Precision medicine
What is precision medicine?
Precision medicine is an innovative approach for tailoring disease treatment and prevention. It makes it possible for doctors and researchers to more accurately predict which treatments are more likely to work for a patient, taking into account individual genetic and molecular make-up, environment, and lifestyle.
By unravelling the complex underlying biology of many diseases, and pioneering and applying advanced technologies, we are leading the way in the application of precision medicine. Our work, and our collaborations with partners across industry, biotech and academia, are driving for better treatments for patients as well as a more sustainable future for healthcare systems.
Shaping the future of medicine across our portfolio
We are applying precision medicine approaches across our R&D portfolio deepening our understanding of disease biology, developing novel therapies and supporting the development of innovative diagnostic tests to improve clinical trial success and help target the right medicines to the right people across oncology, chronic and rare diseases.
Precision medicine in oncology
We’re pushing the boundaries of science in oncology, aiming to provide precision medicines matched to the patients who can benefit most from them. We are committed to our visionary pipeline, focused on the development of precision medicine advances across multiple hard to treat tumour types that can help shape the cancer environment by changing both clinical and medical practice.
Our advances across our six scientific platforms have helped to improve the patient experience while developments in epigenetics and across cell, gene and combination therapy hold the promise of new possibilities.
Precision medicine in chronic diseases
Chronic diseases – such as asthma, chronic obstructive pulmonary disease (COPD), heart failure, and chronic kidney disease (CKD) – affect billions of people worldwide.
They are complex and heterogeneous, meaning that they can manifest in many ways, which can make accurate diagnosis challenging. This complexity reflects a wide range of underlying biological causes that can each require different treatments. It is for these reasons that COPD and CKD have seen little innovation in decades and metabolic dysfunction-associated steatohepatitis (MASH) still has no approved treatment.
Using a precision medicine approach could help to detect disease earlier and identify the causes of disease, which has the potential to inform and improve treatment decisions.
Precision medicine in rare diseases
While a single rare disease may affect a small number of people, collectively the more than 7,000 known rare diseases affect an estimated 400 million people globally.
Studying rare diseases poses unique challenges as patient populations are often small and dispersed. The underlying biology of many of these conditions is not well understood and few diagnostic tools exist, leading to a lack of awareness among scientific and medical communities. As a result, the majority of rare conditions still do not have an approved treatment.
Precision medicine is creating opportunities to understand the fundamental biology of rare diseases, identify new molecular targets and enable new research pathways with the potential to accelerate the pace of discovery for new treatment options.
Our scientists are working hard to deliver the benefits of precision medicine. Using multi-omics, novel technologies, imaging, artificial intelligence, and machine learning they are digging deep into the biological processes that cause and drive disease. Our ambition is to develop and validate new treatments that make it possible to diagnose and intervene earlier, halt disease progression, achieve remission, and enable patients to have better outcomes and healthier futures across the world.
Our approach to precision medicine
Our pioneering research into precision medicine harnesses huge networks of scientific and patient data to uncover new knowledge and important disease insights that will enable us to:
- Identify novel drug targets that are expected to have a higher probability of success.
- Identify biomarkers that can help characterise patients into subgroups most likely to benefit from treatment.
- Support the design of better clinical trials, where the right patients are recruited to participate.
- Develop diagnostic tests that can help guide treatment in the real world.
We’re applying a precision medicine approach across 90% of our R&D portfolio. We put patients at the heart of our medical research, confident that by matching the right treatment to the right patient at the right time, and intervening earlier before progression, we can change the course of disease and allow patients to live better, healthier lives.
Asthma
Asthma
In respiratory diseases, like asthma, there is intense interest in precisely targeting molecules that stimulate key inflammatory pathways that could lead to the development of novel precision medicines in the future.
Asthma can be a devastating disease with 176 million attacks each year and debilitating symptoms, particularly for those living with more severe forms.1
By targeting the inflammatory drivers that play an important pathological role in asthma we can break whole patient populations into subgroups depending on their individual disease biomarkers.
