Does Genomics Matter in Primary Care?
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[00:00:00] Munir Adam: I'm really excited about genomics, it decides everything about you there's going to be people out there who commit all sorts of crime and aggression, what about if we said that this is actually because of their genes to what extent are they responsible for that?
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[00:00:13] Munir Adam: What if you can change our genomic structure? Just imagine what we could do.
[00:00:17] If you can modify those genes, we could cure all the diseases in the world, we can make superhumans.
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[00:00:23] Anwar Khan: Rather than making superhumans, you can actually prevent ordinary humans having heart attacks.
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[00:00:28] Claire Green: Do you think it's applicable to others working within the practice in primary care?
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[00:00:33] Angela George: When you undertake genetic testing, the information that comes off the sequencer is just like an alphabet soup. And the problem is, when you get that jumble of alphabet soup, you string the letters together, but often that's wrong.
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[00:00:45] Angela George: I have actually had patients referred to me by breast surgeons who had been about to do bilateral mastectomies on patients on the basis of these results.
[00:00:52] the problem is you can't trust any of those results.
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[00:00:56] Munir Adam: it makes you think, is anything such a thing as free choice?
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[00:01:00] Munir Adam: Does Genomics matter or confuse you? Why would you care? I mean, Well, it's not like, you know, you're working in primary care and patients come along and say to you, look a doctor or nurse or PA, whatever you might be, and actually say, hey, I've come along and I've got a genomics condition.
[00:01:17] That doesn't really happen. So it's very easy to conclude that this is not relevant for us in primary care. But actually, I was listening to, and watching a webinar quite recently about, and an example was given about a patient. And after listening to that example, I realized that not only does it matter, but actually if we don't do the right thing, we can be responsible for excess mortality.
[00:01:42] A lot of more patients could be dying because we're not thinking about conditions that have relevance with genomics. And so I thought to myself, I think I'd like to learn about this.
[00:01:52] Welcome to Primary Care UK. It's Moynihan Adam here, and we're starting now a series on genomics, which is sponsored and co produced by the North Thames Genomic Medicine Service.
[00:02:06] And this episode, when we start this, we're going to be talking about the basics and why it's important for us to know about this, for all of us.
[00:02:14] Claire Green: I'm one of the paramedics in within the team. I'm also a trainee ACP and was kindly asked to join today. first thing that came to mind when, I was told the series was being made was really how it would link in, with my role as an allied health professional working in primary care, really, and my big lack of understanding around the
[00:02:34] Munir Adam: Now, I'm really excited about genomics, because I think it means so much. I mean, I don't remember that much about genetics and genomics, but don't these genes determine everything about us? Like, everything ranging from eye color to, skin complexion, to how tall we're going to be. And with all of these things being determined by, by this, that includes our brain as well, right? The formation of the brain. It's kind of this nature and nurture thing. So, this is, perhaps I refer to this as the nature part. You, you, you become what your genes make you. And then if we then combine that with nurture, so what we are, what we become, what decisions we take, what actions we take, these are also, determined by our upbringing. It seems like it's such a powerful, it, it's, it decides everything about you when you combine these two things. Because there's going to be people out there who commit, for example, all sorts of crime and aggression, but what about if we said that, to a large extent, this is actually because of their genes or their upbringing? So if it's to do with nature or nurture, then to what extent are they responsible for that?
[00:03:43] I think that's an interesting question, and, because everything about your brain is determined by your genes or your upbringing, and neither of those two factors are your decision, and, you know, it makes you think, is anything such as, such a thing as free choice? So it's very fascinating and very powerful, and then when you now think that what if you can actually modify those genes? What if you can change our genomic structure? Just imagine what we could do.
[00:04:11] If you can modify those genes, We could cure all the diseases in the world, we can make superhumans,
[00:04:18] Claire Green: mania. I'm not, I'm not entirely convinced we can make super humans potentially. We are jumping ahead of ourselves. I think, I think it would be perhaps more sensible to think about, of how we're going to relay this to, other healthcare professionals and also, generalized population about, you know, how important it is to primary care and thinking about the kind of multi-professional workforce and how it's all gonna fit into the NHS and thinking about sort of common terms and concepts and relevance to the wider team really.
