Ewan Birney FRS FMedSci, Director of the European Bioinformatics Institute, explores how genomics and big data – from DNA sequence to high-resolution imaging – present both opportunities and challenges for healthcare.
He will be giving a talk, How big data analysis is changing how we understand the living world on 15 March.
We have been living through a revolution. The price of DNA sequencing and other high-throughput technologies has dropped like a stone over the past ten years, transforming molecular biology and opening the field for radical innovation. Combined with technologies that enable ordinary people to continuously monitor their bodies – and their doctors to provide glimpses of their internal workings – our approach to understanding the processes of life has changed radically.
Technologies like MRI scans, FitBits and Apple Watches have empowered us to monitor and measure ourselves (and the organisms in and around us) easily and routinely. Genome sequencing is more accessible than ever to those who are curious about their ancestry. The result of all of this is the generation of far more data on individual humans, animals, plants and even environments that is potentially useful for both research and healthcare. For example, the NHS-led 100,000 Genomes Project will generate and study an unprecedentedly massive dataset – the genomes of 100,000 people, at 3 billion base pairs apiece – to pick apart rare diseases and cancer. Another example is infectious epidemiology: scientists recently used portable DNA sequencers to track the Ebola virus in the field in western Africa.
Big-data challenges in biology and healthcare range from common issues like storage and streaming to deeply complex, intellectual matters like identifying factors that predict a disease, and interpreting that information accurately. I have been involved in this transformation for the past 20 years, growing up with the relatively new field of bioinformatics – where computer and life sciences meet.
My talk will touch on the story of genomics so far, drawing parallels with game-changing technologies such as X-rays and their adoption in the 19th Century. I will explore recent innovations and the opportunities and challenges they present, and discuss their potential impact on society.
CSF: What are some of the ways technology is changing healthcare and life sciences?
EB: ‘Big Data analytics’ covers a very broad range of technologies that are used by people who need to make sense of large datasets. In the life sciences, these datasets represent things like large collections of DNA sequences, for example in humans, bacteria or cancers. When genome-sequencing analytics work very well, the result can be transformative for individual patients – particularly those who suffer from rare genetic diseases. Analysis of the DNA sequence can lead to a swift, definitive diagnosis that saves patients and their families from protracted testing, and the uncertainty that goes with it. Occasionally it can lead to cures for a small group of patients, which has a profound impact on patients and their communities. It is also changing the way we approach agriculture. Farmers can use the same kind of analytics to sense remotely when a wheat field has been infected with a fungus, identify that fungus accurately and deploy the right fungicide to clear the problem.
CSF: Genomics and big data offer incredible opportunities for personalised medicine, but what are the risks and challenges? How could these be avoided?
EB: Implementing too fast and not appreciating the potential consequences of things like over-diagnosis are probably the biggest risks, but implementing too slowly and just accepting the status quo are perhaps equally risky. It is always hard to bring new technologies into practice, and to know when the time is right. To deliver real change you need multi-disciplinary teams involved in both research and practice, working towards a common goal. Cambridge UK has one of the most vibrant ecosystems of academic, healthcare and commercial expertise in the world, and is well placed to deliver this change. To make it happen we need rich data sources derived from individual patients who have given their consent for researchers to analyse their data. The participation of people from all walks of life is critical to the success of this work!
CSF: As we become more reliant on computers in healthcare, where do you see the future for the medical profession?
EB: Healthcare delivery centres on people working in the medical profession, and this isn’t going to change – but new data-centric specialities will start to emerge within the profession. I see strong similarities between what’s happening now with genomics and how X-rays were received in the 19th Century, when some predicted they would radically change healthcare. Indeed, X-rays have become a key part of modern medicine, with specialist practitioners such as radiologists. But this technology has just been absorbed completely into healthcare. I predict a similar path for genomics and Big Data analysis.
CSF: What can we expect to see in the next decade?
EB: It is always hard to predict outcomes, particularly when technology keeps changing! Genomics continues to innovate very quickly, with new portable devices and ever-greater capacity to measure life at an increasingly fine level of detail. One constant is that biology – and medicine – will continue to be data-driven sciences, gathering large volumes of data. Both the practical engineering challenges and the more sophisticated analysis challenges will remain with us for the foreseeable future.
Genomics and big-data analytics are starting to have a more global reach, opening up possibilities for developing countries to potentially jump straight to portable, more efficient solutions for healthcare and agriculture. Furthermore, some of the most important challenges in healthcare, such as infectious disease, or in agriculture, such as drought management, are fundamentally global in nature, and demand global solutions. This means this research must have a more global outlook.
CSF: Do you think these technological advances need to be managed carefully?
EB: Managing a change in technology is as much about managing people and their expectations as it is about the technology itself. There are many, many more opportunities than risks, but it is also easy to overreach in the deployment or change in technology. Managing change works best when a balanced view of how technology can be used to improve society prevails.