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Annals of Oncology 22 (Supplement 1): i60i66, 2011

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

*Correspondence to: Antonella Surbone, Department of Medicine, Division of Medical


Oncology, New York University Medical School, 550 First Avenue, BCD 556, New York,
NY, USA. E-mail: antonella.surbone@nyumc.org

have significantly lowered the chance that high-risk women


develop the breast and ovarian cancers [6, 7].
Since the initial application of BRCA testing in research first,
and subsequently also in oncology practices, scientists,
physicians and bioethicists have consistently cared about the
medical and psychosocial well-being of mutation carriers, and
have cautioned the public about the limited predictive power of
genetic testing, especially outside high-risk families, due to the
relatively low gene penetrance, the possibility of new mutations
with different significance that are still to be identified, and the
role of environmental factors in cancerogenesis and tumor
progression. Furthermore, preventive and interventional
measures are still being developed and genetic testing carries
potentially negative psychosocial repercussions for individual
carriers and their families [8, 9].
The identification of DNA mutations predisposing to cancer
susceptibility is now expanding to include whole-genome
profiling for personalized approaches to cancer patients and
direct-to-consumer (DTC) genetic testing. Knowledge about
the ethical and juridical implications of genetic testing is
becoming essential for oncologists, who are being asked with
increasing frequency to counsel their patients with respect to
the medical, psychological and social repercussions of genetic
information, even when obtained outside the context of an
established patientdoctor relationship. Many articles and
reviews have addressed the main ethical and social implications
of BRCA testing [1018], including informed consent, privacy
and confidentiality, a persons right to know or not to know
their genetic information, carriers responsibility to share

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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.

Annals of Oncology

genetic information with relatives at risk, physicians duty to


warn relatives about familial risk, reproductive choices based
on preimplantation diagnosis, appropriate testing of children
and adolescents, equitable access to testing, disposition of
biological samples, and genetic discrimination. This article
focuses on issues of genetic responsibility and genetic
discrimination, which are now being revisited as the availability
of DTC genetic testing rapidly increases [19, 20].

is genetic information different from


other medical information?

genetic discrimination and legislative


efforts
Genetic discrimination against asymptomatic individuals or
their relatives on the basis of actual or presumed genetic
differences or characteristics has been a concern among women
with strong family histories of breast or ovarian cancer and
their oncologists, since genetic discrimination has occurred in
the past for non-oncologic diseases [2326]. BRCA mutation
carriers may also be subject to overt discrimination or to more
subtle forms of estrangement and rejection by their families or
communities, as being regarded as less-than-ideal partners or
parents [10, 15]. Many high-risk women refrain from being
tested, due to fear of discrimination by health insurance or by
actual or potential employers, or fearing discrimination against
their children [27]. Similar concerns have also been reported
among genetic experts and oncologists [28].

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People who refrain from being tested out of fears of


discrimination from insurers or employers may suffer damage
to their health due to forgoing preventative care measures,
monitoring, and/or other interventions that might follow from
testing. Health care delivery has been affected by fear of genetic
discrimination, as patients have sometimes paid out of pocket,
or used false names, or may have asked their doctors to omit
genetic information from their medical records. The threat of
genetic discrimination may have also hindered medical research
aimed at developing personalized medicine and new treatment
modalities for genetic diseases [29, 30].
Although documenting the exact magnitude of genetic
discrimination is an arduous task, cases have been reported in
the USA with regard to life and health insurance, the
employment market, and in access to higher education and
adoption [23, 26, 28, 31]. While some authors have pointed out
that societys concern for genetic discrimination may have been
excessive, the active engagement of medical and patient
organizations has positively influenced the recent development
of national and international efforts by legislators to regulate
the collection and use of genetic information and the
enactment of anti-discrimination legislation in the USA and
other countries [3234].
Various countries now have legislation and regulations to
protect against discrimination by insurance companies and in
the workplace. Belgium passed a genetic non-discrimination
law in 1990; other European nations followed suit [35, 36]. The
Biomedicine Convention of the Council of Europe and
UNESCO based their legislative efforts on considering
individual patients as the only subject of genetic information
and on explicitly recognizing the right not to know [35].
In 2008, the US Congress passed the Genetic Information
Nondiscrimination Act (GINA) to protect individuals against
discrimination by health insurers and employers on the basis of
genetic information [3742]. GINA prohibits insurance
companies from taking into account genetic conditions or
family history when determining risk assessment, thus
protecting mutation carriers from paying higher insurance
premiums or being denied health coverage. GINA also
prohibits employers from making employment and
promotional decisions based on genetic information, imposing
fines of up to $300 000 per violation.
GINA is, in large part, the result of the anticipatory work of
researchers and clinicians involved in the development of the
Human Genome Project, who raised concerns about the risk of
genetic discrimination at the outset of the project [38]. Among
common genetic tests protected by GINA are tests for BRCA1
and BRCA2 mutations and HNPCC mutations that predispose
to breast, ovarian, colon and other cancers, as well as tests that
help classify the genetic profile of an existing cancer. GINA thus
protects mutation carriers and facilitates research on the
biology and treatment of cancers associated with specific
genetic mutations [37, 38].
GINA does not regulate insurance underwriting based on
a persons current health status, does not mandate coverage for
any particular test or treatment, does not cover life, disability or
long-term care insurance and does not interfere with health
professionals recommendations for genetic testing to their
patients [37]. GINA does, however, substantially lower patients

