Beruflich Dokumente
Kultur Dokumente
doi:10.1093/annonc/mdq668
symposium article
Social and ethical implications of BRCA testing
A. Surbone*
New York University Medical School, New York, USA
symposium
article
introduction
Breast cancer is highly prevalent and is the second cause of
cancer death in women. In the USA, 180 000 American
women were diagnosed with invasive breast cancer in 2007 and
another 62 000 with in situ or non-invasive breast cancer, while
>40 000 women were expected to die from breast cancer in the
same year [1]. In 2007, 22 500 women were diagnosed with
ovarian cancer, accounting for 3% of all cancers among
women, and 15 280 women were projected to die from ovarian
cancer [1]. Only 10% of all breast cancer is hereditary, and <1%
of the general population is estimated to carry a mutation in
BRCA1 or BRCA2. BRCA mutations are associated with
a relative increased lifetime risk of breast cancer of 2.76.4
times, and a relative lifetime risk of ovarian cancer of 9.335.3
times greater than average risk women [2, 3].
Women who carry a BRCA mutation are given options of
early and intensive surveillance, chemoprevention and
prophylactic surgery. Oncologists and geneticists help women
understand the risk their BRCA status represents for them and
their relatives. They also identify and address biopsychosocial
factors that may foster womens adherence to preventive and/or
risk-reducing strategies, in order to reduce the morbidity and
mortality associated with hereditary or familial cancers [4, 5].
Available risk reduction options in the past 15 years seem to
The Author 2011. Published by Oxford University Press on behalf of the European Society for Medical Oncology.
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Oncologists are asked with increasing frequency to counsel their patients with respect to the medical, psychological
and social repercussions of genetic testing for cancer susceptibility that may have been prescribed by physicians or
carried out through direct-to-consumer tests. This article critically reviews the main ethical and social implications of
BRCA testing, focusing on genetic responsibility and genetic discrimination. Genetic responsibility toward oneself and
others is a highly debated implication of genetic testing for cancer predisposition that requires broad considerations of
the boundaries between individual and community rights and a reappraisal of the notion of autonomy as relational.
Physicians duty to warn at risk relatives can be an ethical quandary, yet confidentiality is key to the patientdoctor
relationship. Mutation carriers may be subject to different forms and degrees of genetic discrimination and many
individuals at risk have forgone BRCA testing to avoid potential discrimination. The scientific and medical community,
together with patients and the public, has actively engaged against genetic discrimination. The legislation in many
countries now protects against genetic discrimination by insurance companies and employers. Legal and regulatory
issues are not the final answer to discrimination and profound cultural changes are required to create understanding
and acceptance of all differences.
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genetic information and its potential relevance to their families,
while refraining from being judgmental about some patients
preferences not to know or not to disclose genetic information
[8, 74]. Over time, physicians may explore with their patients
their motivations related to the nature, meaning and relevance
of a positive genetic test and communication of test results to
family members. Through repeat encounters and through
proper counseling referrals, often patients reach a deeper
understanding of the implications of genetic testing and come
to the decision to share relevant information with other family
members. This, however, may not be the case when patients
and families belong to cultures in which cancer is still
a metaphor of death or of shame and guilt. In such instances,
oncologists should work as part of a team in trying to convey to
their patients a more realistic view of cancer as a potentially
curable or chronic illness, worth preventing or treating as early
as possible [80, 81].
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disclosures
The author declares no conflict of interest.
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