One example is our work to identify specific leukotrienes that drive inflammation, bronchoconstriction and mucus production in disease. Our precision medicine research is exploring these molecules as urinary biomarkers to help classify patients’ disease and match them with targeted treatments they are more likely to respond to.
Chronic kidney disease
Chronic kidney disease (CKD)
Chronic Kidney Disease (CKD) encompasses various primary disorders and stages of progression, and the patient population is highly heterogeneous. The current symptom-based approach ignores the different underlying mechanisms. Our aim is to close this gap, by uncovering the underlying genetic and molecular drivers of disease to identify the right treatment for the right patient.
Using unique datasets, the team has applied machine learning and artificial intelligence algorithms to classify patients into subclasses. For the first time, our research has shown that these disease categories based on molecular data are different from previous clinical classifications for CKD. We are now looking to identify urinary biomarkers which could be used to identify patients’ molecular disease classes non-invasively, allowing us greater precision when aligning the right patients to the right trials. In the future, our ambition is to provide tailored treatments based on individual disease, or patient, categories determined by molecular disease drivers.
Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD)
In chronic obstructive pulmonary disease (COPD) we have seen little innovation in decades despite it being the third leading cause of death world-wide.2 To address this, we are dissecting the 500+ abnormally expressed genes and defining their role in disease. This precision medicine approach will help us identify potential novel targets for life-changing medicines.
By targeting disease drivers of COPD, such as oxidative stress, cell senescence, chronic inflammation and fibrosis, we aim to develop precision medicines focused on disease modification so as to slow and stop disease progression. To find the right patients for these novel treatments, we need to understand more about COPD in different people and find new ways to assess the effects the disease. Access to data from cohorts of people with COPD is providing new insights into the molecular mechanisms of COPD and has helped us to develop non-invasive imaging methods that could be used in future to help stratify patients or monitor treatment response. Incorporation of precision medicine approaches like this early in the clinical development pipeline will support the identification of the right patients for subsequent clinical trials.
Heart failure
Heart failure
In heart failure (HF), patients are likely to have multiple co-morbidities, any of which may affect their outcome and response to heart failure therapies. To deliver our precision medicine approach we need to understand the molecular and genetic landscape, including the impact of comorbidities such as chronic kidney disease or obesity.
Targeting key mechanisms of HF including widespread inflammation, fibrosis, hypertrophy and microvascular dysfunction is a major priority.
Many HF cases have a hereditary component and by identifying variants in the genome we can gain new genetic insights. Among the genetic drivers in dilated cardiomyopathy is a mutation in the gene for phospholamban, which is linked to impaired heart muscle contraction and relaxation. This understanding enables the exploration of this genetic variant for the development of potential new therapeutic targets.
Metabolic-disorder associated steatohepatitis
Metabolic-dysfunction associated steatohepatitis
Our precision medicine approach in metabolic-disorder associated steatohepatitis (MASH) is two-fold; firstly, we aim to identify the right patients with the presence of disease-causing gene variants, then we selectively disrupt this protein expression with novel antisense oligonucleotide (ASO) therapy.
MASH is a multi-component disease with high unmet needs and severe patient outcomes. At the forefront of precision medicine research, we are targeting genetic mutations associated with MASH, which are responsible for an approximately four-fold increase in risk of the disease.
For example, a single nucleotide substitution in the PNPLA3 gene severely impairs normal fat breakdown in liver cells. We are investigating ways to downregulate PNPLA3 and so potentially restore lipid metabolism.
Systemic lupus erythematosus
Systemic lupus erythematosus (SLE)
Our research is unlocking the science of the immune system to address significant unmet needs in Systemic Lupus Erythematosus (SLE). This complex disease is driven by multiple cell types and mediators, and we are exploring these with our precision medicine approach.
SLE is a chronic immune-driven disease in which the body’s immune system attacks healthy tissue in any part of the body.
At the forefront of our precision medicine approach is the Interferon (IFN) pathway which plays a central inflammatory role in SLE. Approximately three quarters of patients with SLE have an elevated IFN gene signature and clinical trials have shown that over expression correlates with a positive treatment response.
