Abstract
There has been a rapid increase in our ability to diagnose genetic conditions in children, using technology such as Next Generation Sequencing and array CGH. Very little is known about the impact of such diagnoses on parents, and the parents’ need for support followingtesting. We, therefore, used a qualitative methodology to explore the effect of diagnosis on parents and to identify areas in which additional support would be most useful. Semi structured interviews were undertaken with 11 parents of children with a confirmed genetic diagnosis causing developmental delay and additional syndromic features. All patients were identified and recruited with ethical approval and consent from within NHS
Tayside. The interviews were transcribed and analysed using framework analysis. Four main themes were identified: the reaction to having a genetic diagnosis; how they felt the healthcare team managed them; the support that was available and how a genetic diagnosis affects the family. Within each theme, there were multiple sub-themes highlighting both positive and negative effects on the family. A key point that emerged was
that parents felt there was a lack of signposting to support especially before and immediately after diagnosis, and that provision of appropriate information and structured follow up would improve parents’ experiences.
Our results have allowed us to design a questionnaire to ascertain how often key themes are appropriately dealt with during consultations, and to propose potential management changes required to improve follow up of parents with a child with a new genetic diagnosis.
| Date of Award | 2014 |
|---|---|
| Original language | English |
| Awarding Institution |
|
| Supervisor | Jonathan Berg (Supervisor) & Annie Anderson (Supervisor) |