actually do something about these babies if you find something wrong?

[00:10:41] Sophia Varadkar: For sure. Each of these specific genetic changes and conditions have been chosen because each one will present and show itself in the first year or two of life. And each of them has got a treatment or an intervention, sometimes even a cure, available on the NHS. So really worthwhile actually picking these up.

[00:11:08] Munir Adam: Wow, that potentially really amazing. Sounds like a lot of work for some, for somebody who's looking at all of this. 

[00:11:14] Sophia Varadkar: And actually, it is a huge amount of work. But it's worthwhile work, but actually it goes right across. It goes across, you know, uh, primary care in North Thames. We're going to be uh, recruiting a health visitor, but the midwives are all involved with this, our nurses it's, It's across so many different areas.

[00:11:32] And in fact, once a diagnosis is made in primary care, the person that the families trust most and want to ask about it will be their GP practice. So I think it's really important that we all know about this. 

[00:11:44] Anwar Khan: But also I think early identification does help customize plans early on, I must say, you said it's only a research, but actually that research data is going to help us think of public health strategies and resource allocation. So, I think it will help the strategies. 

[00:12:01] But on the front lines, Sophia, I think GP are thinking oh God is going to land on our on our doorstep.

[00:12:06] A lot of the counseling and things will be done by the team. And it's really for affirmation and confirmation for the GP, isn't it? 

[00:12:14] Sophia Varadkar: Yeah. You're correct Anwar. When a baby has a condition suspected gene, all the reaching out to the family and the confirmation testing, beginning treatment, will be led by the pediatricians.

[00:12:31] The GPs will be very important. and the primary care clinicians will be very important for supporting the families, signposting the families to resources, and helping to think about the implications for the wider family and who else might need a referral to either clinical genetics or pediatrics or adult services.

[00:12:55] But we will lead it from the children's hospitals, as we should. Okay, that's a relief. But everything always begins, doesn't it though, with us? 

[00:13:04] Munir Adam: Well, that's absolutely fine. Eventually it might reach primary care, but at this point that's just a relief to know because I was thinking about patients coming to and saying naming conditions I've never heard of and, to know that we're not so involved with the counseling and the stages. 

[00:13:17] But the other part you mentioned, the important role that primary care does have. . Absolutely. Providing that general support, is what we do day in, day out. day out, really. 

[00:13:26] Claire, I don't know about you. I feel it would be useful to have maybe an example of a condition to try and relate some of the things you've said. 

[00:13:34] 

Case Studies: Rare but Treatable Epilepsies

[00:13:35] Claire Green: I always find case studies really helpful in terms of kind of embedding the knowledge and thinking how it affects it from sort of all, all angles, really.

[00:13:45] Anwar Khan: So one that comes to my mind is the uh, and Sophia, I apologize if I've got it wrong, but the GLUT1 deficiency syndrome and quite often those were tested by a time of three or four years old after developmental delay has set in and they are difficult to treat epilepsy and no causes found by standard tests.

[00:14:06] Would that be an example, Sophia, you want to expand upon? 

[00:14:09] Sophia Varadkar: Yes, certainly. So there are a number of rare but treatable metabolic epilepsies. The vitamin B6 responsive epilepsies are another excellent example where babies are born and will have seizures starting from birth or early on, and they can be immediately and easily treated with medication. Vitamin B6 pyridoxine. 

[00:14:36] Another example of that is biotin deficiency, so biotinidase deficiency, an enzyme for biotin, another vitamin, and GLUT1, which Anwar mentioned. So in GLUT1 deficiency syndrome, the problem is you can't get the glucose, the sugar from the blood across your Into the CSF, the cerebrospinal fluid.

[00:14:58] So we all know what happens if you're low in blood sugar, low blood glucose, your brain doesn't work properly. And these children are well treated by a specific diet, the ketogenic diet. Now you may all have heard of the ketogenic diet in terms of like an Atkins diet and fasting, but actually it is, it is what that diet does is it, it.

[00:15:19] offers a different form of energy into the brain as ketones. And ketones are what you smell on your breath when you're very hungry because your body and your liver is saying, I don't have enough glucose. I'm going to make some ketones. So they are some examples of rare, but treatable epilepsies. 

[00:15:37] Another example, which isn't so rare, but will be a good thing to think about is tuberous sclerosis. So tuberous sclerosis, again, if you can make that diagnosis, it is a multi system disease. It's not just the brain, it's the kidneys, it's skin, but there are specific treatments which are available where if you know you have that genetic diagnosis, you can be referred to a special service, but also it allows you access to a number of different drugs and treatments, which you would not get otherwise.

