A different type of appointment: the experiences of parents who have children with intellectual disabilities referred for genetic investigation

Abstract

Current research endeavours in genetics largely concentrate on developing more effective approaches to genetic investigation and treatment for individuals. By contrast, less attention has been paid to the impact of genetic referral on the parents of children undergoing investigation, in particular which aspects of the referral process that contribute to increased anxiety reported by parents attending a genetics appointment. The overall aim of this project was to gain an understanding of the experience of parents who have a child referred for genetic investigation. This paper reports how parents perceived an appointment with a geneticist as being `different' from appointments with other doctors they had attended. Using an Interpretative Phenomenological Analysis (IPA) design information was obtained using preappointment self-completion questionnaires with 19 parents that they completed in the two weeks prior to their appointment. After the appointment semi-structured interviews with 17 of these parents within three months of the appointment with the geneticist. In addition, a second interview with 10 parents (of the above 17 parents) for whom genetic investigation were continuing was completed approximately nine months following their initial appointment with the geneticist. All parents who agreed to participate in this study were parents of children with intellectual disabilities. Overall, four superordinate themes were identified, these were: seeking information — the wider context; a different type of appointment; interpreting information and experiences and parents' changing perspectives. The findings reinforce the findings of previous studies that have highlighted the desire of parents to receive an explanation of their child's condition, the wider impact of being referred to and attending an appointment with a geneticist and the role that receiving a diagnosis can play in parents' process of adaptation to their child's condition. However, this study provided a new insight into how parents perceive their appointment with a geneticist as being different from other doctors they have attended. The findings of this study highlight the need to recognise the different manner in which parents perceive an appointment with a geneticist in comparison with appointments with other doctors. The illumination of the perceived `differentness' that parents have prior to and during an appointment with a geneticist appointment provides a new insight into why parents may be anxious as a result of the processes involved. In seeking to support the parents of children referred to a geneticist, health professionals should identify parents' understanding and expectations of the appointment and provide timely information and support in order to assist parents prepare for the appointment and make maximum use of this opportunity to raise and understand new information.