Instant Genius - How personalised medicine is about to change healthcare

Episode Date: March 15, 2024

There’s no doubt new advances in science and technology are having a huge impact on the way we live our lives these days. From Big Data and artificial intelligence to genomics and wearable devices that track daily our activity. Of course, medicine is no exception. All of these technological steps forward are pointing healthcare towards a coming era of personalised medicine that focusses more directly on the needs of the individual patient. In this episode we speak to Professor Sir Munir Pirmohamed, David Weatherall Chair in Medicine at the University of Liverpool, NHS Chair of Pharmacogenetics, and a consultant physician at the Royal Liverpool University Hospital. He tells us how advances in medical techniques such as genetic screening and a focus on patients’ differing reactions to treatment can go beyond a one-drug-fits-all approach to healthcare and even treat diseases before symptoms appear. Learn more about your ad choices. Visit podcastchoices.com/adchoices

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Visit name audio.com to learn more. Hello and welcome to Instant Genius, a bite-sized masterclass in podcast form. Each week you'll hear world-leading scientists and experts talking about the most fascinating ideas in science and technology today. I'm Jason Goodyear, commissioning editor at BBC Science Focus. There's no doubt new advances in science and technology are having a huge impact on the way we live our lives these days. from big data and artificial intelligence to genomics and wearable devices that track our daily activity. And of course, medicine is no exception. All of these technological steps forwards are pointing healthcare towards a coming era of personalised medicine

that focuses more directly on the needs of the individual patient. In this episode, I'm speaking to Professor Sir Manir, Pierre-Mohamed, David Weatherall Chair in Medicine at the University of Liverpool, NHS chair of pharmacogenetics and a consultant physician at the Royal Liverpool University Hospital. He tells us how advances in medical techniques such as genetic screening and a focus on patients differing reactions to treatment can go beyond a one drug-fits-all approach to healthcare and even treat diseases before symptoms appear. Okay, so today we're talking about personalised medicine.

So first off, what do we mean by personalised medicine and how does it differ from traditionalised medicine? and how does it differ from traditional approaches? Okay, so I'm a doctor that works in the NHS as well, and I rely on evidence, and the evidence comes from clinical trials. Clinical trials are done on a population basis, but when I'm seeing a patient in my surgery, the patient in front of me, I have to extrapolate from the population right through to that individual.

And that is an imprecise way of doing things, because I can't predict whether the person in front of me is going to respond to the medicine. to them or whether they're going to develop side effects. And in a way, what we're doing is using a one drug fits all, one dose fits all strategy. Personalised medicine allows us to be able to personalize the drugs and doses of the medicines for their individual to get a much better response to they have the right drug at the right time for the right outcome. You can take personalized medicine from very many different perspectives. At the moment, what we do is categorized disease on the basis

of 19th century definitions. If it's asthma, it's called asthma. However, we now are beginning to find through work that's been undertaken by many laboratories all around the world that diseases that are classified as one disease are not necessarily one disease. There are many different subtypes of the disease. And those different subtypes really require different treatments. Or basically, we are beginning to segment diseases and we're getting that stratification of diseases. And that stratification is going to be important in terms of determining what drug, what medicine is best for that particular subtype of asthma, for example. But even when we get to the stratum of disease, there will still be variability in how people respond to the medicines.

And this is where some of the new technologies such as pharmacogenomics comes in, whereby we're using genetics to be able to understand how you respond to your medicines. But then we also, on top of that, need to take into account the personal, social, environmental factors of the patient as well. And we need to put all that together in order to make sure the people get the right drug at the right dose. Yeah, so people often talk about the four Ps of personalised medicine, which is predictive, preventative, personalised and participatory. So could you break that down for us, please? Sure, yeah. So there are many terminologies out there. Let me start off with that. People call it personalized medicine, precision medicine, probabilistic medicine, the four P's. And that basically tells you

