Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures used in other areas of healthcare. Many of the 'patients' in clinical genetics are healthy but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases were identified. Some differences emerged between the effects identified by health professionals and those identified by patients. These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.
AimThese findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.
This study forms part of a larger research programme aimed at developing outcome measures for clinical genetics services. The aim in this study was to identify aspects of health and social well-being that are affected by genetic conditions, or risk of genetic conditions, that may be appropriately targeted by clinical genetics services. These could then be used as a first step in identifying valued outcome attributes to be included in the development of new outcome measures and tools.
McAllister, Marion; Payne, Katherine; Nicholls, Stuart; MacLeod, Rhona; Donnai, Dian; Davies, Linda M.
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)
Health professionals were sent an invitation letter signed by a member of theNowgen team, a participant information sheet and consent form. Patient
representatives were identified through the Genetic Interest Group (GIG) membership list, the Contact a- Family directory, as well as a wider internet search.
Groups identified were asked to nominate a regional representative for the North West. Individuals were then approached and recruited in the same way as
health professionals. Patients who had an appointment with clinical genetics services within the last year, were invited to participate by letter from their
consultant in clinical genetics, supported by a participant information sheet and consent form.