[00:04:50] Munir Adam: oh, okay, so not superhumans then. Alright, well, well, we're learners, and that's what we're here to do, we're here to learn. Let's introduce the experts,
[00:05:01] Angela George: I'm Angela George, I'm the co medical director for the North Thames Genomic Medicine Service, and by background I'm an oncologist and oncogeneticist.
[00:05:10] Anwar Khan: I'm not an expert. I'm just a jobbing GP with an interest in a history, in genetics, and, and I'm not interested in, changing the human genome, but more being a better doctor by the application of advances in genomics.
[00:05:28] Munir Adam: And as always, Anwar, you're being very humble, and you certainly know a lot more about genomics than I do, but genomics is seen as being Something very complex sometimes. But genomics made easy? I mean, is that even possible?
[00:05:41] Anwar Khan: I'll say it from my perspective and then Angela can chip in with her expertise. there's been a lot of surveys done about, genetics and what it means to GPs. GPs often say it's tricky, it's a boring, dry subject, it's highly specialized. And in fact, many patients with genomic conditions like Huntington's, know more about their condition than the doctors do actually. it's an interesting challenge and many people say it's hard to explain. Well, it's only hard to explain because you've not tried it before.
[00:06:11] what we do know, whether or not GPs feel they need it, the GP registrars definitely need it because it's in their exam. So let's think of it from that perspective, first. I'll hand over to Angela, and then I'm sure there's other bits, everyday, GP work that where genomics is helpful.
[00:06:29] Angela George: Yeah, I mean I would say absolutely genomics can be made easy, and realistically genomics is just about using all of the information about the person. It's about using not just their age and the other comorbidities that you take into consideration every time you consider something, it's using their genetic makeup and how that's going to influence the drugs that you prescribe, or their outcome, or indeed whether or not they've actually got a condition in the first place.
[00:06:55] Munir Adam: Well, I'm listening. The audience is listening. Let's learn together.
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Why Is Genomics important for Primary Care?
[00:07:04] Munir Adam: So, Claire, I was thinking about the importance of genomics and how relevant it is to primary care, and So, you know, here's, here's a really good example of that. So you know, like when we have people coming along with urinary tract infections and we know exactly which antibiotic to give them because the lab can check for sensitivities.
[00:07:25] So now you get a 55 year old, you know, The gentleman comes along with back pain. They might be coming to see their first contact physiotherapist. They might be coming to see a PA, paramedic, GP, or whoever they're seeing. And they're coming along and they're saying, Oh, I've recently registered here and I've tried painkillers.
[00:07:43] Nothing's really helping my back pain. And maybe they're getting depressed with it as well, they want to try an antidepressant. And, you know, I'm sure we're familiar with this kind of scenario. And our heart sinks and we're thinking, how do we help them? Because we know that different things work for different people, and we don't know what's going to work for them.
[00:08:01] And so, we're learning genomics here, because what we do then is we send them to this, 3D computerized genomic analysis service where everything, you know, you can cure all of these problems because you can find out exactly what kind of physical manipulation is going to work for them. You can find out exactly which kind of medication is going to work for them.
[00:08:21] And so you can cure these illnesses. And even if you can't make them a superhuman, but you can at least cure the conditions.
[00:08:29] Claire Green: I'm not entirely convinced that's maybe the best scenario. I think perhaps we need something that's a little bit more realistic that we can kind of link in with day to day. I don't know.
[00:08:39] Munir Adam: well, things are moving very quickly, so, maybe, be able to do something like this. Well, that sounds more exciting, but all right, let me think of something. yeah, yeah, yeah, well, I'll tell you one example that is very, very relevant, I think, because I learned about this recently. I learned about familial hypercholesterolemia a very long time ago.
[00:08:58] But, you know, I've had patients come to me. I, in fact, I had somebody come along to me, and, They said to me that they want to have their cholesterol tested because they believe they might, you know, they just want to make sure that everything's fine, and they've managed to get a time off work on their holidays, and they'd like to have a full health checkup.
[00:09:15] And I sent them for blood tests, but I didn't check their cholesterol. I mean, this was a gentleman that was about 32, 33 years old, looked fit and well, didn't have any medical problems at all. But I didn't inquire further, ends up seeing another doctor who actually did a better job of this and asked about his family history.