that we haven't got to where we want to be with regard to personalized medicine. When we have succeeded, it's just going to be called medicine. I think that's important. But the four P's really is a concept whereby you are trying to develop new techniques to predict disease early or even before it's occurred. So therefore you can bring in preventive approaches and focus on the individual who has those particular risk factors for that disease. So in a way, what we're trying to do with four P's is to move away from the kind of reactive approach that we have at the moment to a much more proactive approach, whereby we're focusing not on sickness and disease, but actually on prevention. And preventing the disease is going to be really important. The National Health Service

is not really national health service, it's national sickness service at the moment. In the future, through some kind of these approaches, we can actually develop into much more preventive national health service, so we prevent serious diseases from coming along. And really, that preventive approach is very important. It shifts what we do from hospitals to the community and puts much more onus on the individual in terms of participation. That's where the participatory comes in. When I see patients in my clinic and I ask them what medicines they're on, many of them don't know what medicines they're taking. They just tell me it's a white drug or a pig drug. what I want is people to participate in the care. And if they're collecting data, you know, through

wearables, that's made available to the sort of healthcare professionals, but they understand more about the medicines. That participation is really important. It becomes a partnership. At the moment, I feel it's a hierarchical approach whereby the patient listens to a doctor, pharmacist, nurse, but actually, I want them to be a partnership whereby they are very much involved in their own care. and that will mean that they're more interested and that will mean that you will get better outcomes. So even if nothing of the four piece works apart from participation will have succeeded.

So you touched on this a little bit there with wearables, but what sort of technologies are involved in this? So data from all areas is the key aspect of this. And, you know, people talk about big data and, you know, that will come from very many different sources. We've got many advances going on in genomics, and genomics provides, lots of data, but there are other types of technologies, such as proteomics, metabolomics,

which are all become important. But we also need to collect other types of data as well, which includes sensors that we wear now. You know, if you're carrying a phone, you have many sensors with you. If you're wearing a smart watch, then you're collecting lots of data with you. So, you know, that's all part of the data collection that we need. But obviously, when you get all that data, it becomes really complicated and it's all different types of data. and need the big data analytics. And AI becomes very important here. How do we use artificial intelligence, et cetera, to be able to look at all that data. And in the end, from that, what we want our solutions, and solutions which lead you to have the personalized diagnostics, which mean that

you can say, this is the type of disease you have, or this is the type of drug that you need. So what sort of role could AI play in this? So AI is undoubtedly going to be very important in all. of this, you know, from analyzing some of the genomics data, huge amounts of genomics data we're trying to generate, to analyzing the huge amounts of personalized data, the wearable data that we all collect and so on. I'm putting it all together. We've got disparate amounts of data, different types of data, and how do we put it all together, and then analyze that. And AI will be very important in terms of analyzing that. But AI is already being implemented

in parts of the NHS. You know, there are AI tools which are being used in terms of of looking at CT scans when people come in with potential strokes to be able to identify those who have strokes so they can get their medicines as quickly as possible. And that's a form of personalized medicine whereby using AI to be able to triage people who are at highest risk are going to get the best outcomes from new medicines and so on. So I think that's the important part of it. But I think it's an important aspect also is that there's a lot of promise about AI, but it's important to make sure that we actually evaluate the air. AI tool properly. Because AI, as with any medicine, has a potential to cause harm as well as benefit.

And we need to make sure that it's tested properly and regulated properly to make sure that we actually have the benefits and minimize the harms associated with it. Yeah, so it should be treated like a therapeutic tool, just like any other tools that we have at our disposal. Yeah. And in a way, because you're implementing AI into a big system, it can actually have a much bigger impact in terms harms as well as benefits. So we've mentioned there data and genetics. So one thing that comes up quite a lot is genetic screening. So what role does that have to play? Are we heading towards a future perhaps where we'll have genetic screening at birth? So you may already have heard that the UK is undertaking a newborn screening program at the moment with about 100,000 babies born

who are going to have genome sequencing done at birth. And clearly that needs parental consent. People need to be happy with that. And Genomics, England has done a lot of work with public participants to make sure that they've covered every eventuality to understand the ethical issues around it, what people want. And it's an opt-in situation whereby people will then need to consent that they want to have this done. And from that, they will be able to really identify rare diseases, which at the moment are not identifiable until the patient gets the symptoms.

