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Beyond the patient The broader impact of genetic discrimination among individuals at risk of Huntington disease.

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RESEARCH ARTICLE
Neuropsychiatric Genetics
Beyond the Patient: The Broader Impact of
Genetic Discrimination Among Individuals
at Risk of Huntington Disease
Yvonne Bombard,1,2,3† JoAnne Palin,1† Jan M. Friedman,4 Gerry Veenstra,5 Susan Creighton,4
Joan L. Bottorff,6 Michael R. Hayden1* and The Canadian Respond-HD Collaborative Research Group‡
1
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
2
Yale University, Department of Epidemiology and Public Health (Division of Health Policy and Administration), New Haven, Connecticut
3
Memorial Sloan Kettering Cancer Center, Center for Health Policy and Outcomes, New York, New York
Children’s & Women’s Hospital of British Columbia, Vancouver, British Columbia, Canada
4
5
Department of Sociology, University of British Columbia, Vancouver, British Columbia, Canada
6
Faculty of Health and Social Development, University of British Columbia Okanagan, Kelowna, British Columbia, Canada
Received 25 July 2011; Accepted 7 December 2011
We aimed to address gaps in current understanding of the
scope and impact of discrimination, by examining a cohort of
individuals at-risk for Huntington disease (HD), to describe
the prevalence of concern for oneself and one’s family in
multiple domains; strategies used to mitigate discrimination;
and the extent to which concerns relate to experiences. We
conducted a cross-sectional survey of 293 individuals at-risk
for HD (80% response rate); 167 respondents were genetically
tested and 66 were not. Fear of discrimination was widespread
(86%), particularly in the insurance, family and social settings.
Approximately half of concerned individuals experienced discrimination (40–62%, depending on genetic status). Concern
was associated with ‘‘keeping quiet’’ about one’s risk of HD or
‘‘taking action to avoid’’ discrimination. Importantly, concern
was highly distressing for some respondents (21% for oneself;
32% for relatives). Overall, concerned respondents with high
education levels, who discovered their family history at a younger
age, and those who were mutation-positive were more likely to
report experiences of discrimination than others who were
concerned. Concerns were rarely attributed to genetic test results
alone. Concern about genetic discrimination is frequent among
individuals at-risk of HD and spans many settings. It influences
behavioral patterns and can result in high levels of self-rated
distress, highlighting the need for practice and policy interventions. Ó 2012 Wiley Periodicals, Inc.
Key words: genetic discrimination; stigma; concern; self-rated
distress; Huntington disease; families
INTRODUCTION
Despite accelerating advances in genomic technology and individualized disease prevention, uptake rates for genetic testing still lag
[Hadley et al., 2003; Hayden and Bombard, 2005; Meiser et al.,
Ó 2012 Wiley Periodicals, Inc.
How to Cite this Article:
Bombard Y, Palin J, Friedman JM, Veenstra G,
Creighton S, Bottorff JL, Hayden MR, The
Canadian Respond-HD Collaborative
Research Group. 2012. Beyond the Patient:
The Broader Impact of Genetic
Discrimination Among Individuals at Risk of
Huntington Disease.
Am J Med Genet Part B 159B:217–226.
Additional Supporting Information may be found in the online version of
this article.
Disclosures: All authors report no conflicts of interest, as per AJOB policy.
†
Yvonne Bombard and JoAnne Palin contributed equally to this article.
‡
The members of the Canadian Respond-HD collaborative research group
are: Mark Guttman & Christine Giambattista, Centre for Movement
Disorders; Mark Ludman, Jill Murphy & Tina Babineau-Sturk, IWK
Health Centre; Patrick MacLeod & Jennifer Rice, Victoria General
Hospital; Wayne Martin & Marguerite Wieler, University of Alberta;
Wendy Meschino & Clare Gibbons, North York General Hospital; Lynn
Raymond & Joji Decolongon, University of British Columbia; Oksana
Suchowersky & Mary-Lou Klimek, University of Calgary.
Grant sponsor: Canadian Institutes of Health Research.
*Correspondence to:
Dr. Michael R. Hayden, MB, ChB, PhD, FRCP(C), FRSC, Department of
Medical Genetics, Centre for Molecular Medicine & Therapeutics, Child &
Family Research Institute, University of British Columbia, 950 West 28th
Avenue, Vancouver, BC, Canada V5Z 4H4. E-mail: mrh@cmmt.ubc.ca
Published online 9 January 2012 in Wiley Online Library
(wileyonlinelibrary.com).
DOI 10.1002/ajmg.b.32016
217
218
2006] There are numerous reasons that may account for this
including, high costs, uncertain clinical utility, limited health
care capacity, and lack of evidence for benefit. One reason that
has been the focus of considerable attention is the concern for the
possibility of genetic discrimination [Kinney et al., 2001; Hadley
et al., 2003; Warner et al., 2005; Lewis and Peterson, 2007; Robson
et al., 2010]. Genetic discrimination (GD) refers to the differential
treatment of asymptomatic individuals or their family members
based on real or presumed genotype [Billings et al., 1992].
