The aim of this qualitative study was to explore the emotional effects that may be common to many genetic conditions, or risk of genetic conditions, that could be appropriately targeted by clinical genetics services. The study sample comprised 52 individuals. Seven focus groups with patients of clinical genetics services, their representatives from patient support organizations and genetics healthcare providers were conducted. Focus groups were supplemented by 19 face-to-face interviews with patients and patient group representatives. Focus groups and interviews were audio taped, transcribed in full, and analyzed using the constant comparative method. Eight emotional effects of genetic diseases were identified: anxiety, worry about risks to children, guilt, anger, uncertainty, sadness and grief, depression, and redemptive adjustment. Two factors were identified that could modify the emotional effects; these were variability of genetic diseases, and lack of diagnosis/inappropriate care. Despite many negative effects of genetic disease being identified, results also suggest that redemptive adjustment is possible where a genetic condition is present in a family. Interventions designed to (1) adjust the modifying conditions and (2) help manage the emotional effects may facilitate adjustment and improve patient outcomes. (c) 2007 Wiley-Liss, Inc.
AimThe primary aim of this study was to explore the emotional effects of genetic conditions, or risk of genetic conditions, that may be appropriately targeted by clinical genetics services. A secondary aim was to generate hypotheses for future research.
ContributorsMcAllister, Marion; Davies, Linda; Payne, Katherine; Nicholls, Stuart; Donnai, Dian; MacLeod, Rhona.
Disease Category: Genetic disorders
Disease Name:
Age Range: 0 - 100
Sex: Either
Nature of Intervention: Not specified
- Consumers (patients)
- Patient/ support group representatives
- Patient perspectives
- Interview
The first stage in this study involved seven focus groups conducted to explore the effects of genetic conditions and identify which of these effects are most
appropriately targeted by clinical genetics services [McAllister et al., 2007]. The focus group participants included patients, health professionals involved in
the provision of clinical genetics services in the Northwest region of England, and patient group representatives. Bringing patients into a group
setting to discuss their experiences of having different genetic conditions in their families is an approach that has not been used in other research studies. Full
details of the focus group design are presented elsewhere [McAllister et al., 2007]. The second stage of the study involved interviews with a new sample
of 19 patients and representatives from patient support organizations. The participants in this additional sample represented different genetic conditions
to those represented in the focus groups. The data from the interviews and focus groups were combined to give a total sample size of 52 participants. The focus of the interviews was to obtain a critical assessment of the themes identified in the focus groups, from the perspectives of patients and patient representatives, and to clarify whether any new effects could be identified. In this way, the interviews were used to check the validity and saturation of the themes previously identified in the focus groups.