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Patients of the future – part 1: diagnosis

by Misha Gajewski | Analysis

13 April 2016

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Imagine some year off in the distant future: cars drive themselves, renewable energy is our primary source of power and robots are part of our every day lives.

But those aren’t the only things that have changed. Let’s make things a bit more personal.

Imagine a typical middle-aged woman, who lives in an average-sized town, works 40 hours a week, loves watching Coronation Street and thinks a good cup of tea can cure anything… well almost anything.

Her name is Alice and so far, her life’s been uncomplicated.

Just like everyone else, when she was born, Alice had all her genes analysed. The results said she has an increased risk of bowel cancer, so she’s always been quite cautious about that, especially now that she’s almost 50.

As a result, she takes good care of herself. She exercises 3 times a week, eats a balanced diet, doesn’t smoke (almost no-one does these days) and tries not to drink too much.

And, like most people, she tracks all her health activity in an implanted monitor she’s had since turning 18. Sometimes it flashes to tell her sugar levels are low, or that she has a fever.

But today her implant flashes bright red. It’s picked up what could be signs of bowel cancer circulating in her blood and it’s enough to warrant seeing her GP.

Her device automatically makes a next-day appointment, and without even really realising it, she becomes a patient.

The following day, her GP runs a blood test to analyse her blood in more detail, examines her and asks her a range of questions about her lifestyle.

The computer in the corner of the room captures all of this via voice-recognition, and crosschecks all the data with her stored genetic data, and the latest research evidence, to make sure there hasn’t been a mistake.

Less than an hour later, the results come back. She has a small, early-stage cancer developing in her bowel.

It’s something she’s known could happen. Calmly, she texts work, letting them know that she’ll be a little late that day.

Her treatment is surgery under local anaesthetic – all carried out later that day, by a microscopic robot at her local medical centre.

She goes home with a month’s worth of medication, made by a 3D printer while she’s having her operation. The drugs are specifically designed and tailored to her cancer cells, but with minimal side effects – a little queasiness and tiredness, perhaps.

After her treatment, life goes back to normal for the most part. Her ‘implantable’ still monitors her health vitals, and she has a blood test every once in a while to make sure the cancer hasn’t come back.

A decade later, the implantable flashes red and again, Alice goes to the doctor. It’s another small tumour – an offspring of the one from last time, but with a slightly different set of faulty genes.

She has virtually the same treatment, but this time the 3D printer churns out a slightly different set of drugs.

Another afternoon off work. Life goes on.

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By today’s standards, this vision we’ve created for you might sound like nothing more than science fiction. And while there are huge challenges – practical, economic and ethical – to overcome to get there, it’s not entirely far-fetched.

The focus of healthcare has already begun to shift towards preventing people from getting sick (or sicker) rather than just treating them once they are critically ill.

This is because, as Dr Jack Kriendler, a physician and tech entrepreneur, explains: “Depending on where you go, it costs anywhere between $1,500 and $20,000 (£1,056 – £14,000) a day to be in an intensive care department. On average it’s about $5,000 (£3,500) a day for being unwell.”

But according to Dr Kriendler, if you catch and treat the person before they end up in an intensive care unit, it costs a tenth of that. That £3,500 drops to just £350.

So to adapt the old adage – prevention isn’t just better than cure – it’s also much cheaper.

On top of this, the pace of change in healthcare is – as often discussed – nothing less than dramatic.

So let’s unpick some of the ideas we talked about in Alice’s story, and see where the research and technology is at today – and how far away we are from turning science fiction into fact.

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Prevention

Personal DNA testing kits are already available to the public and, although these still have some pretty big flaws (as we’ve discussed before), they will undoubtedly become more sophisticated as the research in this area continues. Today’s kits only look at a tiny percentage of your DNA code. In the future, as the cost of so-called ‘whole genome’ analysis plummets, they’ll look at much more.

