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Dysmorphology services: a snapshot of current practices and a vision for the future
Author(s) -
Douzgou S.,
Chervinsky E.,
Gyftodimou Y.,
KitsiouTzeli S.,
Shalev S.,
Kanavakis E.,
Donnai D.,
ClaytonSmith J.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12571
Subject(s) - medicine , service (business) , gestalt psychology , snapshot (computer storage) , psychology , computer science , business , neuroscience , database , marketing , perception
Dysmorphology concerns the recognition and management of rare, multiple anomaly syndromes. Genomic technologies and software for gestalt recognition will re‐shape dysmorphology services. In order to reflect on a model of the service in the post‐genomic era, we compared the utility of dysmorphology consultations in two Mediterranean cities, Athens, Greece and Afula, Israel ( MDS ), the Manchester Centre for Genomic Medicine, a UK service with dysmorphology expertise ( UKDS ) and the DYSCERNE , digital service ( DDS ). We show that it is more likely that chromosome microarray analysis will be performed if suggested in the UKDS rather than in the MDS ; this, most probably reflects the difference of access to genetic testing following funding limitations in the MDS . We also show that in terms of achieved diagnosis, the first visit to a dysmorphology clinic is more significant than a follow‐up. We show that a confirmed syndrome diagnosis significantly decreases the requests for other, non‐genetic, laboratory investigations. Conversely, it increases the requests for reviews by other specialists and, most significantly ( t ‐test: 8.244), it increases further requests for screening for possible associated complications. This is the first demonstration of the demands, on a health service, following the diagnosis of a dysmorphic condition.