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Should genetic testing for BRCA12 be permitted for minors Opinions of BRCA mutation carriers and their adult offspring.

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American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 148C:70 –77 (2008)
A R T I C L E
Should Genetic Testing for BRCA1/2 Be Permitted
for Minors? Opinions of BRCA Mutation Carriers
and Their Adult Offspring
ANGELA R. BRADBURY,* LINDA PATRICK-MILLER, KIMBERLY PAWLOWSKI, COMFORT N. IBE,
SHELLY A. CUMMINGS, OLUFUNMILAYO I. OLOPADE, AND CHRISTOPHER K. DAUGHERTY
Although professional guidelines recommend against testing minors for adult-onset genetic conditions, the
genetic testing of minors for BRCA1/2 alterations has been debated in the literature. To better understand the
opinions of BRCA mutation carriers regarding the genetic testing of minors and the cognitive and affective
processes underlying these opinions, we interviewed BRCA mutation carriers and their adult offspring who had
learned of their parent’s BRCA mutation. Semi-structured interviews were conducted with 53 parents and 22
offspring. In response to a closed-ended question, 52% (n ¼ 39) of participants were opposed to the testing
of minors. Responses to an open-ended question indicate that many participants (24%, n ¼ 18) feel that testing
could be permitted for some minor offspring. Psychological risks and the insufficient maturity of minors were
frequent concerns of participants opposed to testing minors. The potential to impact health behaviors was
frequently cited as a reason to support the genetic testing of minors. These preliminary results suggest that many
BRCA mutation carriers and their adult offspring have concerns about, or are opposed to the genetic testing
of minors. However, a significant minority in our study would support testing minors. Greater support for testing
among offspring could indicate increasing requests for early genetic diagnosis. Further research is necessary to
explore the risks and benefits of providing genetic testing to minors for adult-onset hereditary cancer syndromes
in order to inform clinical practice and public policy and to ensure optimal psychosocial and medical outcomes for
all members in families at risk for genetically determined disease. ß 2008 Wiley-Liss, Inc.
KEY WORDS: BRCA1/2; genetic testing; children; ethics
How to cite this article: Bradbury AR, Patrick-Miller L, Pawlowski K, Ibe CN, Cummings SA, Olopade OI,
Daugherty CK. 2008. Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA
mutation carriers and their adult offspring. Am J Med Genet Part C Semin Med Genet 148C:70–77.
INTRODUCTION
With scientific advances in the genomic
era there has been increasing identification of genetic alterations associated
with predispositions to a variety of
medical conditions. In many cases,
manifestations of the disease do not
occur until adulthood, such as in
Huntington disease and hereditary
breast and ovarian cancer. The availability of predictive genetic testing
for these conditions has raised several
ethical dilemmas, including the testing
of minors for adult-onset diseases. The
majority of professional groups have
recommended against the genetic testing of minors for adult-onset diseases in
Angela R. Bradbury, M.D., is an Associate Member at the Fox Chase Cancer in the Divisions of Population Science and Medical Science and Director
of the Margaret Dyson Family Risk Assessment Program. She was formerly faculty at the University of Chicago and the MacLean Center for Clinical
Medical Ethics. Her research interests focus on ethical dilemmas in cancer risk assessment and predictive genetic testing for hereditary cancer.
Linda Patrick-Miller, Ph.D., is Director of the Division of Behavioral Science at the Cancer Institute of New Jersey and Assistant Professor in the
Department of Psychiatry at the University of Medicine & Dentistry of New Jersey, Robert Wood Johnson Medical School. Her research interests focus
on the biopsychosocial factors that mediate utilization of and response to cancer risk assessment and genetic testing for hereditary cancers.
Kimberly Pawlowski is a research assistant at the University of Chicago and a doctoral student in Psychology at Illinois Institute of Technology.
Comfort N. Ibe is a research assistant and medical student at the University of Chicago.
Shelly A. Cummings, M.S., is a genetic counselor and Assistant Director of the University of Chicago Cancer Risk Clinic.
Olufunmilayo I. Olopade, M.D., is a Professor of Medicine in the Section of Hematology/Oncology and is the Director of the Center for Clinical
Cancer Genetics and the Cancer Risk Clinic at the University of Chicago.
Christopher K. Daugherty, M.D., is an Associate Professor of Medicine in the Section of Hematology/Oncology and Chairman of the University
of Chicago Biological Sciences Division’s Institutional Review Board. His research has focused on ethical issues in cancer care and clinical research
ethics.
