Precision Medicine and Genomics


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Scientists at AstraZeneca are working every day to turn science fiction into science fact. Our dream - to develop innovative, targeted medicines for every patient that needs them - and to match those treatments to patients most likely to benefit from them – is now becoming a reality.

This approach, known as Precision Medicine, is based on those individual characteristics that make some patients respond to treatment better than others. We use this knowledge to develop diagnostic tests that doctors can use to help prescribe the best treatment for each patient. Indeed, it’s now become common practice for patients with cancer to be offered such diagnostic tests before their treatment plan is agreed.

We’re proud that we’ve launched 16 linked diagnostics in key markets, aligned to four targeted AstraZeneca treatments, for patients with some of the most challenging diseases of our time, including lung and ovarian cancers. We are now starting to use the same approach in respiratory and cardiovascular diseases.

We are also harnessing the power of genomics – the study of the complete genetic blueprint for life – through our AstraZeneca-MedImmune Genomics Initiative. This strategy – to analyse 2 million genomes by 2026 - is an industry first in scale and scope. It is enabling us to identify new targets and new biomarkers for medicines by putting genomics at the heart of drug discovery and development.

Importantly, we recognize that we cannot achieve our ambitions alone. We are working with the best partners in the world - an extensive network of diagnostic companies, academic partners and genomics biotechs - to accelerate delivery of targeted medicines and linked diagnostics.

As we make Precision Medicine and Genomics our way of life, from identifying novel drug targets to commercialisation of ground breaking new medicines, we are at the forefront of a revolution in patient care. 

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Scientists’ ability to match targeted medicines to patients most likely to benefit has been greatly accelerated by the mapping of the human genome. This international research effort, which involved over 200 scientists working for over 10 years, included sequencing approximately 20,500 genes that act as the ‘instruction manual’ for human life (the ‘exome’) for the first time.1

At AstraZeneca, we followed this exciting new science to explore the DNA mutations that cause cancer. We developed medicines targeted at mutations in epidermal growth factor receptor (EGFR) - frequently found in tumours of patients with non-small cell lung cancer. As science advanced, we were able to develop diagnostic tests that matched patients best suited for these new treatments.

“When we started out, our ambitions were very modest. We set ourselves the goal to have just one approved diagnostic linked to a medicine within five years. Only eight years later, we have launched 16 diagnostic tests linked to four innovative, targeted medicines. We are using a much broader range of technologies – and developing them across all our main disease areas,” explains Dr Ruth March, Senior Vice President, Precision Medicine and Genomics, Research & Development BioPharmaceuticals.

Alongside such scientific developments have come changes in terminology. When we first invested in this area, there were only a few examples where diagnostics were used to guide treatment decisions. Now that our understanding has advanced, scientists are increasingly using the term Precision Medicine to describe the use of diagnostic tests to match treatments to patients most likely to benefit.2 Research tells us that this term is most easily understood by physicians, policy makers and most importantly by patients and their families.2

Only now can the science of Precision Medicine draw on a broad range of cutting-edge technologies: genomics, next generation sequencing, point of care devices, molecular image analysis, transcriptomics, proteomics, digital pathology, sensors, ‘big data’ statistical analytic techniques and artificial intelligence. These exciting developments mean that biomarkers and diagnostic tests can benefit many more patients across disease areas.

At AstraZeneca, we are now using the term Precision Medicine across the company, including the entire spectrum of drug discovery, development and commercialization. In October 2017, we launched a new Precision Medicine and Genomics function within the Research & Development units, which reflects the broader range of cutting-edge diagnostic technologies and their wider application across all our main therapy areas.

  • Genomics – the study of the complete set of an individual’s genes (DNA)
  • Transcriptomics – the study of an individual’s RNA, the cell’s essential tool for coding, decoding, regulation and expression of genes
  • Proteomics – the study of the entire set of proteins produced by an individual when their DNA is decoded



Embedding genomics across drug discovery and development enables us to gain fresh insights into the biology of diseases. It allows us to identify novel targets for new medicines, select patients more efficiently for clinical trials and match patients with treatments from which they are most likely to benefit.

“Genomics is the most powerful tool right now for understanding the cause of disease. It’s important for early evaluation of targets to better understand their biology and for designing stratified trials that reflect the causes of disease. Genomics can also be used to reduce the unexplained variation in outcomes of trials and to better identify compounds that really have an effect,” explains David Goldstein, Chief Advisor, Genomics at AstraZeneca and Director of the Institute for Genomic Medicine, Columbia University.

The AstraZeneca and MedImmune Genomics Initiative, launched in 2016, has the bold ambition to analyse up to two million genomes by 2026. We are sequencing 500,000 samples from patients in studies we have carried out over the last 15 years and until 2026. The initiative will also analyse genomic and corresponding clinical data provided by academic partners around the globe.

We are using state-of-the-art, next generation sequencing (NGS) to read every ‘letter’ of every gene in our samples. NGS is up to a million times faster than previous technology, and less expensive. We use the very latest ‘big data’ statistical analysis techniques to pinpoint genes that may cause disease within trillions of DNA ‘letters’ or bases.

