International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk

Abstract

Familial cancer services have been developed in many countries in response to a rapidly evolving demand for genetic counseling and testing for breast cancer risk. This article presents a synthesis of the literature on international aspects of genetic counseling and testing and discusses similarities and differences in the provision of genetic counseling and testing, taking seven countries with well established familial cancer services as a case study (Australia, Canada, France, Germany, Netherlands, UK and US). Potential international differences are discussed in terms of: provider and patient attitudes to genetic counseling and genetic testing; utilization rates of genetic testing and prophylactic surgery; and the psychological impact of genetic testing for breast cancer risk. The comparative analyses of utilization rates and the psychological impact of testing indicate a wide range of variability in uptake rates and psychological outcomes, most likely reflecting sample variability and methodological differences in measurement. International comparison studies using controlled designs would be required to ascertain whether international differences exist, and to disentangle the differential role of clinical, individual and family context factors, on the one hand, and the cultural and health system-related factors unique to particular countries, on the other.

Full text

Breast Disease 27 (2006,2007) 109–125 109
IOS Press
International Perspectives on Genetic
Counseling and Testing for Breast Cancer
Risk
Bettina Meisera,∗, Clara Gaffb, Claire Julian-Reynierc, Barbara B. Bieseckerd, Mary Jane Esplene,
Andrea Vodermaierfand Aad Tibbeng
aPsychosocial Research Group, Department of Medical Oncology, Prince of Wales Hospital, Dickinson 3,
Randwick, NSW 2031, Australia
bInstitute of Medical Genetics, Cardiff University, UK. Genetic Health Services Vict., Victoria, Australia
cINSERM UMR379, Research Unit on Epidemiology and Social Sciences applied to Medical Innovation,Marseille,
France
dSocial and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
eMary Jane Esplen, Behavioral Sciences and Health Division, Toronto General Research Institute, University
Health Network, 200 Elisabeth St., EN9-242b, Toronto, Ont., M5G 2C4, CA, Canada
fDepartment of Obstetrics and Gynaecology University of Munich, Grosshadern, Marchioninistr. 15, 81377
Munich, Germany; and Toronto General Research Institute, University Health Network, 200 Elisabeth St.,
EN9-242b, Toronto, Ont., M5G 2C4, CA, Canada
gCentre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Abstract. Familial cancer services have been developed in many countries in response to a rapidly evolving demand for genetic
counseling and testing for breast cancer risk. This article presents a synthesis of the literature on international aspects of genetic
counseling and testing and discusses similarities and differences in the provision of genetic counseling and testing, taking seven
countries with well established familial cancer services as a case study (Australia, Canada, France, Germany, Netherlands, UK
and US). Potential international differences are discussed in terms of: provider and patient attitudes to genetic counseling and
genetic testing; utilization rates of genetic testing and prophylactic surgery; and the psychological impact of genetic testing for
breast cancer risk. The comparative analyses of utilization rates and the psychological impact of testing indicate a wide range of
variability in uptake rates and psychological outcomes, most likely reflecting sample variability and methodological differences
in measurement. International comparison studies using controlled designs would be required to ascertain whether international
differences exist, and to disentangle the differential role of clinical, individual and family context factors, on the one hand, and
the cultural and health system-related factors unique to particular countries, on the other.
Keywords: Genetic testing, genetic counseling, hereditary breast cancer, international differences
∗Corresponding author: Bettina Meiser, Psychosocial Research
Group, Department of Medical Oncology, Prince of Wales Hospital,
Dickinson 3, Randwick, NSW 2031, Australia. Tel.: +61 2 9382
2638; Fax: +61 2 9382 3372; E-mail: b.meiser@unsw.edu.au.
INTRODUCTION
Familial cancer services have been developed in
many countries in response to a demand for genetic
counseling and testing for breast cancer risk that has
been increasing rapidly, particularly since the identifi-
cation of the BRCA1 and BRCA2 (BRCA1/2) genes just
over ten years ago. In New South Wales, Australia, for
0888-6008/06,07/$17.00 2006,2007 – IOS Press and the authors. All rights reserved

110 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
example, the demand for cancer services has increased
tenfold since 1997 [92], and the rise in demand has
been similarly steep in other countries [102]. Health
services in many countries have been very responsive to
the increased requests of families with hereditary breast
cancer for genetic counseling and testing [129]. The fa-
milial cancer services established in different countries
share some features, while also exhibiting differences
that reflect the unique health system requirements, and
the medicolegal and cultural context of each nation.
In this article we will be presenting a synthesis of the
literature on international aspects of genetic counseling
and testing and be discussing similarities and differ-
ences in the provision of genetic counseling and test-
ing, taking seven countries with well established famil-
ial cancer services as a case study (Australia, Canada,
France, Germany, Netherlands, UK and US). Rather
than attempting to provide a comprehensive review, we
will present our interpretation of the most salient and
practical literature. Other reports on differences in ge-
netic counseling service provision for hereditarycancer
risk within the European context are available [44,45],
and a more detailed description of the service of genetic
counseling in general (not specifically related to cancer
genetics) in different countries is also available [11].
INTERNATIONAL DIFFERENCES IN
GENETIC COUNSELING SERVICE DELIVERY
Differences in Genetic Counseling and Service
Delivery
Several key differences exist among countries in how
genetic counseling services for breast cancer risk are
being delivered, and these variations have the potential
to have an impact on patient outcomes. Table 1 pro-
vides a comparison of three key dimensions of service
delivery: the referral systems for genetic counseling,
the cost factors involved and the professional back-
grounds of providers of genetic counseling for breast
cancer risk in each country. Guidelines about referral
criteria as well as referral systems for genetic coun-
seling and testing vary internationally [9,20,29,90,91,
115,116]. For example, in some countries referral by a
physicianis necessary (Australia,Canada, Netherlands,
UK), whereas in other countries (Germany, France,
US) patients can have direct access. In all countries,
except the US, genetic counseling is provided free of
charge to patients. With the exception of Germany,
where genetic counseling is exclusively provided by
human geneticists (physicians) or applied human ge-
neticists (biologists), genetic counseling in other coun-
tries is provided by medically qualified practitioners
with specialist training in clinical genetics (Australia,
Canada, France, Netherlands, UK) or in both genetics
and oncology (France), alongside genetic counselors,
who generally have postgraduate training to M.Sc. lev-
el (Australia, Canada, France, Netherlands, UK). In
a smaller number of cases, genetic counselors have a
nursing background with or without a M.Sc. (Aus-
tralia, Canada, Netherlands, UK). In the US, cancer
genetic counseling is offered by oncologists, surgeons
and radiologists working with genetic counselors with
master’s level training and, less commonly, oncology
nurses with specialty training in genetics or genetics
nurses with specialty training in oncology.
International Differences in Patient and Provider
Attitudes Towards Genetic Counseling
Very little is known about whether international dif-
ferences exist in provider and patient attitudes toward
genetic counseling for breast cancer risk. Most of what
is known about patient attitudes comes from surveys of
women who attended familial cancer clinics in Cana-
da [86], the Netherlands [13,117], the UK [17,39] and
France [49,52]. Considerable similarities exist in the
self-reported reasons by women in different countries
for attending familial cancer clinics; the most highly
endorsed motives include: receiving information about
personal risk and risk to other family members, and
obtaining genetic testing and breast screening or pre-
vention [13,17,39,49,52,86,117].
By contrast, a smaller number of studies, which were
undertaken in Australia [68], the UK [72,87,88], and
the US [1,34,110] are available on providers’ attitudes
toward genetic counseling for cancer risk. However, it
is unknown to what extent providers in different coun-
tries agree on the main issues that should be covered
in genetic counseling for hereditary cancer risk. Of
particular significance are potential international dif-
ferences in the perceived importance of the personal
nature of decision-making for genetic testing. Namely,
the extent to which actual counseling practice in each
country is consistent with upholding personal choice
remains elusive. Nonetheless, given the differences in
training backgrounds and professional identity of can-
cer genetic providers in different countries [68], and
the differing resources and costs inherent across health
systems, variations in the approach to counseling are
likely. Clearly, studies comparing service delivery in

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 111
Table 1
International comparison of genetic counseling and service delivery
Country What are the referral systems for
genetic counseling? What are the cost factors involved
in genetic counseling? What professional backgrounds do providers of ge-
netic counseling have?
Australia Patients are usually referred to
familial cancer clinics by their
family physician (general practi-
tioner) or other relevant medical
specialist
Provided free of charge at genetic
services based in state funded public
hospitals.
Provided by medically qualified doctors (with special-
ist training in clinical genetics and/or oncology) and
genetic counselors, who generally are trained, or in
the process of training, to the master’s level.
Canada Patients are usually referred to
by their family physician or
oncologist.
Funded by provincial governments. Provided by human geneticists with MD training
with post-graduate specialization or genetic coun-
selors with a Masters of Science Degree in Genetic
Counseling (MSc). A few clinics utilize specialized
nurse counselors (Masters degree preparation) who
have developed specialization in the area.
France Patients are usually referred by
their oncologist (affected women)
or gynecologist (unaffected wom-
en). However self-referral is also
available.
Provided free of charge (paid by the
National Health system) in public
hospitals or cancer centers.
Usually they are MDs with post-graduate training in
oncology and genetics. They can be specialists in
oncology or in genetics or come from other fields of
medicine (public health for example). The occupa-
tion of Genetic Counselor has been created in 2004
in France but very few genetic counselors have been
trained until now.
Germany Patients are referred by any type
of physician or can self-refer to
genetic counseling.
Public health insurances offer ge-
netic counseling free of charge for
women through familial breast can-
cer centers.
For the approx. 10% of individuals
withprivatehealth insurance, access
depends on insurance’s plan.
Provided by human geneticists (MDswith an addit ion-
al postgraduate training) or applied humangeneticists
(MSc) with additional training in human genetics. Ge-
netic counseling is offered only in conjunction with
gynecological counseling about surveillance methods
and prophylactic measures within the German Con-
sortium Hereditary Breast and Ovarian Cancer.
Netherlands Patients are usually referred to de-
partment of clinical genetics or
familial cancer clinics by their
family physician, oncologist, or
surgeon.
Costs are covered by (mandatory)
public health insurances. Genetic counseling is provided by clinical geneticists
(medical degree and specialist training) and genetic
consultants (nurses with additional in-service training
in oncogenetics)
UK Patients are referred by medi-
cal practitioners, usually a family
physician, surgeon or oncologist.
Genetic services in cancer are pro-
vided under the National Health
Service and are free of charge to
the patient at the point of service
delivery.
Providers are predominantly clinical geneticists with
MD and genetic (nurse) counselors. Genetic coun-
selors are either MSc trained or are experienced
nurses.
US Patients are referred by medical
practitioners, usually oncologists
or obstetricians/gynecologists and
they are self-referred.
Patients are charged for genetic
counseling services and for genet-
ic testing unless they are enrolled
in a study that may pay. Thus,
patients with health insurance most
commonly attend for services.
Cancer genetic counseling is provided by master’s lev-
el trained genetic counselors who often work within
an oncology team that may include radiologists, on-
cologists and surgeons. A small number of oncolo-
gy nurses are proficient in genetics and provide this
service as well.
cancergenetic counseling ofdifferent countries closein
economic development are needed to ascertain whether
international differences exist.
INTERNATIONAL DIFFERENCES IN THE
PROVISIONOF GENETIC TESTING
Availability and Process of Genetic Testing
Guidelines about referral criteria for genetic testing
vary for different countries [9,20,29,90,91,115,116].
International differences exist in the availability of ge-
netic testing, the cost factors involved, the turnaround
time for results and the impact of BRCA1/2 patents
outside the US. In most countries encompassed in this
review, genetic testing for cancer risk is only available
in conjunction with pre- and post-test genetic coun-
seling (Australia, Canada, France, Germany, Nether-
lands, UK). By contrast, in the US, although the route
most often pursued is through specially trained experts
in cancer genetics, genetic testing can be ordered by
any physician without providing any genetic counsel-
ing. However, individuals from any country may of
course bypass a clinician visit altogether by ordering a
genetic susceptibility test through the internet, but this