[00:09:31] And it turns out that people in his family had been having heart attacks at a very young age, and sent him for a blood test, and the results showed that his cholesterol was actually very high. And I forgot about this example, but then when I was watching this webinar recently, this specific point was brought up, and I thought, Yep, I'm the goatee party here.
[00:09:53] Now, imagine he didn't see anybody else, and just went away and didn't get his cholesterol checked. It could be that the next time I become aware of him is when he's been admitted with a myocardial infarction. So it just makes you realize, doesn't it, that how important it is to have a bit of, have a bit of knowledge about these conditions, genetics, genomics, and so on.
[00:10:17] Anwar Khan: Muneer, can I chip in here? so you're absolutely right. And you know what, FH is one thing that GPs can take a lead on.
[00:10:25] in an ad which say, GP practice 10, 000, how many patients do you, think will have FH? Any, anybody? Claire? Muneer? Just have a guess.
[00:10:36] Munir Adam: Fifty?
[00:10:37] Anwar Khan: Actually not, not far off. 40.
[00:10:40] Munir Adam: Oh, okay.
[00:10:41] Anwar Khan: All right. So, if you just think about that, if you were able to cascade test and actually be aware of family history. You'll do a better job than any geneticist in, in, in, in a regional center. And I do think GPs have a role, particularly in place in things like familial hypercholesterolemia. We can think of, we'll talk about the conditions later on in our series, but FH, for example, it's, it's, it's autosomal dominant inheritance. It's got high penetration. It's autosomal dominant, 50 percent are going to be affected. And,
[00:11:19] there's a very good, module actually done by Steve Humphreys. I'm not addressing it because I was involved in it, but Steve particularly, did an excellent job. It's in the RCGP website. And Steve talked about a 10 year old with blocked arteries. It's such a rotten condition.
[00:11:36] And so can actually, rather than making superhumans, you can actually prevent ordinary humans having heart attacks.
[00:11:45] Munir Adam: no, absolutely fair point. Now, thankfully I do remember autosomal dominant. I don't remember that much more about genetics. But, Claire, , what's your background in terms of knowing or not having covered genetics?
[00:11:58] Claire Green: think
[00:11:58] we probably dipped our toe during our degree. I remember A at school, and are turning, but, it's been a long time and, it's really nice to kind of discuss it with relevance to what we would see day to day, so I'm quite reassured that actually I'm going to be learning quite a lot but it's it seeing its relevance to to my practice but I mean my experience is very low in comparison to those others in the room.
[00:12:28] Munir Adam: I'm, my situation, I'm probably a bit more embarrassed really because Claire, unlike you, I probably have had quite a lot of genetics training when I was at UCL doing my undergraduate.
[00:12:38] I really enjoyed it. I remember enjoying it and learning about, well, Mendelian genetics, for example. And then they started to talk about things like variable penetrance and so on. I think that's where I started to get a bit more confused. But, and I don't remember the word genomics coming up very often. I don't know if that's That's because it's a lot newer or perhaps, I don't know, but I've forgotten most of it.
[00:13:01] And I bet a lot of people listening to this are going to be thinking the same thing because we don't know whether it matters anymore in primary care and, and I suppose I'd like to ask that question again because perhaps that one example did make me think it is relevant, but maybe that was just one example.
[00:13:17] so maybe, as long as we know a bit about FH, then everything's fine and we don't need to know anything else. So, Angela, why are we talking about this, and why now?
[00:13:26] Angela George: I think we're talking about it now because there's almost no condition now where genomics isn't starting to play a role. And actually the first, the first example you gave about the person with the back pain and, and potentially whether or not you gave them an antidepressant and which one would work, we're actually not that far off being able to say, well, actually, if you do these tests pharmacogenomic profile the person has, rather than having to go through three or four different antidepressants before you find the one that works, you can say, actually, this person has this particular common variant in their genes, which means that this is the antidepressant that they're going to respond to.