We are also seeing the machines that do these analyses – called DNA sequencers – becoming fully scalable, like the MinIon, a portable next-generation sequencing machine highlighted at last year’s Wired Health conference. “You can run it anywhere on anything!” MinIon’s founder, Clive Brown told the audience at the time. This allows it to be used for a variety of applications, such as, identifying species in the rainforest and field-testing epidemics such as Ebola and doesn’t limit testing to a lab.

Brown has predicted that DNA sequencers will eventually become small enough to be embedded in your toothbrush. So finding out what is lurking within your DNA might be as simple as brushing your teeth.

And as Dr James Hadfield, head of Cancer Research UK’s genomics lab at Cambridge University, puts forward: “The hope is that the cost gets to a point that [anyone] can consider sequencing their own genomes, probably via their GPs; and that the data is easily interpreted to allow it to inform medical decisions.”

But we’re not there yet. While the price of sequencing is dropping rapidly, there are several hurdles – practical, scientific and ethical – to clear, so it will be a while before it’s available to people, like Alice, routinely on the NHS.

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Now what about Alice’s 24/7 health monitoring device? How far away is this?

Basic round-the-clock health monitoring is already here, thanks to wearable technology and smart-watches. However, the data they generate is relatively simple – heart rate, minutes of activity, and so on.

And while the UK’s health secretary, Jeremy Hunt wants these data to be available to GPs, how soon that will happen is another story.

But technology is getting more advanced, and could soon have the capability to do more than just help individuals manage their health. Data collected about your day-to-day health might be used to find early warning signs of illnesses.

For example, one device by Quanttus, a medical technology start-up, is using a wristband with sensors in it to measure blood pressure.

The device collects over 50 million unique data points and over 400,000 vital sign measurements per person per day.

It’s undergoing trials at Massachusetts General Hospital in Boston, and the company says this has already come up with some useful data, tentatively suggesting that blood pressure that fails to dip when one is asleep could be an early warning sign of cardiovascular disease.

“This new data has the potential to create insights not just for users but for physicians and practitioners,” said Sahid Azim, the founder of Quanttus, at Wired Health 2015 conference.

And this technology is getting more sophisticated.

According to Gadi Amit, the designer behind the popular wearable device Fitbit, implantable health monitors will be the next big thing.

He’s working on a device that can be embedded underneath the skin and can measure a range of body metrics from heart rate to glucose levels. If anything is out of whack, it will notify you using signals that are personal and meaningful to you. According to Amit this device could be ready – commercially, at least – in as little as five years.

While none of these devices direct prevent cancer, we know that four in 10 cases of cancer can be prevented by lifestyle changes. So, in theory, if those devices monitor one’s lifestyle changes with enough depth and accuracy they could help someone keep their ‘optimal health level’ and help prevent cancer.

Of course, before any of this can become a reality, the NHS will need a fully functional electronic records system to allow personal data to feed in, and be reliably, safely, and responsibly shared. And despite recent progress, with practical and ethical hurdles to clear that’s still long way away.

Diagnosis

While lifestyle-tracking devices could one day help prevent cancer, technology that could help detect it earlier is also crucial.

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The faecal occult blood (FOB) test is paper-based and comes with instructions on how to collect a stool sample, and a freepost envelope.

Screening kits, such as the faecal occult blood test (FOBt) used by the NHS bowel cancer screening programme, can already be used in the comfort of one’s own home. While these kits aren’t perfect, advances in screening, including new screening tests like the faecal immunochemical test, or bowel scope, could help address some of the imperfections.

But using technology to make screening easier might also help overcome some of the barriers for people wanting to take part in screening, and could even mean you wouldn’t need to wait – you could get the results right then and there on, say, a smartphone.

Again, while this may seem far-fetched, away from the field of cancer, researchers are already developing an at-home STD test kit that allows you to put a saliva or urine sample on a USB-like stick and hook it up to your mobile phone, with the aim of providing you with a diagnosis in minutes. Could this idea be extended to create cancer-screening tests linked up to mobile phone technology? First, we’d need to find the right molecules to test for – a tricky challenge for a disease as complex as cancer. And any ‘test’ would need to be proven to be accurate and effective, while minimising the harms that are linked to screening, like false positives and overdiagnosis.

