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  1. G Fuller
  1. Gloucestershire Royal Hospital, Great Western Road, Gloucester, UK;

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    Imagine the scene: you have just seen a patient with what seems likely to be an inherited or congenital syndrome who has a combination of symptoms and signs you do not recognise and in whom standard investigations have provided no clues. What do you do? Looking in the books is very time consuming and depends on how well the books are indexed; searching PubMed or online inheritance in man (OMIM) is often difficult using just symptoms and signs. Wouldn’t it be useful if you could put the clinical information into a database to narrow down the differential diagnosis?

    This is the idea that drives, which describes itself as a “medical decision support software” that “allows doctors and other medical professionals to combine clinical and laboratory findings” and get a “simultaneous consult about diagnosis”. Registration is straightforward and this leads you to an introductory video and the opportunity to search the site. The searching is reasonably intuitive. You enter the age and sex, and then can add clinical feature and test results, either having searched for them or from an alphabetical or category based pick list. The terms used are not always what you expect, so I found myself using the alphabetical list.

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    Once you have your primary features you then go to a differential diagnosis page, with the diagnoses listed (exhaustively) in a bar graph in order of likelihood. You can then pick out the disease profile and mark other features as present or absent, which results in reordering of the differential diagnosis. Further information for each disease, such as incidence and age of onset, is easily found.

    The idea is very attractive – but does it work? The package available is “neurological syndromes”, which is described as a beta version of inherited and congenital problems. Searching simple problems highlighted the diagnoses you would first consider. When searching using details of patients with more obscure problems I found the differential diagnoses lists helpful and diagnostic possibilities that would otherwise have taken some time to consider were raised. The ability to review the features of each condition, especially rarer syndromic diagnoses, was particularly helpful. I think this search tool should lead to a more focussed approach to investigating patients with suspected metabolic or genetic syndromes.

    This site is acknowledged to be in development, and I expect this will further refine the terms used to describe the clinical picture—which do not always match the usual neurological terms—but also the relative likelihood of the differential diagnoses offered.

    I found the site useful and I will be visiting again.


    • Competing interests: none declared