112 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
option is not commonly pursued. In Australia, Canada,
France, Germany,the Netherlands and the UK, testing
is offered only to families with a family history con-
sistent with a BRCA1/2 mutation [9,20,90,116], while
mutation detection in the US is available regardless of
family history. In most countries dealt with in this re-
view, genetic testing must start with the testing of DNA
from an affected relative in order to identify the family-
specific mutation (‘mutation detection’), then making
it possible to accurately distinguish between mutation
carriers and non-carriers currently unaffected by can-
cer (‘predictive testing’). In Germany, France and the
Netherlands predictive genetic testing is also available
to individuals from families where all affected fami-
ly members are deceased if a strong family history of
breast/ovarian cancer and/or a high probability of de-
tecting a BRCA1/2 mutation exists. In all countries
covered in this review, with the exception of France,
the protocol differs for families with Ashkenazi Jewish
ancestry with a significant family history, who may be
tested for Jewish founder mutations. In France, specif-
ic protocols for individuals mentioning explicitly their
Ashkenazi Jewish ancestry would be considered dis-
criminatory; instead only family history and geograph-
ical origin are taken into account when deciding about
which mutation tests to perform.
Time frames for genetic testing, particularly mu-
tation detection in a new family, vary considerably
between countries. In public laboratories, mutation
screening takes approximately 4–6 months in Germany,
up to 4 months in the UK, 4–7 months in Canada, 3–6
months in France, 3–8 months in the Netherlands and 3
months to 2 years in Australia. In the US, testing typi-
cally takes about 3 weeks. Testing for knownmutations
takes considerably less time, and is generally complet-
ed within 6 weeks, except the US and Germany, where
testing can be completed in about 2 weeks’ time.
Genetic testing is available free of charge in most
countries to those meeting eligibility criteria through
government-fundedtesting programs (Australia, Cana-
da, France, Germany, Netherlands, UK) and/or public
health insurers (Germany, applies to 90% of the Ger-
man population, the remainder may be covered by their
private health insurance). In the US, by contrast, ac-
cess to genetic testing depends on whether an individ-
ual has private health insurance, and if so, whether ge-
netic testing is covered by the particular health insur-
ance plan. Those not meeting eligibility criteria for free
access and/or those without health insurance coverage
can choose to have private testing and bear the costs
themselves.
In the US, Myriad Genetics and laboratories that
pay licensing fees to Myriad are the sole providers of
BRCA1/2 testing, through acquisition of patents and li-
censes covering BRCA1/2 genes [93]. Unlike all oth-
er countries dealt with in this review where testing is
only offered through specialized familial cancer clin-
ics, Myriad’s services are available to any physician in
the US [93]. With regard to the impact of BRCA1/2
patents outside the US, in Australia a biotechnology
company is licensed by Myriad to undertakeBRCA1/2
testing that would normally be done by Myriad in the
US. There has been no challenging of the continuation
of testing by public genetic laboratories in Australia.
Some Canadian provinces decided to ignore the patent
and others stopped offering the test at least temporari-
ly [22]. In Europe, BRCA1/2 patents are currently not
having an impact on theday-to-day provision ofgenetic
testing, because the patents have either been revoked or
severely amended. However, the patentees have filed
appeals against the decisions of the European Patent
Office. For a discussion of the complexities of patent-
ing of these genes in Europe, please see Matthijs [78].
Differences in Utilization Rates of Genetic Testing
The meta-analysis of utilization of genetictesting for
breast cancer susceptibility, based on 15 studies pub-
lished since 2002 that reported the proportions of par-
ticipants who underwent genetic testing, showed that
theaverage uptakeof testing across allstudies was 59%,
with uptake ranging from 20% to 96% [100]. Uptake
of testing was associated with clinical variables (prior
breast cancer diagnosis, having a family history), as
well as several methodological characteristics, includ-
ing sampling strategy and recruitment setting, which
had the strongest association with uptake. Specifically,
studies that used convenience sampling (as opposedto
reproducible sampling methods such as sampling of the
entire cohort or random sampling of a population) and
those recruiting participants through hospitals and/or
clinic setting (as opposed to community settings) re-
ported significantly higher uptake rates [100].
The systematic review by Ropka and colleagues did
not assess whether there were any international differ-
ences in uptake, possibly reflecting the small number of
studies undertaken in countries other than the US [100].
However, a comparative analysis of the published em-
pirical data available on utilization of BRCA1/2 testing
in the countries dealt with in this review indicates a
wide range of uptake rates. Uptake rates have been
reported for Australia (44%, population-based sam-

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 113
ple with identified BRCA1/2 mutations [55]), Canada
(58%, Ashkenazi Jewish women enrolled in cancer ge-
netics study [97]), France (84%, consecutive series of
women attending a familial cancer clinic [53]), Ger-
many(48% of unaffectedwomen) [130]andtheNether-
lands (48%, consecutive series of women attending a
familial cancer clinic, including relatives who did not
attend the clinic [79]). Uptake rates in the UK range
between 29% and 89% [18,19,33,127] and in the US
between 26% to 82% [5,10,15,59,60,64,103]. These
uptake rates usually reflect those attending genetic ser-
vices or participating in research who then choose to
proceed with genetic testing. It is possible that interna-
tional differences exist in the proportion of the at-risk
population who access genetic services, but this is dif-
ficult to determine. The variability in uptake rates most
likely reflects differences in methodologyof ascertain-
ment and the dynamics of implementation of genetic
testing in routine practice since the first published series
were more frequently based on samples involved in ge-
netic research. Such variability precludes any conclu-
sions regarding internationaldifferences in the rates of
utilization of BRCA1/2 testing, and international com-
parison studies using controlled designs to ascertain
whether such differences exist are needed.
Several factors exist that may contributeto potential
international differences in uptake of genetic testing,
including differences in cost and availability of genet-
ic testing and risk management options, the potential
for discrimination given variations in medicolegal sys-
tems, and cultural-specific differences in attitudes to
genetic testing. First, cost factors are likely to influ-
ence uptake of genetic testing. In most countries en-
compassed by this review (Australia, Canada, France,
Germany,Netherlands, United Kingdom), genetic test-
ing is government-funded or covered by public health
insurance, in contrast to the US, where coverage usu-
ally depends on access to health insurance and vary-
ing degrees of cost coverage by individual health plans.
Second, international differences in the potential for
discrimination as a result of genetic testing with re-
gard to health, life and other types of insurance and
employment are also likely to affect utilization of test-
ing. For example, studies undertaken in the US gen-
erally report high rates of concerns about health insur-
ance discrimination [5,64,95], compared to countries
where health insurance premiums are not risk-based
and/or universal health coverage is available (Australia,
Canada, France, Germany, Netherlands, United King-
dom) [2]. For example, in the United Kingdom a mora-
torium on the use of genetic testing results by insur-
ance companies exists and was recently voluntarily ex-
tended by the Government and Association of British
Insurers until 2011 [26]. Third, there is some evidence
of culture-specific differences in interest in, and uptake
of, genetic testing. For example, in two US studies,
African American women were less likely to opt for ge-
netic testing, compared to women in the majority cul-
ture, having controlled for the probabilityof carrying a
BRCA1/2 mutation, socioeconomic status or prima-
ry care physician discussions of BRCA1/2 testing [6,
7]. However, it is difficult to disentangle the differen-
tial roles of cost, potential discrimination and culture-
specific attitudes in influencing the uptake of genetic
testing, and their contribution to potential international
differences in the uptake of testing.
International Differences in Patient and Provider
Attitudes Towards Genetic Testing
A growing body of literature is available on cultural
differences in patient attitudes towards undergoing ge-
netic testing; in this article we have adopted the widely
cited definition of culture as the socially transmitted
body of values, beliefs, customs and behaviors as they
are shared by a given people [128]. Much of the litera-
ture available suggests that perceptions of the benefits
and limitations of genetic testing for breast cancer sus-
ceptibility vary according to cultural background [6,47,
94], and that such culture-specific differences may in-
fluence interest in, and uptake of, genetic testing [113].
For example, compared to women in the majority cul-
ture, both Latina and African American women ex-
pressed more concerns about abuses of genetic testing
in a U.S. study [113]. In another US study of African
American women, fatalistic beliefs about cancer were
higher amongst women opting to be tested, compared
to those who declined [46].
A comparison of attitudinal surveys of at-risk pa-
tients undertaken in each of the countries encompassed
by this review indicates remarkable similarities in the
perceived benefits and limitations of genetic testing for
breast cancer risk (Australia [82], Canada [21], Ger-
many [130], UK [32], US [48,61,64,65,75,76,111]).
The three most consistently endorsed perceived ben-
efits of genetic testing for breast cancer susceptibil-
ity have been reported as: (i) learning about one’s
own children’s risks, (ii) enabling an improved basis
for decision-making about screening ad/or prophylac-
tic measures and (iii) relieving uncertainty. The most
frequently endorsed limitations of genetic testing have
been reported as: (i) concerns about insurance, (ii) con-

