By studying the crowd, researchers and doctors will be able to find what makes each of us individual. (Image credit: Carine06, Flickr)
By Sarion Bowers
No two human beings are the same. Each one of us is a completely unique individual and because the DNA we inherit at birth changes over time, as a result of the effect of our environment on us, even identical twins do not have the same DNA. Because no two people are the same, and no two people experience the same things throughout their life, it’s reasonable to say that each disease behaves differently in each person.
A classic of example of this can be seen in cancer. Every cancer is a unique disease. Cancer is essentially a disease of our genes, caused by one or more faults in our DNA, and because every person’s DNA is unique, so is their cancer.
Traditionally, doctors have categorised cancers into groups based on what part of the body they affect. Later, they were able to divide these groups into sub-groups based on the visual features of the cancerous cells when looked at under the microscope. Most recently, scientists have identified genes associated with types of cancer. Probably, the most famous of these are the BRCA1 and 2 genes; mutations in which are known to cause breast cancer which runs in families. However, not everyone who gets breast cancer has a BRCA mutation and even within the BRCA genes there are different mutations that make the cancer behave in different ways, changing the prognosis for each patient.
By sequencing thousands of genomes from patients suffering from a plethora of diseases from cancer, and developmental disorders to malaria, scientists have been able to identify mutations in individuals’ genomes and link them to characteristics of the disease they suffer from, whether it is resistance to a cancer drug or a rare genetic disorder.
It is not just by collecting genome sequences that researchers are learning more about individual traits. Health researchers are increasingly using big data to identify highly nuanced trends, which are only visible in very large datasets, and then identify individuals with a particular risk or who would benefit from a particular treatment. By studying the crowd they are able to find what makes each person individual.
Research and clinicians have been gathering and analysing this kind of information for a few years now, and increasingly are looking to take their knowledge and translate it into new ways of treating patients as personalised medicine. However, taking it into the clinic requires more than just good science. Introducing any new technology into a healthcare system requires changes in working practices, development of new skills, possibly new infrastructure, resources and most of all commitment from all stakeholders including patients and public.
Personalised medicine is absolutely worth pursuing, but to overcome all these hurdles it will take a community of researchers, clinicians, healthcare workers, policy makers and countless others, including patients, to make it work. It is not impossible to achieve this, nor does it mean abandoning the entire structure of our existing healthcare system.
In recognition of the fact that we believe that personalised medicine is achievable in the NHS, we partnered with the PHG Foundation, the BMJ and the Northern Health Science Alliance to form an All-Party Parliamentary Group (APPG) on Personalised Medicine. The APPG recently held its first event, attended by medical charities, patient advocates, research organisations, clinicians and Parliamentarians, including George Freeman, Minister for Life Sciences, who highlighted the importance of the community that makes up our healthcare system when discussing his vision of personalised medicine when he said:
“Every patient with a diagnosis can join an NHS disease portal, join a community of care, drive a care pathway, share data with the research organisations and with charities who have got a big role in this.”
The APPG plans to work and collaborate with other interested parties to examine the issues outlined above and to provide practical suggestions for how to bring personalised medicine to the NHS. Our next event for Parliamentarians is on the 100,000 genomes project, where members will have the opportunity to hear from speakers from Genomics England, followed by a Q&A.
Talk of personalised medicine is often couched in terms that can make it difficult to understand. Discussions of new technologies, with accompanying talk of revolutions and paradigm shifts, are little understood and distant from the wider public, and can lead us to forget personalised medicine’s true purpose: to put each patient at the centre of their own treatment and healthcare. It is unquestionable that new technologies such as genomics, bioinformatics and big data science are driving personalised medicine but they are more complementary to existing medicine than is immediately obvious. Ultimately, personalised medicine, whilst requiring us to adopt and adapt new ways of working do not fundamentally change the medicines and the methods we use to treat disease. Rather, they guide us to treat the individual instead of the crowd.
Sarion Bowers is the Research Policy Advisor at the Wellcome Trust Sanger Institute. She has a PhD in Biochemistry. Before joining the Institute she did postdoctoral fellowships in Leeds and Connecticut. She recently completed an MSc in Science and Technology Policy, in which she researched the adoption of genomics into the NHS.