Posts by Charles Shaw-Smith

My vision for Clinical Genetics database software; or, why can’t paperlessclinicalgenetics be more like an iPhone?

I well remember Steve Jobs holding up the new iPhone in front of his adoring audience in January, 2007.  The presentation he gave is a masterpiece and well worth another look.  The iPhone is a masterpiece too, and also worth another look:  A big part of the design genius, IMHO, is the fact that no matter which application you wish to use, the way of accessing it is always the same.  You locate the icon; tap on it with your finger; and internet, email, texting, photos, notes apps, calculators, iPods, calendars, weather forecasts, angry birds or whatever open up before you. What could
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Pedigree-drawing software in the clinic. No mice. No keyboards.

This blog post is aimed at the lovely people who make software and databases for use by Clinical Geneticists,  though of course all interested parties are welcome to read and comment.A current vision for processes in Clinical Genetics, not yet fully realised, is the replacement of the patient’s paper file with a digital substitute. Arguably the biggest barrier to the full implementation of this vision is the pedigree. All Clinical Genetics files have a pedigree, this being the thing around which our specialty revolves. Just to break up the text and for the uninitiated, here is one: The circles are females, the
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