Great Ormond Street Hospital (GOSH) is one of just four specialised Craniofacial Units in the UK. The large number of patients with apparently non-syndromic single suture (NSSS) craniosynostosis means this population is difficult to manage in a traditional clinical genetics setting. Although genetic diagnoses are an integral aspect of care for individuals with craniofacial disorders, no genetic counsellor (GC) has previously been specifically appointed to work with any of the Craniofacial Units.

In order to streamline care for this patient population with complex multidisciplinary needs, North East Thames Regional Genetics Service created a new role for a GC to integrate with the Craniofacial Unit at GOSH using a combined approach of face-to-face and phone consultations (telemedicine). This position is the first of its kind across the four Craniofacial Units. We report a summary of our experience one year after introducing the role of the ‘craniofacial GC.’

In this new service model, the craniofacial GC provides genetic counselling for:

1. teenagers with established diagnoses transitioning from paediatric to adult services

2. pregnant patients seeking information about recurrence risk and/or prenatal testing

3. children with apparently NSSS craniosynostosis as part of their diagnostic workup, via telemedicine appointments and initiating genetic testing in the form of a gene panel

Using telemedicine has improved care for patients with NSSS craniosynostosis by providing a more timely and convenient investigation pathway, decreasing waiting times, and saving families a significant amount of travel. This model demonstrates the benefits of integrating GCs in subspecialty teams and using telemedicine. Initial success with this model has already prompted a similar GC role to be created in another UK Craniofacial Unit.