Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations

Abstract

Background Studies show that BRCA1/2 mutation carriers are interested in learning about reproductive options such as pre-implantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychosocial issues. This complexity, plus the highly technical nature of PGD, makes it difficult to integrate PGD information into genetic counseling sessions that already cover probabilistic, emotionally-charged risk information. Method Thirty-three reproductive age BRCA1/2 mutation carriers who had previously undergone genetic counseling viewed a tutorial about PGD and were interviewed about attitudes towards PGD, and preferences about how to include PGD information in genetic counseling. Results Most participants preferred to be briefly informed of availability of PGD information, and to receive written materials about PGD, but with the option of deferring detailed discussion if they already feel overloaded or perceive that PGD is not immediately relevant to their risk management and/or childbearing plans. For some, the stress of testing temporarily interfered with information processing, producing states of cognitive avoidance (“in a fog,” “tuning out”). Some preferred to discuss PGD with a physician with whom they had an ongoing relationship (e.g., OB/GYN, primary care provider, oncologist). Conclusions Providers offering cancer genetic testing can consider indicating availability of PGD information, while attending to patients’ level of interest and ability to absorb information. Research is needed to link patient responses to information overload to psychosocial outcomes (e.g., distress, decision quality). Continuing medical education is needed to support providers in facilitating informed decisions about PGD.

Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers

“…Our results reflect previous research (Hurley et al 2012) and strengthen our assessment that the patient may not be able to internalize the PGD option at that time of receipt of genetic results. The difference between hypothetical and actual use is a recognized limitation in studies regarding use of PGD (Ormondroyd et al 2012).…”

“…Yet, approximately 22% of the nPGD group claimed to have received no previous information regarding reproductive options. In a qualitative study investigating 33 BRCA1/2 female and male mutation carriers' counseling experience of how to integrate PGD information into the counseling process (Hurley et al 2012), one of the themes expressed was the concern about Boverload^if detailed information about PGD were added to their genetic counseling sessions. For some, the feeling of being overloaded reflected the volume of information covered during the sessions, resulting in some information loss.…”

Genetic counselors' preferences for coverage of preimplantation genetic diagnosis: A discrete choice experiment

“…Identification of potential attributes and levels were generated through a literature review using published and gray literature. Relevant studies were identified in Embase, Medline, Google Scholar, public infertility/IVF sites and governmental sites with key terms “PGD,” “preferences,” “policy,” and “genetic counselors.” Five relevant studies were found from which potential attributes and levels were extracted for discussion in two focus groups held with Toronto‐area GC. For the first focus group, PGD characteristics were discussed openly without prompting from the literature review to ensure that all important PGD characteristics were captured.…”

Impact of Breast Cancer Treatment on Fertility

“…A qualitative study of patient preferences in 33 BRCA1/2 US mutation carriers undergoing genetic counselling showed the majority of participants preferred to be informed of the availability of PGD but also deferred detailed discussion [ 63 ]. In a similar survey conducted in 77 Spanish individuals, 61 % considered ethical to offer PDG, 55 % would contemplate prenatal diagnosis (PND), 48 % PGD, and 30 % adoption [ 64 ].…”