Hey, have you joined YOUR go-to place for primary care on LinkedIn: PRIMARY CARE COMMUNITY: SHARE YOUR ATTITUDE?
July 15, 2024

Early Diagnosis and Treatment: The Role of Genomics in Cancer Care

Send us a Text Message.

THIS EPISODE:  Do you agree there is more that needs doing to detect cancer early, and to treat optimally? 

This is episode 4 of the 6-part Genomics mini-series, and looks at:

  • Cancer and the role of Primary Care in early diagnosis/detection
  • Using Breast cancer & Lung cancer genomics as examples
  • Highlighting what you, the primary care clinician can do
  • How genomics helps, not only for diagnosis, but in several other ways.

If you work in primary care and patients consult you, and you want cancer diagnosis and survival to improve, you should listen to this episode.

SPECIAL THANKS to our guest speakers: 

Dr Angela George, North Thames Genomic Medicine Service Co-Medical Director, and Consultant Medical Oncologist and Consultant in Oncogenetics at the Royal Marsden Hospital.

Dania Shoeb, GP Partner with a special interest in Genomics.

SPONSOR:  The Genomics mini-series was sponsored by, and co-produced with the North Thames Genomics Medicine Service

USEFUL LINKS:

  • North Thames Genomic Medicine Service – CLICK HERE
  • The Royal Marsden NHS Foundation Trust Patient information library - Implications of alterations in BRCA1 and BRCA2 –  CLICK HERE
  • The NHS Jewish BRCA Testing Programme - Link correct at the time of publication CLICK HERE
  • The NHS Genomics Education Programme  - Family History  – CLICK HERE

 

transition sound, 3 messages, end music, disclaimer.

JOIN THE PRIMARY CARE COMMUNITY! bit.ly/4dHGtP4

RATE US & comment on Apple podcasts/ Spotify (our humble request).

CONTRIBUTE: To sponsor or contribute, do visit our website: www.primarycareuk.org

DISCLAIMER: This podcast is aimed at specified categories of clinical staff working in the UK, and the content provided is both time and location specific. The aim is to ensure information is accurate, up-to-date and comprehensive, but this is not guaranteed. Hosts, other contributors, and the organisations they represent do not accept liability for any actions, consequences or effects that result, directly or indirectly from the information provided.

Specifically, this podcast is NOT intended for use by the general public or patients and must not be used as a substitute for seeking appropriate medical or any other advice. Views expressed are the opinion of the speakers, is general advice only and should not be used as a substitute for seeking advice from a specialist. Healthcare professionals accessing information must use their own professional judgement, and accept full responsibility when interpreting the information and deciding how best to apply it, whether for the treatment of patients, or for other purposes.

(C)Therapeutic Reflections Limited.

Chapters

00:00 - Introduction to Episode Four

01:06 - The Role of Genomics in Cancer

01:41 - Significance of Genomics & Mindset

04:34 - Introductions: Angela and Danya

06:26 - Case Study: Early Detection of Breast Cancer

07:17 - Genetic Testing and Family History

15:48 - Not for the Under-18s

19:20 - Challenges with Direct-to-Consumer Tests

21:44 - Impact of Genomics on Cancer Treatment

25:10 - Lung Cancer in Non-Smokers: Personalised Care

32:41 - Conclusion and Next Episode Preview

Transcript

E43 Full Aud

THIS TRANSCRIPT WAS AI-GENERATED AND WILL CONTAIN ERRORS!

Introduction to Episode Four

[00:00:00] Munir Adam: Welcome back to Primary Care UK. It's Munir Adam here. And this is episode four of our genomic series sponsored by the North Thames Genomic Medicine Service. 

[00:00:15] Claire: Hi, it's Claire, another one of the Primary Care UK team, back again with Munir for episode four.

The Role of Genomics in Cancer

[00:00:23] Claire: Today's episode, we're going to have a little look at the important roles that genomics play in cancer and focusing on the role that primary care can play in, in early diagnosis.

[00:00:34] Um, and also having a good think about how we're going to empower clinicians to have the confidence to have these conversations with their patients and also to use breast cancer and lung cancer as examples that primary care can readily relate to.

[00:00:46] 

Significance of Genomics & Mindset

[00:00:58] Munir Adam: I, I find genomics really interesting and the mindset that there are things that fascinate me about it.