This is a big issue. Some companies are already selling ‘detection apps’ that let you take pictures of worrisome moles or blemishes, and purport to tell you if it’s skin cancer or not. But these apps are currently sketchy at best. Thankfully, imaging technology is getting more advanced, and the underlying software more complex, so while diagnosing skin cancer from a ‘selfie’ isn’t possible yet, it isn’t a completely far-fetched idea.

But these ideas focus on specific cancers. Many people dream of a universal monitor that could pick up signs of any cancer, much like Alice’s flashing implanted device.

While it may be just a dream at the moment, research is helping us to inch closer to this as a reality, and is something that, via our recent research strategy, we’re prioritising. For example by collaborating with the Knight Cancer Institute in the US, and as part of our £100m Grand Challenge.

But we’re far from the only ones working on the problem: companies like Google have stated their intention to develop a ‘cancer-detecting wristband’ that would use ‘disease detecting nanoparticles’ to pick up early signs of cancer in the blood. But this still remains incredibly far off, as we wrote about here when Google first announced the idea.

Another area where there is a great deal of excitement is in so-called ‘liquid biopsies’, which aim to monitor cancer by looking for tumour cells or DNA that are floating in blood or other bodily fluids – something several of our researchers are working hard on.

It’s also the focus of, GRAIL, a new venture from gene tech company Illumina, which made headlines earlier this year. GRAIL hopes to use a blood sample to detect cancer in people before they show symptoms.

“We hope today is a turning point in the war on cancer,” Jay Flatley, Illumina chief executive officer and chairman of the board of GRAIL, said when the company was launched. “By enabling the early detection of cancer in asymptomatic individuals through a simple blood screen, we aim to massively decrease cancer mortality by detecting the disease at a curable stage.”

And GRAIL isn’t the only one taking a crack at a ‘simple blood test’ for cancer. The market for such a test is enormous. A 2015 report by an American investment bank estimated it to be around $29 billion (£20 billion) in the US alone.

As a result, many researchers are throwing their hat in the ring and are being given a massive amount of money to assist their efforts. So it’s only a matter of time before we begin to see results. Granted, as we’ve said many times before, there are many obstacles to solve before this is something offered in GP surgeries – not least solving the tricky issue of identifying which cancers need treating, and which don’t. And there are big ethical issues around offering widespread medical tests to the general population.

But as well as understanding the underlying biology to make tests accurate and reliable, to make any meaningful diagnoses you also need something to crunch all the data and work out the numbers – in particular, the likelihood of different diseases being linked to different sets of symptoms.

This is where super computers, like IBM’s Watson, which is helping doctors diagnose patients at Memorial Sloan Kettering Cancer Centre in New York, come in.

Watson is a computer that does something called ‘cognitive computing’, pulling in a wealth of information, such as what symptoms you’ve said you’re experiencing, data from your wearable, recent blood screen, information about your genes as well as your previous medical history. Then it combines and compares this with a wide array of data from previous literature, and past medical cases. and by using algorithms it can process this information to try to come up with the most logical diagnosis.

Watson is still in early development stage and still needs human guidance, but as the computer gets more sophisticated it may one day equal – or even surpass – a doctor’s ability to diagnose and recommend treatments.

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So while we’re a way from Alice’s cancer-detecting, GP-notifying, ‘implantable’, there’s a lot of technology and research that’s trying to get us there.

But all of these ideas are still in the very early stages of research and will need to be thoroughly evaluated and proven to be effective and reliable, and will also need to get approval by medical regulatory bodies such as NICE (we’ll talk more about this later) – so we’re still a way off for now.

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Of course this isn’t the end of the story.

However many cancers are prevented by technology in future, some people will still be diagnosed. And whatever method, be it blood test, nanoparticle wristband or supercomputer algorithm, is used to make this diagnosis, many patients will need some form of treatment.

In part 2 of this post, we’ll look ahead to how Alice’s all-in-one-day treatment, featuring microscopic robots and 3D printed drugs, might one day be a reality.

Misha