Concerns about the possibility of discrimination have centered
on the misuse of genetic information to unfairly deny opportunities
based on real or presumed risks of becoming ill in the future.
Apprehension has typically focused on the insurance and employment sectors, where individuals have been particularly concerned
that insurers will use their genetic information to impose high
premiums or deny coverage [Bombard and Lemmens, 2010].
Besides the possibility of accessing available genetic test results,
individuals are also concerned that insurers may request that an
applicant undergo genetic testing in order to qualify for an insurance policy [Bombard et al., 2007]. Pressure to take a genetic test can
result in unsolicited information about one’s genetic risks that may
cause psychosocial burden and distress, and infringe on genetic
privacy, raising ethical concerns [Laurie, 1999; Andorno, 2004].
Huntington disease (HD) has always been a particular target of
social stigma and discrimination. From the ‘‘Dancing Mania’’ of the
Middle Ages to the ‘‘Witchcraft Disease’’ during the eugenics
movement, HD has been veiled under shrouds of secrecy for
decades [Wexler, 2010]. However, recent discourse has suggested
that stigma and the fear of discrimination have contributed to
inaccurate estimates of the true prevalence of HD, which has
adversely affected research and clinical supports for HD families
[Anonymous, 2010; Rawlins, 2010]. This represents a significant
ethical and social concern because without knowledge of its true
prevalence [Morrison et al., 2011], appropriate services and efficacy
of prophylactic treatments are unlikely to be established. However,
accurately estimating the prevalence of HD requires an appreciation of the nature and extent of stigma and fear of discrimination.
Studies of stigma and fear of discrimination have thus far focused
on small, symptomatic or genetically tested samples [Wingrove
et al., 1996; Lynch et al., 1997; Peterson et al., 2002; Armstrong et al.,
2003; Apse et al., 2004; Hall et al., 2005; Warner et al., 2005;
Bombard et al., 2008]. Thus, reports of stigma and fear of discrimination have been hampered by conflation of discrimination based
on symptoms and genetic discrimination, which is the differential
treatment of asymptomatic individuals or their family members
based on real or presumed genotype [Billings et al., 1992]. While
both forms of discrimination likely influence stigma and fears of
discrimination, it is fear of genetic discrimination that has caused
family members to conceal their family histories and genetic test
results, which has contributed to inaccurate estimates of the
prevalence of HD [Bombard et al., 2007; Anonymous, 2010]. There
is a paucity of evidence about the range of situations in which
individuals fear discrimination (such as health care, insurance,
employment, relationships, etc.), the prevalence of concern
(lifetime and recent), the level of distress caused by their concerns,
how their fears about discrimination relate to their experiences of it,
the range of situations in which individuals fear discrimination
AMERICAN JOURNAL OF MEDICAL GENETICS PART B
towards relatives, and the strategies they use to address ‘‘anticipated
discrimination’’ [Thornicroft et al., 2009].
The ramifications of concern for discrimination are particularly
troubling because they create barriers to services that may offer
important therapeutic or management opportunities. Understanding the nature and extent of these concerns is important to cultivate
open communication between patients and their health care providers, and develop appropriate interventions to reduce stigma and
ascertain true disease prevalence, which will ultimately serve to
benefit public health. We conducted a study among individuals atrisk for HD to examine the nature and prevalence of concern for
discrimination towards oneself and one’s family members, to
describe strategies individuals use to mitigate discrimination, to
explore how concerns for discrimination relate to experiences of
discrimination, and to identify factors associated with experiences
and concerns of genetic discrimination.
METHODS
Study Design and Sample
We conducted a self-administered survey at seven Canadian clinics,
targeting 300 asymptomatic adults (Unified HD Rating Scale score
(UHDRS) < 2 [Bombard et al., 2009]) who had a family history of
HD. We received approval from relevant ethics boards and patients’
consent was received prior to questionnaire completion. The survey
methods and questionnaire design have been described elsewhere
[Bombard et al., 2009]; we developed the content using qualitative
studies [Bombard et al., 2007, 2008; Penziner et al., 2008] and
validated discrimination instruments [Krieger et al., 2005; Taylor
et al., 2008]. The definition of discrimination used in our study is
consistent with validated definitions of ‘‘discrimination’’ [Krieger
et al., 1998, 2005; Kessler et al., 1999; Borrell et al., 2007], and of
‘‘genetic discrimination’’ specifically [Taylor et al., 2008], and based
on definitions developed through preceding qualitative research
[Bombard et al., 2008].
Measures
We asked respondents when they first became aware that HD was in
their family and when they had been genetically tested. We verified
their genetic status through medical records. The most common
interpretation of discrimination provided by participants in a
preceding qualitative study was ‘‘being unfairly prevented from
doing something, or being treated unfairly’’ [Bombard et al., 2008].