114 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
cerns about the effects of testing on family and (iii) no
trust in results.
These remarkable similarities among countries in at-
titudes to genetic testing may,at least in part, reflect the
fact that all studies were carried out in Western coun-
tries, and that many assessed women attending familial
cancer clinics, the majority of whom typically come
from the majority culture [129]. Given that motivations
for genetic testing for cancer risk have been shown to
differ depending on cultural background [6], and em-
pirical data demonstrate that patient attitudes impact
on uptake of genetic testing (e.g. [64]), a stronger fo-
cus on non-Westerncultural groups appears warranted
to further explore the influence of traditional beliefs,
particular notions of kinship and differing roles of the
family in influencing decisions about genetic testing
for cancer risk [84].
Empirical evidence supports the impact of physician
attitudes and recommendations on patients’ screening
decisions, in general, and genetic testing decisions, in
particular [6]. Despite this, a dearth of literature is
available on attitudes toward genetic testing for can-
cer susceptibility amongst cancer genetics practitioners
and other health professionals [34,77,115]. Much less
still is known about international differences, if any,
in attitudes of cancer genetic counseling providersand
other health professionals.
INTERNATIONAL DIFFERENCES IN UPTAKE
OF PROPYLACTIC SURGERY
Factors Determining the Uptake of Prophylactic
Surgery
The uptake of breast cancer risk reduction strategies,
including prophylactic oophorectomy and mastectomy,
is likely determined by a complex set of factors. These
include clinical characteristics and psychological vari-
ables. Forexample, womenwith a higher perceivedrisk
of ovarian cancer are more likely to undergo prophy-
lactic oophorectomy [106]. Women with children are
more likely to opt for prophylactic mastectomy, com-
pared with those without children [79], and psychologi-
cal correlates of intention to undergo prophylactic mas-
tectomy include perceived risk and breast cancer anxi-
ety [83,109]. Such sociodemographic and psychologi-
cal correlates have been demonstrated in cohorts from
different countries with varying cultural backgrounds,
suggesting that they exert their influence regardless of,
or in interaction with, the cultural setting. By contrast,
other factors that may be specific to particular countries
include the availability and content of national guide-
lines regarding the managementof women at high risk
for breast cancer, if any, and the prevailing attitudes
towards body integrity and femininity [125], both of
which are likely to be strongly influenced by cultural
factors. Finally cost factors are also likely to influence
decision-making about prophylactic surgery.
Differences in Uptake Rates of Prophylactic Surgery
A recent review of uptake of prophylactic mastecto-
my and oophorectomy amongst unaffected carriers of
BRCA1/2 mutations shows that uptake of prophylac-
tic mastectomy ranges widely from 0% to 54%, and
that of prophylactic oophorectomy between 13% and
53% [125], with Dutch studies reporting the highest up-
take rates. Apart from actual international differences,
documented rates of uptake depend on the nature of the
cohort studied, reflecting ascertainment bias. Specif-
ically, uptake rates are likely to be higher in samples
of women who attended familial cancer clinics, poten-
tially reflecting self-selection of those with high levels
of concern about developing breast cancer and high-
er objective breast cancer risk, compared to samples
of women recruited through population-based studies,
many of whom have never attended a familial can-
cer clinic. Regardless of these methodological issues,
both empirically derived and anecdotal evidence sug-
gest international differences in the uptake of prophy-
lactic mastectomy and oophorectomy amongst women
from hereditary breast/ovarian cancer families. Uptake
of prophylactic mastectomy is relatively low in some
countries (Australia −2% to 4% of at-risk women [4,
107] and 11% of carriers [96]; Germany −7% of at risk
women [124]; and the US −0% to 15% [15,62,101] of
carriers) and higher in others (Netherlands −51% [79]
and 54% [70] of carriers), with Canada assuming an in-
termediate position (Canada – 29% of carriers [86]). In
the UK, the percentage of women from different centers
undergoing prophylactic mastectomy has been report-
ed as ranging from 7% to 42% for different sites [126].
No published data on uptake of prophylactic mastecto-
my or oophorectomy are currently available for France.
Differences between countries in uptake of prophylac-
tic oophorectomy have also been reported: Australia
−23% to 29% [4,96,114]; Germany −8% of at risk
women [124]; Netherlands −64% [79] and 50% [70]
of carriers; UK −25% [40]; Canada −54 % of carri-
ers [86]; and the US −13% to 51% of carriers [15,62,
101,106]. However, given that shifts over time in the

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 115
rate of diffusion of genetic testing and subsequent up-
take of prophylactic interventions are likely, research
on uptake of prophylactic surgery needs to be under-
taken on a longitudinal basis.
Differences in National Guidelines Regarding
Prophylactic Surgery
Scientific debate on the utilization of prophylactic
surgery in women at risk for breast and ovarian can-
cer was controversial a decade ago [58]. Howev-
er, since then, the results from several clinical trials
proving the efficacy of both prophylactic mastectomy
and oophorectomy have become available [41,42,54,
80,98], and consequentlyprophylactic surgeryis gener-
ally recommended as a risk reduction option forwomen
with a strong family history or BRCA1/2 mutation car-
riers. National guidelines regarding the management
of high-risk women, including recommendations for
discussing prophylactic surgery, have been published
in several countries [9,20,28,29,90,91,116], and there
is evidence that recommendations differ, perhaps re-
flecting cultural differences [30]. For example, the US
guidelines acknowledge the lack of efficacy of several
risk management strategies and do not make a recom-
mendationfor oragainst prophylactic surgery[91]. The
original French guidelines published in 1998, by con-
trast, specifically recommended that physicians ‘op-
pose’ prophylactic mastectomy [28]. However, the up-
dated French guidelines recommend that prophylactic
surgery be offeredon the basis of its demonstrated effi-
cacy [29]. Referring to the original French guidelines,
Eisinger et al. argue that the cultural differences be-
tween France and the US can be attributed to the strong
movement in the US towards a shared decision-making
model, with its strong emphasis on patient autonomy
and control, and hence patients may feel free to either
accept or decline surgical intervention [23,30]. By con-
trast, they suggest that the prevailing model in France
and other parts of Europe is still more strongly based on
a model of medical paternalism, with its concomitant
emphasis on physician recommendation [30]. Never-
theless, in the US, physician recommendation may still
be a significant predictor in patient decision making,
for example in newly diagnosed breast cancer patients
who are making decisions about surgery [104].
Differences in Provider Attitudes Towards
Prophylactic Surgery
Clearly, national guidelines regarding the manage-
ment of high-risk women have the potential to influ-
ence provider attitudes to prophylactic surgery and oth-
er risk-reducing strategies. Strong evidence of differ-
ing practices comes from a survey of cancer genetics
practitioners at familial cancer clinics in three countries
(Canada, France, UK), which showed that prophylac-
tic surgery was discussed in Marseilles less frequent-
ly, comparedto Montreal, with practitioners in Manch-
ester falling in between [16]. There are also data to
indicate international differences in physician attitudes
towards prophylactic surgery. For example, in a French
studypublished in 2000 ofphysicians involvedinbreast
cancer management, only 11% believed prophylactic
mastectomy to be an acceptable procedure in female
carriers of BRCA1/2 mutations younger than 35 years,
and the rate of respondents believing that oophorec-
tomy was acceptable from the age of 35 years, was
23% [50]. These data indicate low acceptability of pro-
phylactic surgery amongst French physicians, which
is consistent with the cautious nature of the original
French management guidelines [28] and is likely to re-
flectcultural differences inattitudes towards prophylac-
tic surgery. However,future shifts in attitudes amongst
French physicians are likely, given the accumulating
evidence for the efficacy of prophylactic surgery and
the publication of the updated French guidelines [29],
even if French physicians continue to be reluctant in
recommending surgery.
Differences in Patient Attitudes Towards Risk
Reduction Strategies
Similar data are available on international differ-
ences in patient attitudes towards prophylactic surgery,
which suggests that patient attitudes are, at least in part,
culturally determined. In a rigorous international sur-
vey of women’s attitudes toward preventative strategies
for hereditary breast/ovarian cancer undertaken at three
familial cancer clinics in Canada, France, and the UK,
Julian-Reynier [51] demonstrated significant variations
in attitudes to prophylactic surgery and chemopreven-
tion. Specifically, the study showed that Canadian and
British respondents were three to four times more like-
ly to be in favor of prophylactic mastectomy, compared
to French participants [51]. Furthermore, British par-
ticipants were more likely to consider both prophylac-
tic oophorectomy and chemoprevention, compared to
Canadian and French women [51]. These demonstrat-
ed variations may reflect culture-specific differences in
both the importance women attach to breasts and fertil-
ity and in the acceptability of these procedures amongst
physicians.

116 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
CLINICAL FACTOR
S
MICRO-LEVEL
MACRO-LEVEL FACTORS
FACTORS CULTURAL FACTORS
HEALTH SYSTEM-RELATED FACTORS
INDIVIDUAL
FACTORS
FAMILY CONTEXT
FACTORS
PSYCHOLOGICAL IMPACT
OF GENETIC TESTING
TYPE OF TESTING
DISEASE STATUS
OBJECTIVE RISK
Fig. 1. Factors impacting on psychological adjustment to genetic testing for breast cancer risk.
Differences in Cost
Costfactors arguably alsoinfluence decision-making
about prophylactic surgery; uptake may be higher in
countries were costs for prophylactic surgery are cov-
ered by either universal health insurance (Australia,
Canada, France, UK) or public health insurers (in Ger-
many this applies to 90% of the population, Nether-
lands), although in some cases waiting lists for these
procedures may be long. By comparison, in countries
where these procedures may be privately paid for or are
covered by private health insurance plans (US, and 10%
of the German population who are privately insured),
uptake may be lower.
DIFFERENCES IN THE PSYCHOLOGICAL
IMPACT OF TESTING
Role of Clinical, Individual and Family Context
Factors
The psychological impact of genetic testing for
breast cancer risk is influenced by a complex set of
factors, summarized in Fig. 1 and Table 2, which in-
clude clinical factors; factors operative at the micro-
level, that is individual psychological and family con-
text factors; and finally those factors that exert their in-
fluence at the macro-level, includingcultural and health
systems-related factors, which may be specific to a par-
ticular nation to varying degrees. A substantial body
of literature has become available on the role of clini-
cal and individual psychological factors in determining
psychological adjustment to genetic testing for breast
cancer risk (see below and article by S.T. Vadaparampil
et al. in this issue); however, much less is current-
ly known about the role of family context factors as
well as cultural and system-related factors. In addi-
tion, micro- and macro-level factors may interact; for
example, studies available on the impact of family con-
text on psychological adjustment have been undertaken
in Anglo-Saxon countries, and it is unknown whether
findings from these studies can be generalized to other
cultural groups, given the culture-dependent role of the
family [43].
Several clinical variables have been shown to have
an impact on the psychological adjustment to genetic
testing for breast cancer risk. Findings with regard to
the role of a prior breast cancer diagnosis are some-
what inconsistent [64,99,105,123]. Prospective studies
undertaken in Norway [99] and the US [64,105] that
assessed psychological distress level amongst women
affected by breast cancer found no changes in distress
levels as a result of genetic testing, while one Dutch
study reported strong declines in well-being after re-
ceipt of genetic testing results [123]. However, consis-
tent evidence suggests that recency of diagnosis is asso-
ciated with more negative psychological outcomes [14,
52,123]. The type of testing result is also known to af-
fect psychological adjustment to testing; the few stud-
ies available that compared the impact of receiving in-
conclusive results to that of receiving true-negative re-
sults, show that women with inconclusive results felt
less reassured, particularly those with a higher objec-
tive breast cancer risk based on family history [67,105,
119].
Several empirically derived individual and family
context factors have been shown to have an impact

