S Gardner

Dysmorphology at a distance: results of a web-based diagnostic service.

In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

The DYSCERNE Network of Centres of Expertise for dysmorphology (http://www.dyscerne.org), is developing clinical management guidelines for Williams (WS), Angelman (AS), Noonan (NS) and Kabuki (KS) syndromes. An initial scoping exercise identified these conditions as rare, complex, multi-system disorders, for which it was felt that affected patients, families and health/social care professionals would benefit from access to up-to-date evidence based management guidelines. Published evidence from which to develop management recommendations for these conditions is very limited, and devising a systematic and robust methodology has been challenging. Our approach is based on the Scottish Intercollegiate Guidelines Network (SIGN) method, which we modified placing more emphasis on expert opinion and consensus, whilst maintaining systematic rigour and transparency of processes. The development process includes: - Identification of key management issues by guideline group leaders. - Targeted, systematic literature searches using PubMed. - Review, identification and grading of results by panel of invited experts. - Consensus meetings at which experts present, discuss and agree recommendations. - Initial drafting of guideline document which is circulated amongst experts and stakeholders for comments. - Amendments incorporated and guidelines finalised. - Guidelines piloted and evaluated. - International dissemination. The process has involved 49 experts from 8 countries reviewing between them, over 1000 papers. The WS guidelines are currently being piloted in 20 centres, by paediatricians and geneticists. The first draft of AS guidelines has been circulated for feedback. Consensus meetings for NS and KS will be held very shortly. The finished guidelines will be available from the DYSCERNE website.