[00:14:04] Or, you know, indeed, in your GP practice, I'm sure you have lots of people coming in saying, I want a blood test to see if I've got cancer. You know, this is part of things like the GRAIL program going ahead, looking for tiny fragments of tumor DNA in the blood for early detection of cancer. It's every woman who comes in wanting HRT, and you take a family history and see that there's cases of breast cancer. You know, it's getting to the point where it's almost everyone with cancer is having genomics define either their diagnosis or their prognosis or their treatment. So, it's, it's so many different things. It's cardiac, it's neurology, it's, you know, it's developmental disorders. Every single part of that now is being defined by genomics.
[00:14:50] Munir Adam: Gosh, okay. So, that really does help, because you know, there's, I've, I've often felt a bit of, A little bit let down by us, the position of statistics in, in an epidemiology and things in terms of what works and doesn't work with medical conditions because we tend to deal with individuals, but we tend to apply population rules onto them.
[00:15:15] So we might say you're going to start somebody on a statin and say, well, look, you've got a, I don't know, you've got an 80 percent chance that this will reduce your cholesterol by X, Y, Z, or it will benefit your reduce your Q risk or whatever. But actually. I don't think that's true. Not everybody's equal. So there'll be people who will always benefit, and there'll be other people who will never benefit. Now this is different from true statistics, where you're, say, throwing a dice. If you throw a normal dice, Then, if you throw it enough times, you will get the number six coming up sixth of the time. we're not a die, and well, some people won't respond ever . So, actually, a lot of the formulas that we come up with are not strictly true in that sense.
[00:15:58] Anwar Khan: actually, Monet, on that note, say, for example, the Framingham Index. That was based on a white, middle class US population.
[00:16:08] It makes a fat lot of use in the East End. And what Genomics is doing, And you know, the East London Gene Project is one that I've been involved in for many years, where they've been actually collecting data, genomic data, on South Asians. and actually getting much more bespoke, disease risk assessments. I mean, Angela, we're just talking about the, the BRCAs and, but there are various others, cardiovascular. And, and I think the problem with some of the statistical stuff, it's based on a normal population. Tell me a normal population in London, please. so I think genetic testing, as well as doing the personalized medicine, and we will be able to, as Angela says, work out, oh, this statin, or, you know, this person will have this problem with this statin, don't waste your money, give them Resuva or whatever it is, rather than start with Simba. but the genetic testing, can also complement the family history information. And I do think we need to become adept at taking family history. This is not a genetic problem. This is not for the genetic counselors. This is not for regional centers. This is for the high street surgery to be able to take an adequate family tree. And, and from that, you can actually make an assessment of which cases that you can actually do cascade testing, carrier testing, prenatal testing. And as we talked about for middle hypercholesterolemia, you can think about. risk reduction and prevention.
[00:17:40] So really the genie or the gene is out of the bottle now, okay, and there's lots of benefits but for us to realize it. We can't rely on specialists like Angela to be doing it because we see 90 percent of the population. We have a duty of care to our patients to be up to date and be educated by the likes of Angela and apply it to the everyday population.
[00:18:06] Munir Adam: Some really important points you made that Anwar. So yes, we do see 90 percent of people in primary care across the health professions working in primary care. I think we're seeing a lot more. We often don't give ourself credit for how much we actually manage. So if we can do something different, the impact is going to be very significant. Yeah, absolutely. Right.
[00:18:22] And also the point you make about the East end of London, And it's ironic really, isn't it? Because if you are going to confine yourself to doing the research on a specific group, then do it on the high risk groups. You know, you do the research on a lower risk group, and then apply the rules to a high risk group who's actually got excess mortality, and like South Asian population, for example.
[00:18:44] So, yes, very relevant stuff. And so people want to be treated as individuals. And I think that extends to being able to do genetic testing. So it's really fascinating to hear from Angela, from you, that you can actually, to some extent, you can already start to do this.
[00:18:58] fantastic. So I'm not going overly wild then with my imaginations of what's possible and what's not possible.
[00:19:05] Angela George: No, we're still very much within the bounds of reality there.
[00:19:08] Munir Adam: Great.
[00:19:09] Angela George: Apart from the superhuman. Yeah, we're, we are actually all mutants. So, yeah.