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 117
Table 2
Factors that impact on psychological distress following genetic testing for breast cancer risk
CLINICAL FACTORS
– Disease status, including recency of diagnosis
– Type of testing result (definitive versus inconclusive)
– Objective risk
INDIVIDUAL FACTORS
– High levels of distress prior to testing
– Past history of major or minor depression
– Carriers who did not expect to be carriers
– Individuals who seek out threatening information most likely to be distressed while anticipating results
FAMILY CONTEXT FACTORS
– Those tested first & those whose results differ from those of siblings most vulnerable
– Having lost a relative to hereditary cancer/unresolved grief
– Women with small children most likely to be distressed
– Open communication in the family
– Quality of intimate relationship
– Parental cancer in childhood
CULTURAL FACTORS
– Knowledge about breast cancer genetics
– Perceived risk of developing cancer
– Role of the family
– Beliefs about cancer causation and inheritance
– Media influences
– Religious/spiritual beliefs
HEALTH SYSTEM-RELATED FACTORS
– Eligibility criteria for genetic testing
– Delays in the provision of testing results
– Provision of pre- and post-test counseling
on psychological adjustment to BRCA1/2 testing [81].
Specifically, the available evidence shows fairly con-
sistently that higher psychological distress following
testing is associated with high levels of distress prior to
testing (studies undertaken in the Netherlands, Norway
and the US) [25,63,69,99,122], a past history of major
or minor depression (Japan) [89], and that carriers who
did not expect to be carriers (US) [105] and individ-
uals who seek out threatening information (US) [112]
are most likely to be distressed as a result of, or while
anticipating, genetic testing. Additional family context
factors have been demonstrated as increasing the risk
of distress following testing: those tested first (US) [67,
108] and those whose results differ from those of sib-
lings (Netherlands, US) [71,108] are most vulnerable,
as are those who have lost a relative to hereditarycan-
cer and those with small children (Netherlands) [122].
There is a dearth of literature regarding the role of fam-
ily dynamics on psychological adjustment to hered-
itary cancer; however a recent Dutch study showed
that individuals who were in childhood (under age 13)
at the time of parental cancer had the highest levels
of cancer-related distress (Netherlands) [121]. High-
er cancer-related distress was also associated with in-
hibited communication about hereditary cancer with
relatives, disengaged-rigid or enmeshed-chaoticfamily
functioning, less adequate support from partners, and
a less differentiated relationship to the mother(Nether-
lands) [120].
Role of Cultural and Health Systems Related Factors
There is a dearth of literature on the role of cul-
tural factors that may influence psychological adjust-
ment to genetic testing for breast cancer risk. To our
knowledge, no studies have used control-groupdesigns
that allow comparisons in adjustment between different
cultural groups. Several prospective studies, however,
have explored the impact of genetic testing for breast
cancer risk amongst specific cultural groups, includ-
ing individuals of Jewish Ashkenazi background living
in Australia [3] and the US [35]; and African Ameri-
cans [56]. To our knowledge, no prospective studies
have been undertaken on the impact of testing in eth-
nocultural groups other than African Americans and
the Ashkenazim; therefore, exploring the psychologi-
cal impact of genetic testing in other ethnic groups is
clearly an important topic for future studies.
Health-related system factors are also likely to im-
pact on psychological functioning, although research
on their role in this context is exceedingly rare. In coun-
tries where unaffected women are only offered testing
once a family-specific mutation has been identified, un-
affected women in whose relatives no family-specific

118 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
Table 3
International comparison of prospective studies on psychological impact of genetic testing for breast cancer risk
STUDY & COUNTRY CARRIERS NON-CARRIERS INCONCLUSIVE AFFECTED KEY FINDINGS
NN N
aPEOPLE INCL
AUSTRALIA
Andrews et al., 2004 [3] 7 36 10 Women of Ashkenazi Jewish background only. Compared to baseline, unaffected
women (both carriers and non-carriers combined) showed significant ↓decreases in
breast cancer anxiety.
Meiser et al., 2002 [85] 30 60 Compared tobaseline, carriers ↑in breast cancer anxiety and non-carriers ↓in anxiety
& depression.
The Netherlands
Lodder et al., 2001 [69]
Lodder et al., 2002 [70]
Van Oostrom et al., 2004 [122]
25 53 1-3 wks: Compared to baseline, carriers no changes and non-carriers ↓in psycholog-
ical distress. 5 yrs: Carriers & non-carriers ↑in generalized anxiety & depression
from 1 to 5 yrs.
Van Dijk et al., 2006 [118] 42 43 153 105 Compared to baseline, women with uninformative results had ↓breast cancer worry
and distress after disclosure, but to a lesser extent than non-carriers
Van Roosmalen et al.,
2004 [123] 89 N/A 23 Compared to baseline, carriers ↓in wellbeing (more pronounced amongst affected
women) & ↓in decision uncertainty (regardless of disease status)
van Oostrom et al, 2006 [121] 61 100 16 Distress and worry increased slightly in carriers after test disclosure and decreased
after 6 months. Non-carriers remained at same level shortly after disclosure but scores
decreased after 6 months.
United Kingdom
Bish et al., 2002 [12] 61 Compared to baseline, there were no changes in levels of psychological distress and
breast cancer worry.
Watson et al., 2004b[126] 91 170 Comparedto baseline, femalecarriers ↑in cancer worry& rates of psychiatric disord er
and female non-carriers ↓in cancer worry & rates of psychiatric disorder.
UNITED STATES 25
Croyle et al., 1997 [25] 46 35 Compared to baseline levels, carriers no changes in anxiety and non-carriers ↓in
anxiety.
Friedman, et al. 1999a[35] 64 36 Includes women of Ashkenazi Jewish background only. Compared to baseline, anxi-
ety decreased but returned to baseline levels at 6 months.
Kinney et al., 2005 [56] 19 66 5 IncludesAfrican AmericanBRCA1-linked kindred. Compared tobaseline, no changes
in distress for carriers and ↓for non-carriers.
Lerman et al. 1996b[64] 78 50 38 Carriers no changes in depression relative to baseline. Non-carriers ↓in depression
compared to carriers and decliners.
Loader et al., 2004 [67] 36 19 51 87 Compared to noncarriers and those with inconclusive results combined, carriers had
↑breast cancer worry.
Schwartz et al., 2002 [105] 78 58 143 186 No effect of testing result among affected probands. Relative to baseline, unaffected
carriers no changes in psychological outcomes, and unaffected non-carriers ↓in breast
cancer anxiety & general distress.
Tercyak et al., 2001 [112] 70 37 38 Immediately after disclosure, carriers (unaffected and affected combined) ↑distress
compared to noncarrieres.
aNumber of participants included who underwent mutation search and where no family-specific mutation was identified.
bIncludes men and women.

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 119
mutation can be detected may experience high level
of distress, particularly if the primary motive for ge-
netic testing is to provide a basis for decision-making
about screening and prophylactic surgery [18]. Fur-
thermore, in some countries considerable delays tend
to occur until a mutation detection has been complet-
ed; such delays may lead to high levels of frustration
and psychological distress as waiting for the result con-
tinues, particularly amongst women with a monitoring
information-seeking style [112]. Finally, it is possi-
ble that the provision of pre- and post-testing coun-
seling affects psychological adjustment. However, to
our knowledge, almost no research is available on the
impact of the content, timing and number of pre- and
post-counseling sessions on patient outcomes, and this
issue clearly requires more attention.
Comparisons of the Psychological Impact of Testing
between Countries
Table 3 provides a summary of findings from
prospective studies that have assessed the psycholog-
ical impact of genetic testing for BRCA1/2 mutations
and used validated measures of psychologicaloutcome,
according to the country where the studies were un-
dertaken. Several studies were not included, because
they did not provide separate data on the impact of
testing for different hereditary cancer syndromes [8,14,
27], adopted retrospective [31,36,57,73] and/or quali-
tative designs [37,38,66,74,76], or were undertaken in
a country not specifically covered by this review [24,
99]. Inspection of key findings reveals some hetero-
geneity of findings within particular countries, while
no systematic differences between countries are appar-
ent. For example, studies of unaffected women under-
taken in the Netherlands show no changes in psycho-
logical outcomes for carriers and decreases for non-
carriers [69,70,122]; while another study that includ-
ed affected women demonstrates decreases in wellbe-
ing [123]. Such heterogeneity of findings within coun-
tries is perhaps not surprising, given the complex set of
clinical, individual and family context factors known,
or likely to contribute, to psychological adjustment, in
addition to the cultural and health system-related fac-
tors that impact on adjustment within particular coun-
tries. All of the available studies were confined to a
particular country, in contrast to previous studies as-
sessing cultural differences to attitudes to prophylactic
surgery,which allowed direct comparisons in attitudes
across countries, having adjusted for important clinical
variables [51]. Similar research designs would be re-
quired for a rigorous cross-national assessment of the
impact of genetic testing to disentangle the role of clin-
ical, individual and family context factors, on the one
hand, and the cultural and health system-related factors
unique to particular countries, on the other.
CONCLUSIONS
The comparative analyses presented in this review of
utilization rates and the psychological impact of testing
indicate a wide range of variability in uptake rates and
psychological outcomes, most likely reflecting sample
variability and methodological differences in measure-
ment. While it is possible that international differences
exist, this is difficult to determine, given differences
in methodologies and sample characteristics. Clearly,
international comparison studies using controlled de-
signs would be required to ascertain whether interna-
tional differences exist, and to disentangle the differ-
ential role of clinical, individual and family context
factors, on the one hand, and the cultural and health
system-related factors unique to particular countries,
on the other. Given the likely shifts in uptake of ge-
netic testing and prophylactic surgery over time, such
research needs to be undertaken ona longitudinal basis.
Prospective studies on the psychological impact of
genetic susceptibility testing for breast cancer risk have
been undertaken largely amongst women attendingfa-
milial cancer clinics where pre- and post-test genetic
counseling was provided. The impact of testing in set-
tings where less intensive counseling protocols and el-
igibility criteria are used and, in particular, that of ge-
netic testing without provision of any genetic counsel-
ing, is currently unknown. Previous studies examining
the psychological impact of genetic testing have been
undertaken in Western countries and most women at-
tending these clinics are from the majority culture, with
women from linguistically and culturally diverse back-
grounds typically being underrepresented. A stronger
focus on non-Western cultural groups appears warrant-
ed to further explore the influence of traditional beliefs,
particular notions of kinship and differing roles of the
family in influencing decisions and the psychological
impact of genetic testing for breast cancer risk.
ACKNOWLEDGEMENTS
Bettina Meiser is supported by a Career Develop-
ment Award from The National Health and Medical

