Outcome measurement in clinical genetics is problematic because the patient benefits are difficult to measure. The aim in this qualitative grounded theory study was to develop a theoretical framework describing the patient benefits from using clinical genetics services. Seven focus groups and 19 interviews were conducted with patients, patient group representatives, and health professionals. Data analysis resulted in construction of a model of empowerment summarizing the patient benefits from using clinical genetics services. Empowerment is similar to the concept of perceived personal control (PPC), and a measure of PPC has been developed for use in evaluations of clinical genetics services. However, empowerment includes some benefits not captured by PPC related to empowerment of other at risk relatives, and future generations.
AimThe aim of the analysis presented here was to develop a theoretical framework, including a measurable construct, describing how the potential patient benefits from clinical genetics services may be defined and measured. The framework could then be used to:
(1) develop clinical genetics services that have the potential to maximize patient benefits; and (2) identify or develop appropriate outcome measures to evaluate the patient outcomes from using clinical genetics services.
McAllister, Marion; Payne, Katherine; Macleod, Rhona; Nicholls, Stuart; Dian, Donnai; Davies, Linda.
Disease Category: Genetic disorders
Disease Name:
Age Range: 0 - 100
Sex: Either
Nature of Intervention: Not specified
- Clinical experts
- Consumers (patients)
- Patient/ support group representatives
- Patient perspectives
- Prioritising
- Focus group(s)
- Interview
Seven focus groups were conducted to explore the effects of genetic conditions on patients and their families, and to identify which effects of genetic conditions are most appropriately targeted by clinical genetics services. Patients and health professionals were represented in the focus groups.
Nineteen one-to-one interviews were conducted with patients and representatives from patient support organizations. The interviews focused on what
patients believed clinical genetics services could do to maximize benefits to patients and their families.
However, the open-ended approach used would have enabled participants to identify harms as well as benefits of using clinical genetics services.
Patients were recruited through a hospital clinical genetics department, by letter from a member of the clinical team. Patient group representatives were identified through publicly available information, and health professionals were identified through local clinical networks. Both were recruited directly by the research team.
The methodology used for the focus groups and interviews was virtually the same, apart from some slight amendments to the focus group schedule,
making it suitable for one-to-one interviews, and taking into account some of the findings from the focus groups.