Summary:
The objective of this study was an attempt to evaluate the clinical genetics
service in the field of rare dysmorphic syndromes (Dysmorphology), in a
Hellenic department of medical genetics. We chose to examine, according to the
WHO distinction the impact of the service provided to: 1. individual
patients/families suffering from a genetic disorder; 2. populations at
increased risk of a genetic disorder and (B) to investigate and compare the
nature and utility of a Dysmorphology service in three different conditions:
two Mediterranean cities, Athens, Hellas and Afula, Israel (MDS), the
Manchester Centre for Genomic Medicine, a UK service with dysmorphology
expertise (UKDS) and the DYSCERNE, digital service (DDS). This study includes
examples of individual Greek patients with extremely rare chromosomal syndromes
diagnosed by Chromosomal microarray analysis as well as Greek populations with
a dysmorphic syndrome caused by a founder mutation: in both categories, the
Dysmorphology service had a specific impact on the definition and enrichment of
the corresponding phenotypes, providing information associated with the
prognosis of patients and assumptions on the underlying pathological
mechanisms. 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 demonstrate 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, 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.
Keywords:
Medical genetics, Genetic syndrome, Malformation, Dysmorphology, Mutation