120 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
Research Council of Australia (ID 350989). Contri-
butions to this manuscript by Barbara Biesecker were
supported by the Intramural Research Program of the
National Human Genome Research Institute, National
Institutes of Health.
REFERENCES
[1] R. Acton, N. Burst, L. Casebeer, S. Ferguson, P. Greene, B.
Laird and L. Leviton, Knowledge, Attitudes and behaviors of
Alabama’s primary care providers regarding cancer genetics,
Acad Med 75 (2000), 850–852.
[2] K. Aktan-Collan, A. Haukkala and H. Kaariainen, Life and
health insurance behaviour of individuals having undergone
a predictive genetic testing programme for hereditary non-
polyposis colorectal cancer, Community Genetics 4(2001),
219–224.
[3] L. Andrews, B. Meiser, C. Apicella and K. Tucker, Psy-
chological impact of genetic testing for breast cancer sus-
ceptibility in women of Ashkenazi Jewish background: A
prospective study, Genet Test 8(2004), 240–247.
[4] Y. Antill, J. Reynolds, M. Young, K. Tucker, T. Bogtstra,
S. Wong, T. Dudding, J. Di JUlio and K. Phillips, Risk-
reduing surgery in women with familial susceptibility for
breast and/or ovarian cancer, Eur J Cancer 42 (2006), 621–
628.
[5] K. Armstrong, K. Calzone, J. Stopfer, G. Fitzgerald, J. Coyne
and B. Weeber, Factors assciated with decisions about clin-
ical BRCA1/2 testing, Cancer Epidemiol Biomarkers Prev 9
(2000), 1251–1254.
[6] K. Armstrong, E. Micco, A. Carney, J. Stopfer, M. Putt, K.
Armstrong, E. Micco, A. Carney, J. Stopfer and M. Putt,
Racialdifferences in the use of BRCA1/2 testing amongwom-
en with a family history of breast or ovarian cancer, see
comment, JAMA 293 (2005), 1729–1736.
[7] K. Armstrong, B. Weber, J. Stopfer, K. Calzone, M. Putt, J.
Coyne and S. Schwart, Early use of clinical BRCA1/2 test-
ing: Associations with race and breast cancer risk, American
Journal of Medical Genetics 117A (2003), 154–160.
[8] B. Arver, A. Haegermark, U. Platten, A. Lindblom and
Y. Brandberg, Evaluation of psychosocial effects of pre-
symptomatic testing for breast/ovarian and colon cancer pre-
disposing genes: a 12 month follow-up, Familial Cancer 3
(2004), 109–116.
[9] Australian Cancer Network, Guidelines on familial aspects
of cancer, Sydney: Australian Cancer Network, November
1999.
[10] B. Biesecker, N. Ishibe, D. Hadley, T. Giambarresi, R. Kase,
C. Lerman and J. Struewing, Psychosocial factors predicting
BRCA1/2 testing decisions in members of hereditary breast
and ovarian cancer families, American Journal of Medical
Genetics 93 (2000), 257–263.
[11] B. Biesecker and T.M. Marteau, The future of genetic coun-
selling: An international perspective, Nat Genet 22 (1999),
133–137.
[12] A. Bish, S. Sutton, C. Jacobs, S. Levene, A. Ramirez and S.
Hodgson, No news is (not necessarily) good news: impact
of preliminary results for BRCA1 mutation searches, Genet
Med 4(2002), 353–358.
[13] E.M.A. Bleiker, N.K. Aaronson and F.H. Menko, Genetic
counseling for hereditary cancer: A pilot study on experi-
ences of patients and family members, Patient Educ Couns
32 (1997), 107–116.
[14] V. Bonadona, P. Saltel, F. Desseigne, H. Mignotte, J.C.
Saurin, Q. Wang, O. Sinilnikova, S. Giraud, G. Freyer, H.
Plauchu, A. Puisieux, C. Lasset, V. Bonadona, P. Saltel, F.
Desseigne, H. Mignotte, J.-C. Saurin, Q. Wang, O. Sinil-
nikova, S. Giraud,G. Freyer, H. Plauchu, A.Puisieux and C.
Lasset, Cancer patients who experienced diagnostic genetic
testing for cancer susceptibility: reactions and behavior after
the disclosure of a positive test result, Cancer Epidemiology,
Biomarkers & Prevention 11 (2002), 97–104.
[15] J. Botkin, K. Smith, R. Croyle, B. Baty, J. Wylie, D. Dutson,
A. Chan, H. Hamann, C. Lerman, J. McDonald, V. Venne,
J. Ward and E. Lyon, Genetic testing for a BRCA1 mutation:
Prophylactic surgery and screening behavior in women 2
years post testing, American Journal of Medical Genetics
118A (2003), 201–209.
[16] L. Bouchard, I. Blancquaert, F. Eisinger, W.D. Foulkes, G.
Evans, H. Sobol and C. Julian-Reynier, Prevention and genet-
ic testing for breast cancer: variations in medical decisions,
Soc Sci Med 58 (2004), 1085–1096.
[17] K. Brain, J. Gray, P. Norman, E. Parsons, A. Clarke, C.
Rogers, R. Mansel, P. Harper, K. Brain, J. Gray, P. Norman,
E. Parsons, A. Clarke, C. Rogers, R. Mansel and P. Harper,
Why do women attend familial breast cancer clinics? see
comment, J Med Genet 37 (2000), 197–202.
[18] M. Broadstock, S. Michie, J. Gray, J. MacKay and T.M.
Marteau, The psychological consequences of offering mu-
tation searching in the family for those at risk of hereditary
breast and ovarian cancer – A pilot study, Psychooncology 9
(2000), 537–548.
[19] L. Brooks, F. Lennard, A. Shenton, F. Lalloo, I. Ambus, A.
Ardern-Jones, R. Belk, B. Kerr, D. Craufurd, R. Eeles and
G. Evans, BRCA1/2 predictive testing: a study of uptake in
two centres, Eur J Hum Genet 12 (2004), 654–662.
[20] Bundes¨
artzekammer, Richtlinien zur Diagnose der genetis-
chenDisposition f¨
ur Krebserkrankungen (German guidelines
for the diagnosis of genetic disposition for cancer) Deutsches
¨
Artzteblatt 95 (1998).
[21] M. Cappelli, L. Surh, L. Humphreys, S. Verma, D. Logan, A.
Hunter, J. Allanson, M. Cappelli, L. Surh, L. Humphreys, S.
Verma, D. Logan, A. Hunter and J. Allanson, Psychological
and social determinants of women’s decisions to undergo
genetic counseling and testing for breast cancer, Clin Genet
55 (1999), 419–430.
[22] T. Caulfield, Policy conflicts: Gene patents and health care
in Canada, Community Genetics 8(2005), 223–227.
[23] C. Charles, A. Gafini and T.Whelan, Shared decision-making
in the medical encounter: What does it matter? Soc Sci Med
44 (1997), 681–692.
[24] E. Claes, G. Evers-Kiebooms, L. Denayer, M. Decruyenaere,
A. Boogaerts, K. Philippe and E. Legius, Predictive genet-
ic testing for hereditary breast and ovarian cancer: psycho-
logical distress and illness representations 1 year following
disclosure, J Genet Couns 14 (2005), 349–363.
[25] R.T. Croyle, K.R. Smith, J.R. Botkin, B. Baty and J. Nash,
Psychological responses to BRCA1 mutation testing: Prelim-
inary findings, Health Psychol 16 (1997), 63–72.
[26] Department of Health, The genetics of common diseases: A
second report to the NHS Central Research and Development
Committee on the new genetics, Leeds: 1995,
[27] M. Dorval, A.F. Patenaude, K.A. Schneider, S.A. Kieffer,
L. DiGianni, K.J. Kalkbrenner, J.I. Bromberg, L.A. Basili,
K. Calzone, J. Stopfer, B.L. Weber, J.E. Garber, M. Dorval,

