Hum. Reprod. Advance Access originally published online on December 26, 2008
Human Reproduction 2009 24(4):1000-1006; doi:10.1093/humrep/den471
Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort
1 Medical Oncology Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain 2 Cancer Genetic Counselling Program, Catalan Institute of Oncology, Girona, Spain 3 Medical Oncology Department, Hospital Sant Joan de Reus, Spain 4 Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain 5 Girona Biomedical Research Institute, Girona, Spain
6 Correspondence address. High Risk and Cancer Prevention Unit, Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Tel: +34-93-2746085; Fax: +34-93-2746059; E-mail: jbalmana{at}vhebron.net
BACKGROUND: Mutations in breast cancer BRCA1/2 genes increase breast and ovarian cancer risk and are transmitted with an autosomal dominant pattern. Opinion about reproductive decisions among individuals undergoing BRCA1/2 testing in our institutions is unknown.
MATERIALS AND METHODS: Individuals (n = 77) undergoing BRCA1/2 testing were included in a prospective multicentre study to assess the clinical impact of genetic testing. Demographic and clinical information, psychological status and opinion about reproductive decisions were collected in two questionnaires administered prior to testing. Opinion regarding the use of assisted reproduction techniques for hereditary cancer susceptibility among health care professionals was also collected.
RESULTS: Twenty-eight individuals (36%) reported that they would decide to have children, regardless of their result. In case of a mutation, 9 (12%) believed that they would decide not to have children, 42 (55%) would consider prenatal diagnosis (PND), 37 (48%) would consider preimplantation genetic diagnosis (PGD) and 23 (30%) would consider adoption. Fifty-seven (74%) and 47 (61%) reported that they considered it ethical to offer PND or PGD, respectively, to BRCA+ patients. Individuals older than 40 years were more likely to consider PND or PGD than younger subjects (P = 0.02 and 0.05, respectively). Individuals with cancer compared with those without a diagnosis of malignancy were more likely to consider PGD (61 versus 30%, P = 0.02) and to consider that it was ethical to offer it (74 versus 44%, P = 0.02). Most health care professionals were in favour of PND and PGD for individuals with hereditary cancer susceptibility (58 and 61%, respectively).
CONCLUSIONS: BRCA1/2 genetic results could influence an individual's decisions regarding reproduction. Health care professionals who serve individuals undergoing BRCA testing should incorporate patient education regarding the potential impact of such testing on family planning.
Key words: assisted reproduction/counselling/gene mutations/ethics/prenatal diagnosis
Submitted on October 17, 2008; resubmitted on November 21, 2008; accepted on December 5, 2008.