[00:01:03] And one of it is when I'm having conversations with people about genomics and there's these dichotomies that come up. For example, on the one hand, a lot of clinicians find that genomics is very complex, difficult to really understand what's going on. It's seen as something for the experts to be doing.

[00:01:20] And yet on the other hand, so far in the episodes, one thing I've learned is that , what the specialists are asking primary care to do. It's not complicated at all. It's common sense stuff. Sometimes that intervention can literally save a life, right? That's the thing.

[00:01:35] And then on the other hand, I certainly saw genomics as being very niche, being all about these very rare genetic syndromes. That's what we imagine when we think about genomics. And yet, if we think about the last episode and this one, we're dealing with, you know, if I were to ask you, what are the commonest killers?

[00:01:54] In this country that were number one is is going to be you know, atherosclerosis related conditions like ischemic heart disease And what did we cover in genomics? We covered cholesterol and today we're talking about cancer. That's number two That's the number second commonest killers So actually if that doesn't convince us that genomics and genetics is about common stuff, then what will?

[00:02:14] I, I come with a view of the incredible potential, like genomics, how it determines everything, like how. Important and impactful it is about not just our eye color or our skin color and the level amount of cholesterol in your body, the way you act, your personality.

[00:02:30] It's a massively influential, but then you have the other side of people who say to me, things like. Well, yeah, but you know, you've got the genes that you've got, right? You might say it does all of these things, but you can't change your genes. And so how is that helpful? I mean, you know, you are what you are.

[00:02:47] I hate this phrase, by the way. It's such a common phrase. Now you are what you are, or it is what it is. That's, that's how it's often expressed, isn't it? It is what it is, which, which is a really logically, of course, it is what it is. But I think what people are implying there. Is that you can't change it.

[00:03:03] You can't do anything about it. And I'm hoping that it's not necessarily positioned. So, here's the question. Why, or how, would knowing someone's genomics Help as far as cancer is concerned. Three, two, one, zero. Now if you had the answers immediately at at the tip of your tongue, these are the reasons why it's going to help. Fantastic. We'll call you in as a guest for the next episode if you're available, please. 

[00:03:31] But if you're like me and the best response you could produce is something like, Well, it probably improves survival, doesn't it? Without really knowing exactly what you need to do to make that happen. then, uh, yeah, you're in the right place and, and that's me, right?

[00:03:46] So I, that's what I want to find out. I don't know the answer, but I've got with me the experts who do. 

Introductions: Angela and Danya

[00:03:51] Munir Adam: And Angelia, it's great to have you back. You were in the first episode, uh, but that was a few months ago. So if you wouldn't mind first introducing yourself and then Zania. 

[00:03:59] Angela: Indeed. I'm Angela George. I'm the medical oncologist and consultant on co genetics at the Royal Marsden, and I'm the co medical director for the North Ten's Genomic Medicine Service.

[00:04:10] Dania: Hi, I'm Danya. I am a GP partner in Redbridge at the Willows Medical Practice. I have a background of teaching, training, and education. I really liked what Muneer said in the beginning that it's now, it's, it's now the common things. What are we to do? So why is genomics important to primary care? Primary care is the first contact for our patients. So it's imperative that we keep up to date with this field of medicine so that we ensure we can deliver the best care for our patients. 

[00:04:44] Munir Adam: Couldn't agree more. That's great. Well, thanks both of you for being here with us. 

[00:04:48] Claire: Absolutely. I mean, usually I have quite a list of questions for the experts. But thinking about genomics and cancer I think it'd be great just to sort of hear what the experts have to say.

[00:05:01] Dania: So basically, it's easier sometimes to understand when there is an example or something that we have seen, something that see, we see sticks to us. So we can discuss about some cases we've seen, something that's there, things that we think that we have made a difference in primary care and how did that happen?

[00:05:25] Munir Adam: That sounds fantastic. But you know, cancer is a really important area and is it okay if I just, Interrupt if there's anything doesn't make sense. I don't want to pretend I understand if I don't because you you know I might get tested on this afterwards. 

[00:05:38] Angela: Yeah Absolutely. 

[00:05:40] Munir Adam: So yeah, what do we need to know?

Case Study: Early Detection of Breast Cancer

[00:05:43] Dania: So in my clinic, I was seeing a patient who was very happy that Her breast cancer was cured and how grateful she was that I We picked it up early. We managed to help her and she is enjoying her life. 

[00:06:03] Munir Adam: Sounds fantastic. 

