Evaluating clinical genetics services and the involvement of service users

2006 Conference

Unlike other areas of medicine, many users of clinical genetics services (CGS) are healthy relatives of affected people and the ‘treatment’ offered is information or surveillance. This makes the evaluation of CGS difficult. Our research aims to develop methods to evaluate the patient benefits from a CGS. Consumers were involved in: (a) focus groups to explore the effects of genetic conditions on patients and (b) a postal survey to identify appropriate measures to value the patient benefits from a CGS. Seven focus groups explored the views of patients using genetics services, support group representatives and healthcare professionals about the effects of genetic conditions on patients. A number of important themes were identified, including the effect of genetic conditions on social functioning within families. Appropriate measures to value these effects are not currently used. To date, the postal survey has received responses from 132 genetics healthcare professionals and 75 patients and representatives. The results suggest preferred measures of patient benefits were: ability to make informed decisions; satisfaction with the service and knowledge of the genetic condition. The results of these two studies will be used to develop a core set of outcome measures to evaluate the effectiveness and efficiency of CGS.