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 121
A.F. Patenaude, K.A. Schneider, S.A. Kieffer, L. DiGianni,
K.J. Kalkbrenner, J.I. Bromberg, L.A. Basili, K. Calzone,
J. Stopfer, B.L. Weber and J.E. Garber, Anticipated versus
actual emotional reactions to disclosure of results of genetic
tests for cancer susceptibility: findings from p53 and BRCA1
testing programs, J Clin Oncol 18 (2000), 2135–2142.
[28] F. Eisinger, N. Alby, A. Bremond, J. Dauplat, M. Espie, P.
Janiaud, F. Kuttenn, J.P. Lebrun, J.B. Lefranc, J. Pierret, H.
Sobol, D. Stoppa-Lyonnet, D. Thouvenin, H. Tristant and
J. Feingold, Recommendations for medical management of
hereditary breast and ovarian cancer: The French National
Ad Hoc Committee, Ann Oncol 9(1998), 939–950.
[29] F. Eisinger, B. Bressac, D. Castaigne, P.H. Cottu, J. Lansac,
J.P. Lefranc, A. Lesur, C. Nogues, J. Pierret, S. Puy-Pernias,
H. Sobol, A. Tardivon, H. Tristant, R. Villet, F. Eisinger, B.
Bressac, D. Castaigne, P.-H. Cottu, J. Lansac, J.-P. Lefranc,
A. Lesur, C. Nogues, J. Pierret, S. Puy-Pernias, H. Sobol, A.
Tardivon, H. Tristant and R. Villet, Identification and man-
agement of hereditary predisposition to cancer of the breast
and the ovary (update 2004), see comment, Bull Cancer
(Paris)91 (2004), 219–237.
[30] F. Eisinger, G.B. Geller, W and N. Holtzman, Cultural basis
for differences between US and French clinical recommen-
dations for women at increased risk for breast and ovarian
cancer, Lancet 353 (1999), 919–920.
[31] M. Esplen, L. Madlensky, K. Butler, W. McKinnon, B. Bapat,
J. Wong, M. Aronson and S. Gallinger, Motivations and psy-
chosocial impact of genetic testing for HNPCC, American
Journal of Medical Genetics 103 (2001), 9–15.
[32] C. Foster, D. Evans, R. Eeles, D. Eccles, S.Ashley, L. Brooke,
R. Davidson, J. Mackay, P. Morrison and M. Watson, Pre-
dictive testing for BRCA1/2: Attributes, risk perception and
management in a multi-centre clinical cohort, Br J Cancer
86 (2002), 1209–1216.
[33] C. Foster, D.G. Evans, R. Eeles, D. Eccles, S. Ashley, L.
Brooks, T.Cole, J. Cook, R. Davidson, H. Gregory, J. Mack-
ay, P.J. Morrison and M. Watson, Non-uptake of predictive
genetic testing for BRCA1/2 among relatives of known car-
riers: attributes, cancer worry, and barriers to testing in a
multicenter clinical cohort, Genet Test 8(2004), 23–29.
[34] A.N. Freedman, L. Wideroff, L. Olson, W, Davis, C.
Klabunde, K.P. Srinath, B.B. Reeve, R.T. Croyle and R.
Ballard-Barbash, US physicians’ attitudes toward genetic
testing for cacer susceptibility, American Journal of Medical
Genetics 120A (2003), 63–71.
[35] L. Friedman, J. Webb, S. Richards, G. Lynch, A. Kaplan, F.
Brunicardi and S. Plon, Psychological impact of receiving
negative BRCA1 mutation test results in Ashkenazim, Genet
Med 1(1999), 74–79.
[36] A. Geirdal, J.G. Reichelt, A.A. Dahl, K. Heimdl, L. Maehle,
A. Stormorken and P. Moller, Psychological distress in wom-
en at risk of hereditary breast/ovarian or HSPCC cancers in
the absence of demonstrated mutations, Familial Cancer 4
(2005), 121–126.
[37] N. Hallowell, C. Foster, A. Ardern-Jones, R. Eeles, V. Mur-
day and M. Watson, Genetic testing for women previously
diagnosed with breast/ovarian cancer: Examining the im-
pact of BRCA1 and BRCA2 mutation searching, Genet Test 6
(2002), 79–87.
[38] N. Hallowell, C. Foster, R. Eeles, A. Arden-Jones and M.
Watson, Accommodating risk: Responses to BRCA1/2 ge-
netic testing of women who have had cancer, Soc Sci Med 59
(2004), 553–565.
[39] N. Hallowell, F. Murton, H. Statham, J.M. Green and M.P.M.
Richards, Women’s need for information before attending
genetic counselling for familial breast or ovarian cancer: A
questionnaire, interview and observational study, Br Med J
314 (1997), 281–283.
[40] M. Hannemann, R. Fox and M. James, Ovarian cancer death
reduction for women at high risk: workload implications for
gynaecology services, Journal of Obstetrics & Gynaecology
26 (2006), 42–44.
[41] L. Hartmann, T.Sellers, D. Schaid, T. Frank, C.Soderberg, D.
Sitta, M. Frost, C. Grant, J. Donohue and J. Woods, Efficacy
of bilateral prophylactic mastectomy in BRCA1 and BRCA2
gene mutation carriers, J Natl Cancer Inst 93 (2001), 1633–
1637.
[42] L.C. Hartmann, D.J. Schaid, J.E. Woods, T.P. Crotty, J.L.
Myers, P.G. Arnold, P.M. Petty, T.A. Sellers, J.L. Johnson,
S.K. McDonnel, M.H. Frost and R.B. Jenkins, Efficacy of
bilateral prophylactic mastectomy in women with a family
history of breast cancer, N Engl J Med 340 (1999), 77–84.
[43] S. Ho, J. Ho, C. Chan, K. Kwan and Y. Tsui, Decision-
al consideration of hereditary colon cancer genetic test re-
sults among Hong Kong Chinese adults, Cancer Epidemiol
Biomarkers Prev 12 (2003), 426–432.
[44] S. Hodgson, B. Milner, I. Brown, G. Bevilacqua, J. Chang-
Claude, D. Eccles, G. Evans, H. Gregory, P. Moller, P. Mor-
rison, M. Steel, D. Stoppa-Lyonett, H. Vasen and N. Haites,
Cancer genetics services in Europe, Dis Markers 15 (1999),
3–13.
[45] P. Hopwood, C.J. van Asperen, G. Borreani, P. Bourret,
M. Decruyenaere, S. Dishon, F. Eisinger, D.G. Evans, G.
Evers-Kiebooms, L. Gangeri, L. Hagoel, E. Legius, I. Nip-
pert, G. Rennert, B. Schlegelberger, C. Sevilla, H. Sobol, A.
Tibben, M. Welkenhuysen, C. Julian-Reynier, P. Hopwood,
C.J. van Asperen, G. Borreani, P. Bourret, M. Decruyenaere,
S. Dishon, F. Eisinger, D.G.R. Evans, G. Evers-Kiebooms,
L. Gangeri, L. Hagoel, E. Legius, I. Nippert, G. Rennert, B.
Schlegelberger, C. Sevilla, H. Sobol, A. Tibben, M. Welken-
huysen and C. Julian-Reynier, Cancer genetics service pro-
vision: a comparison of seven European centres, Community
Genetics 6(2003), 192–205.
[46] C. Hughes, G.A. Fasaye, V.H. LaSalle and C. Finch, So-
ciocultural influences on participation in genetic risk assess-
ment and testing among African American women, Patient
Education & Counseling 51 (2003), 107–114.
[47] C. Hughes, A. Gomez-Caminero, J. Benkendorf, J. Kerner,
C. Isaacs, J. Barter and C. Lerman, Ethnic differences in
knowledge and attitudes about BRCA1 testing in women at
increased risk, Patient Educ Couns 32 (1997), 51–62.
[48] P.B. Jacobsen, H.B. Valdimarsdottir, K.L. Brown and K. Of-
fit, Decision-making about genetic testing among women at
familial risk for breast cancer, Psychosom Med 59 (1997),
459–466.
[49] C. Julian-Reynier, F. Eisinger and F. Chabal, Cancer genetics
clinics: Target populations and consultees’ expectations, Eur
J Cancer 32A (1996), 398–403.
[50] C. Julian-Reynier, F. Eisinger, J. Moatti and H. Sobol, Physi-
cians’ attitudes towards mammography and prophylactic
surgery for hereditary breast/ovarian cancer risk and subse-
quently published guidelines, Eur J Hum Genet 8(2000),
204–208.
[51] C.M. Julian-Reynier, L.J. Bouchard, D.G. Evans, F.A.
Eisinger, W.D. Foulkes, B.Kerr, I.R.Blancquaert, J.P. Moat-
ti, H.H. Sobol, C.M. Julian-Reynier, L.J. Bouchard, D.G.
Evans, F.A. Eisinger, W.D. Foulkes, B. Kerr, I.R. Blanc-

122 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
quaert, J.P.Moatti and H.H. Sobol, Women’sattitudes toward
preventive strategies for hereditary breast or ovarian carci-
noma differ from one country to another: differences among
English, French, and Canadian women, Cancer 92 (2001),
959–968.
[52] E. Julian-Reynier, F. Chabal, Y. Aurran, Y.J. Bignon, C.
Nogues, M. Machelard, C. Maugard, P. Vennin and H. Sobol,
Cancer genetic clinics: Why do women who already have
had cancer attend? Eur J Cancer 34 (1998), 1549–1553.
[53] J. Julian-Reynier, H. Sobol, C. Sevilla, C. Nogues, P. Bourret
and the French Cancer Genetic Network, Uptake of hered-
itary breast/ovarian cancer genetic testing in a French na-
tional sample of BRCA1 families, Psychooncology 9(2000),
504–510.
[54] N.D. Kauff, J.M. Satagopan, M.E. Robson, L. Scheuer, M.
Hensley, C.A. Hudis, N.A. Ellis, J. Boyd, P.I. Borgen, R.R.
Barakat, L. Norton, M. Castiel, K. Nafa, K. Offit, N.D.Kauff,
J.M. Satagopan, M.E. Robson, L. Scheuer, M. Hensley, C.A.
Hudis, N.A. Ellis, J. Boyd, P.I. Borgen, R.R. Barakat, L.
Norton, M. Castiel, K. Nafa and K. Offit, Risk-reducing
salpingo-oophorectomy in women with a BRCA1 or BRCA2
mutation, see comment, N Engl J Med 346 (2002), 1609–
1615.
[55] L.A. Keogh, M.C. Southey, J. Maskiell, M.A. Young, C.L.
Gaff, J. Kirk, K.M. Tucker, D. Rosenthal, M.R. McCredie,
G.G. Giles, J.L. Hopper, L.A. Keogh, M.C. Southey, J. Mask-
iell, M.-A. Young,C.L. Gaff, J. Kirk, K.M. Tucker, D. Rosen-
thal, M.R.E. McCredie, G.G. Giles and J.L. Hopper, Uptake
of offer to receive genetic information about BRCA1 and
BRCA2 mutations in an Australian population-based study,
Cancer Epidemiology, Biomarkers & Prevention 13 (2004),
2258–2263.
[56] A. Kinney, L. Bloor, D. Mandal, S. Simonsen, B. Baty,
R. Holubkov, K. Seggar, S. Neuhausen and K. Smith, The
impact of receiving genetic test results on general and
cancer-specific psychological distress among members of an
African-American kindred with a BRCA1 mutation, Cancer
104 (2005), 2508–2516.
[57] J.O.D. Klemp, A. Chamberlain and C. Fabian, CJ, Patient
Satisfaction of BRCA1/2 genetic testing by women at high
risk for breast cancer participating in a prevention trial, Fa-
milial Cancer 4(2005), 279–284.
[58] J. Klijn, N. Janin, H. Cortes-Funes and R. Colomer, Should
prophylactic surgery be used in women with a high risk of
breast cancer? , Eur J Cancer Prev 33 (1997), 2149–2159.
[59] S. Lee, B. Bernhardt and K. Helzsouer, Utilization of BR-
CA1/2 genetic testing in the clinical setting, Cancer 94
(2002), 1876–1885.
[60] C. Lerman, B. Biesecker and J.L. Benkendorf, Controlled
trial of pretest education approaches to enhance informed
decision-making for BRCA1 gene testing., J Natl Cancer Inst
89 (1997), 148–157.
[61] C. Lerman, M. Daly, A. Masny and A. Balshem, Attitudes
about genetic testing for breast-ovarian cancer susceptibility,
J Clin Oncol 12 (1994), 843–850.
[62] C. Lerman, C. Hughes, R.T. Croyle, D. Main, C. Durham, C.
Snyder, A. Bonney, J.F. Lynch, S.A. Narod, H.T. Lynch, C.
Lerman, C. Hughes, R.T. Croyle, D. Main, C. Durham, C.
Snyder, A. Bonney, J.F. Lynch, S.A.Narod and H.T. Lynch,
Prophylactic surgery decisions and surveillance practices one
year following BRCA1/2 testing, Prev Med 31 (2000), 75–80.
[63] C. Lerman, C. Hughes, S.J. Lemon, D. Main, C. Snyder, C.
Durham, S. Narod, H.T.Lynch, C. Lerman, C. Hughes, S.J.
Lemon, D. Main, C. Snyder, C. Durham, S. Narod and H.T.
Lynch, What you don’t know can hurt you: adverse psy-
chologic effects in members of BRCA1-linked and BRCA2-
linked families who decline genetic testing, see comment, J
Clin Oncol 16 (1998), 1650–1654.
[64] C. Lerman, S. Narod, K. Schulman, C. Hughes, A. Gomez-
Caminero, G. Bonney, K. Gold, B. Trock, D. Main, J. Lynch,
C. Fulmore, C. Snyder, S.J. Lemon, T. Conway, P. Tonin,
G. Lenoir and H. Lynch, BRCA1 testing in families with
hereditary breast-ovarian cancer, Journal of the American
Medical Association 275 (1996), 1885–1892.
[65] C. Lerman, J. Seay, A. Balshem and J. Audrain, Interest in
genetic testing among first-degree relatives of breast cancer
patients, American Journal of Medical Genetics 57 (1995),
385–392.
[66] J. Lim, M. Macluran, M. Price, B. Bennett, P. Butow and
kConFab Psychosocial Group, Short- and long-term impact
of receiving genetic mutation results in women at increased
risk for hereditary breast cancer, Journal of Genetic Coun-
seling 13 (2004), 115–133.
[67] S. Loader, C.G. Shields and P.T. Rowley, Impact of genetic
testing for breast-ovarian cancer susceptibility, Genet Test 8
(2004), 1–12.
[68] E. Lobb, P. Butow, B. Meiser, K. Tucker and A. Barratt,
How do geneticists and genetic counselors counsel women
from high-risk breast cancer families? Journal of Genetic
Counseling 10 (2001), 185–199.
[69] L. Lodder, P.G. Frets, R.W. Trijsburg, E.J. Meijers-Heijboer,
J.G. Klijn, H.J. Duivenvoorden, A. Tibben, A. Wagner, C.A.
van der Meer, A.M. van den Ouweland, M.F. Niermeijer, L.
Lodder, P.G. Frets, R.W. Trijsburg, E.J. Meijers-Heijboer,
J.G. Klijn, H.J. Duivenvoorden, A. Tibben, A. Wagner, C.A.
van der Meer,A.M. van den Ouweland and M.F. Niermeijer,
Psychological impact of receiving a BRCA1/BRCA2 test re-
sult, American Journal of Medical Genetics 98 (2001), 15–
24.
[70] L. Lodder, P.G. Frets, R.W. Trijsburg, E.J. Meijers-Heijboer,
J.G.M. Klijn, C. Seynaeve, A. van Geel, M. Tilanus, C. Bar-
tles, L. Verhoog, C. Brekelmans, C. Burger and M. Niermey-
er, One year follow-up of women opting for presymptomatic
testing for BRCA1 and BRCA2: Emotional impact of the test
outcome and decisions on risk management (surveillance or
prophylactic surgery), Breast Cancer Res Treat 73 (2002),
97–112.
[71] L. Lodder, P.G. Frets, R.W. Trijsburg, J.G.M. Klijn, C. Sey-
naeve, C., M.A.M. Tilanus, C.C.M. Bartels, E.J. Meijers-
Heijboer, L.C. Verhoog and M.F. Niermeijer, Attitudes and
distress levels in women at risk to carry a BRCA1/BRCA2
gene mutation who decline genetic testing, American Journal
of Medical Genetics 119A (2003), 266–272.
[72] A.M. Lucassen and R.S. Houlston, Clinical geneticists’ atti-
tudes and practice towards testing for breast cancer suscepti-
bility genes, J Med Genet 37 (2000), 157–160.
[73] H.T. Lynch, C. Snyder; J.F. Lynch, P. Karatoprakli, A.
Trowonou, K. Metcalfe, S.A. Narod and G. Gong, Patient
responses to the disclosure of BRCA mutation tests in heredi-
tary breast-ovarian cancer families, Cancer Genet Cytogenet
165 (2006), 91–97.
[74] H.T. Lynch, S.J. Lemon, C. Durham, S.T.Tinley, C. Connol-
ly, J.F. Lynch, J. Surdam, E. Orinion, S. Slominski-Caster,
P. Watson, C. Lerman, P. Tonin, G. Lenoir, O. Serova and S.
Narod, A descriptive study of BRCA1 testing and reactions to
disclosure of testing results, Cancer 79 (1997), 2219–2228.

