Oxford Medical Databases

Abstract

The London Dysmorphology Database has been my favorite syndromology search program for many years, but I have never found it particularly easy to use. When I have been away from it for a few weeks, I always seem to forget exactly which key to push to make it do what I want. I was, therefore, anxious to tear open the shrink-wrap on this new Windows® implementation to see if my old friend was now friendlier.The version of Oxford Medical Databases (OMD) that I tested includes two CD-ROMs and a brief (and not particularly useful) manual. One CD-ROM contains the London Dysmorphology Database and the London Neurogenetics Database. The other CD-ROM includes >5,000 clinical photographs and radiographs that constitute the Photo Library, a component that is essential for any clinical geneticist but that must be purchased at additional cost.The minimum system requirements are an industry-standard personal computer with an 80486 DX33 or better CPU running Windows 3.1® or Windows 95®, 4 MB of RAM (8 MB is highly recommended), 83 MB of hard-disk space, a VGA monitor (SVGA is highly recommended), a mouse, and a CD-ROM drive. The program installed easily on my machine, a 133-Mhz Pentium® with 16 MB of RAM and Windows 95®. OMD generally behaved well, although it interferes with some DOS programs that are loaded after it.The new version acts pretty much as a Windows program should. This means that a user who is familiar with Windows but has never seen OMD before can do searches and print the resulting diagnosis lists, narrative summaries (“abstracts”), and references without consulting the manual or the on-line help. The printouts are nicely formatted, and one can modify their appearance as well as their contents. Abstracts and individual references (but not feature lists or reference lists) can be copied into other documents by means of the Windows clipboard; photos cannot be printed or copied.Version 2.0 of OMD does not do anything that the previous DOS versions did not do, but everything is easier now that it was before. The interface is much more attractive, and I found some of the innovations to be very useful. For example, the keyword search includes simple check boxes for microdeletions, disomy, and mosaicism as well as for Mendelian patterns of inheritance. Tiny thumbnail photos adjacent to the syndrome abstract can be clicked to display full-size pictures of particular features.The contents of the databases are unchanged from earlier versions, except for the addition of new information. OMD includes an abstract, a list of reported features in the standardized language of the database, and an extensive bibliography for each syndrome. The London Dysmorphology Database has >2,800 different syndromes, and the London Neurogenetics Database has >2,600, although there is much overlap between the two. Neither database includes chromosomal abnormalities, except for the microdeletion syndromes and some of the uniparental-disomy and chromosomal-mosaicism phenotypes. However, Oxford University Press also distributes Albert Schinzel's Human Cytogenetics Database, a companion product that provides similar information on phenotypes associated with constitutional chromosomal abnormalities.The information in OMD is quite current to the time of publication. There are many references from 1995 included, and there are some from 1996 as well. In fact, the contents seem more up to date than the software. Although this version is well implemented in Windows, the system cries out for hypertext links to the World Wide Web. OMD would be much more powerful if the McKusick numbers were linked to OMIM and if the gene locations were linked to the human gene maps and the human/mouse homology database. Automatic updating of OMD over the Internet would also be a welcome addition.Will OMD replace the clinical geneticist? I doubt it. The London Dysmorphology Database is an important diagnostic aid, much like a radiograph or an electrocardiogram. The nonspecialist can obtain useful information from such aids, but they are most valuable in the hands of the specialist. Considerable skill is required to formulate an effective search in OMD, and the clinical geneticist, who knows many genetic syndromes by name, can weed through a list of possible diagnoses much more quickly than someone who is not familiar with most of these conditions. Moreover, the clinical geneticist is trained to recognize differences in gestalt that distinguish between conditions with similar lists of phenotypic features. The OMD's Photo Library is of considerable assistance for this purpose.The Oxford Medical Databases remain a valuable diagnostic tool for clinical geneticists and a convenient source of current bibliographic information on dysmorphic syndromes. The improvements in version 2.0's interface make it much easier to use than its predecessors. Information technology is advancing as rapidly as genetics, however, and the next version of OMD should be even better.