We are about to experience revolutionary changes in the application of genome sequencing to treating disease, according to Daniel Crowley, founder and acting CEO with Genomics Medicine Ireland. “There is a revolution happening, and you haven’t necessarily seen the real start of it yet. We are an Irish life sciences company working at the leading edge of not just biology but also computational sciences.” He makes the point that we have seen and experienced the computer revolution in the last two, three, four decades but we haven’t been able to see the genetics revolution. “You have heard of DNA, but you haven’t seen its applications, and those applications are coming through data and computations.”

Dawn of the computer era in the 1970s

Crowley puts it in a historical context. “Think of the 19th century development of amazing platform technologies like electricity. Think of the dawn of the computer era in the 1970s. "In both cases these technologies were talked about and developed for a long time before they really hit the world. They were known about in labs and talked about by specialists and in newspapers. It takes a long time for these technologies to hit the real world but that’s happening now with genetics. “One of the things that has become scientifically obvious in the past few decades is that probably most diseases that are hard or impossible to treat and have a really profound effect on people’s lives are genetic in origin. “For example, Crohn’s disease and multiple sclerosis are very serious conditions. We know now that if a first-degree relative suffers from such a condition you are more likely to have it yourself. We can see that evidence in the genes directly. “Genes are information. DNA is an information storing and computational device – just one that is designed by evolution rather than humans."

‘Ireland is an amazing place to do genetic research’

For Crowley, Ireland is an amazing place to do genetic research. “There are characteristics of the population in Ireland, particularly population homogeneity, that give us an amazing signal-to-noise ratio when you are trying to discover those genetic features that are causative or associated with disease. “Our goal in the next several years is to profile the DNA of 20 per cent of the Irish population. There are some amazing big data challenges associated with this. We are looking at upwards of 200 petabytes of data that we have to collect and manage. “One thing that I think is that if you look at how technology has evolved, even to dramatically simplify, you can look at the 19th century as being focused on the automation of machinery – looms, steam engines, stuff made of metal. The 20th century was focused on the automation of information. There is plenty of evidence that the 21st century will be about the automation of biology,” he predicts.

On the cusp of a technological takeoff

Crowley sees genomics as being in about the same place as processors in around 1970. He pointed out that if he is right, it means that we are right on the cusp of an incredible takeoff of this technology. “The first human genome was sequenced less than 20 years ago at the cost of several billion dollars. "A little bit more than 10 years later we had got to a thousand genomes. Right now that figure is in the order of around a million genomes. So we are seeing a very clear exponential curve – one that is highly reminiscent of Moore’s Law. “In fact, by several measures it’s faster than Moore’s Law. If you extend that out to 2025 you can see that it’s not going to be that long before we are in the region of a billion genomes. Once you get to that level you are not too far off being able to eventually sequence every single person on the planet,” he said.

The cost of sequencing

The cost of sequencing an individual’s DNA is falling equally rapidly. Crowley explained that "over the course of a little bit more than 15 years it has gone from several billion dollars to sequence a single genome to a couple of thousand dollars. Very soon it’s going to be consumer-grade. We already see services like 23andMe, which is not doing full-genome but is still doing really interesting genetic profiling. “If you extrapolate out from the trends that we see today, health data, and particularly genetic data, are going to be an absolutely massive part of the consumer data landscape", according to Crowley. He did the calculations: one person’s genome and associated data adds up to a terabyte of data. Multiply that by one billion – and he expects that to happen within about 10 years - that adds up to about a thousand YouTubes of data. But that’s not all, as he explained: “One YouTube is pretty significant today so we have some amazing technical opportunities and challenges there. And that’s only the start of it. There is very, very deep data associated with this that goes beyond even the whole genome.”

Questioning the nature of disease

But Genomics Medicine Ireland is not doing big data just for the sake of it. “When you start to think about disease and humanity at a genetic level, it forces you to question what is a disease, what do we mean by medicine, and even what is a human being. I think that this type of thing is going to change the structure of how medicine and healthcare are delivered,” claimed Crowley. He gives an example: “Take three diseases which have historically been considered completely separate – psoriasis, Crohn’s disease and multiple sclerosis. You see a different consultant for each of these but if we look at them genetically there is an awful lot of evidence that these are pretty much all the same disease actually. "Or to put it more accurately, every person living with one of these conditions has a different disease that’s on a shared genetic spectrum. How do we know this? Computer science – large-scale algorithmic analysis, large-scale data management – the application of AI technology to biology. That’s what the future of biology is going to be over the course of this century. “Moore’s Law of biology has been here for several decades. This is going to affect every single person on the planet over the course of the next several decades,” he said, confidently. Genomics Medicine Ireland is working with tens of thousands of volunteers across Ireland, many of whom have a direct personal interest in improving treatment for diseases. They are currently running numerous volunteer programmes.