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Genetic information refers to genetic testing for patients and/or


for family members up to fourth-degree relatives. A genetic test
is any analysis to detect genotypes, genetic mutations or
chromosomal changes, not including analysis of proteins or
metabolites directly related to a manifested disease. Genetic
information also refers to any manifestation of disease or
disorder in a family member, and/or to the participation of
a person or family member in research that involves genetic
testing, counseling or education. Genetic information thus has
unique aspects with respect to other medical information, as it
carries potential value, but also danger, for individuals other
than the person tested [21, 22].
This and other unique aspects of genetic knowledge have led
to genetic exceptionalism, the separate treatment of the ethical
and legal implications of genetic testing. Genetic exceptionalism
is a dangerous ethical position that can lead to segregation of
a group of persons at risk [22]. The application of the ethical
principles and methodologies used to analyze and resolve ethical
quandaries in medicine in general can be applied to the complex
questions of autonomy, privacy and responsibility raised by
genetic knowledge, as well as to the potential legal conflicts
surrounding genetic testing [8, 10, 14, 22].
Beyond the ethical and legal implications of genetic testing,
experts and the public have expressed different views on the
value of BRCA testing, from stressing the importance of genetic
knowledge for high-risk women as a means to enhance control
of their lives, to worrying about the potentially negative
repercussions of genetic information [10, 22].

symposium article

symposium article

DTC genetic testing: reviving the


ethical debate.
Cancer risk genomic profiling and DTC genetic testing raise
many of the same ethical concerns that were already addressed
above with regard to testing for genes and other tests of genetic
cancer predisposition. Additional concerns in DTC genetic
testing involve the major impact of economic factors that drive
individuals to be tested without proper understanding of the
meaning of genetic testing and its potential repercussions on
them and their family members [19, 20, 5153]. In addition,
the long-term psychological ramifications of genetic knowledge
not accompanied by proper counseling and medical follow-up
are still unknown, and patients privacy and confidentiality
about their genetic information will be difficult to safeguard
against potential exploitation by individuals and corporations.
Even with genetic non-discrimination legislation, mutation
carriers may find themselves ineligible for life insurance and/or
other long-term agreements. Other ethical and social concerns
regard the additional health-care costs associated with carrying
out the tests and dealing with the consequences of their
findings [19, 20, 5053].

i62 | Surbone

According to the American College of Medical Genetics,


genetic testing should be provided to the public only through
the services of an appropriately qualified health-care
professional, who should be responsible for both ordering and
interpreting the test, as well as for pre- and post-test counseling
and follow-up, as needed [19]. Thus, while individuals have
rights to undergo genetic testing, they should be fully informed
of its inherent risks and entitled to the confidentiality of the
testing and its results [5355]. Unfortunately, DTC genetic
testing is not accompanied by proper counseling, and
advertisements for DTC genetic testing are not subject to the
same degree of federal oversight as those for prescription drugs,
thus increasing the possibility of misleading the public and
physicians in the interest of profit [55].
DTC advertisements for genetic testing, based on the obvious
public fear of cancer, seem highly inappropriate, given the
publics limited understanding of genetics and the lack of
comprehensive oversight of the educational value of
advertisements regarding genetic testing [56]. A campaign to
increase awareness among consumers and physicians about
inherited susceptibility for breast and ovarian cancer, and about
the availability of genetic testing for these conditions could be
beneficial. As a consequence of insufficient clinician and/or
patient knowledge or understanding, in fact, inappropriate
referrals and misinterpretation of test results may occur, as well
as inappropriate medical decision making for the patient and
the entire family, including unnecessary health-care
expenditure, unneeded prophylactic surgery, or false
reassurance and less surveillance in women who are found not
to carry a BRCA mutation. Even well-meaning health-care
providers without specific training in genetics or genetic
counseling may also be manipulated into ordering genetic
testing or making inappropriate referrals [56].
DTC genetic testing may also include still unproven genetic
markers for common multifactorial diseases, such as breast
cancer. An important ethical issue is that some techniques may
identify, not diagnostic genetic variants, but surrogate genetic
markers, known as single-nucleotide polymorphisms (SNPs),
which are associated with a very small increased risk of disease
[57]. With regard to breast cancer, for example, the tests that can
be used to identify SNPs in the FGFR2 gene have been associated
with only a 1.2-fold increase in the risk of developing breast
cancer [52]. Among other pressing ethical questions are: who
should have their genome sequenced? who should prescribe the
test? who should provide pre- and post-test counseling? who
should have access to an individuals genetic information? and
what liability may physicians incur especially when treating more
members of one family? [20, 58]. Ensuring proper continuing
education for health-care professionals and implementing public
education policies are needed, along with standards for accurate
marketing of DTC genetic testing [20, 5860].

