However Ms Erna Claes, who is studying the impact of predictive testing for HBOC, found that women who had been diagnosed as carriers were not significantly more or less distressed after the results of the predictive genetic testing than women who were found not to be carriers. Nor were there significant differences in distress levels before and after the results of genetic testing in either carriers or non-carriers, according to Ms Claes, a clinical psychologist at the Psychosocial Genetics Unit in Leuven, Belgium.
Instead the carriers took practical measures, following the screening recommendations and opting for regular medical examinations. About 10% had a prophylactic mastectomy within a year of the test result. Of the women who were carriers and aged over 35, 37% had had their ovaries removed (oophorectomy) before applying for predictive testing and 44% had prophylactic oophorectomy after the testing.
Ms Claes said there could be a number of reasons why the women reacted in the way that they did. “Within our current study group, only a minority of women have chosen to have a prophylactic mastectomy so far. The majority seem to find this procedure too far reaching or consider it will have too much impact on their lives, their partner or their sexual relations. However, long-term follow-up results are needed in order to see whether more women will choose to have prophylactic mastectomy after the predictive genetic test result. It is possible that what happens in their families could have an impact on their choice, for instance if their sister, mother or aunt is diagnosed with breast or ovarian cancer, or if a family member dies from cancer.
“On the other hand, I think more women chose to have a prophylactic oophorectomy after a positive test result because ovarian cancer is much harder to detect when in its early stages and much harder to treat successfully once it is more advanced; so the women opted for safety by having their ovaries removed, probably helped in their decision by the fact that the operation doesn’t leave an obvious physical disfigurement in the way that a mastectomy does.”
Ms Claes believes that the lack of change in distress levels between women who were carriers and non-carriers, and before and after the predictive genetic testing is due to a number of reasons. “The fact that the women received extensive counselling before and after the results may have made a difference. The fact that women who opt for predictive genetic testing may be worried about their risk, does not necessarily mean that this is the major or only reason to be tested. The most important arguments for testing are: wanting to know whether regular medical examinations of the breast or ovaries are needed or not, to decide about prophylactic surgery, wanting to know whether the children have an increased risk, reducing uncertainty. Moreover, psychological models suggest that distress due to perceived high risk or perceived severity of the disease can be diminished when there are possibilities available to control the threat. In addition, it may be that a self-selected group of women opt for predictive testing, namely those who can cope in some way with the genetic risk and who already have adjusted in some way to their increased risk. However, there may also be a tendency to minimize the emotional impact of the test result. The mean distress levels may not differ statistically, but this does not mean that there is not a vulnerable group. Therefore we try to delineate the subgroup of women who could be vulnerable to distress and look for variables that can predict distress.
“At the moment our study group of 38 women is too small to test these hypotheses, but when more data becomes available we will be able to get more insight into the factors associated with distress.”
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