Results

None of the respondents suggested major changes in the counselling. At the one month follow up, 88% (n=237) of the respondents indicated that counselling was easily comprehended and suggested no changes to the pre- or post-test counselling. Ten percent (n=26) of the counsellees proposed minor changes, most commonly asking for more written material concerning methods of clinical surveillance and prevention. Those who had a university education suggested changes to the counselling more often than others (χ²=11.98, df=2, p<0.01).

At the one year follow up, the pre-test counselling sessions were considered very useful by 49% of the respondents, fairly useful by 40%, and slightly useful by 10%, while 1% had no definite opinion. Gender and education were significantly associated with the perceived usefulness of the counselling. Women (χ²=5.71, df=1, p<0.05) and those with a lower level of education (χ²=9.23 df=2, p<0.05) more often considered the counselling useful than the others.

Table 2 shows the satisfaction with the counselling protocol that included a single post-test session. At post-test follow ups, 89% and 85%, respectively, considered a single post-test session sufficient. Having children was positively associated with the opinion that an additional post-test session would have been desirable (χ²=8.45, df=1, p<0.01).

Altogether 53% of the respondents indicated that they might have used professional psychological support along with the counselling if it had been provided by the counselling team (table 3). The support might have been used by women with children more often than by others (χ²=8.26, df=1, p<0.01). Fig 2 presents opinions about the need for psychological support experienced. Fourteen percent (37/271) of the respondents could not decide or mentioned several different phases at which the need for support was greatest. These 37 subjects were excluded from further data analysis aimed at finding associations between sociodemographic variables and the need for psychological support at a particular phase. The need for support at the decision making phase was experienced more often by men than by women (20% v 7%, χ²=7.97, df=1, p<0.01), whereas women emphasised the support at the test result disclosure session phase (52% v 35%, χ²=5.68, df=1, p<0.05). Those who stated that they needed most support when the test result was being disclosed were slightly younger than those who did not (mean age 41 yearsv 45 years, ttest=1.98, df=207, p<0.05). The mutation positive subjects more often reported that they had had greatest need for support soon after hearing the result than the mutation negative subjects (19%v 6%, χ²=7.39, df=1, p<0.01), whereas the mutation negative subjects more often felt that they had greatest need for support while waiting for the test result (26% v 3%, χ²=15.73 df=1, p<0.0001). Two subjects (1%) reported that they had sought professional psychological help from the mental health services. At follow up, neither of them stated that they would have desired additional post-test counselling.

Discussion

Predictive genetic testing will reach new dimensions when genes predisposing to common diseases become known, and this places increasing pressure on genetic services, because it inevitably will lead to more patients and relatives being tested. It is, therefore, essential to study the feasibility and acceptance of practical protocols of counselling used in common diseases. In the present study, we investigated the need for psychological support experienced at different phases of the testing process for HNPCC and experiences of genetic counselling in a research setting.

Of the 446 high risk members contacted in the 36 HNPCC families, the great majority (75%) took the test; afterwards, most of them were satisfied with their decision and very few regretted it (K Aktan-Collan, in press). However, in the present study, 53% of the study subjects, especially the women with children, stated that they might have used professional psychological support if it had been actively offered to them. In general, women consult doctors about emotional distress more often than men.28 They also tend to express adverse emotional reactions related to predictive genetic testing more openly and to be more intimately involved with their offspring,29 30 which may explain why they were more likely to want professional support. These results suggest that the option of professional psychological support should be offered as part of the testing procedure. On the other hand, only 1% had sought professional psychological help. The need for support was apparently relative and the great majority were probably coping sufficiently, and even well, without professional help. To resolve this issue thoroughly, long term studies on the psychological implications of such testing are needed.

On enquiry one year after receiving the test result, only 2% stated that the need for support was at that time at its greatest. This suggests that the most distressing part of the predictive testing procedure was in most cases now over and the subjects had adjusted to the situation. The need for support was perceived to have been greatest at the time of the decision making, when waiting for the results, and, especially, at the moment of receiving the test results. In fact, our protocol had been designed with these important phases of the procedure especially in mind. The pre-test counselling lasted for an hour and contained, in addition to information, discussion of the possible positive and negative consequences of the test. This thorough discussion was aimed at adapting the counsellees to cope with the test result and perhaps, therefore, the later phases of the programme were not experienced as so difficult.

Tibben et al 31 reported that carriers of the HD mutation experienced the pre-test period as the most stressful time in the testing procedure. In our study, this period was considered especially important by men and mutation negative subjects. The latter can be explained by the retrospective nature of this question. Understandably, the mutation negative subjects felt more distressed before hearing the result than afterwards when they looked back at the issue after a year. By contrast, women and mutation positive and younger subjects experienced the greatest need for support immediately and soon after hearing the result. This should be kept in mind by allowing ample time for the test disclosure session and strongly encouraging the counsellees to bring an accompanying person to this event.