Grant sponsor: Greenwall Foundation, Program in Bioethics; Grant sponsor: American Society of Clinical Oncology, Young Investigator Award;
Grant sponsor: American Cancer Society; Grant number: MRSG-07-014-01-CPPB.
*Correspondence to: Angela R. Bradbury, M.D., Fox Chase Cancer Center, 333 Cottman Ave., Philadelphia, PA 19111.
E-mail: angela.bradbury@fccc.edu
DOI 10.1002/ajmg.c.30163
ß 2008 Wiley-Liss, Inc.
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
the absence of medical benefit [Clarke,
1994; IOM, 1994; ASHG/ACMG,
1995; AAP, 2001; ASCO, 2003].
Unlike individuals who have a
genetic alteration associated with Huntington disease, carriers of a BRCA1/2
alteration will not necessarily develop
cancer. They do have a significantly
increased risk for breast cancer (up to
85% lifetime risk) and ovarian cancer (up
to 44% lifetime risk) [Ford et al., 1998;
Antoniou et al., 2003]. Additionally,
effective risk reduction options, such
as prophylactic surgeries, heightened
surveillance and/or chemoprevention
are available to BRCA1/2 mutation
carriers. These risk reduction options
are generally not recommended until the
age of 25 [Burke et al., 1997; Daly et al.,
2004]. Thus, it has been argued that
there is no medical benefit to testing
minors for BRCA1/2 alterations
[Clarke, 1994; ASHG/ACMG, 1995;
Kodish, 1999]. Despite professional
guidelines recommending against testing minors, there is still debate in the
literature including both ethical and
clinical arguments for, and against, the
testing of minors for BRCA mutations
and other adult-onset genetic disorders
[Cohen, 1998]. Proponents of testing
minors have argued that there is harm in
uncertainty and withholding information [Cohen, 1998; Rhodes, 2006], and
the potential for later misdiagnosis. As
well, proponents have argued that there
is value in permitting testing in adolescence, including the fostering autonomous decision making abilities [Wertz
et al., 1994; Michie, 1996; Elger and
Despite professional guidelines
recommending against
testing minors, there is still
debate in the literature
including both ethical and
clinical arguments for, and
against, the testing of minors
for BRCA mutations and other
adult-onset genetic disorders.
Harding, 2000]. Additionally, many
argue that parents and their children are
more likely than health care professionals
to most appropriately assess the risks and
benefits of testing an individual child
[Sharpe, 1993b; Cohen, 1998; Robertson and Savulescu, 2001]. Opponents of
testing minors argue that the development of mature decision-making is
variable during adolescence [Richards,
2006] and letting parents make testing
decisions for their minor children violates the future autonomy of offspring
[Bloch and Hayden, 1990; Clarke,
1994]. Opponents have also cited potential adverse psychological consequences
to early testing, including increased
disease-related distress and anxiety, distortion of family relationships [Wertz
et al., 1994], interference in normal
development of self-concept [Wertz
et al., 1994], and feelings of unworthiness [Bloch and Hayden, 1990; Sharpe,
1993a; Quaid, 1994; Wertz et al., 1994].
Despite this debate, empirical data to
support either argument are lacking,
especially in the setting of families
affected by BRCA mutations.
Initial studies involving the general
public [Wertz and Reilly, 1997],
health care providers [Clarke, 1994],
mothers of pediatric oncology patients
[Patenaude et al., 1996] and unaffected
first-degree relatives of breast and
ovarian cancer patients [Benkendorf
et al., 1997] suggested high levels of
interest in the genetic testing of minors
for cancer susceptibility genes, even in
the absence of medical benefit. Subsequent studies specifically involving
parents and offspring from hereditary
cancer families have suggested lower
levels of interest and a concern for
potential negative psychological and
social outcomes with clinical or research
predictive genetic testing [Geller et al.,
2000; Hamann et al., 2000; Bernhardt
et al., 2003].
As suggested by Hamman et al., the
experiences and opinions of individuals
who have undergone BRCA testing can
be particularly informative in considering this debate. Not only is the controversy directly relevant to them, they
are the most immediate potential consumers of such testing and have the most
71
relevant understanding of what it means
to live with a predisposition diagnosis
[Juengst, 1995; Hamann et al., 2000].
