Genetic Counselling Services: Outcomes

Abstract

Abstract Outcome studies of genetic services have been undertaken for several decades, but defining outcomes measures that are relevant to this type of service has been challenging. Measures have included client retention of information (including the risk assessment), reproductive behaviour, psychological change and satisfaction. However, some of these outcomes, such as reproductive behaviour are inappropriate for assessment of a genetic service, and others, such as retention of recurrence risk information, appear to be less relevant to the client than to professionals. Resolution of uncertainty and changes in perception of personal control have been highlighted as aspects of the process of genetic counselling that significantly influence the outcome for the client. However, some studies have highlighted a potentially serious mismatch between the client's agenda and that of the service provider. There is a need for further collaborative work with clients to ensure that outcomes that are relevant and measurable are developed. Key concepts: Health services should be assessed to enable improvements to be made and to ensure that provision of the service is effective and that they meet the needs of service users. Clinical genetic services should be assessed using relevant outcome measures. The service user's retention of recurrence risk information has been used as an outcome measure, but may not be as important to service users as to professionals. Change in reproductive behaviour is not a viable outcome measure for clinical genetic services. Patient satisfaction surveys are not sufficient in themselves as outcome measures, but may contribute to the overall assessment of services. Service users report changes in their psychological state, such as ‘peace of mind’, as a benefit of using genetic services. Psychological change in the client is relevant as an outcome measure, but finding appropriate psychometric tools to assess these changes is challenging. There is evidence that there may be a mismatch between what service users require and what professionals provide. Development of usable outcome measures for genetic services requires input from all relevant stakeholders. Further work is still required to develop suitable outcome measure tools for genetic services.