DYSCERNE’s Dysmorphology Diagnostic System (DDS)- Results from the Spring pilot

One of the aims of the DYSCERNE project is to establish a web-based electronic diagnostic system for dysmorphology (DDS) enabling clinicians to submit ‘difficult to diagnose’ cases electronically to an expert panel for review and diagnosis.

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Prior to the full launch of the DDS, we ran a pilot. The pilot ran for four months and involved seven centres (Istanbul, Leuven, Manchester, Marseille, Nijmegen, San Giovanni Rotundo & Warsaw,) submitting up to five cases each, for review by the DDS panel of expert reviewers.

A total of 23 cases were submitted by six of the seven pilot centres. Of these 20 (87) were accepted on to the system for review by the expert panel. The average number of expert reviews per case was 5.4, with eight cases having 6-10 reviews. The discussion forums proved a popular feature of the system and were opened for 15 of the 20 accepted cases (75).

Summary reports of the expert opinions received for each case were prepared an average of six weeks after acceptance, depending on the timing and number of reviews, with 80% completed within eight weeks.

For the 16 cases for which summary reports have been prepared:

· 100% had diagnoses suggested with an average of 2.6 diagnoses per case (Fig 2)

· 100% had further investigations recommended with 15 cases (94%) having either a molecular or cytogenetic test suggested.

· 100% of cases were described as complex phenotypes with combinations of dysmorphic features, varying congenital abnormalities affecting different body systems and a range of neurocognitive disabilities.

Feedback on one case has already confirmed a suggested DDS diagnosis at the molecular level (Coffin-Lowry Syndrome with a RSK2 mutation). A further case on the system is a possible new recessive condition which should be published in the near future as a case report. These early promising results, coupled with positive feedback from the pilot participants, indicate that the DDS is an effective diagnostic system.

The full launch of the DDS system is scheduled for late Spring 2009, when more than 70 submitting centres from 30 different countries will be able to submit their difficult to diagnose cases to the system,

If you would like more information on the DYSCERNE Network and on-line diagnostic service, visit our website at www.dyscerne.org or contact Pam Griffiths Project Manager.