And that's important because there are certain diseases. By the time you've developed the symptoms, is too late to treat you, for example, some central nervous system diseases. But if you know you've got a rare disease, you know that you've got a mutation in gene which causes our rare disease, there may be potential treatments available before you develop the symptoms, and therefore you can prevent the occurrence of that disease, so that may have major benefits in those situations. So that's genetic data. So will we also be collecting data on lifestyle factors, for example? Ideally, we should be. You know, I think most of us now carry a small.

smartphone with us. Many of us have smart watches and we are collecting a lot of data. I know in certain diseases, for example, Parkinson's and various other diseases, people are using different types of sensors to look at mobility, to look at unsteadiness, et cetera. So we need to be able to collect all that data. I have a smart watch. I have data from the last three years on my step count, on, you know, how good my six-minute walking distances, etc. But nobody uses that, apart from me. I look at it, but if we can actually provide that and link it to electronic health record data, we can learn an enormous amount from wearable data that would help us in terms of trying to undertake that 4P medicine, understand where diseases occurring, where maybe I'm developing arthritis.

That's why I'm walking a bit slower, you know, so that I can get the appropriate advice and treatment that I need. It may just be a matter of losing weight to help any arthritis I might developing, but actually it helps in terms of flagging out particular issues early on. And that's where the preventive approach comes in as well. So with all this data that's going to be collected, are there any concerns over security? And how do we deal with that? So with all sorts of data, we need to make sure that we have the relevant safeguards for privacy and confidentiality of data. Obviously, with regard to medicine, we've been collecting private data for a long time. You know, we have health records, you know, and we have the confidentiality, et cetera, in place within the NHS.

And so we need to be able to, you know, have the same safeguards that we've always had in order to make sure that although we are now storing things on electronic systems, we need to make sure that the cybersecurity is there and the privacy confidentiality aspects are guaranteed. And the people who are providing data need to be confident that that's happening. We need to have the trust, you know, the data has been collected, it's being used appropriately, and it's being used for the purpose it's supposed to be used for, which includes healthcare, but also when it's used for research, they need to make sure that they know there's being used for research as well. Study and play. Come together on a Windows 11 PC. And for a limited time, college students get

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With over 100 years of combined expertise, Name and Focal have been bringing music to listeners, just as the artist intended. Since day one, this mantra has shaped every innovation in high-fi design, technology and acoustic engineering, balancing craftsmanship and tradition with pioneering thinking. Name Audio pushes cutting-edge technology to ensure digital precision whilst sustaining Pratt, pace, rhythm and timing,

the elusive quality that makes music feel alive and gives it emotional texture. Today, in partnership with French acoustic specialist focal, name audio creates systems that deliver exceptional sound and unforgettable listening experiences at home. Try it for yourself at a focal powered by name boutique. Visit focal powered by name.com for more information. Yeah, so one concern that often comes up amongst some people with health data is the impact that it could

potentially have on things like health insurance. So is that an issue? So people have been particularly worried about genetics data and insurance, particularly when you're trying to get life insurance. But fortunately, there is a code of conduct, a voluntary code, between the UK government and the Association of British Insurers, which says that insurance companies will not want you to have a genetic test before you get insurance, but they will not want you to disclose any genetic tests you've done, apart from one exception, and that's for Huntington's disease. But that's only when you're asking for life insurance, which is above 500,000 pounds. So that's the only exception there is, and that code of conduct has been agreed, and it was reviewed, I think, in 2022,

and it's reviewed every three years to make sure with all the advances that are occurring in genetic technologies, that we have the relevant safeguards that are there for individuals so that genomics is advancing. We need to make sure that genomics is benefiting our population, but people are not frightened away from genomics because of potential concerns about insurance. But it's also important that for the insurance industry, actually, it's quite good to have genetics data. If you can actually identify somebody who's going to develop a disease and prevent that disease from occurring, it's actually better for the insurance industry as well, actually, if you can do that, instead of then trying to deal with the fact that the patient has developed a disease later on.