Harnessing this precision guided research could hold great potential to expand this approach into other conditions where, even though symptoms may differ, the underlying type 1 IFN gene signature is conserved.
Applying state-of-the-art technologies
Our technology-driven approach is accelerating the way we design and develop new precision medicines and diagnostics tests, powering a new era of scientific discovery.
Understanding the genome: Patient data banks are advancing our knowledge by helping to match genetic profiles and gene mutations to specific health outcomes. Ongoing advances in genome technology allow us to characterise patients into subgroups based upon their underlying disease mechanisms and identify the most appropriate genetic targets. We have also made major investments in multi-omic technologies (genomics, transcriptomics, proteomics, metabolomics, lipidomics) that are key to building a more complete picture of the complexities of disease, which can inform new tests and therapies.
Finding novel targets: We are combining our rich datasets with external sources of patient data and applying AI and machine learning to discover associations between data and disease, achieving healthcare breakthroughs more rapidly than ever before. For example, we are partnering with Benevolent AI to create knowledge graphs which allow us to analyse vast amounts of scientific data to see potential interactions between gene targets, expression and disease.
Revolutionising imaging: Using advanced imaging technologies we can now capture at a molecular level the cellular interactions that can both define a disease, as well as monitor the efficacy of treatments based on the modulation of tissue biomarkers in response to a drug.
We are taking these advances in imaging technology into our clinical trials, redefining endpoints to demonstrate disease modification with targeted treatment.
Accelerating design of new diagnostic tests: Finding the right patients depends on reliable diagnostic tests. Ideally these should be capable of detecting early-stage disease and minimally invasive so they can be used to screen patients before symptoms develop.
We are collaborating with external partners to identify biomarkers and develop them into non-invasive tests, which could be validated for use in helping to diagnose patients.
Striving for better, healthier futures for patients
Across the globe, healthcare systems are seeking new strategies manage the effects of a growing population living with complex disease comorbidities. Precision medicine provides clear advantages for patients, healthcare systems and those involved in the provision of care – through earlier diagnosis, avoidance of unnecessary treatments, improvements in the course of disease and better outcomes.
The potential of a precision medicine
Patients
Reduced trial and error
Physicians
Patient benefit with improved outcomes
Payer
Pay for only the correct treatment
Regulators
Efficacy and safety
Science
Disease understanding, tailored therapy
By enabling treatments to be targeted to the right patients, precision medicine represents a new model of care, evolving from the current untargeted approaches that often rely on ‘trial and error’ to find the best available treatment. As therapies that are unlikely to be effective are avoided, there is less drug wastage, fewer side effects and total healthcare utilisation including length of hospital stays is reduced, providing savings to already stretched healthcare systems and building more sustainable care for everyone.
Precision Medicine FAQs
How does precision medicine work?
Precision medicine is an approach that helps to match the right patients to the right medicines at the right time. Typically, this involves using diagnostic tests that can be used to identify different groups of patients based on the biology of their illness. Right now, patients are often treated based on their symptoms, which may not reflect the causes of their illness. In many cases this results in poor symptom control and does nothing to slow, stop or reverse disease progression.
For example, standard medicines for people with asthma aim to prevent exacerbations and control symptoms but asthma can have many different causes. Precision medicine aims to provide diagnostic tests that will help doctors to learn more about the underlying causes of asthma in each patient. As a result of the tests, different groups of patients can then be given treatments that target the underlying causes of illness.
What are the benefits of precision medicines?
Precision medicine can help more people to gain greater control over their illness and better quality of life faster by providing more accurate disease diagnosis and using treatments that target the causes of disease.
The development of specific diagnostic tests can help doctors to understand the causes of illness for each patient and this should allow more patients to be given treatments specifically designed to target the biological processes that are making them ill.
As a result, precision medicine reduces the guess work involved in diagnosing patients and means that more patients can be given highly effective treatments that won’t just control their symptoms but that could help to slow, stop or even reverse their disease.
