Focussing on women of appropriate age, and who are making decisions about having children in the knowledge of positive BRCA status, this paper explores and contrasts attitudes and intentions towards reproductive testing options, provides explanations for the differences in attitudes towards PND/TOP and PGD, and highlights the need for psychosocial support in this area. Identified themes concern the impact of genetic testing before having children, the perceived severity of HBOC and how this relates to willingness to pass on the gene, and relative acceptability of reproductive options. Perceived severity is influenced by personal and family cancer history, current risk management options and faith in future advancements in medical science, and by how well women believe they coped or would cope with cancer. Most women value their own life and that of family members who also carry the gene mutation, and although some have concerns about passing on the mutation to children, they do not believe HBOC is a condition for which pregnancy termination is justified. This objection seems not to be based on the principles of morality; the women believe in the right to choose whether to continue a pregnancy on any grounds, and believe there are conditions more serious than HBOC for which they would terminate. Women consider PGD for BRCA to be acceptable in theory, although many are deterred by the need to undergo IVF and ovarian stimulation. The contrasting attitudes to PND/TOP and PGD are, we suggest, motivated by a wish to prevent transmission of the BRCA gene mutation, without passing judgement on a specific life, or fetus. The findings also highlight the complexities of reproductive decision making for women who have had BRCA genetic testing at this life stage, even after a cancer diagnosis, which may not have been fully appreciated before testing and have implications for counselling service provision.
The HFEA advocate that, ‘When deciding if it is appropriate to provide PGD in particular cases, the seriousness of the condition in that case should be discussed between the people seeking treatment and the clinical team'.
18 As this study shows, ‘seriousness' is an important factor in attitude towards having children at risk, but may be an oversimplification of the perceived imperative to avoid it. Women who have similar personal or family histories of cancer may have very different psychological responses and attitudes to risk management. Determinants of psychological adaptation may include previous risk perception, age at development of cancer, but personality and a perceived need to control risk may also be factors. If access to PGD is to be granted on a case-by-case basis, these factors need to be taken into account. There is a potential contradiction between the nonselection of carrier males for implantation and the licensing requirements for PGD given that males are not at high risk of cancer, and indeed for
BRCA1 may have no extra risk.
Our findings compare with recent studies of attitudes towards PGD
26, 27, 28 that suggest that high-risk women (with the caveat that some of these studies include non-
BRCA carriers and women post reproductive age) express concerns about transmitting the
BRCA mutation and are broadly in favour of PGD being offered for
BRCA, although respondents feel underinformed about the process and procedures involved.
31 Approximately half of a cohort
32 of
BRCA high-risk women and men believe they would consider PND/TOP or PGD, with no appreciable difference in the numbers who would consider either. The difference between hypothetical and actual intent is an acknowledged limitation in these studies. The present study addressed this by focussing on mutation carriers who are of approximate reproductive age, and whose mutation status was known before they had children. We find that PGD is considered more acceptable than PND/TOP for
BRCA, but not because of a perceived moral difference between the developmental status of an embryo
versus an implanted fetus; rather, it represents an unwillingness to end a life on the basis of cancer predisposition, with which participants and other relatives also live.
Our data support the argument of Cameron and Williamson
33 that ‘ethical decisions (about PGD/PND) taken are far closer to an
ad hoc, relativist, and utilitarian model than one based on any of religious codes, scientific knowledge, consistency in the view of the status of the embryo'. We suggest that this is linked to the perceived utility of PGD for later-onset conditions: to prevent transmission of the deleterious gene to future generations, without the need to terminate a particular life. This contrasts with PGD for more ‘serious' conditions with earlier onset, where the desired outcome is simply to have a healthy child.
34 If correct, it might be expected that PGD would be more acceptable than PND/TOP for other later-onset conditions, as reported for HD.
35 Our finding that PGD is more acceptable to these women, notwithstanding the need to undergo IVF, is borne out by reports of referrals for PGD for
BRCA in the United Kingdom.
36 Further research on the experience of going through PGD for
BRCA is required.
Studies based in other countries have found that health professionals are divided over acceptability of cancer genetic testing in the reproductive arena. In France
17 and Spain,
32 approximately half of health professionals surveyed are of the opinion that PND/PGD should be offered for
BRCA. In the United States, approximately half of gynaecological oncologists and obstetric/gynaecologists surveyed thought PGD appropriate for
BRCA; <20% reported that they were ‘knowledgeable' or ‘very knowledgeable' about PGD.
25 Interestingly, the proportions of surveyed health professionals who consider PGD acceptable are consistent with the proportions who view PND/TOP as acceptable for the same conditions. In the United Kingdom, data from clinical genetics units are lacking. Staff working at an assisted conception unit have concerns about the appropriateness of offering PGD for cancer but consider that patients' opinions should generally override professional concerns.
23Limitations
Our recruitment strategy aimed to include men, but only a small number were eligible and they declined participation. Given our finding that women choose
BRCA testing in order to guide risk management decisions, men may be less motivated to test presymptomatically at a relatively young age. Most men having
BRCA testing do so when they have children, limiting the number available. A recent study suggests that a minority of men would consider PGD for
BRCA.
37 This requires further research. Response rate was <50% among women, and hence the findings of this study may not reflect attitudes of all eligible women. The majority of our sample are of White British origin ethnicity, and although the RMH cohort included women of White non-British origin, it would be informative to explore these issues with a more ethnically diverse sample.
Implications for clinical practice
Women in our cohort had limited awareness of PND/TOP or of PGD for BRCA. Where they were aware, this was mostly as a result of media coverage, and a minority had actively sought information or referral for discussion of PGD. Up to now, genetic counselling regarding HBOC has concentrated on psychosocial adaptation and risk management. Our study shows that reproductive issues and options are very relevant and appropriate subjects for genetic counselling, particularly for younger carriers who have not begun or completed their families. The sensitivity and complexities of these issues, and the likelihood that they will require discussion with appropriately trained clinicians, may have presented barriers to raising them, but this situation is untenable in the light of the HFEA decision. Our results indicate a clear need for additional psychosocial support to help resolve these issues.
000, although funding may be available on the National Health Service. Female BRCA mutation carriers may have the additional risk of developing cancer because of controlled ovarian stimulation, although this is not yet quantified.