This characterization was used in the survey and is consistent with
established definitions of discrimination [Krieger et al., 2005;
Borrell et al., 2007; Taylor et al., 2008].
To assess concern about discrimination, we asked if respondents
ever worried about being treated unfairly because of their family
history and/or genetic test result in each of 23 possible situations. If
they responded ‘‘yes’’ to any of the situations, respondents were
classified as having had concern for themselves, as depicted in
Supplementary Appendix A. To facilitate analyses with adequate
sample sizes, we grouped the 23 situations into six settings (Table I).
Similarly, we asked respondents if they had ever worried about
relatives experiencing discrimination in those situations. Finally, we
asked if respondents had ever experienced genetic discrimination.
BOMBARD ET AL.
219
TABLE I. Concerns About Genetic Discrimination
a
Setting/Item
Overall
Insurance
By a life insurance company or agent
By a long-term disability company or agent
By a mortgage company or agent
Family
When making choices about having children
By your spouse
By a member of your family
Social
When establishing a relationship
By your community
By a boy/girlfriend
By a friend
At school
By your religious organization
Employment
At work
When getting hired or getting a job
Health care
When getting medical care
By other health care professional(s)
By your doctor
By a genetic counseling service
Public sector
By an adoption agency
In the law courts
By a blood bank
When getting access or custody to your children
By the Canadian Forces
Self b
n (%)
175 (75.1)
Familyb
n (%)
171 (73.4)
141 (60.5)
124 (53.2)
58 (24.9)
117 (50.2)
115 (49.4)
76 (32.6)
84 (36.1)
40 (17.2)
32 (13.7)
95 (40.8)
33 (14.2)
37 (15.9)
88 (37.8)
42 (18.0)
37 (15.9)
36 (15.5)
11 (4.7)
4 (1.7)
106 (45.5)
49 (21.0)
59 (25.3)
46 (19.7)
22 (9.4)
11 (4.7)
72 (30.9)
65 (27.9)
77 (33.0)
81 (34.8)
46 (19.7)
25 (10.7)
16 (6.9)
9 (3.9)
60 (25.8)
36 (15.5)
25 (10.7)
14 (6.0)
26 (11.2)
24 (10.3)
24 (10.3)
19 (8.2)
7 (3.0)
20 (8.6)
37 (15.9)
23 (9.9)
34 (14.6)
14 (6.0)
a
Respondents selected all that applied.
Number and percentage of respondents reporting ‘‘yes,’’ they have been concerned about discrimination as a result of either or both their family history and genetic test result.
b
We also asked respondents to rate the level of concern and the
degree of distress their concern caused them on scales from 1 to 5,
regarding their family history and genetic test result. Similarly, we
asked respondents to rate their levels of distress and concern about
discrimination for family members, due to the family history or the
respondent’s genetic test result.
We asked respondents who reported that they had ever worried
about genetic discrimination how much they worried about being
treated unfairly because of their family history or genetic test result
in the past year: ‘‘rarely or never,’’ ‘‘some of the time,’’ or ‘‘most of
the time.’’ We classified those who responded ‘‘some of the time’’ or
‘‘most of the time’’ as having been concerned in the past year. We
also asked how much they worried about genetic discrimination
towards family members in the past year, due to the family history
or the family members’ genetic test results (Supplementary
Appendix A).
Based on preceding qualitative research in this sample and
strategies developed in established discrimination surveys [Krieger
t al., 2005; Bombard et al., 2007], we asked respondents to indicate
which general strategies they used when faced with the possibility of
discrimination.
Statistical Analysis
We used chi-square and Fisher’s exact tests for comparisons
by group and by setting, as applicable. In order to assess factors
associated with ‘‘concern only’’ versus ‘‘concern and experience,’’
we evaluated demographic characteristics (age, sex, marital
status, having children or not, highest level of education, income,
employment status, urban/rural residence) and genetic information (age when family history of HD was learned, years since
learning of the family history of HD, genetic test status) in
univariate logistic regression analyses that included all
settings combined. We added all variables with P < 0.10 into
multivariable models for all settings combined and by setting.
The family/social settings, and ‘‘other’’ (i.e., employment, health
care, public sector) settings, were grouped due to small sample
sizes. We dichotomized the age of learning one’s family history
220
AMERICAN JOURNAL OF MEDICAL GENETICS PART B
at the median (25 years) for ease of interpretation and because
the results were similar whether this age was entered in categorical
or continuous form. We used SPSS 18.0.0 (SPSS Inc., Chicago, IL).
RESULTS
Study Participants
Of 299 individuals who were invited to participate in the survey, 239
(79.9%) responded, and six were excluded because they had
UHDRS scores >2 before completing the survey questionnaire.