[00:19:14] Anwar Khan: So I, I didn't know if you've come across this Munir, patient, well, I certainly come across it. Patients come to me and go, do you know what? I've had this test from, well, I won't say which company, but there's a number of companies. And it says here that my, kids have a potential of a high risk of ADHD if we don't follow this diet, because I've had my genes tested.
[00:19:38] Munir Adam: I have to admit, it's the kind of case I don't really look forward to because I feel completely lost.
[00:19:44] Anwar Khan: Okay. So, one of the major issues are direct to consumer tests because, I get patients that are turning up and, and these are often accessed without discussion with the health professional. So they just turn up with the result without even asking that I'm going to go for it, you know, and they get all these weird and wonderful, I call it quackery,
[00:20:03] Munir Adam: I really don't look forward to those sorts of cases, to be honest. I just think to myself, what do I do here now? And I
[00:20:09] have often adopted a bit of a dismissive attitude towards that, if I'm going to be really honest, because it seems like people, there's nothing wrong with them and they're just making a fuss. but of course, I realize that very, may very well not be the case. and so behind, so hidden behind that is maybe ignorance about, about the aspects of genomics that perhaps they can be tested for. yeah, definitely relevant for GPs, all of this.
[00:20:37] Claire Green: I mean, sorry, I'm well, I'm just wondering if what your thoughts are around. Obviously, you're you're sort of GP background and your level of understanding is greater than my own. Do you think it's applicable to kind of allied health professionals, you know, others working within the within the practice in primary care?
Is Genomics relevant to ALL Primary Care Staff?
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[00:20:56] Anwar Khan: To be honest, you've hit on a subject that I'm very keen on saying, primary care is more than GPs, primary care is everybody. Everyone thinks of primary care being GPs, it's not. We're one cog of it. And we work together in a multi professional way. So when I say primary care, I mean paramedics, I mean nurses, I mean everybody on the front line has a duty of care to understand the implications of the advances in genomics and its pros and its cons.
[00:21:29] The adverse issues like direct to consumer testing for me is an adverse issue and maybe we could ask Angela how she would advise us to deal with that.
[00:21:40] Claire Green: That's great
[00:21:40] Anwar Khan: Yeah? Have you come across any direct to consumer testing issues before we ask Angela for her opinion?
[00:21:48] Claire Green: I'd, I'd say yes, but I think, owing to my lack of understanding around it, often it will be brought up when they come in for another condition or another concern and then they'll say, actually, I've, I've been away and done something for myself or my child and these results will come back and we'd like to discuss them with you and I will say, Look, this is probably beyond my remit, so I will openly say, and, and, and just perhaps, you know, Suggest that we book a telephone call or a further appointment with the gp, but I'd love to have a better understanding to be able to discuss this with patients and know the relevance and understand how it applies to them and, and further referral testing considerations. and, and have that option available to me.
[00:22:34] Anwar Khan: And what I would like, Clare, is not for you to book in with the GP because that's duplication of appointment. for you to be able to do all that's what I want to happen. So, angela, you're the expert in the midst. Any
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Off-the-shelf Genetic tests: Beware!
[00:22:51] Angela George: Yeah, I mean, direct to consumer testing is a huge minefield. I mean, there are lots of so there's a firstly there's a huge variety. There are a few well recognized as well accredited labs that people can sort of right away for a kit and have a proper test done. And those are not the ones we worry about because if that that person is found to have a gene alteration from one of those types of places, then it will be genuine.
[00:23:16] It will be well research and they should have had some sort of discussion with someone before that test was undertaken. So, so those are the, those are the sort of better ones. But unfortunately, most of what I suspect is coming into you are the ones where someone sort of wanders into a high street pharmacy, buys a kit off the shelf, which is not designed to, to sort of report on actual proper health issues.
[00:23:43] It's designed to tell you, will asparagus make your urine smell? And would you be able to smell cyanide if you came across it type of thing? but the, the reality is that after you've had that kind of testing done, there are third party companies who will offer to reanalyze your genetic information for a fee. and provide patients with a long list of potential conditions that they may have based on what their assessment is of their re analysis of the data.