Hammann et al. evaluated the opinions
of individuals from a single BRCA1
kindred who participated in research
testing and reported that the majority
(75%) of participants were opposed to
the testing of minors. Factors statistically
associated with support of testing minors
included being male, having positive
perceptions of genetic testing and not
having a mother affected with breast
cancer [Hamann et al., 2000]. Why
individuals supported or opposed testing
were not explored in this prior study
and, to our knowledge, have not been
described in the literature.
To better understand the opinions
of BRCA mutation carriers regarding
the genetic testing of minors and the
cognitive and affective processes underlying these opinions, we interviewed
BRCA mutation carriers who underwent clinical genetic testing and had
children under 25 years old at the time
they received their test results. Additionally, we interviewed these individuals’ adult offspring who had learned of
their parent’s BRCA mutation and had
thus become candidates for genetic
testing themselves. The goal of this study
was to generate hypotheses to guide
further research regarding the genetic
testing of minors.
MATERIALS AND METHODS
Study Population and Recruitment
Patients were recruited through the
University of Chicago Cancer Risk
Clinic. Parent participants included
BRCA1/2 mutation carriers who participated in a study evaluating parent
communication of genetic test results to
offspring and opinions regarding the
genetic testing of minors [Bradbury
et al., 2007]. Parent subjects were
contacted by a research assistant and
provided verbal consent by telephone.
The offspring subjects were recruited
through parent participants. After
obtaining Institutional Review Board
(IRB) approval, parents who reported
having revealed their BRCA mutation
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AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
status to their offspring were re-contacted. A research assistant described the
goals and procedures of the offspring
study, and invited parents to share this
information with their eligible adult
offspring. Parents subsequently provided
verbal consent and contact information
for the research assistant to contact the
offspring. Offspring were contacted
directly and the research assistant
obtained verbal informed consent for
the offspring telephone interview study.
As previously described, 53 (73% of
eligible parents) participated in the
survey [Bradbury et al., 2007]. Among
the parents who completed the interview, there were 44 adult offspring who
reportedly learned of their parent’s
BRCA mutation prior to the age of
25 years old. Six parents refused to
introduce the study to their offspring
and four could not be reached despite
repeated attempts, excluding 14 offspring. Of the remaining 30 eligible
adult offspring, three refused to participate after their parent introduced the
study. Five offspring agreed to contact,
but did not complete the survey. The
remaining 22 offspring who completed
the survey represent 50% of eligible
offspring in the cohort with a participation rate of 73% among offspring
who learned of the study from a parent.
Data Collection and Analysis
Semi-structured interviews were developed to elicit personal opinions. There
was no attempt to educate participants
regarding the topic of interest during
interviews and open-ended questions
allowed for prompts and exploration of
parent and offspring responses. IRB
approval was obtained. Relative to the
federal regulations and IRB review
involving research on genetic testing
for heritable disorders, a waiver of consent was obtained allowing for the
collection of specific information about
participant’s family members (including
minor children). Parent and offspring
participants were contacted by telephone and verbal consent was obtained.
Parent interviews were conducted by
two trained research assistants over
a 12-month time period (February
2004–February 2005). Interviews lasted
approximately 20–30 min. Offspring
interviews were conducted by a research
assistant over a 6-month time period
(September 2006–March 2007) and
lasted 15–40 min. Participant responses
were recorded and entered into a database for further coding and analysis using
STATA (version 9.0).
A thematic analysis of the responses
was completed using the method of
constant comparison [Strauss and Corbin, 1990]. Investigators intensively
reviewed descriptive responses to openended questions and coding schemas
were developed through open coding.
Two investigators (AB, LPM) independently assigned codes to all descriptive
responses. The inter-coder reliability for
responses to the open-ended question
was 98%. Agreement was then established for all responses. Response
proportions to individual structured
questions and coded responses are utilized to summarize results and representative individual responses have been
selected to characterize the data.
ARTICLE
RESULTS
Demographics
The study sample consists of 75 adults
including 53 BRCA1/2 mutation
carriers and 22 of their adult offspring.
Participant demographic characteristics
are described in Table I. The majority
of parent participants were mothers,
although the offspring sample consisted
of both sons and daughters. Overall, 21%
of participants were male and the
majority of participants were white and
with at least some college education. All
parents had received genetic counseling
and testing. All offspring were eligible
for genetic testing and seven had undergone site-specific genetic testing, with
three testing positive for the familial
mutation.
