Which conditions have guidelines been developed for?
One of the aims of the DYSCERNE project was to develop clinical management guidelines for four dysmorphic conditions. These are (click on syndrome name to download PDF file of guideline document):
Who are the Guidelines For?
- Dysmorphologists and clinical geneticists
- Healthcare Professionals managing the day to day care of patients with these rare conditions
- Patient support group coordinators
- Patients, families, carers, teachers
Guideline Development Methodology
The DYSCERNE guidelines have been developed using a modified Scottish Intercollegiate Guidelines Network (SIGN) approach.
This method uses multidisciplinary groups of practising clinicians to both carry out a systematic review of the evidence, and to reach expert consensus on the optimum management of a specific condition, in order to make clinical management recommendations and produce validated guidelines.
The SIGN approach has been used to develop guidelines for a wide range of conditions including some cancers with strong genetic components (e.g. bowel and breast cancers), but for rare dysmorphic syndromes, there isn’t such a rich evidence base, so our guideline development process has placed more emphasis on expert opinion and consensus, whilst still completing thorough reviews of the current literature.
A paper describing the Dyscerne guideline development methodology is currently being drafted.
Please click here for the Dyscerne guideline development methodology flow chart
Conditions and Expert Leads
From an initial list of 16 dysmorphic conditions, a scoping exercise identified 8 conditions for which the Dyscerne Partners felt the development of clinical management guidelines would be beneficial.
The list of 8 conditions was discussed at the first partner meeting in October 2007 and the four conditions listed above were selected. For each condition, an expert guideline development group, chaired by one of the Dyscerne Partners, was created.
Guideline Development Group Lead
Jill Clayton-Smith (Lead) with Malgorzata Krajewska-Walasek
Nicole Philip (Lead) with Koen Devriendt and Jill Clayton-Smith
Ineke van der Burgt (Lead) with Bronwyn Kerr
Kay Metcalfe (Lead) with Dian Donnai and Bruno Dallapiccola
We would like to thank all members of each of the guideline development groups for their support and hard work in developing the DYSCERNE guidelines.
Feedback so far has been very positive and we hope that they will be useful tools in planning the management of people with these rare conditions.
If you would like further information on this aspect of the DYSCERNE project, please contact Kate Strong, Guidelines Developer: [email protected]