@misc{10481/73039,
year = {2021},
month = {12},
url = {http://hdl.handle.net/10481/73039},
abstract = {Background: Mutations in the genes called BRCA1 and BRCA2 are associated with significantly elevated
lifetime risk of developing breast and ovarian cancer. This year marks 25 years since genetic tests for
BRCA1/2 mutations became available to the public. Currently, comprehensive guidelines exist regarding
BRCA1/2 testing and preventive measures in mutation carriers. As such, BRCA1/2 testing represents a
precedent not only in genetic testing and management of genetic cancer risk, but also in bioethics. The
goal of the current research was to offer a review and an ethical primer of the main ethical challenges
related to BRCA testing.
Method: A systematic scoping review was undertaken following the PRISMA Extension for Scoping
Reviews (PRISMA-ScR). Four databases were searched and 18 articles that met the inclusion criteria were
synthetized narratively into a conceptual map.
Results: Ethical discussions revolved around the BRCA1/2 gene discovery, how tests are distributed for
clinical use, the choice to undergo testing, unresolved issues in receiving and disclosing test results,
reproductive decision-making, and culture-specific ethics. Several unique properties of the latest developments
in testing circumstances (e.g., incorporation of BRCA1/2 testing in multi-gene or whole
genome sequence panels and tests sold directly to consumers) significantly raised the complexity of
ethical debates.
Conclusions: Multidisciplinary ethical discussion is necessary to guide not only individual decision
making but also societal practices and medical guidelines in light of the new technologies available and
the latest results regarding psychological, social, and health outcomes in cancer previvors and survivors
affected by BRCA mutations.},
organization = {Juan de la Cierva Fellowship from the Ministry of Science},
organization = {National Research Agency of Spain (MCIN/AEI)	JC2019-039691-I},
publisher = {Elsevier},
title = {BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications},
doi = {10.1016/j.breast.2021.12.005},
author = {Petrova, Dafina and Cruz, Maite and Sánchez Pérez, María José},
}