Opinions Regarding the Genetic
Testing of Minors
All subjects were asked if they feel that
children under the age of 18 years old
TABLE I. Participant Characteristics
Age in years
Median (range)
Gender
Women
Men
Race
White
Black
Hispanic
Education
Graduate
College
Some collegea
High school
Marital status
Married
Never married
Divorced/widowed
History of cancer
Yes
History of genetic testing
Yes
Parents
(n ¼ 53) no. (%)
Offspring
(n ¼ 22) no. (%)
Total
(n ¼ 75) no. (%)
45 (28–66)
26 (18–33)
43 (18–66)
47 (89)
6 (11)
12 (55)
10 (45)
59 (79)
16 (21)
50 (94)
1 (2)
2 (4)
20 (91)
1 (5)
1 (5)
70 (93)
2 (3)
3 (4)
16 (30)
21 (40)
7 (13)
9 (17)
5 (23)
7 (32)
8 (36)
2 (9)
47 (89)
0 (0)
6 (11)
9 (41)
13 (59)
0 (0)
56 (75)
13 (17)
6 (8)
28 (53)
0 (0)
28 (37)
53 (100)
7 (32)
60 (80)
21
28
15
11
(28)
(37)
(20)
(17)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
should be given the opportunity to have
genetic testing for BRCA1/2. In
response to the single closed-item question regarding testing minors, approximately half (52%) of all participants
were opposed to the genetic testing
of minors. While the numbers are small
and this study remains qualitative and
descriptive, it is interesting to note that
responses differed both by generation
and gender. A majority of mothers (32 of
47) opposed the genetic testing
of minors, and a majority of fathers
(4 of 6), sons (8 of 10) and daughters
(7 of 12) supported the genetic testing
of minors. Slightly less than half (47%) of
participants with at least some college
education and a majority of participants
with formal education limited to high
school (82%) opposed the genetic testing
of minors. When offspring opinions
were compared to parents’ opinions to
the single-response item, the majority of
offspring (61%) reported a different
opinion than their parent.
Participants were asked to explain
why they supported or opposed the
genetic testing of minors for BRCA1/2
in an open-ended question. Forty-one
of 75 subjects provided descriptive
responses opposing the genetic testing
of minors, while 18 participants provided descriptive responses supporting
the genetic testing of minors in
specific circumstances (Table II). As in
their responses to the closed questions,
the majority of mothers provided
open-ended responses consistent with
opposition to the testing of minors.
Many daughters provided descriptive
responses consistent with opposition to
the testing of minors, although some
provided responses supporting conditional testing of minors in specific
situations (Table II). Among the small
number of fathers and sons interviewed,
many provided open-ended responses
expressing either conditional or unconditional support for the testing of minors
(Table II).
Reasons for Opposing the Genetic
Testing of Minors
The most common reasons given for
opposing the genetic testing of minors
were the lack of a medical indication
The most common reasons
given for opposing the genetic
testing of minors were the
lack of a medical indication for
testing, insufficient maturity
of minors and concerns
that testing could cause anxiety
or fear among offspring.
for testing, insufficient maturity of
minors and concerns that testing could
cause anxiety or fear among offspring
(Table II). Among mothers, the most
TABLE II. Reasons for Supporting or Opposing Genetic Testing of Minors*
Coded response
Opposed to genetic testing of minors
There is no medical indication
It could cause anxiety or fear
Minors are not mature enough for the information
It could affect decisions regarding childbearing
It should be delayed so the offspring can decide
In support of genetic testing of minors (n ¼ 22)
Information can foster healthy behavior
Offspring have a right to testing
To inform childbearing
Age does not matter
No harm to testing
To eliminate uncertainty
Under some circumstances genetic testing of minors
could be considered
If the offspring is exceptionally mature
If parent/offspring perceive a medical indication
If the parent desires testing
If the offspring desires testing
If the offspring is female
If the doctor recommends testing
73
Total no. (%)
respondents
Mothers no.
(n ¼ 47)
Fathers no. Daughters no.