[00:16:07] Anwar Khan: I must say genomics prevented this What is often termed a diagnostic odyssey where you go from test to test, consultant to consultant. 

Counselling - Whose job?

[00:16:15] Anwar Khan: The other thing. I was so it's going to ask about the recurrence risk is low in these situations that that does allow us to counsel the parents Would that be the role of the geneticist or do you think we have a role as well, giving our connection to them 

[00:16:29] Sophia Varadkar: So I think that Nobody 

[00:16:31] should underestimate the knowledge that primary care clinicians have of a family. I do have to declare here now I'm a GP's daughter and I grew up in the old fashioned single handed practice in the suburbs of Dublin in Ireland. So, you know, and I do remember that. And, and when I'm talking to GPs about families, they know everything about them. 

[00:16:56] Picking up the discussions in the previous podcasts about types of how inheritance goes. Autosomal dominant, where there's a 50 percent chance of the disease happening again in another baby. Autosomal recessive, where you need to get a gene from both your mother and your father and there's a 25 percent chance. But actually a lot of the rare diseases can be inherited. they happen out of the blue. And I think this term was used on the previous podcast as well, de novo. So it depends what it is. 

[00:17:28] And there's something really important there about understanding what is in the genetic report. So I don't think it, It's not whether you are primary care, secondary care, doctor, nurse, paramedic, pharmacist, you know, what your role is. If you feel competent, if you have the knowledge, if you're comfortable, then you can have those conversations with the family. So in primary care, if you are a specialist GP like Anwar, if you feel actually, I'm so familiar with this, I know, or this is the second or third child in the family. And now I'm an expert on it with, you know, with those expert parents.

[00:18:05] So to me, I think that's the important thing. Discuss something if you're comfortable, if you're not. You've got colleagues. 

The Expert Patient

[00:18:13] Anwar Khan: And Sophia, you remind me of something. I know Munir said earlier that, um, there'd be conditions he'd never heard of. I've often found patients with relatives with the condition know more than geneticists even, you know, so, so it's, I, I learned a lot from patients, with Huntington's and other things, and I was a geneticist more than 30 odd years ago. So patients are often a good source of information as well as our genetic colleagues letters to us. 

[00:18:39] Sophia Varadkar: Absolutely. Again, the expert patient and In pediatrics, the expert parents, and then the young people when they know all about it, and there's something also really important there, and I think it kind of goes back to what we were saying at the start about what should make you think about this.

[00:18:56] It's That listening to a person who just knows they don't fit in with the usual diagnosis or a parent who says, and we're really trying to learn this lesson in pediatrics, listen when a parent is saying something's not right and often actually with rare diseases and in genetics, that's the thing to pick up and to consider.

[00:19:19] Munir Adam: What happens often in primary care, we see a lot of patients who, when they've left, we're actually thinking, I'm not sure I've seen this before, I'm not entirely, you've got those who are the bread and butter common presentations, but you've got those where we're a bit stuck. In situations where you're getting this feeling, your sort of second mind, if you like, is telling you, I'm not really sure what could this be. Maybe then to think, maybe it's one of those rare conditions. Because as you said, there are so many of them and we just don't think of them. 

[00:19:48] Sophia Varadkar: This whole explosion in genomic testing has really only happened in the last 10 years. And I was doing a clinic recently and one of the practice educators from the genomic laboratory hub was with me. And as I looked at all of the children and young people coming into me, almost all of them had had a genetic test at some point, and it had been useful.

[00:20:11] And. The term that we use in medicine to describe useful is clinical utility. So we've touched here on how it helps to understand how it helps for a family. And. how it helps with choosing the right treatment. And I know in future podcasts, you're going to focus on pharmacogenomics. So I won't talk too much about that.

[00:20:34] But I also alluded to the fact that you need sometimes to have a gene diagnosis to get access to a treatment and cannabidiol for SCN1A genetic epilepsy also called DRAVE was one of those in particular, but it's also about which investigations to do which tests and Anwar said to you about ending the diagnostic odyssey, stopping doing unnecessary tests, and then moving on to that recurrence risk, counseling, family planning, potential medical risk to brothers and sisters.

[00:21:07] So there's so much in there that actually makes it worthwhile doing in a rare disease, just the same as it's worthwhile doing in the more commonly seen diseases. 

