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Where Will Healthcare’s Data Scientists Find The Rich Phenotypic Data They Need?

The big hairy audacious goal of most every data scientist I know in healthcare is what you might call the Integrated Medical Record, or IMR, a dataset that combines detailed genetic data and rich phenotypic information, including both clinical and “real-world” (or, perhaps, “dynamic”) phenotypic data (the sort you might get from wearables).

 

The gold standard for clinical phenotyping are academic clinical studies (like ALLHAT and the Dallas Heart Study).  These studies are typically focused on a disease category (e.g. cardiovascular), and the clinical phenotyping on these subjects – at least around the areas of scientific interest — is generally superb.  The studies themselves can be enormous, are often multi-institutional, and typically create a database that’s independent of the hospital’s medical record.

 

 

Inevitably, large, prospective studies can take many years to complete.  In addition, there’s generally not much real world/dynamic measurement.

 

 

The other obvious source for phenotypic data is the electronic medical record (EMR).  The logic is simple: every patient has a medical record, and increasingly, especially in hospital systems, this is electronic – i.e. an EMR.  EMRs (examples include Epic and Cerner) generally contain lab values, test reports, provider notes, and medication and problem lists.  In theory, this should offer a broad, rich, and immediately available source of data for medical discovery.

 

 

DIY (enabled by companies such as PatientsLikeMe) represents another approach to phenotyping, and allows patients to share data with other members of the community.  The obvious advantages here include the breadth and richness of data associated with what can be an unfiltered patient perspective – to say nothing of the benefit of patient empowerment.  An important limitation is that the quality and consistency of the data is obviously highly dependent upon the individuals posting the information.

 

Pharma clinical trials would seem to represent another useful opportunity for phenotyping, given the focus on specific conditions and the rigorous attention to process and detail characteristic of pharmaceutical studies.  However, pharma studies tend to be extremely focused, and companies are typically reluctant to expand protocols to pursue exploratory endpoints if there’s any chance this will diminish recruitment or adversely impact the development of the drug.

 more at http://www.forbes.com/sites/davidshaywitz/2014/10/10/where-will-healthcares-data-scientists-find-the-rich-phenotypic-data-they-need/ ;

Source: www.forbes.com

See on Scoop.itCuriosopernatura

Should we diagnose rare diseases with smartphones?

An object in your pocket could help diagnose rare diseases like Ebola, finds David Robson – and one day it might even replace the doctor’s surgery too.

 

As fear of the Ebola virus escalates, Eric Topol thinks that we’re missing an important weapon. And you just need to reach into your pocket to find it. “Most communicable diseases can be diagnosed with a smartphone,” he says. “Rather than putting people into quarantine for three weeks – how about seeing if they harbour it in their blood?” A quicker response could also help prevent mistakes, such as the patient in Dallas who was sent home from hospital with a high fever, only to later die from the infection.

 

It’s a provocative claim, but Topol is not shy about calling for a revolution in the way we deal with Ebola – or any other health issue for that matter. A professor of genomics at the Scripps Research Institute in California, his last book heralded “the creative destruction of medicine” through new technology. Smartphones are already helping to do away with many of the least pleasant aspects of sickness – including the long hospital visits and agonising wait for treatment. An easier way to diagnose Ebola is just one example of these sweeping changes.

 

So far, however, few doctors have embraced these possibilities.  “The medical cocoon has not allowed a digital invasion,” says Topol, “while the rest of the world has already assimilated the digital revolution into its day-to-day life.” That’s not due to lack of demand: many patients are already monitoring their health through their phone, with apps that check your skin for cancer from a selfie, for example. These programs are not alwaysdesigned with the accuracy most doctors would require, however – and some fear that by missing a diagnosis and offering a false sense of security, they could cost lives. “The slower the healthcare system is in exploring these things, the more people are at risk by doing the exploration on their own,” says Estrin.

 

 

more at : http://www.bbc.com/future/story/20141017-the-ebola-detector-in-your-pocket

 

Source: www.bbc.com

See on Scoop.itCuriosopernatura

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