When will we express ourselves?

Let me tell you why I am wearing a bracelet and why I am contributing to one of the biggest challenges of a nascent industry…

Let me tell you why I am wearing a bracelet and why I am contributing to one of the biggest challenges of a nascent industry…

And why that industry is going to be one of the biggest you will ever see.

First, the bracelet…

I’d like to tell you that it is gold encrusted with diamonds. I am not too old for a bit of bling. If you’ve got it, flaunt it, I say.

But this bracelet is not going to get me noticed. It is just a band of black rubber, like a cheap watch only where the face should be there is just…well, more black rubber. Pretty it ain’t, but it is getting to know me quite well.

The data of discovery

This wristband was sent to me by the UK Biobank. The UK Biobank, run here in Oxford by Professor Sir Rory Collins, wants to know all about me. In fact it wants to know all about 500,000 middle-aged people of whom I am just one.

It wants to know my state of health. It wants to know how I live my life, the usual questions about how much I smoke (none) and how much I drink (OK, just a little). It wants to know my genetic make-up, and so I have supplied it with a saliva sample from which it can extract my DNA.

And it wants to know whether I am active or slothful which is why, for just for this week, I am wearing the UK Biobank wristband. This is like a FitBit. It knows when I am lying down (after lunch), it knows when I am walking about (on the golf course) and when I am standing still (when my wife is demanding to know why I play so much golf).

All of this information about my physical activity, although not of course the reasons for it, are being detected by the sensors in this wristband. At the end of the week, I will send it back to an address in Cardiff, where all the encoded information will be poured into the already vast pot of data accumulated by the UK Biobank.

The UK Biobank wants to discover what makes us healthy or ill. What causes some of us to contract diabetes or cancer, or collapse of a heart attack, when Archie, my grandmother’s odd-job man smoked like a chimney but was still going strong in his nineties.

Conceptually, genetics is simple. We are born with a set of genes inherited from our parents. These predispose us to having blue eyes or brown hair, features that we can see as soon as we emerge from the womb. They predispose us to being short or tall, fast or slow, bright or not so bright.

They predispose us to contracting cancer, diabetes or heart disease.
But as you will have spotted these latter problems do not appear until later in life, and by that time all sorts of things will have interfered with these genetic instructions, a bit like all the bugs that eventually cause your computer to crash.

What you eat and drink, the exercise you take, the stress you endure, the sleep you miss – all of these things will not necessarily change your genes but they will determine whether or not they are ‘expressed’ – meaning whether they alter the cell functions that make us who we are.

Introducing: your cyborg doctor

The UK Biobank is collecting a mass of data, but it is just one of many such projects underway around the world and it is by no means the largest.

They are all gathering much the same information. The stuff about how we lead our lives is easy enough, assuming we don’t lie to the on-line questionnaire, and assuming we wear our wrist monitor and remember to send it back.

The health records are tougher. It is only recently that doctors have stopped writing up their notes in their famously bad handwriting and creating electronic records. And these are far from ideal. Two doctors do not necessarily record the same diagnosis and two hospitals might not use the same record-keeping software.

But the biggest challenge of all is the genetic data. Your genome consists of three billion pairs of nucleotides – cytosine (C), thymine (T), adenine (A), guanine (G). So that is six billion letters in all, to be read by DNA sequencers. That is a lot of data, but it isn’t half of it…

Such is the inaccuracy of sequencing that each genome is processed several times over to iron out any discrepancies. Sequencing a single human genome typically produces 200 gigabytes of data, and in case that means nothing to you a single gigabyte lets you send 1,000 emails and browse the Internet for about 20 hours or enables you to watch 70 music videos on YouTube.

To date, less than about one million human genomes have been sequenced, but such are the advances in technology, in particular the move from exome sequencing (which just looks at sections of the genome) to Whole Genome Sequencing (which looks at all of it) that this number is increasing fast.

In fact, the number of bases in a data bank hosted by the USA’s National Center for Biotechnology Information has been doubling in size every 18 months.  By 2025, anything from 100 million to 2 billion human genomes, depending on which forecasts you believe, will have been sequenced.

Health, you see, is fast becoming a data crunching business. Doctors like to think that their training and years of experience inform their instincts and allow them to get things right. But like it or not, they make a lot of mistakes…

The wrong medicines get prescribed, treatments are given that are not merely unnecessary, but actually make matters worse. In short, doctors are only human and as in other walks of life they are going to be replaced, or at the very least, supplemented by machines.

This future is captured by the headline ‘The Computer Will See You Now.’ But what will the computer know that the doctor, with all his or her years of training will not know? Well, it will be informed by all of that data. Analysis of the data will say that patients with this medical history, thislifestyle and these symptoms are most likely to benefit from thismedication.

It is no longer a matter of medical opinion, it is a simply a matter of what works. People will be told that their genome gives them an increased likelihood of getting heart disease – so they can take steps (literally!) to ward it off.

Drug companies, keen to score approval for new drugs, will pick for trials only those patients that are statistically most likely to have a favourable response.

And prospective parents, they will be told whether their own genes impose specific risks upon the health of their babies.

This is the future of medicine. It is a future in which prevention is better than cure, in which treatment is ‘personalised’ for the patient, and in which new medicines target the underlying genetic causes of disease.

To the Nebula and beyond

But here is the point. It all depends upon data, and the more the better.

The greater the number of genomes we sequence, the greater the number of patients we track. The greater the volume of information that we gather from health records and medical trials, the greater is the likelihood of teasing out the true causes of disease and the best way of treating them.

It is all about data and its collaborative use. The UK Biobank, as I said, is just one of several data gathering projects. But a US outfit called Nebula Genomics is now proposing something on a grander scale. It wants you and I to contribute our genomes into one vast pot.  It wants to cut out middlemen like 23andMe, which have commercial motives, and allow only genuine researchers to access the data.

The ‘Nebula Economy’ will be lubricated by Nebula tokens, a sort of genomic Bitcoin. We will receive Nebula tokens for contributing our genomic data, which we can use, if we wish, to have our DNA analysed.

Nebula is one big, voluntary, non-profit making vision, in which information is shared for the common good and a virtuous circle is created as the build-up of data and information leads to more accurate analysis.

This is not a medical challenge but a big data challenge. Can we cope?

The Nebula economy requires secure encryption and advanced computing. Network transfer speeds will limit data sharing, warns Nebula. Processing and analysis of genomic data is projected to take trillions of computing hours, and the project is going to add to the already massive pressure on data storage.

This requirement for data crunching is why the giants of the data world, IBM, Amazon, HP, Google and others are taking more than a passing interest. The promise of genomics is why the share price of the world’s biggest DNA cruncher, China’s BGI Genomics, has increased twelve-fold since its stock market debut last July.

Seen as though medicine is becoming increasingly about genomics, I have dedicated the last five years to being on the case in my Breakthrough Biotech Alert – and have recently tipped the world leader in genome sequencing.

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