Reproductive Decision-Making Among BRCA1/2 Pathogenic Variants Carriers and Physicians: Attitudes Toward...

Area of Science:

• Reproductive genetics
• Oncology
• Medical ethics

Background:

• BRCA1/2 pathogenic variants significantly increase hereditary cancer risk.
• Reproductive options like PGT-M and PND are available for carriers.
• Knowledge and attitudes regarding these options among carriers and clinicians require investigation.

Purpose of the Study:

• To assess awareness and attitudes of BRCA1/2 carriers and gynecologists towards PGT-M and PND.
• To identify barriers and facilitators for discussing reproductive genetic testing options.

Main Methods:

• A survey was conducted using structured questionnaires.
• Participants included 89 BRCA1/2 carriers and 37 gynecologists.
• The survey assessed awareness, attitudes, and ethical concerns related to PGT-M and PND.

Main Results:

• Before information, only 28% of carriers knew about PGT-M and PND.
• Post-information, most carriers (87.6% PGT-M, 85.7% PND) supported discussing these options.
• Gynecologist awareness of PGT-M/PND for BRCA carriers was inconsistent (45.9%/51.4%), with infrequent routine discussion.
• Both groups expressed ethical concerns; clinicians (86.5%) called for clearer guidelines and collaboration.

Conclusions:

• A significant gap exists between BRCA carriers' reproductive preferences and healthcare professionals' current knowledge and practices.
• Enhanced education for healthcare providers is crucial for effective reproductive counseling.
• Development of clear guidelines and a multidisciplinary approach are essential to support informed decision-making for BRCA mutation carriers.