There were no significant differences in the characteristics of the
respondents across test status categories nor between responders
and non-responders with respect to being tested or not (P ¼ 0.334),
by positive or negative mutation status (P ¼ 0.365), age (P ¼ 0.077),
or gender (P ¼ 0.206). While the characteristics of participants in
our sample are similar to those of participants in other HD studies,
our study sample appears more educated and older [Wiggins et al.,
1992; Almqvist et al., 2003]. The characteristics of the sample have
been described elsewhere [Bombard et al., 2009, 2010].
Prevalence of Concern About Genetic
Discrimination
Eighty-six percent (86%) of respondents reported being concerned
about genetic discrimination towards themselves or their family
members at some point in their lifetime. Three-quarters (n ¼ 175)
had concern for themselves, and 73% (n ¼ 171) had concerns about
family members (Table I). Most (63%) had concerns for both self
and family (Fig. 1).
Insurance *
18
10
45
14
18
Family
13
Social †
30
21
32
15
19
23
Employment
12
12
Health care
9
Public sector
Self (only)
Family (only)
Both (self AND family)
17
8
Overall concern about GD -- past
year †
0
Reasons for Concern (Family History and/or
Genetic Test Result)
Few respondents attributed their concern to their genetic test result
alone. Of the 125 tested respondents who had ever had concern, 74
(59.2%) attributed their concern to both their family history and
genetic test result, while 48 (38.4%) ascribed their concern to their
family history only, and three (2.4%) reported that they had ever
had concern about being treated unfairly due to their genetic test
result alone (P < 0.001). Of the 65 respondents with the HD
mutation who reported that they had ever had concern for themselves, 80.0% attributed their concern to both their family history
and mutation status, followed by their family history only (18.5%),
or their mutation status only (1.5%; P < 0.001).
The 127 tested respondents who had concern for family members
mainly attributed their concern to their family history only (59.8%),
followed by their family history and genetic test result (37.8%), and
2.4% to their genetic test result alone (P < 0.001). Mutation positive
respondents attributed their concern for family members to their
family history only (49.2%), or their family history and mutationstatus (47.7%), followed by their mutation status alone (3.1%;
P < 0.005).
15
14
12
11
Overall concern about GD -- ever
Concern by setting. The prevalence of concern for family was
8% higher for family than self in the social setting (13% for self
only vs. 21% for family only), and 8% lower for family than self in
the insurance setting (18% vs. 10%) (Fig. 1).
Concern in the past year. There were 138 respondents who
reported concern for either themselves or family members ‘‘some’’
or ‘‘most of the time’’ in the past year (of whom 26% (n ¼ 36) felt
concern ‘‘most of the time’’ in the past year). Within the past year,
the prevalence of concern for family was 19% higher than concern
for themselves: 27% had concern for family (only), 8% had concern
for themselves (only), and 24% for both family and themselves
(Fig. 1).
Concern and genetic test status. Respondents who tested positive for the HD mutation were concerned about discrimination in
the employment setting, and worried about discrimination in the
past year, to a larger extent than other respondents. Tested respondents reported concerns for family members in the family and social
settings to a larger extent than non-tested respondents (Table II).
Level of Concern and Distress
63
27
24
20
40
60
80
100
% of respondents
FIG. 1. Concern for self only, family only, or both (self AND family),
by setting and overall (n ¼ 233). *The prevalence of concern for
self (only) was significantly greater than concern for family
(only). †The prevalence of concern for family (only) was
significantly greater than concern for self (only). (Statistically
significant differences between self (only) versus family (only)
were assessed with McNemar’s test (P < 0.05)). [Color figure
can be seen in the online version of this article, available at
http://wileyonlinelibrary.com/journal/ajmgb]
Respondents with a self-rated level of concern or distress of 4 or
higher were categorized as having high levels of distress. Among the
concerned respondents who rated their level of concern, 24.9%
(n ¼ 42/169) had high concern for self, and 34.1% (n ¼ 58/170)
reported high concern for family. The level of concern was not
significantly associated with genetic test status, either for self
(P ¼ 0.088) or family (P ¼ 0.642). Of the concerned respondents
who rated their level of distress, 21.2% (n ¼ 36/170) had high levels
of distress for self, and 32.0% (n ¼ 54/169) reported high distress
due to concern about genetic discrimination toward their family
members. Distress for self was rated higher by mutation-positive
respondents than mutation-negative respondents or those who
were not tested [n ¼ 20 (30.8%) vs. n ¼ 6 (13.0%) vs. n ¼ 10
BOMBARD ET AL.