(n ¼ 6)
(n ¼ 12)
41 (55)
19 (46)
19 (46)
18 (46)
2 (5)
1 (3)
22 (29)
11 (50)
5 (23)
3 (14)
2 (9)
2 (9)
1 (5)
18 (24)
31 (66)
13
17
14
2
0
9 (19)
3
2
2
1
1
1
8 (17)
1 (17)
1
0
0
0
0
2 (33)
1
0
0
0
1
0
2 (33)
6 (50)
3
1
3
0
1
4 (33)
1
2
0
1
0
0
3 (25)
3 (30)
2
1
1
0
0
7 (70)
6
1
1
0
0
0
5 (50)
7 (39)
6 (33)
6 (33)
2 (11)
2 (11)
1 (6)
5
4
0
0
0
0
1
1
1
0
1
0
1
1
2
1
0
0
0
0
3
1
1
1
*Participants could provide more than one reason and one participant chose not to respond to the question.
Sons no.
(n ¼ 10)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
frequently reported concerns were
that minors were not mature enough
for the information and that it could
cause anxiety or fear.
From seeing my children, the
maturity level is not there [under
the age of 18 years old]. It would be
too traumatic (43-year-old mother).
Eighteen is the right age, before
then the risk of excess worry is
greater than the benefit from the
knowledge (38-year-old mother).
It is not necessary, in the middle
of growing up. They don’t need to
think about it (48-year-old mother).
Among all subjects, another frequently reported reason for not supporting the testing of minors was the lack of a
medical indication.
The impact is later in life, it
wouldn’t benefit them. There is no
current surveillance before 18 (48year-old father).
You can’t do anything at that age.
I don’t really see how the information could be helpful at this age
(28-year-old son).
It is not really necessary to know
that young . . .because you can’t act
on the information (25-year-old
daughter).
Reasons for Supporting the Genetic
Testing of Minors
Among subjects providing descriptive
responses in support of testing minors,
the potential for genetic testing to foster
healthy behavior was the most common
reason cited in support of testing minors.
Some indicated that testing could encourage offspring to engage in healthy
behaviors, while others indicated that
this information could assist parents
in encouraging offspring’s healthy
behaviors.
If there is no physical health risk,
give them knowledge early on. It is
better to know at an early age
because it could change early health
habits (20-year-old son).
The earlier the better, since you
have the gene when you’re born
you might as well find out. It can
give a better chance of preventative
care (47-year-old father).
Other common reasons provided
for supporting the testing of minors
included the offspring’s right to test, that
age should not be the deciding factor and
that the information could inform childbearing.
We are all born with a particular
genetic makeup that’s not any
different before eighteen (44-yearold mother).
It should be their choice. We
should leave it open to people (26year-old son).
Yes, because it might affect
thinking about family planning
(58-year-old mother).
Interestingly, the potential impact
on offspring decisions regarding childbearing was also a reason given to not
allow genetic testing of minors.
I don’t think a woman should get
tested until she has finished bearing
children (50-year-old mother).
Reasons for Supporting the
Genetic Testing of Minors in
Some Circumstances
As described above, the responses to the
open-ended question suggest that some
participants (24%) felt that genetic testing of minors could be considered in
certain circumstances. The most common indications provided were if minors
had adequate maturity, if either parent or
offspring perceived a medical benefit
and if the parent(s) desired testing.
Some children could handle the
results (52-year-old mother).
If the family history indicates
early preventative measures would
help (47-year-old mother).
Interestingly, many offspring indicated that testing could be allowed if a
parent desired testing for their minor
child.
ARTICLE
It’s up to the guardian if they want
to do it (24-year-old daughter).
The information has little relevance before the age of 18, but I
would want to do research for my
own children, and maybe I would
want them tested prior to the age of
18 (26-year-old male).
On the other hand, one daughter
identified the conflict between parent
and offspring autonomy, highlighting
the potential loss of offspring autonomy
in letting parents make the decision for
their children.
That would mean it’s the parent’s
decision and it should be the child’s
decision (18-year-old daughter).
Parent Opinions Regarding Testing
Their Own Children
Parents were asked if they would have
been interested in testing their own
children before the age of 18. Among
the 18 parents who supported genetic
testing of minors, 11 (61%) indicated
that they would be interested in testing
their own child. Alternatively, among
parents that did not support testing
minors, only 1 of 33 indicated that they
would have been interested in testing
their own child, although five reported
that they were unsure.
