A significant proportion of patients who pursue testing for BRCA gene alterations are of reproductive age. Many are actively engaged in decisions about family planning or will be in the future. A prime concern of this population is minimizing the impact of hereditary cancer on their children. Genetically-enhanced assisted reproductive technologies (ART), such as preimplantation genetic diagnosis (PGD), as well as prenatal diagnosis (PND) followed by consideration of selective abortion, may enable individuals and couples to avoid passing genetic mutations on to their children. However, their use for later onset, potentially treatable or preventable conditions such as hereditary breast/ovarian cancer, raises new ethical and social questions and concerns. The objective of this investigation is to explore BRCA1/2 mutation carriers'attitudes towards the use of PND and PGD. The investigators seeks (1) to develop a patient-centered understanding of the benefits and drawbacks of PND/PGD, (2) to explore the ethical and social acceptability of each technology to screen for BRCA1/2 mutations, and (3) to elicit patient opinions about the presentation of ART in genetic counseling. Approximately 30 BRCA mutation carriers of reproductive age will be presented a brief, standardized educational presentation on reproductive options for BRCA gene alteration carries, including discussion of PND/PGD followed by an in-depth, semi-structured interview addressing childbearing plans, and attitudes towards the use of PND and PGD to screen for BRCA gene alterations. Participants will also complete a brief questionnaire before and after the education session to assess awareness (pre) and understanding of core concepts (post). A team of qualitative research experts will analyze interview data using grounded theory techniques. Findings will contribute to the current ongoing debate among clinical genetics and associated professionals regarding the role of ART in managing the impact of BRCA1/2 alterations on patients and their families. At present, there is considerable interest and concern about the integration of ARTs and genetic technologies, particularly PGD of late onset, treatable disease (cancer) in the United States, where the regulatory environment (or lack thereof) raises special concerns. Members of the research team have been active in the past decade in building consensus and shaping policy regarding use of genetic testing for cancer risk. Our future plans for research include a parallel study of genetic counselor's attitudes regarding PND/PGD for BRCA, assessing their experience with patients considering these procedures and their ideas about whether and how reproductive options should be integrated into genetic counseling sessions. The current study, coupled with a complementary study of genetic counselors, will be disseminated through the team's participation in key organizations such as the American Society of Human Genetics (ASHG, National Society for Genetic Counseling (NSGC), American Society for Clinical Oncology (ASCO) and others that have a stake in developing professional and informed consent guidelines regarding the use of ART for adult onset cancer syndromes.
The study aims to elicit BRCA1/2 gene mutation carriers'attitudes towards the use assisted reproductive technologies (ART) to screen for BRCA mutations, focusing specifically on beliefs about their ethical and social acceptability. This study meets ELSI's goal of studying the translation of genetic technologies into improved health. Findings from this study will inform development of professional guidelines regarding the use of genetically-enhanced ART for adult onset hereditary cancer syndromes, and may provide physicians, genetic counselors and mental health professionals with a template for discussing deeply personal and highly emotional decisions about assisted reproduction.
| Rubin, Lisa R; Werner-Lin, Allison; Sagi, Michal et al. (2014) 'The BRCA clock is ticking!': negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis. Hum Fertil (Camb) 17:159-64 |
| Werner-Lin, Allison; Rubin, Lisa R; Doyle, Maya et al. (2012) ""My funky genetics"": BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies. Fam Syst Health 30:166-80 |
| Hurley, Karen; Rubin, Lisa R; Werner-Lin, Allison et al. (2012) Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: a qualitative study of patient preferences. Cancer 118:6270-7 |