221
TABLE II. Concern About Genetic Discrimination by Genetic Test Status (n ¼ 233)
Concern by setting (lifetime)
Insurance
Self
Family
Family
Self
Family
Social
Self
Family
Employment
Self
Family
Health care
Self
Family
Public sector
Self
Family
Overall concern
Concern about GD (lifetime)
Self
Family
Concern about GD (past year)
Self
Family
TOTAL
Total sample
(n ¼ 233)
n (%)a
Not tested
(n ¼ 66)
n (%)a
Mutation-negative
(n ¼ 84)
n (%)a
Mutation-positive
(n ¼ 83)
n (%)a
P-valueb
145 (62.2)
127 (54.5)
41 (62.1)
33 (50.0)
48 (57.1)
44 (52.4)
56 (67.5)
50 (60.2)
0.277
0.408
102 (43.8)
110 (47.2)
23 (34.9)
20 (30.3)
42 (50.0)
45 (53.6)
37 (44.6)
45 (54.2)
0.175
0.005
105 (45.1)
124 (53.2)
24 (36.4)
28 (42.4)
42 (50.0)
54 (64.3)
39 (47.0)
42 (50.6)
0.227
0.024
88 (37.8)
97 (41.6)
19 (28.8)
21 (31.8)
25 (29.8)
37 (44.0)
44 (53.0)
39 (47.0)
0.002
0.150
67 (28.8)
67 (28.8)
17 (25.8)
16 (24.2)
19 (22.6)
22 (26.2)
31 (37.4)
29 (34.9)
0.090
0.290
52 (22.3)
67 (28.8)
10 (15.2)
16 (24.2)
17 (20.2)
25 (29.8)
25 (30.1)
26 (31.3)
0.079
0.617
175 (75.1)
171 (73.4)
50 (75.8)
44 (66.7)
60 (71.4)
62 (73.8)
65 (78.3)
65 (78.3)
0.583
0.277
75 (32.2)
120 (51.5)
233 (100.0)
15 (22.7)
29 (43.9)
66 (100.0)
21 (25.0)
49 (58.3)
84 (100.0)
39 (47.0)
42 (50.6)
83 (100.0)
0.001
0.211
a
Percentages are calculated by genetic test status.
Pearson’s chi-square. Bold font indicates statistical significance (P < 0.05).
b
(16.9%), respectively; P ¼ 0.049]. Importantly, 83.3% of respondents who reported high levels of self-rated distress due to their
concern also reported that they had experienced discrimination.
Self-rated distress for family was not significantly associated with
the respondents’ genetic status (P ¼ 0.446).
Concerns and Experiences of Discrimination
Of the 175 respondents who reported concern in any setting, 49.7%
(87/175) also reported experiences of genetic discrimination, which
included 40.0% of those who were not tested (20/50), 45.0% of the
mutation-negative group (27/60), and 61.5% of the mutationpositive group (40/65). Only 3% of the total sample reported
experiencing discrimination without having also reported concern
about discrimination (6/233).
they had completed university or teachers’ college (OR ¼ 2.64: 95%
CI: 1.26–5.54; P ¼ 0.010), were younger than age 25 when they
learned of their family history (OR ¼ 4.01; 95% CI: 1.87–8.61;
P < 0.001) or were mutation-positive for HD (OR ¼ 3.13; 95% CI:
1.30–7.53; P ¼ 0.011) in the model that combined all settings
(Table III). Stratified by setting, learning about a family history
at a younger age was associated with having ‘‘concerns and
experiences’’ of discrimination in the insurance settings
(OR ¼ 4.26; 95% CI: 1.87–9.69; P ¼ 0.001) or the family/social
setting (OR ¼ 4.12; 95% CI: 1.47–11.59; P ¼ 0.007). Mutationpositive status was associated with having ‘‘concerns and
experiences’’ of discrimination in the family/social setting
(OR ¼ 7.47; 95% CI: 2.53–22.07; P < 0.001). None of the variables
attained statistical significance in the model of ‘‘Other settings,’’
which combined the employment, health care, and public sector
settings.
Factors Associated With Experiences of
Discrimination Among Concerned Respondents
Strategies Used to avoid Discrimination
Overall, respondents were more likely to report both ‘‘concern and
experiences’’ of genetic discrimination versus ‘‘concern only’’ if
Approximately half of respondents employed the following strategies to mitigate discrimination based on their family history:
0.469
0.111
0.26–3.43
0.58–4.83
0.95
1.67
118
0.718
<0.001
0.37–4.28
2.53–22.07
1.25
7.47
Respondents could report concerns and/or experiences in more than one setting. P-values < 0.05 are highlighted in bold font.
a
‘‘Other settings’’ include employment, health care and government.
b
Reference category.
