The aim of this study was to develop a patient-reported outcome measure (PROM) for clinical genetics services. Previous research was used to develop a draft 84-item questionnaire, which was completed by 527 members of patient support groups. Responses were subjected to exploratory factor analysis (EFA). Parallel analysis was used to identify the number of factors to extract using oblique rotation. Twenty-four questions were selected to form the Genetic Counseling Outcome Scale (GCOS-24). Two hundred and forty-one patients completed a questionnaire pack before and after attendance at a genetics clinic that included the GCOS-24, and validated measures of health locus of control, perceived personal control, anxiety, depression, satisfaction with life and authenticity. Concurrent validity of the GCOS-24 was assessed using bivariate correlation. Sensitivity to change of the GCOS-24 was assessed using analysis of variance. EFA identified a single overarching construct consisting of seven dimensions. Internal consistency (α = 0.87) and test-retest reliability (r = 0.86) are good. The GCOS-24 shows convergent and divergent validities, and sensitivity to change over time with a medium-to-large effect size (Cohen's d = 0.70). The GCOS-24 has potential as a clinical genetics-specific PROM.

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Many researchers have tried to establish criteria for the evaluation of genetic counseling and the assessment of its success. Most studies focused on counseling outcomes mainly educational and reproductive variables. In the present study we introduced the concept of "perceived personal control" (PPC), which captures a wider and more meaningful range of effects of genetic counseling. It was found to be central to coping with health threats and to adapting to a broad spectrum of health problems. This study investigated 154 counseling cases. Counselees were requested to complete pre- and post-counseling questionnaires consisting of a knowledge test, measures of PPC, expectations/evaluations of counseling, and satisfaction with the procedure. Comparisons of mean PPC scores before and after counseling showed significant increases. Higher post-counseling PPC was found among counselees who had been given a definite diagnosis, a specific recurrence risk, and been offered prenatal diagnosis. Post-counseling PPC also correlated with knowledge, satisfaction, counseling evaluations, and expectation fulfillment. The findings suggest that PPC is a valid measure for the evaluation of genetic counseling outcomes. The psychometrically reliable scales developed in this study can become helpful tools for assessing genetic counseling both in research and in clinical practice, helping the counselor evaluate the counseling session and focus on the counselees' needs.

Patient satisfaction has become a significant issue in evaluating medical care, although it has been largely neglected in genetic counseling. A 32-item questionnaire was designed to examine patient satisfaction and was administered to 76 clients in a genetic counseling center, and 56 parents attending a pediatric outpatient clinic (the control group). Factor analysis showed 3 dimensions to satisfaction with genetic counseling: instrumental, affective, and procedural. The general level of satisfaction was found to be lower in the genetic counseling group than in the control group. This finding was interpreted as expressing basic properties of genetic counseling. The most important determinant of satisfaction in both groups was satisfaction with the content of information provided in counseling. Some affective and procedural aspects of genetic counseling were found more satisfying, and more important in determining genetic clients' general sense of satisfaction, as compared to the control subjects.

In this article the Self Regulatory Theory (Leventhal, 1970; Leventhan H., Benyamini, Brownlee, Diefenbach, Leventhal E.A., Patrick-Miller, & Robitaille, 1997) is presented as a framework for conceptualizing genetic counseling. Findings published in the genetic counseling literature are re-interpreted from the perspective of the theory. Clients are seen as active information processors rather than passive receivers of information. Research related to clients' representations of genetic causality of disease and specific genetic conditions is reviewed. Associations of genetic illness representations to self representations, coping and health behaviors are examined, and suggestions are made for applications of the theory in research and clinical practice.