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