Abstract for presentation at 11th International Congress of Human Genetics

Outcome measurement in clinical genetics has been a long-standing challenge. To date, much research investigating outcomes has focussed on the benefits of genetic counselling. The outcome attributes used were commonly developed by providers of the service or adapted from measures used in other areas of healthcare. However, unlike other areas of medicine the ‘patients’ in clinical genetics are usually healthy; often no specific pharmacological or surgical treatment is offered. There is an argument that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. The first step, therefore, is to identify what those effects are. This presentation will describe findings from focus groups and interviews conducted with clinicians, patients and patient representatives. The approach differs from previous outcome research in clinical genetics, by using combined methods to identify firstly what the effects of genetic diseases on individuals and families are, and then to assess what genetics services can do to modify these effects. A series of social and emotional effects of genetics diseases were identified, and these will be described along with interventions identified that can help alleviate some of these effects. The presentation will include some discussion of how and why findings differed between focus groups and individual interviews. The “outcome attributes” identified in this research will be used in the evaluation of existing outcome measures used in clinical genetics, and may be used in the longer term to develop robust measures of outcome for clinical genetics services.