0.26–1.86
0.84–5.34
0.70
2.12
145
0.974
0.011
0.99
3.13
175
0.40–2.40
1.30–7.53
0.58–3.65
1.45
109
0.007
1.47–11.59
4.12
0.939
0.341
133
0.001
1.87–9.69
136
4.01
163
1.87–8.61
<0.001
4.26
0.27–1.74
0.69
115
0.171
0.76–4.67
1.89
0.426
126
0.233
0.73–3.54
142
2.64
170
1.26–5.54
0.010
1.61
0.58–4.45
1.61
118
0.504
0.53–3.65
1.39
0.85–5.00
2.07
145
0.050
1.00–5.11
2.26
95% CI
OR
n
P-value
95% CI
OR
95% CI
n
OR
Family/social settings (n ¼ 133)
P-value
95% CI
OR
n
174
Marital status
Married
Not marriedb
Highest level of education
Completed university/teachers college
Have not completed university/teachers collegeb
Age when learned of family history of HD
Less than age 25
25 years old or olderb
Genetic test status
Have not been tested for HD
Mutation-positive
Mutation-negativeb
Other settingsa
(n ¼ 118)
Insurance setting
(n ¼ 145)
Any setting
(n ¼ 175)
TABLE III. Factors Associated With ‘‘Concerns and Experiences’’ of Genetic Discrimination (vs. ‘‘Concern Only’’)
0.428
128
0.107
DISCUSSION
0.360
132
educating the public about HD (57.8%; n ¼ 130/225), ‘‘trying to
take action to avoid’’ discrimination (54.4%; n ¼ 118/217), and
keeping quiet about their family history (50.9%; n ¼ 115/226). Very
similar proportions employed such strategies for discrimination
due to their genetic test result.
Concern about discrimination was significantly associated with
taking action to avoid discrimination and with keeping quiet about
one’s genetic risk. High levels of distress due to concern about
discrimination were associated with keeping quiet about one’s
family history and taking action to avoid discrimination due to
one’s genetic test result (Table IV).
In the insurance setting, concern about discrimination was
associated with the following strategies in up to one-third of
respondents: avoiding applying for insurance, giving up before
applying for insurance, and thinking about concealing HD status
from an insurance company. Ten percent or less of respondents
reported that they kept information out of their medical file or from
relatives due their family history or genetic test result. Experiences of
insurance discrimination were associated with avoiding applying
for insurance and giving up before applying due to one’s family
history (Table V).
P-value
n
AMERICAN JOURNAL OF MEDICAL GENETICS PART B
P-value
222
Concern for genetic discrimination was frequent in our sample:
86% of respondents reported concerns for themselves or their
relatives, largely in the insurance, family, and social settings. Concerns were not necessarily accompanied by experiences of discrimination: approximately 50% of the concerned individuals reported
that they experienced discrimination. Overall, concerned respondents who completed university or teachers’ college, who learned
about their family history of HD at a younger age, and who
were mutation-positive for HD were more likely to experience
discrimination than others who were concerned. Concerns for
discrimination were rarely attributed to genetic test results alone
but prompted respondents to employ a range of strategies to
mitigate discrimination. Importantly, some respondents reported
high levels of self-rated distress due to concern about discrimination towards family (32%) or themselves (21%).
It is notable that the prevalence of overall concern for oneself is
almost twice as high as the prevalence of self-reported experiences
of discrimination within this sample (75.1% (175/233) vs. 39.9%
(93/233) [Bombard et al., 2009]). These findings are consistent with
other research that suggests that concerns for discrimination exceed
reported experiences [Wingrove et al., 1996; Peterson et al., 2002;
Armstrong et al., 2003; Apse et al., 2004; Erwin et al., 2010].
Generally, the settings in which concern is most prevalent in this
sample reflects settings in which experiences of discrimination are
most frequent [Bombard et al., 2009]: in insurance, family and
social settings, and to a lesser extent in employment, public and
health care settings. It is also important to highlight that the family
and social settings emerged as important sources of concern for
oneself and one’s relatives and of experiences of discrimination
(particularly when making reproductive choices and establishing
relationships). The prevalence of these concerns and experiences in
interpersonal contexts (i.e., family and social settings) underscore
the inter- and intra-generational impacts of genetic disorders.
0.094
0.111
0.034
0.399
0.002
0.003
0.016
0.595
n (%)
74
45 (48.9)
29 (44.6)
73
43 (57.3)
30 (38.0)
73
46 (58.2)
27 (34.6)
74
46 (59.7)
28 (35.0)
P-value
n (%)
19
13 (29.5)
6 (20.5)
19
15 (35.7)
4 (13.3)
19
15 (32.6)
4 (15.9)
19
15 (32.6)
4 (14.9)
P-value
223
Respondents could report more than one strategy. Bold font indicates statistical significance.
a
Results did not significantly vary if respondents had experiences of discrimination or not.
b
Denominator based on number who had concern, excluding missing cases who did not provide information about their level of distress.