[00:06:04] Dania: And feels things are going really well for her. 

[00:06:07] Munir Adam: But it doesn't always, it's not always a happy ending is it?

[00:06:09] We hear about cancer getting worse and not everybody makes it. You know, what, what made this work? What was the secret to getting it right this time round? 

[00:06:18] Angela: I think maybe it's best if we, if we start from the beginning and go through this step by step so we can see all of the different points at which genomics can make a difference to this patient having a really good outcome.

[00:06:30] Munir Adam: Okay. 

[00:06:31] Dania: Thank you, Angela. I think that would help put things into perspective. 

Genetic Testing and Family History

[00:06:34] Dania: So this was a 46 year old patient we can call it her patient X, who has been visiting the GP the third time because she just felt that her breasts were getting lumpier. And uh, she wasn't in any pain or any discomfort but she was just very worried. 

[00:06:55] She Then came to see myself, and putting my genomics hat on, and just thinking about it, just gave an extra two minutes to the family history, where she explained that she was from a Jewish ancestry, and she had, she was BRCA positive in the family.

[00:07:18] There were two relatives that were BRCA positive. And she was quite worried that Did she carry the gene? At that point in time, I'd up skilled myself and did the family tree, and usefully utilized the modules from the genomics, and did the screening and things, and found her to be eligible. did the referral myself. Contacted my colleagues at secondary care who then got her fast tracked, was seen under the two week wait pathway, and she had quite a good outcome, as we can see. 

[00:07:57] Munir Adam: So can I just go one step back then? So you mentioned that she was illegible. How do you determine that? 

[00:08:02] Dania: So, so basically we determined that via the two week wait pathway that GPs have, and also when we did her Um, her family tree, when we drew out the family tree and she had given a very specific family history of two relatives being positive for the BRCA gene, that made her fit the criteria and that got her to be seen quicker and hence she had a better outcome.

[00:08:32] Angela: So, uh, can I just clarify a couple of points, Dania? So you mentioned she was eligible for the two week pathway. So that's the suspected cancer pathway that you're talking about there. Yes. So from what you're saying, your level of suspicion that her lumpy breasts might be something to be concerned about was on the, was not because she was old or because there was anything you found specifically on examination, but it was specifically knowing that there was a family history and therefore she had a high risk of carrying an underlying gene alteration that would then give her a really high risk of, uh, of cancer for the future.

[00:09:10] Dania: Yes. Yes. 

[00:09:11] Angela: Great. And was there anything else about her specifically or medications or anything that you were worried about that might increase her risk as well? 

[00:09:21] Dania: So she was very worried when she came in because apart from the family history of the BRCA gene, she was also, at that time, was having perimenopausal symptoms and she had taken some HRT for the past six months or so and she was very worried that would that increase her risks of getting breast cancer?

[00:09:46] So, I had a really, really worried patient a year ago. 

[00:09:51] Claire: Can I just ask, would that, would that be highlighted? Obviously, I don't really deal a lot with women's health yet, within my scope of practice, but, when you're sort of perimenopausal or having menopausal symptoms, would that come into a consideration as part of your screening to start them on HRT?

[00:10:07] Dania: So it would, it would come into our part of our consideration when you start them on HRT, yes. Okay, thank you. But at the time, she hadn't reported a lumpy breast, so she was really worried that has HRT brought up an underlying condition. 

[00:10:24] Claire: But also, that also highlights how much importance, you know, through all the episodes has been made about that critical family history.

[00:10:31] For everything, it's the 

[00:10:32] Munir Adam: key. Hmm. 

[00:10:33] Angela: Yeah, and Clare, this is a really common reason that we're seeing for referral in our genetics clinics now because, you know, there's been a massive increase in women wanting HRT for menopausal symptoms, or perimenopausal symptoms. And the British Menopause Society guidelines, you know, do state that if people have a significant family history, then then they should be considered for whether or not they may carry an underlying gene alteration because actually a number of the genes that can cause breast cancer predominantly cause estrogen receptor positive breast cancer, not all of them.

[00:11:09] And then of course, if you give someone who has an increased risk of estrogen receptor positive breast cancer estrogen, then you are potentially increasing their risk further. So it is a really important consideration. 

[00:11:21] Munir Adam: And one thing I'm taking away from this, I just want to clarify this point first. So she didn't actually have a specific breast lump per se. She generally had lumpy breasts, I think you said, but not a breast lump as such. 

