Playing House: How IBM's Watson is helping doctors diagnose the most rare and elusive illnesses

Marburg Hospital's Centre for the Rare and Undiagnosed Diseases is using the cognitive computing system to solve some of the most complex medical cases.

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IBM's Watson system will help doctors diagnose rare illness faster by scanning through huge medical records to pull out relevant information.

Image: Mark Levant, Getty Images/iStockphoto

"We don't need more physicians, we need more IT power."

It's a controversial statement for anyone with an interest in healthcare to make, let alone for a senior doctor heading up a centre for rare and undiagnosed diseases. But Dr Jürgen Schäfer, in charge of tackling the most mysterious conditions that arrive at the centre in the University Hospital in the German town of Marburg, is used to solving seemingly intractable problems.

But now, rather than identifying the illnesses that have baffled numerous doctors before him, Schäfer - sometimes called the German 'Dr House' -- has worked out how to crack another tricky medical problem: how to treat a spiralling number of patients, each with a lengthy and complex health history, without employing a whole new team of doctors.

The answer, it turns out, is IBM's cognitive computing system. Not long after its headline-making Jeopardy! win, Big Blue began retooling Watson for the healthcare industry, and it's since been put to work on a number of healthcare applications, from cancer diagnosis to diabetes analytics.

Now, Marburg's Centre for Rare and Undiagnosed Diseases have begun examining if Watson has a role to play in helping identify conditions that doctors may only come across once in their careers.

Typically, the patients arriving at the centre may turn up with inch-thick medical records replete with unstructured data -- X-rays, lab results, doctors' notes, scans, and more -- and have already passed through the hands of tens of medical professionals before reaching Marburg. It could take the centre's doctors days to trawl through such records, trying to digest all the information they contain in order to arrive at a diagnosis.

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"Once patients show up [at the centre], they are highly complex to get a handle on and we are busy for a couple of days just reviewing the paperwork," Schäfer said. "It is clear to us that either we keep that old way of huge amounts of information on paper and work through it for days and days or weeks, or we set up a new system, where IT support screens the findings and gets out the information."

The aim in future is to feed all that information into Watson, and let the system crunch the data before arriving at a differential diagnosis -- a list of potential illnesses that all fit the patient's symptoms -- which will be handed to human medical staff to work out which of those conditions the patient has. And, if Watson spots a seemingly anomalous result amongst all the data, it can highlight it so that doctors can follow it up (or disregard it and carry out the test again).

While Watson could theoretically aid further in the diagnosis by weighting each of the illnesses that make up the differential diagnosis according to their likelihood, Schäfer says there may be pitfalls to such an approach.

"We are currently discussing if we are going to use this, but this is a risky thing: that if you say this or that is the most likely [condition the patient has], you will focus on this first. But that doesn't help the patient if he is the one percent of patients that have the other [condition]. We need to be sure that if Watson would supply the likelihood, there is a concern that at the end the physician gives up thinking. 'It's 90 percent that it's a myocardial infarction, that's good enough," but if it's a one percent chance that it's an aortic dissection, which is also a deadly disease, you take the risk that no one thinks about this. We are discussing currently if we want to use this feature."

The centre aims to take the Watson system live over the coming months. To help facilitate its diagnoses, the centre will introduce a 1,200-question digital questionnaire that patients fill in. The information they give will be fed into the IBM system to give it an extra insight into factors that could affect the diagnosis, from their symptoms and family history, to the environment they live in, and their jobs. The data will be anonymised before being fed into the IBM Bluemix cloud for processing. Watson will also be able to translate the information provided from German to English to cross reference it against medical information in the language. In future, the system may also be used to make suggestions of further tests that could be carried out to pinpoint the diagnosis by ruling in or out certain conditions.

Currently, the system is being tested retrospectively on patients who have already visited the clinic and had their conditions identified to see how it fares.

The pilot will last for 12 months and if it proves successful it could be rolled out further across the five sites that Rhön Klinikum owns -- including the University Hospital, the healthcare provider is responsible for 5,300 beds -- in fields potentially including neurology, oncology, or emergency care.

"In the long run we are going to apply this in the emergency rooms or the admissions office of all our hospitals, so if patients would show up with certain complaints, there would be maybe 20 or 30 questions that could be answered very quickly to find if they have a life-threatening illness -- do they have shortness of breath, or chest pain, or being unconscious? With this information, in the emergency room, the door would be wide open... if they have chest pain or the signs of a stroke, once we have this information, the system could trigger and page the cardiologist or the neurologist and the radiologist to clear the CT so there are no time lags with these highly critical patients."

Potentially, such remotely managed IT systems could be used as a starting point for the treatment of patients from remote areas where medical personnel are few and far between, or locations that don't have the right specialist for their conditions. Schäfer maintains however that IT systems are a support for highly-trained, enthusiastic physicians, not a replacement for them.

"We have more than 6,000 patients on our waiting lists, and we are a rather small centre. We work very long hours. I would say I don't need many more physicians, we need more sophisticated IT support to get a hand on these very special issues. I would never say we don't need any physicians, but I would say where there are things that we can replace these days with technology, we should replace it," Schäfer said.

"We wouldn't say Watson is better than a physician, we would say Watson is a good help for us, but we are in charge at the end of the day. We have to take care of our patients."

Read more about IBM Watson

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