[00:24:12] But, but here's where the problem starts to come in because over 40 percent of what that third party analysis suggests is there is, is complete and utter fabrication, and not with the paper it's printed on. And the reason for that is that when you undertake genetic testing for things like this, the information that comes off the sequencer is just like an alphabet soup. It's just a jumble of, of letters. And it's then up to some form of program to put those letters in order to form the genes so that you can analyze them.
[00:24:44] And the problem is, when you get that jumble of alphabet soup, if you haven't done it, you don't know where the starting point of that is. So you make assumptions as to where the starting point of that alphabet soup is, and then you string the letters together, but often that's wrong.
[00:24:58] So we get a lot of worried well patients being referred to us with these third party reports, which are quite frankly not worth the paper they're printed on, but some of them will say that people have very high risk gene alterations, you know, alterations in BRCA, sort of 70 percent risk of breast cancer and so forth. And I have actually had patients referred to me by breast surgeons who had been about to do bilateral mastectomies on patients on the basis of these results.
[00:25:24] And when, you know, when we've actually had them tested, those results are false. They don't carry the gene alterations. So, so actually I think the problem is you can't trust any of those results. They can't be used clinical management.
[00:25:40] And the most important thing is, under the current NHS rules, if you refer them to a genetics team, unless that person is already eligible for an NHS funded genetics test, we can't do anything with those results. We can't test them see whether or not they're accurate.
[00:25:55] So then the patient, if, if they're not already eligible in the NHS, they then have to choose whether they privately pay to, to see whether or not they're eligible. This, this report is, is correct or not before that can be even considered as part of their health record.
[00:26:12] Anwar Khan: The thing I learned to, a couple of things. In fact, it's my son who's doing a master's in genomic. That's what is all rekindled for me. One was variations of uncertain significance, VUSs. And, and the second thing was, polygenic risk scores, rarely are able to predict disease, can only stratify, and that's where the confusion is, isn't it, with some of the reports.
[00:26:37] Angela George: Absolutely. I mean, variants of uncertain significance are common. Every, every single person has variation in every gene. It's just what makes us all slightly different to one another. And most variants and most genes will never cause disease or other problems. But, and most of the time when we see a variant, we can tell whether it's going to cause a disease or not based on the type of variant it is and where it appears in the genes and whether or not it's been seen before and so forth.
[00:27:05] But particularly if you're testing genes that haven't been. widely tested before, or, and this is where it really starts to come into, into, issues in places like London. If you're testing someone who is not of white European ancestry, then the chances that you'll find a variant of uncertain significant in any gene they're tested in goes up hugely.
[00:27:27] And that's because if you look at all of the data that's in the international genomics databases. Over 97 percent of that is from people of white European ancestry. And most variants are ethnicity specific. Some of them are geographically specific. So as soon as you test someone outside of what's in the genomic databases, you start to get lots of variants of uncertain significance. And most of those will be nothing. Most of those will actually be common variation, but they tend to cause a lot of distress to people and induce anxiety.
[00:28:01] And then the other issue that we can sort of come across, as you say Anwar, is the polygenic risk score. And these are, this is really looking at how you stratify the population. This is like you were saying about statistics before, Minia. You know, if you look at things like statins and you look at cardiovascular risk across a population, you'll have your really high risk population. people at one end, you'll have your really low risk people at the other end, and then you'll have the majority of the population somewhere in between those two extremes.
[00:28:31] Polygenic risk score is, is the idea that you can look at someone's genomic fingerprint and look at all of these common variants that you may inherit from a parent, which individually change your risk by a tiny amount, you know, 1. 2 times the normal risk of something. But if you happen to inherit 20 or 30 of those from your parents that all slightly increase your risk, they all multiply together to give you quite a significant increased risk. And so polygenic risk score is the idea that you can look at something like heart disease or stroke risk or breast cancer risk, test these particular variants, and then come up with a profile and say this person's in the top 10 percent, so actually maybe they should be having mammograms every year from 40 rather than every three years from 50. Or this person, you know, has a particularly high risk of bowel cancer, so actually maybe they should be getting early colonoscopies.
[00:29:28] And of course, all of these are just baselines and you still have people's behavior. So it doesn't matter if you inherit a really low baseline risk of heart disease. If you smoke 60 cigarettes a day, and you have a terrible diet, and you don't do any exercise, and you're obese, you're still going to have a high risk, no matter what your polygenic risk score was.