—
—
—
—
—
—
—
0.047
<0.001
—
0.020
0.109
0.083
0.090
n (%)
167
102 (78.5)
65 (68.4)
162
100 (84.7)
62 (62.6)
168
92 (80.0)
76 (68.5)
Talk to others about HD in order to educate the public
Used this strategy
Did not use this strategy
Try to take action to avoid the possible situation
Used this strategy
Did not use this strategy
Keep quiet about your family history of HD
Used this strategy
Did not use this strategy
Keep quiet about your genetic test result
Used this strategy
Did not use this strategy
Total (n)
225
130
95
217
118
99
226
115
111
P-value
n (%)
28
13 (13.0)
15 (23.4)
28
21 (21.4)
7 (11.5)
28
21 (23.1)
7 (9.5)
P-value
Total (n)
157
92
65
154
75
79
157
79
78
157
77
80
Had concerna
Had distressb
Had concerna
Related to family history
TABLE IV. Strategies Used to Avoid Genetic Discrimination (n ¼ 233)
Related to genetic test result
Had distressb
BOMBARD ET AL.
Thus, in addition to focusing on protections from institutional
discrimination (such as insurance and employment), it would be
useful to develop educational or clinical interventions to address the
ways in which genetic information may influence interpersonal
relationships.
The need for educational or clinical interventions may be further
reinforced by the association between concern about discrimination and high levels of distress. Not only was concern about
discrimination highly distressing for some respondents, but a
high proportion of respondents who reported high levels of selfrated distress due to their concern also reported that they had
experienced discrimination (83.3%). Although psychological distress is a recognized consequence of genetic testing [Broadstock
et al., 2000; Almqvist et al., 2003; Decruyenaere et al., 2003; Hayden
and Bombard, 2005] and high levels of self-rated distress have been
associated with experiences of discrimination [Bombard et al.,
2009], distress has not previously been linked to concerns for
discrimination. Our findings suggest that there is a compounding
effect between concern and experiences of discrimination that
results in high levels of self-rated distress in some people. Further,
the strategies related to keeping quiet about the family history and
taking action to mitigate discrimination based on genetic test
results were significantly associated with high self-rated distress.
Notably, 75% of those who reported high levels of distress also
reported low satisfaction with the strategies used to prevent anticipated discrimination, compared to 50% of those who did not report
high levels of distress (P < 0.017, post-hoc analysis). This relationship between distress and satisfaction was based on concern related
to their family history, and did not vary significantly by genetic test
results. This points to the importance of the family history as a
prominent factor in the concerns and distress about discrimination,
and leads to speculation about the effectiveness of family coping
strategies and family dynamics. These findings echo previous
calls for interventions to cope with fears of discrimination, particularly interventions aimed at increasing individuals’ self-efficacy
and reduce distress [Chen et al., 2009; Olabi, 2009; Thornicroft
et al., 2009].
We found that concerns were rarely attributed to genetic test
results alone but were attributed to both family history and genetic
test results, or to family history alone. Family history was reported
as underlying most discrimination experiences by this sample
[Bombard et al., 2009]. These results underscore the importance
of the family history in discrimination. While discrimination may
be more likely among those who receive mutation-positive results,
all asymptomatic individuals are at risk for discrimination because
of their family history. Ultimately, having a family history of HD
makes individuals vulnerable to the risk of genetic discrimination.
Recognition of this fact may help to allay patients’ concerns about
pursing genetic testing and potentially increase their engagement
with clinical care, especially since stigma and the fear of discrimination are thought to have resulted in inaccurate estimates of the
true prevalence of HD, adversely affecting research and clinical
supports for HD families [Anonymous, 2010; Rawlins, 2010].
Finally, we identified factors that distinguished individuals who
reported both concerns and experiences of discrimination from
those who only reported concerns. Those who completed university
or teachers’ college, who learned about their family history of HD at
Bold font indicates statistical significance.
a
Had concern about genetic discrimination in the insurance setting.
b
Denominator is number of individuals reporting concern.
c
Pearson’s chi-square test, unless otherwise noted.
d
Fisher’s exact test.
Have avoided applying due to fear of disclosing status
Used this strategy
Did not use this strategy
Have ever ‘‘given up’’ before applying
Used this strategy
Did not use this strategy
Have thought about concealing status from insurance company
Used this strategy
Did not use this strategy
Have kept information out of medical file
Used this strategy
Did not use this strategy
Have concealed status from relatives due to insurance concerns for others
Used this strategy
Did not use this strategy
Total (n)
222
64
158
221
58
163
226
73
153
225
22
203
226
12
214
9 (75.0)
129 (60.3)
n (%)
137
55 (85.9)
82 (51.9)
136 (61.5)
49 (84.5)
87 (53.4)
139
58 (79.5)
81 (52.9)
138
18 (81.8)
120 (59.1)
0.376d
0.038
<0.001
<0.001
<0.001
P-valuec
n (%)
58
29 (52.7)
29 (35.4)
58
30 (61.2)
28 (32.2)
58
28 (48.3)
30 (37.0)
58
11 (61.1)
47 (39.2)
58
4 (44.4)
54 (41.9)
1.000d
0.079
0.185
0.001
0.044
P-valuec
Total (n)
151
37
114
150
33
117
157
42
115
157
16
141
159
11
148
5 (45.5)
53 (35.8)
n (%)
56
28 (75.7)
28 (24.6)
55
26 (78.8)
29 (24.8)
57
27 (64.3)
30 (26.1)
58
11 (68.8)
47 (33.3)
0.531d
0.005
<0.001
<0.001
<0.001
P-valuec
n (%)
28
15 (53.6)
13 (46.4)
28
15 (57.7)
13 (44.8)
28
15 (55.6)
13 (43.3)
29
7 (63.6)
22 (46.8)
29
2 (40.0)
27 (50.9)
1.000d
0.315
0.357
0.341
0.593
P-valuec
Had experienceb
Had concerna
Had concerna
Had experienceb
Related to genetic test result
Related to family history
TABLE V. Strategies Used by Respondents to Avoid Insurance Discrimination (n ¼ 233)
224
AMERICAN JOURNAL OF MEDICAL GENETICS PART B
BOMBARD ET AL.
