Curr Psychol (2009) 28:284–301

DOI 10.1007/s12144-009-9061-2

Coping with Genetic Risk: Living

with Huntington Disease (HD)

Holly Etchegary

Published online: 25 August 2009

# Springer Science + Business Media, LLC 2009

Abstract Rapid developments in genetics suggest that more and more people will
be identified ‘at risk’ for common illnesses. Genetic discoveries have the potential to
improve disease outcomes, but they also highlight gaps in our knowledge about
patient-level factors such as how individuals respond to a genetic threat to their
health and how they cope with that threat. There have been few empirical
applications of psychological theories to understand genetic testing decisions and
outcomes, although there have been calls for this approach. Drawing upon
interviews with individuals at risk for (or with) Huntington disease (HD), this study
adopts a stress and coping framework to explore how people cope with genetic
illness in the family. Qualitative data analyses revealed that coping strategies were
dynamic and varied but could be classified as 1) primary control coping, 2)
secondary control coping and 3) social comparison strategies. Important distinctions
were observed in coping strategies among those who had undergone genetic testing
and received a test result, those who remained at risk, and those affected with HD,
along with their caregivers. Implications for clinical practice and genetics health
services are discussed.

Keywords Genetic testing . Coping strategies . Stress and coping .

Huntington disease (HD)

Introduction

The sequencing of the human genome revealed the important hereditary influences
of several common diseases (for example, diabetes, cancer, heart disease),

H. Etchegary (*)
Clinical Research Scientist, Eastern Health and Clinical Epidemiology, Faculty of Medicine, Health
Sciences Centre, Memorial University, Rm H1761, Level 1, St. John’s, NL A1B 3V6, Canada
e-mail: holly.etchegary@med.mun.ca
Curr Psychol (2009) 28:284–301 285

identifying larger numbers of people “at risk.” The extension of genetic risk to larger
portions of society presents many societal and health system questions (Khoury
2003). It also highlights gaps in our knowledge about individual-level factors such
as how people respond to a genetic threat to their health and how they cope with
genetic risk (Gooding et al. 2006).
Several constructs from social psychological theory (for example, attitudes,
perceived behavioral control, perceived susceptibility) have emerged as important
predictors of genetic testing interest, uptake and outcomes. However, there have
been few systematic applications of psychological theories to understand genetic
testing decisions and outcomes, though there have been calls for this approach. As
Gooding et al. (2006) noted, “Understanding components of this decision-making
process and its outcomes helps to ensure informed choices about testing and “good”
decision outcomes by identifying opportunities for effective interventions” (p. 1881).
A stress and coping framework may be well suited in this research area, partly
because the framework identifies appraisals and coping strategies that can be targets
for intervention (for example, perceptions of control over illness). Further, the stress
and coping process is thought to be a dynamic one, such that outcomes of coping
responses are themselves reappraised and fed back into the stress and coping cycle
(Lazarus and Folkman 1984; Folkman and Greer 2000). Living with genetic risk is
also thought to be a dynamic process, having waxing and waning prominence over
the life-course (Cox and McKellin 1999). For example, the receipt of one’s own test
result or being informed of a relative’s result would likely modify individual risk
perceptions, as well as affective and coping responses (Baum et al. 1997; Cox and
McKellin 1999).
A stress and coping framework is also thought to be appropriate to the study of
genetic risk since it includes both a cognitive and affective appraisal process, and
variables representing each of these consistently predict genetic testing interest,
uptake and outcomes. For example, greater perceived disease susceptibility and
disease worry motivate interest in and uptake of testing, while pre-test emotional
state appears to predict psychological outcomes post-test (Gooding et al. 2006).
Most families and individuals affected by a genetic condition cope well; however,
about a third do not adjust well and could benefit from provider intervention
(Biesecker and Erby 2008). This paper presents the coping strategies of people who
are at risk for Huntington disease (HD), have tested positive for the mutation, or are
clinically affected with the illness and their caregivers. The data are drawn from a
larger qualitative interview study in Eastern Canada.

Living with the Risk of Huntington Disease (HD)

HD is a neurodegenerative, and ultimately fatal, genetic illness marked by cognitive,

affective and motor impairments and an autosomal dominant transmission pattern.
This means that each child of a parent with HD has a 50:50 chance of inheriting the
mutation and is identified as at risk for the disorder.
With few exceptions, carrying the mutation guarantees developing the illness at
some point throughout the life course. HD normally manifests around mid-life (30–
45 years), although it can appear in young children or in later adulthood. Regardless
of the age of onset, HD is a progressive, complicated and fatal illness. Complications
286 Curr Psychol (2009) 28:284–301