DISCUSSION
In this study, we have further described
the opinions of individuals from
BRCA1/2 families regarding the
genetic testing of minors for a familial
mutation. In response to two closed
questions 44% of participants supported
the genetic testing of minors for
BRCA1/2. However, only 25% indicated that they would have been interested in testing a minor child of their
own. As in other studies that have
incorporated open-ended questions to
facilitate dialogue and elicit patient
opinions and experiences, participant
responses to our open-ended question
seemed to elicit more thoughtful consideration of the risks and benefits of
testing minors [Geller et al., 2000;
Bernhardt et al., 2003]. These responses
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
suggest that fewer participants unconditionally support testing. However, 24%
described specific scenarios in which
they would support testing of minors,
including cases of mature minors and
parent or offspring perceptions of benefit. The descriptive responses suggest
that further research of the potential
psychological risks of testing minors, the
assessment of adolescent maturity and
the impact of early genetic testing on
health behaviors could be relevant to
potential consumers of genetic testing
for BRCA mutations, their health care
providers and policy makers.
In this study, we found a somewhat
higher proportion of participants supporting the testing of minors than
previously reported among a single
BRCA1 kindred where participants
were presented with a similar closedresponse question [Hamann et al., 2000].
While both studies involved family
In this study, we found a
somewhat higher proportion of
participants supporting the
testing of minors than
previously reported among a
single BRCA1 kindred where
participants were presented
with a similar
closed-response question.
members from BRCA kindred, there
are differences between the studies that
may explain higher rates of support for
testing minors in our study. Participants
in our study presented for clinical
genetic testing and completed interviews after 2004. Thus, they may have
had different perceptions and incentives
regarding genetic testing than individuals presenting for research testing and
queried at the advent of genetic testing
for BRCA1/2 mutations. Nonetheless,
both studies suggest less support for the
testing of minors among individuals in
families with a known BRCA mutation
compared to prior studies evaluating
hypothetical situations in other at-risk
populations [Patenaude et al., 1996;
Benkendorf et al., 1997].
While recognizing the qualitative
nature of our study and the relatively
small number of men, similar to Hamann
et al. [2000], we found that men in
BRCA families appear more likely
to support the genetic testing of minors.
While recognizing the
qualitative nature of our study
and the relatively small number
of men, similar to Hamann
et al., we found that
men in BRCA families appear
more likely to support the
genetic testing of minors.
It is worth noting that 8 of 10 sons had
not received genetic counseling and,
thus, might have developed their opinions on the basis of relatively limited or
potentially biased information. It is also
possible, however, that men and women
may perceive genetic information or
genetic risk differently. In fact, other
studies have reported a greater interest in
genetic testing for cancer and other
hereditary conditions among men than
women [Andrykowski et al., 1997;
Sanderson et al., 2004; Barnoy, 2007].
It has been suggested that men have
lower levels of distress associated with
BRCA testing, perceive less personal
responsibility for transmitting a genetic
condition than women [Lodder et al.,
2001] and process information differently [Barnoy, 2007]. Thus, men may
develop different emotional and cognitive representations of genetically determined disease and genetic testing, and
may employ those representations differently in developing their opinions
regarding the potential benefits and
harms of undergoing testing for genetic
disease. Men and women may also
assume different cultural roles and
responsibilities specifically surrounding
genetic illness in families [Richards,
75
1996; d’Agincourt-Canning, 2001;
Koehly et al., 2003; Gaff et al., 2005].
Given that women are recognized
as carrying the responsibility for safeguarding the welfare of their children
[d’Agincourt-Canning, 2001], they may
develop different perceptions of the risks
and benefits of testing offspring. Similar
to other studies evaluating parental
opinions regarding enrolling offspring
in genetic susceptibility research [Geller
et al., 2000; Bernhardt et al., 2003],
mothers opposed to testing minors in
our study most frequently described
concerns about the potential negative
consequences of testing minors. It has
been argued that men and women may
both feel a strong imperative to care for
their offspring but that the manner in
which they perceive fulfilling this
imperative may differ [Hallowell et al.,
2005]. Thus, providing offspring access
to testing may be a means for men to
fulfill their perceived parental responsibility regarding their genetic risk. It is
also possible that any of the reported
gender differences, if real, are unique to
BRCA families, given the inherent
gender differences in the risks of developing cancer, the procedures used to
reduce cancer risk, and the cancers
experienced. Given our findings and
the previous work of others, we strongly
believe that further investigation of
gender differences in hereditary syndromes in which expression is similar
across gender could prove valuable in
informing genetic counseling procedures for adults and children of both
genders.
Differences of opinion between
parents and offspring were also prevalent
among participants in our studies.