a younger age, and who were mutation-positive for HD were more
likely to report discrimination experiences than others who were
concerned. While we are not aware of other studies that explore
predictors of concern and experiences of discrimination, a few
empirical studies have explored predictors of concern for genetic
discrimination [Lehmann et al., 2002; Hall et al., 2005]. Despite the
wide-range of factors explored, education has consistently emerged
as a significant predictor of concern for discrimination. Some
studies have found that higher levels of education were associated
with concern for discrimination [Lehmann et al., 2002; Baruch and
Hudson, 2008], while another found a nonlinear relationship [Hall
et al., 2005]. Our study suggests that higher education (i.e., university completion) is associated with experiences of discrimination
among those who have had concern for discrimination.
There are several caveats in the interpretation of our findings.
Participants may reflect a highly educated and self-selected group
who may be emotionally robust and may have been better able to
recognize and articulate their experiences of discrimination than
those with less education or those in advanced stages of HD.
Further, we do not know at what point respondents became
concerned about particular situations, how long they had been
concerned, if they were concerned at the time of the study or because
of participating in the study, or the temporal relationships between
concerns and experiences or strategies and distress. Further, our
distress scale was not intended for clinical assessment and levels of
distress may vary over time. Attributions to family history or genetic
test results were based on patients’ reports and were not verified. We
also relied on self-reported experiences of discrimination rather
than confirmed episodes. However, cases of consumer-reported
experiences of genetic discrimination have been verified by others
[Barlow-Stewart et al., 2009]. The small sample sizes for some
settings may have affected the precision of our estimates and our
ability to detect statistically significant relationships. Finally, this
study may not be generalizable to jurisdictions without socialized
health care systems or to other disease populations. Comparative
and cross-cultural studies on discrimination in other neurodegenerative, hereditary cancer, and cardiogenetic populations in different jurisdictions are thus warranted.
Despite these limitations, our study addresses several gaps
identified in previous stigma and discrimination research, including the impact of family history, education, age at which one learned
of the family history, and urban/rural status [Chen et al., 2009;
Olabi, 2009]. Moreover, the sample included only symptom-free
individuals, so the impact of genetic risk (rather than symptom
presentation) could be assessed.
Concern for discrimination is nearly universal among individuals at risk of HD, and has effects on behavioral patterns and selfrated distress. Our findings illuminate the nature of these concerns
and characterize concerned individuals whose worries are coupled
with experiences of discrimination. These results may also be used
to develop tools to mitigate the threat of discrimination and its
effects.
225
Canadian Institutes of Health Research (CIHR) was awarded to
Michael Hayden and Joan Bottorff. Yvonne Bombard was supported by doctoral awards from the CIHR and the Michael Smith
Foundation for Health Research/Child and Family Research Institute during the conduct of this work; by postdoctoral fellowships
from the CIHR, and CIHR Strategic Training Fellowships
of ‘‘Public Health Policy’’ and ‘‘Health Care, Technology and
Place’’ during the writing of this manuscript; and, is currently
funded by a postdoctoral fellowship from the CIHR. Contributors:
The following are the members of the Canadian Respond-HD
collaborative research group, who participated in the recruitment
and administration of the survey: Mark Guttman & Christine
Giambattista, Centre for Movement Disorders, Markham, Ontario;
Mark Ludman, Jill Murphy & Tina Babineau-Sturk, IWK Health
Centre, Halifax, Nova Scotia; Patrick MacLeod & Jennifer Rice,
Victoria General Hospital, Victoria, British Columbia; Wayne
Martin & Marguerite Wieler, University of Alberta, Edmonton,
Alberta; Wendy Meschino & Clare Gibbons, North York General
Hospital, Toronto, Ontario; Lynn Raymond & Joji Decolongon,
University of British Columbia, Vancouver, British Columbia; and,
Oksana Suchowersky & Mary-Lou Klimek, University of Calgary,
Calgary, Alberta.
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