[00:29:49] It's just that you're starting from a lower baseline, and you might have a few more years before you have your heart attack based on your lifestyle factors, compared to someone else who inherits a really high level, but does all the right things, goes on the medications early, controls their blood pressure exercises regularly, keeps a low weight, never smokes.
[00:30:08] So the problem with things like polygenic risk score is it's about a, it's about a baseline and you still have all the environmental factors in people's behavior which influence that. So of the concerns with those, of course, is that you might have people who go, Oh, look, I've got a really low risk of diabetes.
[00:30:24] Therefore, I can eat as much sugar as I like it's not going, I'm still not going to get diabetes. That's not true. These are, these are all things that interact together.
[00:30:33] This raises a lot of, the issues about how complicated it can be to make decisions about whether testing is actually even the right thing to do, isn't it? Because sometimes the false sense of security and allowing somebody to be responsible in terms of their lifestyle choices, as you say, Angela. And, you know, I remember learning in epidemiology the importance of determining whether a screening program is appropriate or not.
[00:30:55] Munir Adam: And the screening programs that we have in the UK are very much. Researched very carefully aren't they like cervical cancer screening for example and prostate cancer screening and so on and yet you can just go along and companies can go ahead and just test anybody for their genes without there ever having been such a rigorous program.
Genomics vs Genetics
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[00:31:15] Munir Adam: But look i'd like to move on and because this is already getting very fascinated and we're already beginning to realize about some of the complexities and what we'll do in the next session is we're going to take a step back and start to introduce some of the basic concepts and get a real firm grounding starting from sort of zero knowledge and then building upwards. but could I just ask one of you to just explain the difference between, genomics and genetics?
[00:31:44] Angela George: maybe, shall I take that one,
[00:31:46] Anwar Khan: Yes, please do. Yeah.
[00:31:48] Angela George: I think traditionally what people learnt in their, in their sort of university courses and things like that was what we think today of as probably clinical genetics, which is about inherited conditions that you get from a parent and you can pass on to your children.
[00:32:05] And that's really what genetics has been for a long time. I think these days there are wider aspects of genetics and looking at things like tumor based testing, for example, in cancer, pharmacogenomics, which is looking at drug prescription. So people tend to use the term genetics to think about inherited conditions and genomics to think about an old term that has everything that's to do with genes, whether it's the person's genes or something slightly different like cancer genes or, something that's not directly inherited.
[00:32:40] Anwar Khan: Yeah. So, so my take on it is that genetics is really just about how it's passed from one generation to the other, whereas genomics is how genes interact with each other and the environment, but then leads to what Angela talks about new therapies and new ways of diagnosis. So it's the application of the science of genetics.
[00:33:02] Munir Adam: So would you say that genomics is a part of genetics, or is genetics a part of genomics, or are they both sitting side by side?
[00:33:11] think I would say genetics is a part of genomics, probably, and genomics is the sort of the, the, the more of the umbrella, description we give to everything associated.
[00:33:22] Got that, okay. So, well that's all sounding really exciting, and we'll continue
[00:33:28] discussing all these different things and their relevance, because you've already, one really important thing I'm taking away from this is the relevance of all of this. Which I didn't know about before, but with the examples you've given. I just want to ask you then, so this is the North Thames Genomic Medicine Service, a bit of a mouthful, but can you just say a little bit about that? Then obviously, so you're not manufacturing superhumans there, what goes on over there and what is it? Okay,
[00:33:56] Angela George: of two components, and I should say there are seven of these across England, so, so we're, we're North Thames, but there is one, for example, that covers the Northwest, the Birmingham, Oxford, so forth. But we cover North Thames and we have the Genomic Laboratory Hub, or the GLH, which is where we do the actual testing. So this is where people send in samples.
[00:34:17] And then we have the Genomic Medicine Service Association, which is where we take more of a role of education. and research. So the two sort of work together to cover all aspects of genomics for our population.
[00:34:31] Munir Adam: and finally, So if it's our our genomic structure that determines everything about us plus environmental factors like our upbringing, then is there such a thing as free will? Angela, what would you say?
