Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients' views

Objectives: To explore genetics professionals' and patients' views about which outcome domains are most appropriate to measure the patient benefits of using a clinical genetics service. Methods: A postal Delphi survey was sent to: 115 consultant geneticists; 162 genetic counsellors; 156 support group representatives; 106 patients. The survey contained 19 outcome domains and respondents assessed the usefulness of each for clinical genetics services. Results: The final professional panel comprised 115 genetics healthcare professionals and the patient panel comprised 72 patients. The outcome domains that achieved consensus (at least 75% of panel rated 'useful') for the patient and professional panels were: decision-making; knowledge of the genetic condition; perceived personal control; risk perception; satisfaction; meeting expectations; ability to cope; diagnosis accuracy; quality of life. Comparison of the ratings between the professional panel and the patient panel showed there was no statistical difference (χ2, p <0.01) between the ratings ('useful' compared to 'not useful') for 14 of the 19 outcome domains but found differences for the perceived usefulness of: level of depression; health status; spiritual well-being; test accuracy; rate of termination. Conclusions: This Delphi survey identified nine outcome domains which are good starting points to develop a core set of outcome measures for evaluating clinical genetics services. © 2007 Elsevier Ireland Ltd. All rights reserved.