Parents and offspring likely had different
information and experiences as they
developed their perceptions of genetic
disease. Understandably, in this sample,
fewer offspring than parents had participated in formal genetic counseling. Of
note, a greater proportion of offspring
reported higher levels of formal education and this could have influenced
opinions about genetic testing. It is
possible that younger participants may
have had more positive representations
of genetic information than their parents
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AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c
who presumably had undergone formal
education prior to the ‘‘genetic era.’’
Additionally, offspring’s lack of personal
illness experience or their developmental level at the time of exposure to their
parent’s cancer experience may have led
to differences in perceptions of the
potential positive and negative consequences of genetic testing for adultonset disease.
Thus, any observed differences
among parents’ and offsprings’, and
males’ and females’ perceptions of
genetically determined disease, genetic
testing and consequently, opinions
regarding the genetic testing of minors
are likely the product of complex interrelationships among differences in biopsychosocial factors both external and
internal to the individuals. Developing a
further understanding of the factors that
Developing a further
understanding of the factors that
mediate any gender and
generational differences in
families with a genetic
predisposition to illness could
inform genetic counseling
methods and policies
for subsequent generations, as
genetics becomes a more integral
component of health care.
mediate any gender and generational
differences in families with a genetic
predisposition to illness could inform
genetic counseling methods and policies
for subsequent generations, as genetics
becomes a more integral component of
health care.
While the data are limited, both our
study and at least one other suggest a
need for continued consideration of
alternative policies regarding the genetic
testing of minors for BRCA1/2. Given
that some individuals achieve social,
emotional and intellectual maturity well
in advance of their peers, it may be
permissible to allow genetic testing
of minors on a case-by-case basis. In
fact, a study of health care professionals
providing genetic services indicated that
some health care professions do choose
to provide genetic testing to minors for
adult-onset disorders for non-medical
reasons in specific cases [Duncan et al.,
2005]. Thus, providing genetic testing
of minors on a case-by-case basis appears
to be occurring. As well, for better or for
worse, such testing is likely to be
supported, and increasingly requested
by some consumers. There have been
criticisms against the current guidelines
and use of age-based criterion [Binedell
et al., 1996] as well as criticisms against
the use of autonomy and rights based
frameworks [Grochowski and Bach,
1994; Binedell et al., 1996; Hallowell
et al., 2003]. Alternative frameworks,
such as developmental decision-making
and family systems theories, might be
employed to develop models to study
and evaluate the cognitive, emotional
and social maturity of BRCA mutation
carriers’ offspring in the context of
decision-making for predictive genetic
testing of minors [Binedell et al., 1996;
McCabe, 1996; McConkie-Rosell and
Spiridigliozzi, 2004].
In considering alternative policies
and future investigations for the genetic
testing of minors, the results from our
study suggest several additional areas for
continued research that could impact the
opinions of potential consumers and
inform the development of future policies and protocols. Further information
regarding how young individuals conceptualize familial risk, genetic testing
and risk reduction, and how those
perceptions influence their health
behaviors could significantly influence
the acceptability of testing among
potential consumers. If future research
demonstrates limited negative psychological impact on offspring, parents in
hereditary cancer families may be more
supportive of testing minors for adultonset conditions. Alternatively, if longitudinal studies suggest that early testing
does not initiate and/or sustain risk
reduction behaviors, or that early behavior change does not impact the develop-
ARTICLE
ment of adult cancer, one would expect
less support for early genetic diagnosis.
As a descriptive and qualitative
study, this research was designed to be
hypothesis generating. Additionally,
participants in this study were predominately white, female and highly educated. Any associations or patterns
suggested by our work will need to be
further evaluated in larger studies of
broader populations that include additional assessments of constructs such as
participant perceptions of genetically
determined disease, genetic testing and
their consequences, and the factors and
experiences that shape the development
of these perceptions.
In conclusion, our results suggest
that opinions within and among BRCA
families regarding the appropriateness
of the genetic testing of minors varies,
with almost half of our interviewed
subjects potentially supporting the
genetic testing of minors. Despite this,
only a minority of participants would
consider testing their own child. If there
is indeed greater support for testing
among offspring in BRCA1/2 families,
there could be increasing requests for
early genetic diagnosis. Clearly, further
research is necessary to explore the risks
and benefits of providing predictive
genetic testing to minors for adult-onset
hereditary cancer syndromes. Specifically, there is a need to identify the
mediators of those risks and benefits and
to translate that knowledge into clinical
practice and public policy that will
ensure optimal psychosocial and medical
outcomes for all members of families in
which there is a risk of genetically
determined disease.
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