Is There Free Will?
[00:34:50] Angela George: Yeah, absolutely. I think there's such a thing as free will. I always think of things like your genetics and the, your sort of home environment and things. Those are the cards that you, that you're dealt. But how you play them is up to you. How you then influence that, or the lifestyle factors that you make later on, those will all have an impact. So absolutely, I think there is such a thing as free will.
[00:35:13] Anwar Khan: just added to that, as a, as a practitioner, you have a job, a duty to help the patient play those cards correctly. So, for example, if you see somebody with one or more major malformations, three or more pregnancy losses, medical problems of children, in, in, in consanguineous patients, disease in the absence of risk factors, or even after preventative measures, ethnic predispositions, like for example, Ashkenazi Jews, et cetera, or earlier than average onset of say a bowel cancer.
[00:35:49] If you've got any of those think genomics, cause you have a duty to say, do you know what, this is a card we're going to play earlier. So I do think this is where, and I like Angela's thing of playing the cards. But we can be part of that card game as well. Let's not say genomics is dry. It's academic. It's actually very practical and quite a significant part of your primary care work is a condition that may not be Mendelian thing like hemochromatosis. It may well be multifactorial like diabetes. Thank
[00:36:23] Angela George: And actually, it's up to you whether you look at the cards and know what they are, or whether you play blindly. And we all know that you'll have a better outcome in general from your hand of cards if you know what the cards are in your hand, than if you just randomly put them down.
[00:36:36] Claire Green: Absolutely. Everyone's got free will and like echoing what Angela said, you can't always alter the cards that you're dealt with in life, but certainly Anwar hit the nail on the head, really. We're in a privileged position to be able to educate and counsel these patients and these people. to understand the implications of, of these situations and, and, you know, doing nothing, not making any kind of lifestyle changes, thinking about how that could impact their future health would be negligent on our part.
[00:37:06] Munir Adam: Okay, there we are then. So no flogging off that responsibility then. you know, I thought I could blame my genes. Oh well. Well, we do hope to exercise that free will as we continue producing this series. Thank you, Angela. Thank you, Anwar.
[00:37:19] Anwar Khan: you for having us.
[00:37:20] Angela George: Thank you. Thank you.
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[00:37:24] Claire Green: We very much hope you've, enjoyed listening today. I can't thank, Angela and Anmar enough really for their insight into this, into this topic. And, and you know, what I've learned is that actually it really isn't a dry topic. I was really nervous coming into this, but actually I can understand that it's got really real applications to kind of practice.
[00:37:44] thinking about what Angela said, that it gives a kind of wider perspective really to looking at the whole person and thinking about, you know. How someone's genetic makeup can impact things such as drug choices and, and, outcomes and whether people have even got a condition in the first place.
[00:38:03] So, so certainly I've taken a lot from it. So I think it's really important to say that if anyone's got any feedback, want to give us a rating or any comments that that's available on Apple and Spotify and also, our website, primarycareuk. org, that's got an option to sort of leave some feedback and some comments and any, any potential questions you may have for us to put to the team next time. certainly please do so and we'll do our best to, to involve it in the upcoming series. Also the importance of duty of care, as Anwar said. obviously being up to date, being educated for our population is vitally important and understanding the kind of pros and cons of genetic, genetic testing and genomics and, and thinking about, you know, the kind of direct to consumer testing that we've discussed and how we're going to deal with that day to day as it comes to us really, and not having to pass the buck.
[00:38:57] Munir Adam: Absolutely. so we'll cover a lot of these things as, Claire said, and we'd love to hear from you, your thoughts as well. Again, primarycareuk. org is the website and we're on LinkedIn as well, where you can follow Primary Care UK. And links for all of this is, are provided as always in the show notes.
[00:39:14] In our next episode, we're going to be continuing, this discussion starting with the basics. We're going to take a step back and start covering some of the basic terms and concepts in genetics, genomics, and genes. And we hope to see you then. If this episode was about awareness, then from the next episode, we're on to implementation, what each of us can do from tomorrow, so to speak. So, I'm excited about that. I feel more empowered in terms of genomics. And perhaps my heart won't sink the next time somebody comes along with this. So, Keep well and keep safe.
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