individual genetic responsibility and


professionals duty to warn: where do
we stand?
Two of the most controversial ethical issues surrounding
genetic testing for cancer predisposition are: (i) whether or not

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risk of genetic discrimination. As of writing, one claim of


genetic discrimination has been filed since GINA was approved,
by a BRCA-positive woman who allegedly lost her
position at work after undergoing bilateral prophylactic
mastectomy [43].
Genetic non-discrimination legislation is based on the fact
that individuals have no control over their genes. While also
persons with low or unknown genetic risk share the increased
health-care cost for carriers of genetic mutations, such
legislation may lead to decreased overall long-term health-care
costs, if prevention or early interventions prove to be costeffective. Given the lack of a clear definition of genetic test and
genetic data in the laws, however, and of a clear distinction
between genetic and non-genetic data in insurance practices,
the efficacy of genetic non-discrimination laws may not be as
complete as anticipated [44, 45]. It has been reported, for
example, that in European countries the enactment of genetic
non-discrimination legislation may have been less effective than
expected in regard to insurance practice, due to lack of clear
definitions of terms and boundaries between genetic and nongenetic tests and data, thus providing only the illusion of
protection [36]. In addition, legislation may unintentionally
have fostered increased discrimination against patients whose
illnesses are related to lifestyle risks that are assumed to be
under the control of the individual [7, 46]. As the interaction
of genetic and environmental factors is not yet fully
understood for many pathologic entities, increasing the
burden of personal responsibility for high-risk takers may
represent a shifting of discriminatory attitudes from one
group of potential patients to another [36]. The ultimate
response to discrimination involves deep cultural changes,
beyond legal and regulatory issues, to foster a nondiscriminatory approach to all illnesses and disabilities [26,
4749]. As Billings wrote in 2008, antidiscrimination laws are
only effective as guideposts to better understanding and
tolerance [50].

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Volume 22 | Supplement 1 | January 2011

about whether relatives would wish to be informed [72, 7476].


Personal or gender differences in communication preferences
and styles can contribute to patients initial decisions not to
share genetic information with others, and cross-cultural
differences in ethical norms and legal requirements may
influence public attitudes and decisions to disclose [7681]. At
the individual level, personal context, perception of personal
risk, perceived or actual vulnerability and receptivity of
relatives, content and timing of communication and personal
feelings all shape individual response to whether and when to
share genetic information with at-risk relatives. At the familial
level, proximity of relationship to ones relatives, family
structure and interpersonal dynamics and prior familial
experiences with cancer account for great variability in
disclosure preference. At the community level, cultural context
and roles, as well as gender and age, play an important role in
communication patterns [76].
As progress is being made in our ability to prevent or
ameliorate with medical or life-style interventions the many
pathologic conditions that can be revealed through genetic
testing, the number of relatives who would wish to be informed
is growing in many countries. Physicians thus increasingly face
the challenge of making judgments about when it may be
appropriate to breach confidentiality on the basis of knowledge
about risks and risk-reduction measures [82]. Health
professionals will also require training and support in
discussing genetic risks with their patients and the importance
of sharing results with at-risk family members, as well as in
responding to relatives questions with respect for the
complexity of intrafamilial communication dynamics [76].
In the UK, the General Medical Council has issued guidelines
urging physicians to judge whether their duty to make the care
of the patients their first concern is greater than their duty to
help protect the other person from serious harm [58, 83]. This
quandary may be exacerbated when physicians are caring for
different members of the same family. Most international
medical organizations and professional ethics codes support the
notion that health professionals obligation is toward the
patient, unless there is a risk of serious harm to others [8, 35,
62, 65]. If interventions could prevent potentially serious
medical conditions, however, physicians may have to consider
overriding confidentiality, and must also reflect on their
potential future liability in regard to those family members
[58]. It has been suggested that certain genetic information may
be seen not only as the result of an individuals test subject to
full confidentiality, but also as part of a familial joint account
open to being used in guiding treatment or testing for the
benefits of other family members, even when not meeting the
seriousness criterion [84]. The recent presentation and
discussion of two clinical cases by Parker and Lucassen
powerfully illustrates a contemporary diagnostic dilemma, in
which the gene penetrance and the interaction of genetic and
environmental factors on the one hand, and the magnitude of
risk reduction with available interventions on the other, are
difficult to assess in many cases of positive genetic testing [58].
Difficult decision making on how to manage genetic
information in patients and their relatives is bound to increase
for all physicians and for clinical oncologists in particular. The
first and essential step is to explain to patients the nature of the

