P-738 Attitude of BRCA1/2 mutation carriers towards fertility preservation, family planning and preimplantation genetic testing (PGT) for the next-generation primary prevention of breast and ovarian cancer
Authors: Nahshon C , Oron G , Kugelman N , Younes G , Lavie O 
Published: June 2023

Study question

What is BRCA1/2 mutation carriers' attitude toward preimplantation genetic testing (PGT) in attempt to prevent their offspring burden that comes with a known mutation status?

Summary answer

Less than ten percent of BRCA1/2 mutation carriers chose to perform PGT to avoid the birth of a child who is also a carrier.

What is known already

BRCA1/2 mutation carriers encounter many dilemmas during their life such as whether to undergo fertility preservation, when and how to plan their family, when to undergo risk reduction surgeries and whether to perform PGT for the selection of non-carrier embryos. Awareness and attitudes toward PGT are different across countries and has been shown to be associated with the degree of suffering from the knowledge of being a carrier, from personal or familial BRCA1/2 associated breast and ovarian cancer.

Study design, size, duration

This cross-sectional study was conducted by the distribution of an anonymous questionnaire in BRCA1/2 carriers social media platforms and clinics from August 2022 to January 2023.

Participants/materials, setting, methods

Female respondents of the questionnaire with a positive germline BRCA1/2 mutation at any age or marital status.

Main results and the role of chance

The questionnaire was completed by 494 BRCA1/2 mutation carriers. The median age of responders was 43 years old (range 22-79), 90% of them Ashkenazi (full or partial) Jewish ethnicy. 63% of patients were carriers of the BRCA1 mutation, while 37% were carriers of the BRCA2 mutation. 76% of patients became aware of their mutation status following a family history of malignancy. 35% of responders did not have children at the time of mutation discovery. 15% of patients had a fertility issue regardless of their BRCA mutation status. Following mutation discovery, 38% of responders changed their family planning, mostly choosing to have children earlier in life or to have less children than planned. 28% of BRCA carriers have been discussed about their option for fertility preservation and 11% underwent the oocyte or embryo vitrification. 45% of BRCA carriers admitted they have discussed the option of PGT and only 8% underwent the in vitro fertilization and preimplantation genetic testing to select non- carrier embryos. 14% of responders were firmly against the option of PGT. The need for fertility treatment regardless of the mutation status did not significantly change the PGT performance rates (p = 0.09).

Limitations, reasons for caution

This study’s limitations mostly stem from online distribution of the questionnaire. Responders' bias may cause an overestimation of treatment rates as responders may be those who encounter their physicians more frequently and maintain their follow-up as recommended. Nevertheless, the study represents 494 BRCA1/2 carriers and portrays an important healthcare view.

Wider implications of the findings

Physicians should discuss PGT, family planning and fertility preservation options with BRCA1/2 carriers enabling a personal based decision. It seems that among BRCA carriers, known mutation status largely affects family planning and to a much lesser degree affects fertility preservation and performance of PGT to select non carrier offsprings.

Trial registration number

Not applicable