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 123
[75] H.T. Lynch, T. Smyrk and J. Lynch, An update of HNPCC
(Lynch Syndrome), Cancer Genet Cytogenet 93 (1997), 84–
99.
[76] H.T. Lynch, P. Watson, T.A. Conway, J.F. Lynch, S.M.
Slominski-Caster, S.A. Narod, J. Feunteun, G. Lenoir, H.T.
Lynch, P. Watson, T.A. Conway, J.F.Lynch, S.M. Slominski-
Caster, S.A. Narod, J. Feunteun and G. Lenoir, DNA screen-
ing for breast/ovarian cancer susceptibility based on linked
markers. A family study, Arch Intern Med 153 (1993), 1979–
1987.
[77] E. Matloff, H. Shappell, K. Brierley, B.A. Bernhardt, W.
McKinnon and B.N. Peskin, What would you do? Spe-
cialists’ pespectives on cancer genetic testing, prophylac-
tic surgery, and insurance discrimination, J Clin Oncol 18
(2000), 2484–2492.
[78] G. Matthijs, The European opposition against the BRCA gene
patents, Familial Cancer 5(2006), 95–102.
[79] E.J. Meijers-Heijboer, L.C. Verhoog, C.T. Brekelmans, C.
Seynaeve, M.M. Tilanus-Linthorst, A. Wagner, L. Dukel, P.
Devilee, A.M. van den Ouweland, A.N.van Geel, J.G. Klijn,
E.J. Meijers-Heijboer, L.C. Verhoog, C.T. Brekelmans, C.
Seynaeve, M.M. Tilanus-Linthorst, A. Wagner, L. Dukel, P.
Devilee, A.M. van den Ouweland, A.N. van Geel and J.G.
Klijn, Presymptomatic DNA testing and prophylactic surgery
in families with a BRCA1 or BRCA2 mutation, see comment,
Lancet 355 (2000), 2015–2020.
[80] H. Meijers-Heijboer, B. van Geel, W.L. van Putten, S.C.
Henzen-Logmans, C. Seynaeve, M.B. Menke-Pluymers,
C.C. Bartels, L.C. Verhoog, A.M. van den Ouweland,
M.F. Niermeijer, C.T. Brekelmans, J.G. Klijn, H. Meijers-
Heijboer, B. van Geel, W.L. van Putten, S.C. Henzen-
Logmans, C. Seynaeve, M.B. Menke-Pluymers, C.C. Bar-
tels, L.C. Verhoog, A.M. van den Ouweland, M.F. Niermei-
jer, C.T. Brekelmans and J.G. Klijn, Breast cancer after pro-
phylactic bilateral mastectomy in women with a BRCA1 or
BRCA2 mutation, see comment, N Engl J Med 345 (2001),
159–164.
[81] B. Meiser, Psychological impact of genetic testing for cancer
susceptibility: An update of the literature, Psychooncology
14 (2005), 1060–1074.
[82] B. Meiser, P. Butow, A. Barratt, G. Suthers, M. Smith, A.
Colley, E. Thompson and K. Tucker, Attitudes to genetic
testing for breast cancer susceptibility in women at increased
risk of developing hereditary breast cancer, J Med Genet 37
(2000), 472–476.
[83] B. Meiser, P.Butow, M. Friedlander, V. Schnieden, M. Gat-
tas, J. Kirk, G. Suthers, E. Haan and K. Tucker, Intention
to undergo prophylactic mastectomy in women at increased
risk of developing hereditary breast cancer, J Clin Oncol 18
(2000), 2250–2257.
[84] B. Meiser, M. Eisenbruch, K. Barlow, K. Tucker, Z. Steel and
D. Goldstein, Cultural aspects of cancer genetics: Setting a
research agenda, J Med Genet 38 (2001), 425–429.
[85] B. Meiser and J. Halliday, What is the impact of genetic
counseling in women at increased risk of developing hered-
itary breast cancer: A meta-analytic review, Soc Sci Med 54
(2002), 1463–1470.
[86] K. Metcalfe, A. Liede, E. Hoodfar, A. Scott, W. Foulkes
and S. Narod, An evaluation of needs of female BRCA1 and
BRCA2 carriers undergoing geneticcounselling, J Med Genet
37 (2000), 866–874.
[87] S. Michie, A. Allanson, D. Armstrong, J. Weinmann, M. Bo-
brow and T.M. Marteau, Objectives of genetic counselling:
Differing views of purchasers, providers and users, J Public
Health Med 20 (1998), 404–408.
[88] S. Michie, J. Smith, J. Heaversedge and S. Read, Genetic
counseling: Clinical geneticists’ views, Journal of Genetic
Counseling 8(1999), 275–287.
[89] Y. Murakami, H. Okamura, K. Sugano, T. Yoshida, K. Kazu-
ma, T. Akechi and Y. Uchitomi, Psychological distress after
disclosure of genetic testing results regarding hereditary non-
polypsos colorectalcarcinoma: A preliminary report, Cancer
101 (2004), 395–403.
[90] National Institutefor ClinicalExcellence, Clinical guidelines
for the classification and care of women at risk of familial
breast cancer (Clinical Guidelines 14). Developed by Na-
tional Collaborating Centre for Primary Care/University of
Sheffield (www.nice.org.uk), London: National Institute for
Clinical Excellence, May 2004.
[91] Genetic/familial high-risk assessment: Breast and Ovarian,
www.nccn.org.
[92] NSW Health, Genetics Services in NSW, 1996-2000, Sydney:
2002.
[93] S. Parthasarathy, The patent is political: The consequences
of patenting the BRCA genes in Britain, Community Genetics
8(2005), 235–242.
[94] N. Peters, A. Rose and K. Armstrong, The association be-
tween race and attitudes about predictive genetic testing,
Cancer Epidemiol Biomarkers Prev 13 (2004), 361–365.
[95] E. Petersen, K. Milliron, K. Lewis, S. Goold and S. Mera-
jver, Health insurance and discrimination concerns and BR-
CA1/2 testing in a clinical population, Cancer Epidemilogy,
Biomarkers and Prevention 11 (2002), 79–87.
[96] K. Phillips, J. MA, G. Lindeman, S. McLachlan, J. McKin-
ley, P. Weideman, J. Hopper, M. Friedlander and k. Investi-
gators., Risk-reducing surgery, screening and chemopreven-
tion practices of BRCA1 and BRCA2 mutation carriers: A
prospective study, Clin Genet 70 (2006), 198–206.
[97] K.A. Phillips, E. Warner, W.E. Meschino, J. Hunter, M. Ab-
dolell, G. Glendon, I. Andrulis and P.J. Goodwin, Percep-
tions of Ashkenazi Jewish breast cancer patients on genetic
testing for mutations in BRCA1 and BRCA2,Clin Genet 57
(2000), 376–383.
[98] T.R. Rebbeck, T. Friebel, H.T. Lynch, S.L. Neuhausen, L.
van ’t Veer, J.E. Garber, G.R. Evans, S.A. Narod, C. Isaacs, E.
Matloff, M.B. Daly, O.I. Olopade, B.L. Weber,T.R. Rebbeck,
T. Friebel, H.T. Lynch, S.L. Neuhausen, L. van ’t Veer, J.E.
Garber, G.R. Evans, S.A. Narod, C. Isaacs, E. Matloff, M.B.
Daly, O.I. Olopade and B.L. Weber, Bilateral prophylactic
mastectomy reduces breast cancer risk in BRCA1 and BRCA2
mutation carriers: the PROSE Study Group, see comment, J
Clin Oncol 22 (2004), 1055–1062.
[99] J.G. Reichelt, K. Heimdal, P. Moller and A.A. Dahl, BRCA1
testing with definitive results: A prospective study of psy-
chological distress in a large clinic-based sample, Familial
Cancer 3(2004), 21–28.
[100] M. Ropka, J. Wenzel, E. Phillips, M. Siadaty and J.Philbrick,
Uptake rates for breast cancer genetic testing: A systematic
review, Cancer Epidemiol Biomarkers Prev 15 (2006), 840–
855.
[101] L. Scheuer, N. Kauff, M. Robson, B. Kelly, R. Barakat, J.
Satagopan, N. Ellis, M. Hensley, J. Boyd, P. Borgen, L.
Norton and K. Offit, Outcome and preventive surgery and
screening for breast and ovarian cancer in BRCA mutation
carriers, J Clin Oncol 20 (2002), 1260–1268.
[102] J. Schmidtke, B. Pabst and I. Nippert, DNA-based genet-
ic testing is rising steeply in a national health care system