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individuals have a responsibility to acquire genetic knowledge


and to share positive results with family or community
members at risk [61]; (ii) whether or not health professionals
have a responsibility to disclose relevant genetic information to
their patients relatives; and (iii) how they should best counsel
those mutation carriers who may decide not to share genetic
information [6265].
Genetic responsibility toward oneself and others is a highly
debated implication of genetic testing for cancer predisposition.
Genetic links in high-risk families would appear to be
associated with moral obligations that go beyond those related
to individual autonomy [61, 66]. In addition, the questions of
whether and when to share genetic information requires broad
consideration of the boundaries between individual and
community rights and a reappraisal of the notion of autonomy
as relational [66, 67]. Understanding autonomy in a relational
way entails recognizing the internal and external factors that
shape our decision making and the responsibilities that arise
from our connections to others, as well as acknowledging the
cultural, socio-economic and contextual aspects of patients
decision making [6668]. Yet it seems medically premature to
consider genetic testing as a necessary step for people to take in
regard to their future health status [69]. In addition, the
psychological and social ramifications of genetic testing are so
complex that questions about whether and when to be tested
are legitimate ones [69].
In the ethical and medical literature, there is general
agreement that genetic information, by virtue of its potential
repercussions on the health of an entire family or community,
reminds us of the ties we have with each other. Thus there is
a compelling moral argument for affirming the importance of
sharing genetic information with relatives who may potentially
be at risk [61]. Most clinicians also support the view that
individuals have a right not to know and that this right is
a correlate of the right to know, in regard to both policy
making and genetic counseling. They thus believe that they
must continue to respect patients autonomy and
confidentiality, in order to establish and maintain the trust
between clinicians and patients that is key to the therapeutic
relationship [8, 10, 6972]. Some authors, however, have
argued that the right not to know (or not to share) genetic
information is equivalent to an irresponsible right to
ignorance that may lead to imprudent decisions and cause
harm to oneself and others [61, 71]. Others have appealed to
legal cases, such as the Tarasoff precedent, to advocate for
physicians duty to warn families about genetic risks, stirring an
intense debate about the application of legal precedents to
genetic testing for cancer predisposition [18, 70, 73].
In the USA, the Health Insurance Portability and
Accountability Act (HIPPA) reinforces the ethical and legal
value of confidentiality. In addition, most medical associations
agree that while physicians have a duty to advise patients of the
relevance that genetic information can have to their relatives,
and therefore of the importance to share such information, they
do not have a duty to breach patient confidentiality and warn
their patients relatives directly [62].
Studies have shown that some mutation carriers prefer not to
share their genetic knowledge with family members due to
estranged relationships, unresolved conflicts or uncertainties

symposium article

symposium article
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].

Genetic knowledge can be perceived either as a means to


enhance control of persons lives or as a sign of predestination
written in a mysterious future diary [13, 20]. We therefore
need to create a culture of tolerance, based on appreciation of
all differences, including genetic ones, as an enriching, rather
than impoverishing, element of human society. With respect to
breast cancer, a disease that ranks as second cause of cancer
mortality in women, we must concentrate on identifying new
genetic mutations that predispose patients to breast and other
cancers. We must also become versed in new molecular entities
associated with differential prognosis and response to
antineoplastic therapies in order to refine our predictions and
tailor treatments in a personalized approach to our patients
[85].
The introduction of DTC genetic testing and wholegenome profiling brings new hopes, but they introduce new
ethical consideration, from monitoring the role of economic
interests to the impact on the patientdoctor relationship in
terms of confidentiality and privacy. In the future, oncologists
will be increasingly asked to comment on genetic tests that
they may not have ordered. This will require continuous
update in ones medical education as well as revision, from
time to time, of regulations and legislation. New variables
related to scientific and technological progress need to be
carefully evaluated and openly debated not only within the
scientific and legal communities but also within a more open
forum.
Genetics reminds us of our connectedness to our fellow
human beings. It prompts a reappraisal of the notions of
individual and relational autonomy from which all of us, as
physicians or as actual or potential carriers of genetic mutations
predisposing to cancer susceptibility, may benefit in our moral
understandings. As we enter the era of personalized medicine
based on genomic profiles, we must continue to assure the
safety, reliability and clinical value of all genetic tests offered.
We must also be engaged in protecting patients, their families,
and the public from untoward social and ethical consequences
of genetic testing by adopting and acting on a balanced, nondeterminist, view of genetic information.

i64 | Surbone

disclosures
The author declares no conflict of interest.

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Volume 22 | Supplement 1 | January 2011