Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for theBRCA1/BRCA2 gene mutation in The Netherlands
- *Department of Medical Psychology and Psychotherapy, Erasmus University Rotterdam/Netherlands Institute for Health Sciences, PO Box 1738, 3000 DR Rotterdam, The Netherlands
- †Department of Clinical Genetics, University Hospital Dijkzigt/Erasmus University Rotterdam, Rotterdam, The Netherlands
- ‡Department of Medical Oncology, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
- Dr Lodder,
Editor—The identification of theBRCA1 and BRCA2gene mutations in 1994 and 1995 respectively1 2 allowed detection of mutation carriers in families with autosomal dominant hereditary breast/ovarian cancer. Female mutation carriers have a risk of 56-87% of developing breast cancer and of 10-60% for ovarian cancer.3 The options are either frequent surveillance or prophylactic surgery. For male mutation carriers, cancer risks are only slightly increased. The offspring of mutation carriers have a 50% chance of inheriting the gene mutation. The possibility of prenatal genetic diagnosis for “late onset diseases”, such as hereditary breast/ovarian cancer, raises complex ethical questions.4 5 The present study addresses the question to what extent physicians and policy makers working in genetics or oncology may expect requests for prenatal diagnosis and termination of pregnancy because of carriership forBRCA1/BRCA2.
A questionnaire assessing attitudes towards termination of pregnancy if the fetus was found to be aBRCA1/BRCA2female or a male mutation carrier was answered by 78 subjects (67 women and 11 men) who underwent presymptomatic DNA testing for hereditary breast/ovarian cancer, six months after receiving their test results. Subjects were asked to indicate to what extent they found termination of pregnancy acceptable for themselves. Subjects with and without a desire to have children were included in the study. There were 26 carriers of theBRCA1/BRCA2mutation (23 females/three males, mean age 36.5) and 52 non-mutation carriers (44 females/eight males, mean age 38.8). The latter group served as a reference group; they cannot transmit the mutation to their offspring, but are well informed about the implications of hereditary breast/ovarian cancer.
None of the 26 mutation carriers found termination of pregnancy in the case of a female or a male mutation carrier fetus as acceptable for themselves. A minority of the non-mutation carriers viewed termination of pregnancy as acceptable in the case of a female (14%) or a male mutation carrier fetus (10%, table 1). The differences between mutation and non-mutation carriers are significant (p<0.05, Pearson chi-square test, SPSS/PC, release 8.0). Five of the seven non-mutation carriers accepting termination of pregnancy thought this to be acceptable independent of the sex of the mutation carrier child. This is surprising, since the lifetime risk of developing cancer for males with a BRCA1/BRCA2 mutation is not so high. However, the majority of the non-mutation carriers and all the mutation carriers in the present study rejected termination of pregnancy in the case of a child who (1) has a high risk of developing breast or ovarian cancer later in life (a girl) and/or (2) can transmit the gene to his/her offspring (boy or girl).
The stronger reluctance in mutation carriers than in non-mutation carriers towards terminating a pregnancy of a mutation carrier boy or girl may have several reasons. Firstly, mutation carriers may be more acutely aware of the burdensome emotional implications of terminating a pregnancy because ofBRCA1/BRCA2carriership than non-mutation carriers. Secondly, they may perceive terminating the pregnancy of a mutation carrier child as incompatible with their own existence.
In subjects at risk for autosomal dominant Huntington's disease, the actual demand for prenatal diagnosis and termination of pregnancy is much lower than would be expected based on studies assessing attitudes towards these techniques.6 7 Prenatal diagnosis and termination of pregnancy for late onset diseases, with decades of healthy life before onset of the disorder, are considered very difficult choices for parents. In our experience of 500 families at risk for hereditary breast/ovarian cancer seen during the past five years, two requests for prenatal diagnosis were made by recently identified mutation carriers, who wanted to have children in the near future. Considering the few actual requests for prenatal diagnosis forBRCA1/BRCA2, the emotional burden of such a decision, and the general reluctance to terminate a pregnancy of a mutation carrier child (this study), the demand for prenatal diagnosis in hereditary breast/ovarian cancer families is expected to remain low. Genetic counselling of couples considering these highly complex and burdensome options should focus on supporting parents in the decision making process. There are no general rules of wisdom or ethical desirability that could take priority over finding individual solutions and the need to support each couple.
This study is part of a larger study on psychosocial implications of the presymptomatic DNA test for HBOC, which is funded by the Dutch Cancer Society.