At the Centre for Genomics Research (CGR) in Cambridge, UK, we are building a team of AstraZeneca experts – the brightest and best genomics minds -  to implement this Initiative, generating and analysing genomic data alongside clinical results.

“It’s really valuable to consolidate our genomics research in one place, because genomics really is something that's best practised at scale where every study you do informs every other study you do, at every stage of the drug development pipeline,” says David.



Precision Medicine and Genomics is fundamental to the way our scientists work across all our main therapy areas, in collaboration with world-leading academic and industry partners. Although Oncology leads the way in approved diagnostics, we are now making progress in bringing the benefits of Precision Medicine and Genomics to patients in Cardiovascular and Metabolic disease (CVMD) and in respiratory disease.

In CVMD, the focus of our initial research has been Chronic Kidney Disease (CKD). This disease affects as many as one in 10 people in the world.3 It can lead to progressive kidney damage and increase the risk of heart disease and stroke, and premature death.4 We are sequencing whole exomes (WES) of samples from our past clinical trials and analysing results together with our collaborators, particularly Dr Ali Ghaviri’s team, in Columbia University Medical Center.

As WES focuses on exomes, we can carry out in-depth analysis of all the variations in the protein-coding part of any gene. Together with statistical experts in David Goldstein’s team, we are using up to date statistical techniques, called collapsing analysis, to pin-point genes that potentially contribute to the cause of disease.

“Using WES, our scientists have collaborated with researchers at Columbia University in New York to detect a genetic basis of CKD in some patients with the disease. Over half of these positive cases would have been missed by clinical classifications, which may make an important difference to patient care,” explains Ruth March.

In respiratory disease, we are focusing on targeted diagnosis and treatment for asthma, especially for patients with severe disease. These patients have high levels of immune cells called eosinophils, which make airways inflamed and hyper-responsive, leading to increased asthma symptoms and exacerbations.

“Existing tests for eosinophils can take weeks to send off to a lab for analysis. But we have now created the world’s first prototype handheld test for an eosinophilic biomarker, called eosinophil derived neurotoxin. This gives us results in minutes – enabling patients to be prescribed the best treatment straight away,” says Ruth. 



The last ten years have seen dramatic advances in the use of diagnostic tests to match targeted therapies with patients most likely to respond. Our ambition is that every patient who needs targeted therapy can access the latest diagnostic science to help them and their doctors come to the best treatment decisions.

Our diagnostic tests measure biomarkers – usually genes or proteins in tissue, blood or other samples –  that predict disease or response to treatment.

“We use biomarkers at all stages of R&D, from drug discovery through clinical trials to commercializing the drug with linked diagnostics. By studying the unique profile of an individual patient and their disease, through protein, genomic or other biomarkers, we can identify targets for new medicines more quickly, design better trials, and develop powerful treatments faster,” says Ruth March.

In early clinical trials, patients coming into a cancer clinical trial with multiple treatment options may be offered a diagnostic test for multiple biomarkers. According to the result, they will be matched to the treatment that is most appropriate for them. This ‘basket’ approach minimises testing for patients, ensures they are offered the best treatments quickly and increases our efficiency in evaluating targeted drugs.

In late development, we collaborate with strategic diagnostic partners to develop, submit for regulatory approval and launch tests to identify patients who are most likely to respond to our new targeted treatments.

Since AstraZeneca first invested in the Precision Medicine approach in 2009, we have achieved many key “firsts” in diagnostic science, including the first drug label based on a mutation test in circulating tumour DNA (tiny fragments of tumour DNA found in the blood), instead of a sample of a patient’s lung tumour.

As Ruth comments:

“For patients who are too ill to undergo a procedure to get a sample of their lung tumour, or whose tumour is too inaccessible to biopsy, a circulating tumour DNA test is an important advance in ensuring they don’t miss out on targeted treatment based on their EGFR status.”

Likewise, our test for BRCA mutations found in some breast and ovarian cancers (Myriad BRACAnalysis CDx) was the first companion diagnostic in the world to predict response to PARP inhibitors. As there are thousands of small differences in BRCA genes, this was also the first companion diagnostic to be approved by the US FDA as a laboratory based test using an algorithm to predict those mutations that cause disease.



At AstraZeneca, we are turning science fiction into science fact. With Precision Medicine and Genomics, we are changing the face of drug discovery and development.

In the next few years, we expect diagnostic testing to be available for every patient that needs it – in laboratories, patients’ homes or doctors’ offices - to match them to the best targeted treatment. For patients who don’t yet have targeted treatments, we expect our Genomics Initiative to result in a new wave of drug targets and biomarkers. 


1.     National Institutes of Health. National Human Genome Research Institute. An overview of the Human Genome Project. Accessible at:

2.     March R. Schott C. Personalized/Precision Medicine/Personalised Healthcare – the art of giving different names to the same thing? Personalized Medicine 2017, epub online 26 October 2017

3.     National Kidney Foundation. Global facts about kidney disease. Accessible at:

4.     Centers for Disease Control and Prevention. National Chronic Kidney Disease Factsheet, 2017. Accessible at: