National surveys of UK families’ 10 year experience of diagnosis and genetic counselling for children with rare chromosome disorders. [FUNDER: Unique Charity].

PROJECT FUNDING: Unique Charity (£2,550)

Objective: To describe and compare the experiences of diagnosis and genetic counselling reported by UK families of children with rare chromosome disorders in 2003 and 2013.

Methods: UK members of an international rare chromosome disorder support group completed a detailed questionnaire in 2003; the same survey was repeated for new members in 2013. Information was collected on family demographics/ genetic conditions and detailed experiences of: (i) diagnosis of their child’s chromosome disorder, including how they were informed, by whom and where; and (ii) genetic counselling received, covering the referral process, initial consultation, follow-up information and further support provided, and their perceptions of the quality of the service received. Results for 2003 and 2013 are compared.