Preimplantation And Prenatal Testing For Hereditary Breast Cancer

Another emerging issue concerns the use of preimplantation genetic diagnosis (PGD) (89) and prenatal diagnosis for hereditary cancer syndromes. A recent review of this issue cited 55 reports of testing for these purposes (90). Both technologies have been utilized in families with Li-Fraumeni syndrome, and PGD has been used by parents at risk for having a child with a BRCA1/2 mutation (90). The ethical issues raised by these procedures share some similarities but also have some unique features. The option of prenatal diagnosis raises the question of appropriate use of this technology. In most developed countries, the offer of prenatal diagnosis and selective termination is generally considered acceptable when the condition is a childhood onset disorder with significant morbidity and premature mortality. In contrast, the application of prenatal diagnosis to a disorder such as hereditary breast/ovarian cancer syndrome is controversial. In the case of PGD, the strongest argument in favor of its utilization is one of parental autonomy, as with other reproductive choices within parents' purview. However, this technology is expensive and is cost prohibitive for many individuals, thus raising the issue of justice and fair access (90). One approach taken in countries outside the United States is to create oversight committees that review requests for PGD and determine acceptable use of PGD and prenatal diagnosis. Recently, the Human Fertilisation and Embryology Authority (HFEA) in the U.K. approved PGD for BRCA1 and BRCA2 mutations (91). In the United States, however, these services are unregulated, with use determined primarily by professional standards and the preferences of parents who have the ability to pay for such services. In countries without regulation, ethical resolutions are left largely to individual discretion.

Offit et al. raise the thorny issue of whether healthcare providers have a legal obligation to explain options for assisted reproduction to individuals with gene mutations associated with cancer syndromes, as part of their "duty to warn" (90). For example, it has been recommended that BRCA2 testing be offered to Ashkenazi Jewish reproductive-age partners of an individual with a BRCA2 mutation because of the observation that two deleterious mutations in this gene may be associated with Fanconi anemia, early onset brain tumors, and other malignancies (92). It is unclear whether there would be legal implications around the issue of wrongful birth if patients were not informed of available means to identify and potentially avoid the birth of a child with a cancer predisposition syndrome (90).

Although prenatal and preimplantation testing for hereditary cancer syndromes are not highly in demand at present, and it is not standard practice to offer these options, clinicians should be prepared to discuss options available to individuals and couples when the question arises and to help them clarify their values and preferences with respect to reproductive decision-making.

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