124 B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
with open access to services: a survey of genetic test use in
Germany, 1996–2002, Genet Test 9(2005), 80–84.
[103] M. Schwartz, C. Hughes, J. Roth, D. Main, B. Peshkin, C.
Isaacs, C. Kavanaghand C. Lerman, Spiritual faith and genet-
ic testing decisions among high-risk breast cancer probands,
Cancer Epidemiol Biomarkers Prev272 (2000), 1885–1892.
[104] M. Schwartz, C. Lerman, B. Brogan, B. Peshkin, C. Hughes
Halbert, T. DeMarco, W. Lawrence et al., Impact of BRCA1/2
counseling and testing on newly diagnosed breast cancer
patients, J Clin Oncol 22 (2004), 1823–1829.
[105] M.D. Schwartz, B.N. Peshkin, C. Hughes, D. Main, C. Isaacs
and C. Lerman, Impact of BRCA1/BRCA2 mutation testing
on psychological distress in a clinic-based sample, J Clin
Oncol 20 (2002), 514–520.
[106] M.D. Schwartz, E. Kaufman, B.N. Peshkin, C. Isaacs, C.
Hughes, T. DeMarco, C. Finch and C. Lerman, Bilateral pro-
phylactic oophorectomy and ovarian cancer screening fol-
lowing BRCA1/BRCA2 mutation testing, J Clin Oncol 21
(2003), 4034–4041.
[107] C. Scott, D. Iorgulescu, H. Thorne, M. Henderson and K.
Phillips, Clinical, pathological and genetic features ofwomen
at high familial risk of breast cancer undergoing prophylactic
mastectomy, Clin Genet 64 (2003), 111.
[108] K.R. Smith, J.A. West, R.T. Croyle and J.R. Botkin, Famil-
ial context of genetic testing for cancer susceptibility: Mod-
erating effect of siblings’ test result on psychological dis-
tress one to two weeks after BRCA1 mutation testing, Cancer
Epidemiol Biomarkers Prev 8(1999), 385–392.
[109] M.E. Stefanek, Bilateral prophylactic mastectomy: Issues
and concerns, J Natl Cancer Inst Monograph No. 17 (1995),
37–42.
[110] T. Stermer, S. Hodgson, F. Kavalier, S. Watts and R. Jones,
Patients’ and professionals’ opinions of services for people
at an increased risk of colorectal cancer: An exploratory
qualitative study, Familial Cancer 3(2004), 49–53.
[111] J.P. Struewing, C. Lerman, R.G. Kase, T.R. Giambarresi and
M.A. Tucker, Anticipated uptake and impact of genetic test-
ing in hereditary breast and ovarian cancer, Cancer Epidemi-
ol Biomarkers Prev 4(1995), 169–173.
[112] K.P. Tercyak, C. Lerman, B.N. Peshkin, C. Hughes, D. Main,
C. Isaacs and M.D. Schwartz, Effects of coping style and
BRCA1 and BRCA2 test results on anxiety among women
participating in genetic counseling and testing for breast and
ovarian cancer risk, Health Psychol 20 (2001), 217–222.
[113] H.S. Thompson, H.B. Valdimarsdottir, L. Jandorf and W.
Redd, Perceived disadvantages and concerns about abuses of
genetic testing for cancer risk: Differences across African
American, Latina and Caucasian women, Patient Education
& Counseling 51 (2003), 217–227.
[114] K. Tiller, B. Meiser, P. Butow, M. Clifton, B. Thewes, M.
Friedlander and K. Tucker, Psychological impact of prophy-
lactic oophorectomy in women at risk of developing ovarian
cancer, Gynecol Oncol 86 (2002), 212–219.
[115] U.S. Preventive Services Task Force, Genetic risk assessment
and BRCA mutation testing for breast and ovarian cancer sus-
ceptibility: Recommendation statement, Annals of Internal
Medicine 143 (2005), 355–361.
[116] C. van Asperen, G. de Bock, F. van der Horst, H. de Konig
and E. Rutgers, Screening for breast cancer on the basis of
individual risk assessment for women eligible for the national
screening program (in Dutch), Ned Tijdschr Geneeskd 145
(2001), 120–125.
[117] C.J. Van Asperen, S. Van Dijk, M.W. Zoeteweij, D.R. Tim-
mermans, G.H. De Bock, E.J. Meijers-Heijboer, M.F. Nier-
meijer, M.H. Breuning, J. Kievit, W. Otten, C.J. Van As-
peren, S. Van Dijk, M.W. Zoeteweij, D.R.M. Timmermans,
G.H. De Bock, E.J. Meijers-Heijboer, M.F. Niermeijer, M.H.
Breuning, J. Kievit and W. Otten, What do women really
want to know? Motives for attending familial breast cancer
clinics, comment, J Med Genet 39 (2002), 410–414.
[118] S. van Dijk, W. Otten, M.W. Zoeteweij, D.R. Timmermans,
C.J. van Asperen, M.H. Breuning, R.A. Tollenaar and J.
Kievit, Genetic counselling and the intention to undergo pro-
phylactic mastectomy: effects of a breast cancer risk assess-
ment, Br J Cancer 88 (2003), 1675–1681.
[119] S.T. van Dijk, D. R; Meijers-Heijboer, H; Tibben , A; van
Asperen, C. J; Otten, W., Clinical characeristics affect the
impact of an uninformatie DNA test result: The course of
worry and distress experienced by women who apply for
genetic testing for breast cancer, J Clin Oncol 24 (2006),
3672–3677.
[120] I. van Oostrom, E. Meijers-Heijboer, H. Duivenvoorden, A.
Brocker-Vriends, C. van Asperen, R. Sijmons, C. Seynaeve,
A. van Gool, J. Klijn and A. Tibben, Family System Char-
acteristics and Psychological Adjustment to Cancer Suscep-
tibility Genetic Testing: a Prospective Study, Clin Genet 71
(2007), 35–42.
[121] I. van Oostrom, H. Meijers-Heijboer, H. Duivenvoorden, A.
Brocker-Vriends, C. van Asperen, R. Sijmons, C. Seynaeve,
A. van Gool, J. Klijn and A. Tibben, Experience of Parental
Cancer in Childhood Is a Risk Factor for Psychological Dis-
tress During Genetic Cancer Susceptibility Testing, Annals
Oncology 17 (2006), 1090–1095.
[122] I. van Oostrom, H. Meijers-Heijboer, L. Lodder, H. Duiv-
envoorden, A. van Gool, C. Seynaeve, C. van der Meer, J.
Klijn, B. van Geel, C. Burger, J.Wladimiroff and A. Tibben,
Long-term psychological impact of carrying a BRCA1/2 mu-
tation and prophylactic surgery: A 5-year follow-up study, J
Clin Oncol 21 (2003), 3867–3874.
[123] M.S. van Roosmalen, P.F. Stalmeier, L.C. Verhoef, J.E.
Hoekstra-Weebers, J.C. Oosterwijk, N. Hoogerbrugge, U.
Moog, W.A. van Daal, M.S. van Roosmalen, P.F.M.
Stalmeier, L.C.G. Verhoef, J.E.H.M. Hoekstra-Weebers, J.C.
Oosterwijk, N. Hoogerbrugge, U. Moogand W.A.J.van Daal,
Impact of BRCA1/2 testing and disclosure of a positive test
result on women affected and unaffected with breast or ovari-
an cancer, American Journal of Medical Genetics Part A 124
(2004), 346–355.
[124] A. Vodermaier, Prophylaktische Chirurgie bei Brust-und
Eierstockkrebsrisiko aus psychologischer Perspektive Pro-
phylactic surgery in women at risk for breast and ovarian
cancer from a psychological perspective, Dissertation, LMU
Munich: Faculty of Psychology and Educational Sciences,
2005, http://edoc.ub.uni-muenchen.de/archive/00004248/.
[125] S. Wainberg and J. Husted, Utilization of screening and pre-
ventive surgeryamong unaffected carriers ofBRCA1 and BR-
CA2 gene mutation, Cancer Epidemiolgy, Biomarkers and
Prevention 13 (2004), 1989–1995.
[126] M. Watson, C. Foster, R. Eeles, D. Eccles, S. Ashley, R.
Davidson, J. Mackay, P.Morrison, P. Hopwood and D. Evans,
Psychosocial impact of breast/ovarian (BRCA1/2) cancer-
predictive genetic testing in a UK multi-centre cohort, Br J
Cancer 91 (2004), 1787–1794.
[127] M. Watson, V. Murday, B. Ponder, D. Averill and R. Eeles,
Genetic testing in breast/ovarian cancer (BRCA1) families,
Lancet 346 (1995), 583.
[128] J. Weil, Multicultural education and genetic counseling, Clin
Genet 59 (2001), 143–149.

B. Meiser et al. / International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk 125
[129] D. Wonderling, P. Hopwood, A. Cull, F. Douglas, M.Watson,
J. Burn and K. McPherson, A descriptive study of UK cancer
genetic services: an emerging response to the new genetics,
Br J Cancer 85 (2001), 166–170.
[130] U. Worringen, Genetische Diagnostik bei famili¨
arem Brust-
und Eierstockkrebs: Risikowahrnehmung, Fr¨
uherkennung-
sverhalten, Einstellungen und Untersuchungsintention Ge-
netic testing for hereditary breast and ovarian cancer: risk
perception, prevention behavior, attitudes and intention to
get tested, Dissertation, University of Freiburg: Faculty of
Philosophy I, 2001, http://www.freidok.uni-freiburg.de/
volltexte/435/.