BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications
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 reg...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-02-01
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| Series: | Breast |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0960977621010110 |
| _version_ | 1798031246976090112 |
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| author | Dafina Petrova Maite Cruz María-José Sánchez |
| author_facet | Dafina Petrova Maite Cruz María-José Sánchez |
| author_sort | Dafina Petrova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T19:54:25Z |
| format | Article |
| id | doaj.art-127868209ba842dbb18cee22e6c60073 |
| institution | Directory Open Access Journal |
| issn | 1532-3080 |
| language | English |
| last_indexed | 2024-04-11T19:54:25Z |
| publishDate | 2022-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Breast |
| spelling | doaj.art-127868209ba842dbb18cee22e6c600732022-12-22T04:06:12ZengElsevierBreast1532-30802022-02-01616676BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implicationsDafina Petrova0Maite Cruz1María-José Sánchez2Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain; Escuela Andaluza de Salud Pública, Granada, Spain; CIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain; Corresponding author. Escuela Andaluza de Salud Pública, Cuesta del Observatorio 4, Granada, Spain.Escuela Andaluza de Salud Pública, Granada, SpainInstituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain; Escuela Andaluza de Salud Pública, Granada, Spain; CIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain; Department of Preventive Medicine and Public Health, University of Granada, Granada, SpainBackground: 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.http://www.sciencedirect.com/science/article/pii/S0960977621010110 |
| spellingShingle | Dafina Petrova Maite Cruz María-José Sánchez BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications Breast |
| title | BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications |
| title_full | BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications |
| title_fullStr | BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications |
| title_full_unstemmed | BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications |
| title_short | BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications |
| title_sort | brca1 2 testing for genetic susceptibility to cancer after 25 years a scoping review and a primer on ethical implications |
| url | http://www.sciencedirect.com/science/article/pii/S0960977621010110 |
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