Rare and common at the same time

Rare and common at the same time

One of the big problems in medicine is patients with rare diseases who go from doctor to doctor in search of a diagnosis, being misdiagnosed or not diagnosed along the way, receiving treatments that are useless or harmful, and meanwhile suffering or even succumbing. It must be costly from the payer standpoint as well. An individual doctor may never see a specific rare disease even in many years of practice, and may not even know what symptoms to look for.

I have a hunch that when we look back 20 years from now, one of the major benefits of the transformation of health care from paper to electronic will be that patients with rare diseases are diagnosed much more promptly and accurately. I don’t have a lot of data to support that contention, but I’m working on it. Here’s something from the European Commission:

It is estimated that between 5 000 and 8 000 distinct rare diseases exist today, affecting between 6% and 8% of the population in total – in other words, between 27 and 36 million people in the European Union.

Rare diseases are defined as those with a prevalence below 1 in 2000, which amounts to 228,000 persons in the EU. It’s almost identical to the US definition of an orphan disease.

So how will electronic records help? The main way is by coupling the electronic record with clinical decision support tools that are specifically focused on rare diseases. They can analyze data from the patient record to provide differential diagnoses and suggest what data to collect in order to narrow the differential. Tools like this can help generalists and can even surpass their creators by drawing inferences that are too complex to juggle in one’s head. The parallel from the industrial world is the reduction or elimination of rework. A small first-pass defect rate can drive up costs considerably by causing rework. It’s much the same here except we are dealing with people, not widgets!

My favorite, early example of such a tool is SimulConsult (which I’ve mentioned before). It’s run by pediatric neurologist Mickey Segal and is available free of charge to physicians. Check it out.

April 24, 2006

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