A majority of our participants considered the counselling sessions useful and did not suggest any improvements concerning them. A minority would have been glad of written educational information during the counselling. (On the basis of these opinions, we have prepared an HNPCC information booklet including basic knowledge about HNPCC, which was sent to the participants with questionnaire III.) The less educated the counsellees were, the more satisfied they were with the counselling. This may have been because they had been less active in searching for information on their own and more often lacked knowledge initially and therefore gained more from the counselling. Women found the pre-test counselling more useful than men. This may reflect the fact that women in general make more use of medical services and have a more positive attitude towards health care than men.32 Alternatively, it could indicate that men might have been less interested in the psychosocial issues raised in the session than women or they might have felt that they already had enough information to make the decision regarding the test before the counselling. It is also possible that the pre-test counselling was given in a way that was more acceptable to women than to men.

Only a handful of the counsellees would have been glad to discuss the post-test information with the physician again; the great majority considered one post-test session sufficient and the desire for additional counselling was not associated with the use of mental health services. These findings suggest that offering a single post-test session is adequate, provided that an option of a second session is included.

It should be noted that the subjects in this study were only familiar with the present protocol and could not compare it with the more comprehensive one used in HD. Previous studies have shown that extremely different forms of counselling protocols are accepted without dissatisfaction.33 34 In two reports of testing for cystic fibrosis (CF) carriers, in which the different types of pre-test education, clinic (including a genetic counselling session) and home based (comprising an educational pamphlet) education, for at risk subjects were compared, there was a tendency to prefer education and testing in the home,33 but no significant differences were found between the groups regarding knowledge about CF, anxiety, emotional effects, or satisfaction with the testing.34Those who merely read the pamphlet found the testing more convenient but were more confused by it than those who had attended a genetic counselling session. Furthermore, in predictive genetic testing for breast cancer, research on pre-test education has indicated that a counselling based approach increases awareness of negative aspects of the predictive testing, but does not decrease interest in the testing compared with a merely educational approach without counselling,35 which seems to support the statement that counselling in the course of predictive testing is essential to avoid decisions being taken too lightly.18

The time required for the present protocol was reasonable; the two counselling sessions (1½-2 hours) and telephone calls (10-30 minutes) took at most 2½ hours per counsellee. The counselling sessions were conducted by three different counsellors (a nurse, a physician specialising in medical genetics, and a gastroenterological surgeon). However, the analyses showed no statistically significant differences between the counsellors regarding any of the outcome variables. Thus, professionals of different kinds can be trained to perform genetic counselling for HNPCC as long as the high standards of counselling, such as confidentiality and autonomy of the counsellee, are respected and maintained.

LIMITATIONS OF THE STUDY

Our study differed in some respects from a non-research setting. Firstly, all counselling and testing procedures were free of charge for the participants as well as for the communities. Secondly, the majority of our subjects had participated in the clinical surveillance and had already been living with the idea of being at high risk for years. Their opinions, however, did not differ significantly from those not under clinical surveillance. Thirdly, the answers of the study subjects may have been biased in a positive direction, as the same team who was involved with the questionnaire study also provided the counselling and organised the clinical surveillance. For this reason, the participants may have felt uncomfortable admitting dissatisfaction or suggesting changes to the protocol. Fourthly, those who had the most negative attitudes towards the counselling may be those who did not complete the questionnaire study. However, since there were no baseline differences between those who completed the questionnaires and those who did not, a significant bias is unlikely to exist. By contrast, it is possible that those completing the questionnaires represented a slightly more educated and employed proportion of the Finnish population (table 1), which may have affected the study compliance. On the other hand, general response rates to health surveys in Finland are high (50-90%).36

Conclusions

The uptake of a predictive test was high in Finnish HNPCC families; 75% of those contacted and 96% of those attending counselling took the test. However, the present study suggests that making the decision was psychologically demanding and, apparently, the moment of the test result disclosure was even more stressful. With time, coping with the test result was found to be easier. This may be because of the existing beneficial surveillance and early treatment of cancer, which increases the sense of security among the mutation positive subjects and, for the same reason, decreases the feelings of survivor guilt among those receiving the good news.

Thus, our results support the view that, for the purpose of genetic counselling and predictive testing for HNPCC, the reduced form of the counselling protocol is suitable. A protocol that includes one comprehensive educational pre-test counselling session and a test disclosure session, supplemented with the option of professional psychological support, seems to be sufficient for both the educational and the supportive needs of counsellees at the psychologically critical phases. Only a minority expressed need for post-test follow up sessions, which suggests that, in this disorder, resources can be directed to the beneficial surveillance programmes rather than to extensive psychological support.