So let's have a look then at the current state of play with personalized medicine. What point are we at now and what kind of successes have we had? So personalized medicine has been progressing in different areas at different rates. So I think cancer is an area where personalized medicine is really made major impact. And if you look at most cancers, we now understand the genetic basis of a lot of different cancers. People have been able to use that data to be able to develop new drugs, targeted drugs, which allow you to be able to treat particular tumors. For example, malignant melanoma.

There was a drug which was produced, which impacted on one particular mutation, that drove malignant melanoma progressing to metastases and so on. And people were then able to give that drug, and the tumor really dissolved away, you know, in terms of within a couple of weeks. Unfortunately, it came back later on, but now what people are looking at is how you can have multiple combination therapies that allow you to be able to have long, sustained responses

and better survival outcomes from these very severe cancers. The other area where I think there's been major advances has been in rare diseases and the use of gene therapies. We've now got gene therapies which allow us to be able to treat diseases like hemophilia, which we've never been able to do before. Previously in hemophilia, you used to be able to give blood transfusions because of bleeds which were occurring. Then it was injection of factor eight to prevent bleeding from occurring. But now people have got gene therapy that you give one infusion, and it may be possible that that one infusion may be all that you need and it cures the disease. And we are now in a fantastic situation whereby we are able to cure diseases which we've never

been able to look at before or treat before. And that is what personalized medicine is done. So those are cancer and rare diseases where I think there's been major advances occurring. But what we need to think about is the more complex diseases and the diseases which affect the majority of the population as well. And there have been advances in the areas of pharmacogenomics. And pharmacogenomics is basically where you use genetic data to be able to define what is the best drug for you to be able to get the maximum efficacy and minimal toxicity. And for example, in HIV, a drug called Obakavir causes serious reactions with skin rashes and so on in about 5% of individuals. But a genetic test was identified, which has now been implemented in NHS, and that if you have a positive for that

genetic test, you don't get Abacavir, you get another HIV drug, and that's basically prevented abacavir hypersensitivity from occurring. This serious skin reaction doesn't occur anymore because we use the genetic test to prevent it. And we're using this in many other instances as well. For example, in patients who have cancer, 15% of patients get a drug called 5 fluororeal, and that's broken down in different ways in different people. And there's a genetic factor that determines how quickly is broken down. We now test for that genetic factor. And if you have the gene, which means that you do not break down the 5FU very quickly, you're given a lower dose to prevent you from getting bone marrow depression or getting severe problems with your bowels.

So a person's genetics can significantly affect how they respond to specific drugs. Yes, absolutely, very much so. And we have increasing evidence of that. We have increasing evidence of that from twin studies. We have increasing evidence of that from clinical trials. And people are now doing clinical trials where they are just giving drugs to people with particular genetic factors and looking at the responses. So we've spoken about a few different conditions there, chiefly cancer. But what sort of diseases are on the future hit list? You know, what are the top tier ones that we'd like to address? Ideally, every disease should be on that hit list, but there are several thousand diseases out there, so we won't be able to tackle all of them straight away. But I guess one of the biggest issues that's facing us is the changing

demographics, and our population is getting older, but not only are they getting older with one disease, they're getting older with several diseases. And, you know, majority of our population now above the age of 65 will have two, three, four, five diseases together. And they'll be on 15 drugs, for example. That's common. And we need to make sure that we can apply the practices and principles of personalized medicine to be able to help that population as well, because it shouldn't just be for the single diseases. We should need to be able to tackle multiple diseases. It's really important that we develop the best practices and the best science in order to be able to make sure that people get the right number of drugs that they need and to get the maximum efficacy from those medicines,

even though they may have six diseases. And so on. I think that's the biggest challenge that we face, actually, you know, in terms of going forward, because we're not just dealing with single diseases. We're often dealing with people with multiple complex diseases coming together. So probably anybody that's turned on the television news or picked up a newspaper recently will have heard that the health service is stretched like never before. So can personalise medicine contribute to boosts in efficiency of healthcare? Yeah, so obviously if you're going to introduce something new, it may take a while for the healthcare system to be able to implement it. And initially, there may be an increased outlay in terms of people required to be able to deliver it. And that's something that needs to be looked at in terms of implementation of new practices. However, one also needs to look at not only short term, but also on the longer term as well. If you introduce something which is personalized medicine, which prevents you from getting serious disease, then obviously it's going to have a major impact. on the health service in the future because people won't be being admitted with serious disease