[00:21:19] Munir Adam: Now you say that, it seems so obvious. You hear the word rare or you think of rare and you automatically think this is where it's not going to happen. And that's where we don't want to get caught out. 

Ethical Considerations and Equity in Genetic Testing

[00:21:31] Claire Green: So, Sophia, in relation to the generation study along the lines of things like informed consent and ethical considerations and, you know, for example, if a patient ends up with a rare genetic kind of diagnosis on their records. Is this something that would affect them going into adult life? 

[00:21:50] Sophia Varadkar: Claire, thank you. Um, What you've brought up is, is really, really important. And you'll notice the hesitation and the pause in my voice as I think about this. The generation study is a research study, and I feel really strongly that every research study has to have really robust research governance. Now that word governance is a big, broad umbrella term for having proper, good, informed consent having gone through appropriate ethics committees that have thought about all the different implications and having thought about, um, information governance and data protection and all those many, many aspects and thinking about consent in every way genetic studies or genetic testing of any type is a real area of, um, intense discussion. And there's been a lot of work done on this by the Nuffield Bioethics Group, the NHS Race and Health Observatory have produced recent reports because when you have a genetic result, it's not just for you. And the medical term that's sometimes used is the proband.

[00:23:07] You have a family and we've touched on cascade testing. And so it's not just what you decide, it's the implications going forward for the future. So for the generation study, there has been a lot of thought about this. There's all families before they participate are given written information, are given time to consider it. And they can also Withdraw from the study. You can change your mind and come out of a study. 

[00:23:32] However, once your baby has that test done, it's too important not to share that result. That's when you cannot come out of the study because actually your child has the potential for treatment and that's really, really important for protecting and safeguarding that child. 

[00:23:50] Anwar Khan: , thank you very much, Sophia. It is, um, helpful to have that clarity because you're right. There isn't a black and white, right answer. 

[00:23:58] What we do know research governance will cover most of it. Um, it does actually come on to when we get in consent, et cetera, about how patients take that on. And there is a potential some groups will not take kindly to having Pandora's box opened. Some groups may not actually understand it from language perspective, et cetera. And any thoughts about equity and accessibility of genetic testing across the population? 

[00:24:27] Sophia Varadkar: Yes, absolutely. And I, I think I began to touch on that when I mentioned the NHS race and health observatory report, which is on ethnic inequities in genomic and precision medicine.

[00:24:38] And what we know, what's become so clear, I think particularly uncovered by the COVID pandemic and as was becoming clear with the Marmot report in early 2020, which many of you will be familiar with, if not, I suggest you Google it. But there is under representation in access to getting genetic tests in our ethnically diverse populations, but also in our populations who live in poorer areas, are underserved populations.

[00:25:14] We need to think about what are the barriers to our ethnic minority groups getting testing, getting involved in research, being in genomic databases. And I think actually uh, Angela spoke about this. Angela George in early podcast talked about this as well. And Anwar, you just said, I mean, Language, language barriers, time to be told, time to understand, time to take it in and come back with questions.

[00:25:45] More than that, there is a mistrust of genetic testing and that is real and that is based on real, lived experience. and historical experiences of unethical research. And we have to think about that really carefully. And we need to engage with communities. We need to think about cultural awareness. And we also need wider than that. We need as well as the NHS, we need NICE to acknowledge how that population diversity relates to how we think about outcomes and health and disability. So what I'm talking about is if there is a new drug for heart failure and you have to have a certain genetic test, are you being offered that genetic test if you are from an ethnic minority group? If you live in poorer underserved areas of the UK and therefore, even though you're entitled to it, are you getting equitable access to the right health care that you should have? 

[00:26:48] Anwar Khan: Sophia, that's really helpful. And before I say a few more things, I'm just going to go back to 1988. I was in genetics in those days I was seeing a Pakistani couple. They were Punjabi origin. I've actually forgotten which recessive condition they had. They're two children of the same recessive condition without being counseled. And so I was explaining recessive inheritance to them, uh, by an interpreter and the interpreter didn't translate it. She said, Oh, it's God's will to which I look around because I can, I can speak Punjabi. And I looked around to her and I said, I did not say anything about God Will here. Please can you just translate? 

[00:27:30] So, so there are issues about culture. There are things about language. And the other thing that I've learnt in my uh, I used to be chair of North East London CCGs and Waltham Forest CCG, that if we want health initiatives going through, we need to go to where the community goes first. So, for example, mosques. And in fact, it's interesting, only a couple of days ago, I was speaking to the council in Waltham Forest, as to how we can actually look at addressing some of the genetic, genomic inequities going on and, and Gurdwaras, etc.

