Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary

Abstract

We performed a large outcome study at group and individual level in which the goals of genetic counselling were operationalized into cognitive and affective outcomes: empowerment, perceived personal control and anxiety. We then examined which socio-demographic and clinical variables were associated with changes in these outcomes. Data came from 1479 counselees who completed questionnaires (GCOS-18, PPC and STAI) at three time points: before the start of genetic counselling, after the first consultation and after the results of genetic counselling were disclosed. Results showed that at group level empowerment, perceived personal control and anxiety improved significantly after the whole genetic counselling process. Effect-sizes were medium for empowerment and small for the other outcomes. At individual level, 48% of counselees improved in empowerment, 21% in perceived personal control and 17% in anxiety. Around 10% of counselees worsened on all outcomes. Only ‘reason for referral’ and ‘genetic test result’ were significantly associated with changes in outcomes. This study demonstrated improvements among counselees in cognitive and affective outcomes after genetic counselling at group level. However, our results also suggest that there are opportunities for improvement at individual level, as many counselees remained stable and some even worsened on all outcomes. Routine outcome monitoring could help to explore the needs of counselees and could help to identify counselees who worsen.

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

“…The results of our study indicate that genetic counselling before initiating genetic testing for epilepsy is important. First, about half of the increase in empowerment was already seen after pre-test counselling aiming at informed decision making, as was also observed in the larger Dutch genetic counselling effect study [25,26]. Second, our participants were not getting more anxious towards genetic testing, while clinically significant mean anxiety scores were observed both before (47) and after (50) genetic testing in a previously published cohort without genetic counselling [47].…”

“…The anxiety scores in our cohort were similar to those in the larger Dutch genetic counselling effect cohort at baseline (39.4 and 38.8 (STAI-6 scores multiplied by 20/6), respectively) [26]. Also, similar decreases in anxiety during the counselling trajectory were seen (d ¼ À0.24 and d ¼ À0.23, respectively), but the anxiety scores only changed significantly in the large Dutch cohort, probably due to the higher number of participants included [26]. Anxiety was not well captured in the concept of empowerment.…”

“…Since empowerment was measured with the relatively new GCOS-18 questionnaire, no 'normal' baseline empowerment scores or minimum clinically relevant difference in scores have been established. If we compare the empowerment scores in our participants referred for epilepsy with those of the large Dutch genetic counselling outcome cohort (n ¼ 1479), referred for a wide variety of disorders, comparable baseline (91.3 and 91.4, respectively) and increases in empowerment (d ¼ 0.57 and d ¼ 0.51, respectively) were seen [26]. Baseline and changes in empowerment scores were also similar in our cohort of mainly parents (87%) compared to the subcohort of parents of referred children in the large Dutch genetic counselling outcome cohort (n ¼ 179/1479): baseline empowerment scores were 91.3 and 89.2, respectively, and changes were similar (d ¼ 0.57 in both cohorts) [26].…”

“…If we compare the empowerment scores in our participants referred for epilepsy with those of the large Dutch genetic counselling outcome cohort (n ¼ 1479), referred for a wide variety of disorders, comparable baseline (91.3 and 91.4, respectively) and increases in empowerment (d ¼ 0.57 and d ¼ 0.51, respectively) were seen [26]. Baseline and changes in empowerment scores were also similar in our cohort of mainly parents (87%) compared to the subcohort of parents of referred children in the large Dutch genetic counselling outcome cohort (n ¼ 179/1479): baseline empowerment scores were 91.3 and 89.2, respectively, and changes were similar (d ¼ 0.57 in both cohorts) [26]. A comparison with GCOS scores in other genetic counselling cohorts for any reason [32], psychiatric diseases [33e37], cancer [38], cardiovascular disease [39], or suspected inherited retinal dystrophy [40] was not equitable, since their genetic counselling trajectories did not necessarily include genetic testing and their empowerment scores were calculated using the GCOS-24 instead of the GCOS-18.…”

“…Our research was part of a larger genetic counselling outcome study using the Dutch version of the Genetic Counselling Outcome Scale (GCOS) and had the same study design [25,26]. All patients who were referred to a clinical geneticist in the outpatient clinics of the University Medical Centre Groningen (UMCG) or the University Medical Centre Utrecht (UMCU) in the Netherlands were eligible for inclusion in this larger study if they spoke and understood sufficient Dutch to complete the questionnaires.…”