Why is precision medicine important?
Precision medicine has the potential to transform healthcare. Since precision medicines target the underlying biology of disease there is potential to develop more effective treatments and to treat people who currently have no options. By incorporating diagnostics and specifically targeting the causes of disease, precision medicines also have the potential to detect more diseases earlier and to stop, or even reverse disease progression meaning that more people can get treatment sooner, experience fewer symptoms and possibly even be cured of their disease before it significantly impacts their life. This has benefits for patients but will also improve healthcare for clinicians and payers as well as having global sustainability benefits.
When is precision medicine used?
There are many diseases where patients have typically all been treated the same even though their illness can have many different causes and can affect their health in different ways. For any of these diseases a precision medicine approach could be beneficial. Where there are existing treatments, precision medicine may offer more effective alternatives by targeting the underlying biology of disease.
Precision medicine could also help people who currently have no treatment options. A precision approach would focus on a more specific subpopulation of patients so could result in effective treatments for specific groups where it was impossible to find a single treatment that was effective for everyone.
Where did precision medicine come from?
Precision medicine is the result of our deeper scientific understanding of the causes of illness. Supported by new technologies, advances such as the sequencing of the human genome have shown us that the causes of chronic diseases are complex and that the same illness can have many different causes, each requiring different treatments. These deeper insights have also made it possible for us to start developing medicines that specifically target the causes of disease.
What is the difference between precision medicine and personalised medicine?
Although the terms are sometimes used interchangeably, many experts use them differently. We use the term precision medicine to describe an approach to treatment that involves matching specific groups of patients to the most appropriate treatments based on scientific insights into the underlying causes of their illness.
Why do we need precision medicines?
Taking a precision medicine approach has many benefits, most importantly it offers the potential for a better quality of life for patients and it has the potential to reduce pressure of global healthcare systems.
Currently, people diagnosed with chronic diseases generally have to live with their effects for the rest of their lives. By targeting the causes of disease, precision medicine has the potential to control the symptoms of disease and, in some cases, could even provide a cure.
Better disease control for patients also means less demand for healthcare services, which are being put under growing pressure due to factors such as increasing population, ageing, obesity and the after effects of the COVID-19 pandemic. Together with other innovations, precision medicines could reduce the need for extensive, long-term healthcare support, meaning fewer appointments and less time in hospitals.
Can I get precision medicines now?
Precision medicines are already available for the treatment of some cancers and rare genetic diseases. Currently, precision medicines for chronic diseases are also being researched. Across all areas, precision medicine approaches are being explored for more than 90% of our R&D pipeline.
Why don’t we have more precision medicines already?
To develop precision medicines we need an in-depth understanding of the biological changes that cause diseases. This requires extensive scientific insights and advanced technologies, which simply weren’t available until recently. For example, genetic sequencing and genome editing have helped to identify which genes are involved in different diseases and this is making it possible to develop precision medicines targeting these genes.
Is precision medicine just for cancers?
No. Many of the first precision medicines have been developed in cancers but the same approach can be applied to many other diseases. Generally, precision medicine is relevant for any disease that can have multiple different causes that all result in a similar set of symptoms. We are currently investigating precision medicine for a wide range of chronic diseases including asthma, COPD and diabetes as well as cardiovascular, renal, liver and immunological disease.
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References
1. AstraZeneca Pharmaceuticals. Data on file. Budesonide/formoterol: Annual Rate of Exacerbations Globally (ID:SD-3010-ALL-0017).
2. World Health Organisation. Chronic obstructive pulmonary disease (COPD). Available at: http://www.who.int/news-room/fact-sheets/detail/chronic-obstructive-pulmonary-disease-(copd)
3. Rinella ME, Lazarus JV, Ratziu V et al. NAFLD Nomenclature consensus group. A multi-society Delphi consensus statement on new fatty liver disease nomenclature. Hepatology. 2023 Jun 24. doi: 10.1097/HEP.0000000000000520.
Veeva ID: Z4-59521
Date of preparation: November 2023