[00:11:35] Angela: That's really important because we often reassure ourselves. By examining the breasts and finding that they're normal, in many cases the woman will say, well, I always have lumpy breasts anyway. And so you disregard that.

[00:11:47] And I think this really highlights one of those things about knowing whether or not someone is at risk of carrying an underlying gene alteration. It's about your level of suspicion when you approach the person, because your average. you know, 40 something year old woman, a lot of them have lumpy breasts and most of them will be nothing.

[00:12:05] But if you know that they have, for example, a 70 percent lifetime risk of getting breast cancer, you are going to have that extra level of suspicion when you're speaking to them and when you're assessing them. And you know, that may be that thing that pushes you to, to the point of making that two week referral.

[00:12:24] Dania: Uh, I think it was a learning point for us at the practice as well, because this was this patient's third visit. at which she was referred 

[00:12:34] Angela: I think that's something that we hear about quite a lot that often patients are seeing a GP multiple times, you know, before they are referred on for secondary care. And that's particularly true for young patients.

[00:12:50] And we know that, for example, people who have inherited gene syndromes are much more likely to get those cancer diagnoses at a much younger stage. And so younger patients. It's often up to five visits to a GP before they get referred on for for further investigations. And the same is true for for patients who come from a non white background, where again we tend to see them attending more frequently before they're referred on for for further investigations for potential cancer.

[00:13:18] Munir Adam: Why, why is, why is that? 

[00:13:19] Angela: Um, well, I think the young person one is about because most people think of cancer as being something that occurs with older people. So if you have someone who's 60 who comes to you with a breast lump, then you are going to start off, in general, with a higher level of suspicion than if someone who's 30 comes through the door and says, I'm worried about a breast lump.

[00:13:41] And so again, I think it's about that level of, of expectation or that prior understanding of what the risk is for that person that this might be a malignant condition. 

[00:13:54] Munir Adam: Well, so, so far what I'm hearing loud and clear is, well, obviously with cancer, it's always about get the, um, early and not the third presentation.

[00:14:03] If it can be suspected on the first presentation, that may save time. The converse could have been true. It could have been the fifth or sixth presentation. If maybe if she wasn't fortunate enough to see a GP with a special interest in genomics, or shall we say some, a GP who hasn't heard this podcast.

[00:14:20] See how important these are, and you can make, so that did the, so that, that was a really important way of getting the diagnosis early. 

[00:14:27] Angela: So, so just picking up on your other point, um, Dania, As you said, she's eligible for genetic testing because there is a known mutation in her family.

[00:14:38] And actually, she's also told you she's of Jewish background. And there's also a separate program going on now, which offers genetic testing for anyone who is of Jewish background. Uh, background called the Jewish BRCA program. But if you have someone in your clinic who tells you that there is a known mutation in the family, they are immediately eligible for referral to be tested for that mutation to see whether or not they've inherited it as well.

Not for the Under-18s

[00:15:05] Dania: So it gets more interesting now that when she comes and sees me in my clinic she's very happy with her outcome, very proud, very happy saying to all her friends, Oh, please go and see Dr. Shoaib because she listens to you. She does everything. And now she's got two daughters aged 12 and 14. She wants them tested as well.

[00:15:28] So that then puts Dr. Shoei back on her toes and thinking, what do I do? 

[00:15:35] Munir Adam: What do you do? Tell us. 

[00:15:36] Dania: Yeah. Angela, what do I do then? 

[00:15:42] Angela: Great. Okay. Yep. So if you do your phone a friend thing which is what happens to me all the time then I would usually say to people that when it comes to, uh, testing children, it's about consent and it's about risk.

[00:15:56] So, for example, someone who has a BRCA mutation is not going to have an increased cancer risk at 12 or 14 years of age. And at that age, they are not legally able to consent themselves to undergo the testing. So for these types of scenarios where we have an adult onset condition, we would usually recommend waiting until they're at least 18 for them to make the decision themselves about whether or not they want to undergo testing.

[00:16:26] Because things like breast cancer screening, would start between the ages of 25 and 30. So we've got a long time ahead of us before they need to be tested. And because, you know, you'll all be aware that there are, there's a really wide range of personality types and maturity. And I've seen sort of 14 year olds who are Very mature, and I've seen others who sleep with stuffed animals every night, and the same is true of sort of 18 and and older people.

