Precision Medicine: What Challenges and Opportunities?

The treatment of chronic diseases needs a revolution.

We know that two people with the same disease can have radically different experiences. Take lupus, for example – many patients with the disease experience a different combination of physical symptoms. For this reason, we know that a “one size fits all” approach to disease treatment is not always effective.

So the question is: how to make treatment more tailored to individuals and the underlying biological causes of their disease? How do you divide up a group of patients with the same disease and match them with the treatment each one needs?

The answer? Precision medicine.

Coined as a term as recently as 2009, what precision medicine strives to do is understand the biology of a disease. It allows us to divide a group of patients with the same disease into smaller groups of variation based on biological indicators – also called biomarkers – to determine exactly what is motivating their illnesses and causing their symptoms.

One area where this is already happening is oncology. Precision medicine provides many cancer patients with targeted drugs, so they receive the right treatment they each need for their tumor type. This reduces the use of potentially less effective treatments and their potential side effects. But with chronic illnesses, it’s trickier. Most often, there is a clear moment when cancer is diagnosed, and then treatment begins. With a chronic condition, you could have symptoms for years, trying several treatments before you receive a diagnosis. The complexity of the conditions means they can have many different signs and varying underlying causes.

That said, we are making progress. We are actively pursuing precision medicine in the treatment of chronic diseases and we are increasingly aware of the challenges, as well as the wide range of opportunities.


The key problem that precision medicine will allow us to overcome is the unique approach to the treatment of chronic diseases. By understanding the biology underlying a disease, we can increase the likelihood that if you match a patient to a particular drug that targets their biology, they will respond to it. Not only would this make the treatment itself more effective, but it also means sparing patients the side effects of treatments they don’t actually need. In the long term, we could also reduce the waste of materials and medical resources.

Advances in technology offer a huge opportunity to make this a reality. Machine learning and artificial intelligencefor example, allows us to analyze extraordinary amounts of data, allowing researchers to examine the entire biological landscape of a patient.

The challenge

To identify different subgroups of a disease, we need to collect data from a large number of patients. It can be difficult to collect this data in a hospital setting, for example through imaging, blood and genetic tests, and it is also difficult to ensure that it is accessible to researchers.

Where are we going next?

Admittedly, we have come a long way already. It has been a little over three decades since the Human Genome Project was launched to uncover what underlies and drives human health and disease at the genetic level. Since then, the industry has experienced increased regulation and developed a framework for sharing genomic and clinical data while protecting patient privacy. The knowledge we have gained has already transformed pharmaceutical research and development, offering new hope for treatments for patients with various chronic diseases.

In 2015, the cost and duration of genome sequencing – a crucial part of the precision medicine approach – fell from around $1,000,000,000 in 2006 (in 6-8 years) to around $1,000 (in 1 to 3 days). And this year, the complete sequence of the human genome without gaps has finally been published. We are progressing really well.

We’ve also seen a much greater availability of big data stores over the last 10 years in particular. Building on this to find better ways to collect and analyze data will be key to advancing precision medicine. Ensuring that these are made available to the wider community is where we need to focus.

We also require data to be collected from huge numbers of patients. We need patients with chronic conditions to be aware and willing to participate in research trials with the support of their clinicians as well.

Revolutionizing the healthcare industry with precision medicine will no doubt be a tall order. But if we can collaborate – if the clinical, diagnostic, pharmaceutical and academic communities can work together – it’s achievable. We can, one day, aim to live in a world where treatments can slow, stop, and even reverse chronic disease.

About the Author:

Adam Platt is Vice President, Translational Science and Experimental Medicine at AstraZeneca.

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