title: Dysmorphology services: a snapshot of current practices and a vision for the future.
abstract: 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.
authors: Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester, UK.
authors: S
authors: S
authors: Douzgou
authors: Genetics' Institute, Ha'Emek Medical Center, Afula, Israel.|The Rapapport Faculty of Medicine, Technion, Haifa, Israel.
authors: E
authors: E
authors: Chervinsky
authors: Department of Genetics, Institute of Child Health, Athens, Greece.
authors: Y
authors: Y
authors: Gyftodimou
authors: Department of Medical Genetics, Athens University School of Medicine, Athens, Greece.
authors: S
authors: S
authors: Kitsiou-Tzeli
authors: Genetics' Institute, Ha'Emek Medical Center, Afula, Israel.|The Rapapport Faculty of Medicine, Technion, Haifa, Israel.
authors: S
authors: S
authors: Shalev
authors: Department of Medical Genetics, Athens University School of Medicine, Athens, Greece.
authors: E
authors: E
authors: Kanavakis
authors: Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester, UK.
authors: D
authors: D
authors: Donnai
authors: Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester, UK.
authors: J
authors: J
authors: Clayton-Smith
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D019468:Disease Management; D005817:Genetic Counseling; D005820:Genetic Testing; D005826:Genetics, Medical / Q000379:methods / Q000639:trends; D006801:Humans; D010818:Practice Patterns, Physicians' / Q000639:trends
keywords: chromosome microarray analysis; dysmorphology; genomic service; gestalt recognition software; next-generation sequencing; services