[00:16:56] So it's also about making sure that you're not just causing stress to people when they are not of an age where you're going to be able to do anything about this, whether mutation. So 18. 

[00:17:12] Dania: Thank you so much. So then she goes out of my clinic and buys some tests over the counter. This time she's not happy with Dr. Shoaib because I, I didn't do anything. I, I gave her the phone a friend response. So she, and the tests have come back inconclusive, which is already heightened anxiety in a patient who survived, really happy with her life and is worried about her children. So, she's heard about all the media about the J BRCA program.

[00:17:46] Is she eligible to go to the J BRCA program for her children? Or is there any way that she can speak to someone about some, um, Counseling. 

[00:17:57] Angela: So I presume, so just coming back a step, Dania, I presume this lady has had testing herself as part of her breast cancer workup and she has been found to carry the BRCA mutation, either BRCA1 or BRCA2.

[00:18:11] So she should, as part of that, have had a meeting with a genetics person, so either a genetics a genetic counselor or a genetic consultant who has explained to her that each of her daughters has a 50 50 chance and that when they are at least 18 they will be able to be offered testing but they would not be offered testing below that age.

[00:18:36] Dania: Thank you. 

Challenges with Direct-to-Consumer Tests

[00:18:37] Dania: And as GPs we get, a lot of things come out with direct consumer testing, when patients go and have these tests, when they buy these tests, and 

[00:18:50] Munir Adam: Oh yeah, that's what I dread. 

[00:18:53] Dania: Yes, and they bring in these multiple sheets, which I can't read, my phonophrene colleagues can't. How do all of you manage those situations then?

[00:19:04] Mm 

[00:19:05] Angela: Uh, well I can tell you how we manage them in the genetics department, which is that most of them aren't worth the paper that they're printed on. The, they're, depending on which company they've used, most of the direct to consumer ones are only able to read out two or three different specific mutations.

[00:19:24] They don't provide full genomic testing. And they, most of the people then pay a third party to reanalyze the data and come up with a list of stuff, most of which doesn't, most of which is probably not there. And the NHS has a position statement on this, which says that if a patient turns up in your clinic with a piece of paper from one of these.

[00:19:48] Non registered, non accredited, uh, direct to consumer tests. And this suggests that they have a mutation. They are only eligible to have confirmatory testing in the NHS if they would already be eligible for testing within the NHS. So, for example, with your patient, there was already a known mutation in her family, so she was already eligible for confirmatory testing.

[00:20:12] But if the first time that she'd turned up, there was with one of these direct to consumer tests, there wasn't a family history, and she wasn't otherwise eligible for testing. She cannot have a free test in the NHS, and she would then have to choose whether or not she self pays for what is considered to be accredited laboratory testing.

[00:20:32] Munir Adam: That's very helpful to know, actually, because what might otherwise happen is that you will get patients genuinely worried who will just go down to, you know, to the guy down the alleyway who's offering this. you know, for a pound a bowl of tests and, uh, uh, get, get there and think that they've got the license to then have the proper testing done, but that's not, that's not going to happen.

[00:20:52] Angela: No. 

[00:20:53] Munir Adam: Well, that's good to know. We do all have a responsibility to make sure we're using NHS resources appropriately because they are finite. 

Impact of Genomics on Cancer Treatment

[00:21:01] Angela: I guess there's just one more point that I'd make about the patient, you know, just coming back to the other impact that genomics can make on the treatment, and that in your case it allowed you to get that diagnosis really early for the patient, but actually knowing that that patient has a BRCA mutation may also have changed her surgery.

[00:21:19] She may have opted, for example, to have surgery on both breasts rather than just one because she would have had a really high risk of a second breast cancer over the rest of her And these days If she needed chemotherapy as a result of her, uh, of her disease, in your case it was really early, but some people won't be so lucky, then actually knowing that that person has a BRCA mutation can change the chemotherapy and also change suitability for maintenance treatment afterwards.

[00:21:47] And then of course there's all the other cancers that that person may also be at risk of that you can then do the prevention for. So for something like the The inherited BRCA mutations, having that knowledge and taking that family history, it allows you to have that high level of suspicion to refer that patient early for investigations.

[00:22:09] It allows you to inform them whether or not something like HRT or ongoing use of the oral contraceptive pill is going to be a safe thing. If they get a cancer, it allows you to make sure that they get the right surgery, the right systemic treatment, the right targeted agents, and also allows you to do that prevention to stop any further cancers for them or their family in the future.