associated with that because you've prevented that using the personalized medicine technology and so on. So yes, in terms of overall impact, I think personalized medicine has a potential to be able to reduce the overall impact on the healthcare system. In the short term, there may be an increased need because you have to be able to implement it and have the educational needs, have the new processes in place to be able to implement that into practice. Let me give an example of whole genome sequencing, which has been undertaken in the UK National Health Service, and we are the world leader in this, and we've implemented into the UK Health Service. So kids with rare cancer, all of them get whole genome sequencing.

Clearly, they had to have a blood test, which goes for your whole genome sequencing, and they need people to be able to analyze it, and then for doctors to be able to understand it, to be able to then to give the child the right medicine. So that takes a bit of time to be able to implement that once it becomes implemented into the health system, it actually becomes the new normal clinical pathway and becomes easy then to be able to understand and streamline taking forward. So we're talking about the National Health Service. Is there a role that private companies can play in personalized medicine? So there is private medicine and, you know, there are people who, you know, go to private doctors and I think there are many instances I know of where personalized medicine

approaches are already being used in private medical care. And it's important that we make those available to people in the NHS. We don't want to exacerbate health inequalities. We don't want to make personalized medicine the medicine of the rich. We just want to make sure that everybody gets personalized medicine. The NHS was set up so that everybody was treated in an equal way when they needed the care. And it's important that personalized medicine is used in the same way as well. But obviously, companies out there are going to have a role to to play in the implementation of personalized medicine, any healthcare system, including the NHS. There will be companies that develop AI tools, which then the NHS implements.

There will be companies that develop genomic testing that the NHS then buys, and there will be pharmaceutical industries that develop new drugs, the gene therapies, and so on, which the NHS then buys and so on. So it is an ecosystem where you need the public and private partnership to go together in order to drive things forward because the NHS can't produce drugs on its own. It needs to work with pharmaceutical industry to then make sure that drugs are available, new drugs available, better drugs available for our patients, for the diseases that they suffer. So yeah, we've covered an awful lot there. So sort of by way of closing, what would you say the next five, ten, or even

15 years look like for the future of personalised medicine? It's always very dangerous to predict the future. You're always, almost so strong. I always say the personalized medicine is an evolution in the way we practice medicine. It's not a revolution. If you consider what was happening in medicine in the 1930s compared to now, we've evolved in terms of the way we practice medicine. And this is part of evolution in the way we practice medicine. In terms of what might come through over the next few years, I think there's going to be

much more on terms of gene editing technologies which are introduced into healthcare. One's already been introduced recently for sickle cell disease and treating sickle cell disease, which are really fantastic new therapeutic opportunities, allowing us to be able to treat previously untreatable diseases, you know, which are going to come through. I think there's going to be more and more advances in cancer in terms of how we treat cancer, you know, so eventually cancer, hopefully in the next 10, 20 years, we will have most cancer, answer as being treatable, but we also then have the bigger challenges of multiple diseases occurring individuals, like in our elderly population, and how do we make sure that we improve

the health span, if you like, of our population, so that they live for longer, but they live in a healthy way, rather than at 50 or 60 years old getting multiple diseases, and they have a revolving door, going into hospital, coming out, going into hospital, etc. We want to be able to introduce these kind of practices, including 4P medicine, where you have a preventive approach, where you increase the health span overall of the population, and therefore prevent diseases from coming together and prevent the multiple diseases as well from occurring. So eventually people will get disease. Unfortunately, all of us die eventually, but they've had a full, long, healthy lifespan before

they get that final disease. Thank you for listening to this episode of Instant Genius, brought to you from the team behind BBC Science Focus. That was Professor Sir Manir, Pierre Mohammed, David Weatherall Chair in Medicine at the University of Liverpool, NHS Chair of Pharmacogenetics, and a consultant physician at the Royal Liverpool University Hospital. The current issue of BBC Science Focus magazine is out now.

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