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.

The Role of the European Society of Human Genetics in Delivering Genomic Education

“…Dysmorphology workshops and courses have been a mainstay of the ESHG portfolio (Donnai, 2017). These have been crucial in educating professionals in a field which is integral to the care of patients and families with rare inherited developmental disorders (Douzgou et al, 2016a). The interactive forum created by the dysmorphology courses forged an environment from which the Young Geneticists' Network and the European Society of Human Genetic-Young Committee (ESHG-Y) were founded.…”

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience

“…Centres of Expertise for Dysmorphology have been established in some countries within the EU [16]. The diagnostic yield of a dysmorphology service is variable, and a delayed or uncertain diagnosis has been reported as 38% because of the rarity of many of the conditions, the uneven distribution or availability of dysmorphology services resulting in unequal access to specialists and the different experience, training and aptitude of the dysmorphologists concerned [17,18]. …”

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

“…We previously described our experience of using a web-based process to facilitate access to a specialised clinical genetics service [8]. We showed that sharing patient medical records for expert review can lead to new diagnoses, the delineation of new gene-disease correlations, advice on clinical management and education of the participating experts [8][9][10].…”