[00:22:30] So you've literally got that whole wraparound package of the difference that genomics can make to a patient. 

[00:22:36] Munir Adam: That is incredible. And now I feel more confident answering that question that I was asking the audience towards the start multiple benefits potential benefits And the thing I heard is that tani, although you're a specialist in this, there's nothing that you did that required the input of a specialist, actually, you know, other clinicians could have done it too.

[00:22:58] So you've obviously emphasized how important these mutations are, but are they, you know, would you get like maybe one or two women for an average list? I don't know what average list is now, but if an average GP surgery has got, say, 10, 000. What we're talking about, three or four cases that maybe we need to think about?

[00:23:13] Dania: So I, I work in an area which is prevalent with the Jewish population and it's just about 40, 50 on my list. 

[00:23:23] Munir Adam: And 

[00:23:23] Dania: these are just the brakas, um, without the other ones that we'd know of. So it's really, really important because primary care is the first point of contact. We, we need to upskill ourselves and Actually, by upskilling ourselves in genomics, we make, um, we make the patient's journey easier and the patient gets seen quicker by secondary care.

[00:23:50] Munir Adam: Okay, right. So obviously much more common in the Jewish population, but just want to double check with you then. So if we call an average list 10, 000, is that going to be 50 cases in an average list, you know, with the BRCA1 and BRCA2 mutations? Yeah? Yeah, I can see you nodding. Okay, uh, so what does that work out? Let me do some maths. That is one in 200. Okay, thanks for that.

[00:24:18] Well, that was an interesting case. Squarely lands with the responsibilities that primary care and what difference primary care can make. Yeah. Thank you both for that. 

[00:24:26] 

Lung Cancer in Non-Smokers: Personalised Care

[00:24:27] Dania: The other thing that we found very commonly that have walked through my door as a GP is: I've never smoked, Doctor, but I've got lung cancer.

[00:24:39] Angela: Yeah, so this is an increasing problem. In fact, the fastest growing group of patients with lung cancer are non smokers, and particularly young female non smokers. And we could have a whole nother podcast on, on why that's the case. But I guess the first thing to say is lung cancer as a whole, the treatment has really changed since I first trained as an oncologist.

[00:25:02] So back in the dark ages, you had lung cancer, we gave you chemotherapy, we gave you the same chemotherapy. It didn't really extend your survival for most patients, but it sometimes helped with some of the symptoms. But actually what then came along was the understanding that About half of patients with lung cancer will have an underlying molecular change or a somatic change.

[00:25:27] So these are changes that occur just in the tumor cells. They're not inherited ones like our last patient and these are what impact on how the cancer is going to behave, how it's going to grow, and also the weakness in the cells. And the reason this is important is that for those patients who have specific molecular changes, we now have really good targeted treatments, most of which are tablets.

[00:25:52] that we can give these patients which have made a massive difference to long term survival. And your non smokers are a great example because many of our non smokers, particularly females or particularly those of Asian background, will have specific mutations in a gene called EGFR. in the tumor. And EGFR mutated lung cancers respond really well to tablet treatment.

[00:26:17] And we've seen patients who have been almost on death's door, you know, high flow oxygen in hospital, really, really sick. We find one of these mutations in their tumor and we start them on the tablets and a week later they're out of hospital, back to living a normal life. It's absolutely transformative.

[00:26:35] And so these days a patient is diagnosed with lung cancer you on the basis of their molecular changes. Uh, and this has just totally transformed lung cancer as a whole. 

[00:26:47] Munir Adam: Wow. Okay. So this is very different from what we were discussing with breast cancer, isn't it? Because this is not about diagnosing it. This is about who you can treat with certain treatments because they'll benefit based on their EGFR. That started, that made me, was it EGFR did you say? That made me start thinking about kidneys. It does indeed. Nothing to do with kidneys, right? 

[00:27:07] Angela: It's nothing to do with kidneys. No, it's nothing to do with your glomerular flow rate.

[00:27:12] No, it's a specific gene. But there are lots of different ones now. And I guess that's the other important thing. We find the non smokers predominantly have EGFR. We have other patients who have mutations in genes called RET or MET. And these are also targetable with specific drugs because at its most basic point cancer is just a disease of genetic change.

[00:27:37] What takes a normal cell into a cancer cell are all of these molecular changes. But where we're getting really clever these days is that a lot of them we can treat and that's how we target the cancer and how we choose which treatment someone should have. It's not just by saying, well, you've got this cancer, we'll give you this treatment.