[00:28:01] But Eastern Europeans, apparently, the best way to contact them, uh, this was a study we did when I was chair, was in supermarkets. Posted it in, in the Eastern European supermarket. So we do need to, I think you're absolutely right, we also need to take our genomic message not only to the healthcare professionals that need to do it because their patients deserve the best care through genomic, but also to community leaders and, and debunk some of the myths around genomics, et cetera.

[00:28:29] Munir Adam: Everything that I'm hearing from both of you, what I'm sensing is that this is starting to influence my attitude towards these rare conditions and how I might discuss it when I encounter patients in towards a better direction. A lot of what you said isn't in the control of primary care. I think that's true as well. There are a lot of more much broader issues, but some of it is. And we may be the only person that these patients are coming to see, you know, they may, a lot of them are, you know, some of them are isolated, they're not interacting, even when they do, they don't discuss health in any shape or form.

[00:29:06] And in primary care, if we've got a can do, attitude towards this, then perhaps we're going to be in a stronger position and perhaps we need to try harder for those who are likely to lose out or maybe have preconceived ideas about, you know, to what to do with fate and uh, we might be in a better position in primary care to identify what the barriers are perhaps, 

Summary: Prevention is at the Heart of Primary Care 

[00:29:26] Claire Green: I couldn't agree more. I think, actually, everything that's been highlighted to me, to me, you know, over the last few episodes is just showing the importance we play, You know, those take home messages of, of making sure that we're making this a consideration, it's on our radar. 

[00:29:42] As Anwar keeps pointing out every time he's involved in the conversation. It's about those full family histories, getting that down on paper. There are basic skills and that's where we can really play a part in this whole process, really.

[00:29:55] Anwar, would you be happy to kind of put into summary the relevance of this topic for clinicians in primary care?

[00:30:03] Anwar Khan: Yeah, uh, yeah. Even though we're dealing with rare conditions in inverted commas, they have a significant impact on families and hence Everybody in primary care not just GPs. Everybody in primary care needs to be aware of it. We need to be inquisitive We need to have that professional curiosity think you know genomics and and Sophia's talked about the expansion of prenatal testing What's a wonderful world where we will be able to diagnose early, prevent long term complications and be more proactive. That's what primary care is about. It's proactive preventive care. 

[00:30:37] And we just touched on some of the EDI issues in genomic testing. And I think we do need to be mindful of that. The NHS was, uh, set up by an Aneurin Bevan, my hero, on equity of access, comprehensive care to all, and that comprehensive care includes genomics.

[00:30:57] Claire Green: Oh, I'm absolutely convinced. I don't know about you, Munir, but I think that, you know, Our patients can only benefit from our increased knowledge in this area, really. 

[00:31:06] Munir Adam: Yeah, well yeah, I, I've been proved wrong again, haven't I? 

[00:31:12] Claire Green: Sadly so. 

[00:31:13] Munir Adam: This is, yeah, I mean, this is, this is relevant stuff. I think it's a defensive mechanism I use sometimes, trying to deny something that we all need to know.

[00:31:22] But in a way, I'm glad that I've been exposed in that, because there's got to be other clinicians listening who are also likely to be in that trap. Well you guys have been listening, uh, patiently throughout these episodes and remain engaged and there has been a lot to take in over these last five episodes.

Summary and Future Topics: Pharmacogenetics

[00:31:40] Munir Adam: So next month what we're going to do is summarize everything that's been covered so far, key important take home messages, things that we think need to be emphasized or reiterated,

[00:31:50] Claire Green: I think we're also looking to cover some pharmacogenetics. Not entirely sure what that is. Would anyone wish to quickly highlight before we round up? 

[00:32:01] Munir Adam: Yeah, I don't know. What's pharmacogenetics then? 

[00:32:06] Claire Green: I hope one of you do know. We don't. 

[00:32:08] Sophia Varadkar: So, uh, I've kind of, alluded to this a few times. So pharmacogenomics is where we're actually looking at an individual person's genetic makeup that helps us to decide the right drug at the right dose for the right patient.

[00:32:31] Hopefully that whets your appetite for what's going to come in the future podcasts. 

[00:32:35] Munir Adam: It does and what a lovely way to summarize. In fact, I'm not going to spoil that summary by saying anything else. So listen guys, until next time keep well and keep safe.