[00:27:57] It's saying you. You've got this cancer, which has this specific change in its cancer cells. So this is the best drug for you. And this is going to change you from being dead in 12 months to probably being cancer free in a decade because of what it's making. 

[00:28:12] Munir Adam: Did I hear that right? Dead in 12 months. 

[00:28:15] Angela: You did indeed.

[00:28:16] Munir Adam: Versus 10 years. 

[00:28:18] Angela: Yeah, absolutely. So it's a real sea change in terms of how we approach cancer and how we think about how What we should take into consideration, and it makes sense because in the past we just used to look at. at someone in their general fitness and say, well, you're pretty fit. You've got this cancer.

[00:28:38] You could probably withstand these drugs. So that's what we'll give you. But now what you're doing with these kind of molecular changes in this kind of genomic testing is you're taking into consideration whether all of the person's characteristics but also all of the characteristics of the cancer and what makes it tick.

[00:28:55] So you're being really personalized about how you treat that person. 

[00:28:59] Dania: Doing genomics, having a special interest in genomics and working with, with colleagues in secondary tertiary care has actually been as a GP and eye opener saying how early diagnosis spending that extra few minutes on the history can be so beneficial to the patient and save, save lives just exactly like you said in the beginning.

[00:29:23] And similarly, even when we do cancer care reviews, there's a question. Are you a smoker? For somebody who is EGFR positive, never smoked in their lives. I had somebody who come in and I've seen someone for a cancer care review, came in and had seen me as the GP and broke down in tears. I've never smoked. Why do people keep asking me this question again and again? I don't know why I've done it. Maybe we need to think how to rephrase our questions, the cancer care reviews, make them also a bit more personalized. 

[00:30:03] Claire: You know, I can't thank you both enough because you've offered a really great stepwise kind of approach to this from base level, right through to what happens in secondary care, which is beyond my kind of scope of practice.

[00:30:15] But, you know, essentially recognizing these people that come into your into your clinic, having that really thorough family history. And like you said, Dania, like that consideration of genomics is never something before I did this podcast. that I would have considered. Um, and that's doing my patients a disservice.

[00:30:33] So, you know, that's really empowered me to have better, better kind of options of decision making processes for my patients. So that whole thing as well, um, within our practice, you know, multiple appointments, essentially because we're quite, Allied health professional heavy at the moment, as opposed to GP, we're very much, you know, if you see a patient, you get them back for review and things aren't changing.

[00:30:57] You're just not quite getting that. It's really important to recognize when to refer on to a GP colleague. But now, you know, gaining these areas of. of expertise from you guys means that actually you may feel better equipped to make those decisions yourself about what's now needed. So yeah, and the consideration of young people, you know, I think we're all at risk of having that bias and they come in with things that perhaps you think maybe aren't anything serious, but really could be and warrant that consideration.

[00:31:23] So, yeah, thank you. Munir, what's your thoughts? 

[00:31:27] Munir Adam: The big take home, there are lots of take home messages actually here. 

[00:31:32] Claire: Loads. 

[00:31:34] Munir Adam: But one really important thing is, uh, if somebody's coming either with their breast related problem or just concerned about her risks, Or it's a routine question because it's a discussion say, before starting HRT, for example, then the importance of thinking about the family history and using that to stratify the risk and not just asking about breast lumps.

[00:31:56] Claire: Absolutely. 

Conclusion and Next Episode Preview

[00:31:58] Munir Adam: So, yes, a lot of learning. These conditions are very relevant. In fact, cancers are common. They're the second biggest killer and anything that we can do to help with diagnosis... And as you guys pointed out, it's not even just about the diagnosis, but so much more than that about treatment options, about what's likely to work, about the family's risks, et cetera. The better, it's got to be better because let's face it, there's a lot more we could be doing to do with cancer. 

[00:32:26] Now, I said at the start that this is relevant because these are common conditions. The implication of that might be that if conditions are not common, then we don't need to know about them in primary care.

[00:32:38] Well, actually, that's not true either. How come? Well, that's what we're going to find out in the next episode. 

[00:32:44] Claire: Well, that's it for today. Thank you everyone for listening. And again, many thanks to Dania and Angela for speaking with us today. And we look forward to the next episode in a month's time.

[00:32:55] And until then, keep well and keep safe.