from the disease (for example, infection, aspiration, heart failure) usually cause death
10–30 years after disease onset. At present, there is no cure for HD and only limited
options for treatment of symptoms (such as drug therapy for choreic movements).
Worldwide, only 10–20% of at risk individuals have chosen to be tested (Evers-
Kiebooms and Decruyenaere 1998), and the psychological impact of testing for HD
has been well studied. Most studies used validated psychological instruments to
assess psychological morbidity prior, and subsequent to, test disclosure, and the
research was undertaken as part of predictive testing protocols in specialized
genetics centres (Broadstock et al. 2000; van’t Spijker and ten Kroode 1997).
van’t Spijker and ten Kroode (1997) observed short-term emotional reactions such as
sadness, anxiety or anger in mutation carriers, returning to normal levels one year post-
test. Increased feelings of hopelessness were also observed, with lower scores recorded
in non-carriers (Tibben et al. 1994). Three years post-test, there were no differences in
the number of intrusive or avoidant thoughts about HD or in levels of hopelessness
between mutation carriers and non-carriers (Tibben et al. 1997). Some research also
observed that noncarriers did not always experience relief. Instead, some experienced
survivor guilt and had difficulty adjusting to a new identity (Sobel and Cowan 2000).
Nonetheless, short-term outcomes of genetic testing for HD are fairly good.
Catastrophic problems, such as suicide, have rarely materialized. However, longitudinal
studies suggest that research to date could underestimate the real impact of a positive test
result. For example, Timman et al. (2004) found increasingly higher levels of
hopelessness in mutation carriers over the study’s seven to ten-year follow-up. Recent
research also revealed the stark impact of HD on family life (Forrest Keenan et al.
2007; Vamos et al. 2007), further confirming that risk for HD is a major life stressor.

The Transactional Model of Stress and Coping

Lazarus and Folkman’s (1984) seminal work suggested that stress involves primary
appraisals about the threat, such as the perceived susceptibility to the stressor, its
cause, severity and relevance to one’s life. The threat is further evaluated with
secondary appraisals about the resources available to cope with the emotions and
problems generated by the threat. Coping strategies are chosen and implemented
based on these primary and secondary appraisals (Folkman and Greer 2000; Lazarus
and Folkman 1984).

Coping with Health Threats

Voluntary efforts to engage with a stressor are distinguished by the goal of achieving
either primary or secondary control. In the former, coping efforts are directed at
influencing conditions in order to increase a sense of personal control over the
stressful situation and one’s own reactions to it (Compas et al. 2001; Folkman and
Greer 2000; Gooding et al. 2006). For example, seeking information, generating
possible solutions and attempting to regulate emotions, such as anger or anxiety
about the stressor.
Secondary control coping efforts, on the other hand, are aimed at adapting to the
situation. In other words, people try to change how they feel about the stressor.
These coping strategies include distraction, acceptance, cognitive reframing, positive
Curr Psychol (2009) 28:284–301 287

thinking and seeking support from others (Compas et al. 2001; Folkman and Greer
2000). Secondary control coping is often adaptive for those stressors that are not
controllable (for example, being at risk for, or having, HD).
Finally, if people do not engage with the stressor, disengagement is possible.
Disengagement strategies include voluntary avoidance, denial or wishful thinking
(Compas et al. 2001).

Coping with Genetic Risk

Few studies used a stress and coping perspective to explain adaptation to HD risk. In
one study (Pakenham et al. 2004), those at risk for HD reported lower self-efficacy
and control appraisals and higher threat and passive avoidant coping strategies (for
example, avoidance) than test candidates. Stress and coping variables were related to
adjustment to HD risk. In both groups, for example, poorer adjustment was related to
(1), higher levels of contact with HD, threat appraisals and passive avoidant coping
and (2), lower levels of social support, self-efficacy appraisals, and problem solving.
Recent work highlights the complexity of coping with a fatal illness such as HD,
with coping strategies dependent on whether individuals were themselves at risk or
were caring for a partner. For example, Lowit and van Teijlingen (2005) reported
that carers of spouses with HD used avoidance as a strategy to cope (or not cope)
with HD in the family. In particular, they avoided talking about HD, both within and
outside of family, which may have limited their opportunities for social support and
also hindered carers from making future care arrangements for family members who
may eventually develop HD (Lowit and van Teijlingen 2005).
A recent study reported two main coping strategies (Quaid et al. 2008): The first,
careful concealment, involved, “uncovering the HD risk only to those who are safe,
and at times and places within the control of each participant” (p. 120). People at risk
for HD have to constantly consider whether (or when) to talk about their risk with
other family members, friends and employers. The second coping strategy observed
was preserving hope, “as a means of keeping open the possibilities of a disease-free
future for themselves and their children” (p. 124). Quaid et al. (2008) noted that hope
was sometimes maintained through uncertainty (e.g., deciding not to be tested).
Finally, research exploring young people’s experiences of living in a family
affected by HD showed varied and complex coping strategies. For example,
distancing themselves from the illness, assimilating it into their lives, planning, and
deciding to test in order to gain certainty (Forrest Keenan et al. 2007).

The Current Research

Methods

Participant Recruitment

Participants were recruited from a medical genetics clinic and from HD support
groups in Eastern Canada. Genetic counselors and provincial representatives of the
Huntington Society of Canada (HSC) provided clients with an information sheet
288 Curr Psychol (2009) 28:284–301

about the study, sample interview questions and a consent form. Respondents were
invited to contact the researcher if they were interested in participating. Recruiters
decided who should be invited to the research. Consistent with the local ethics
committee policy, those deemed as too vulnerable to participate (for example, recent
family death or cognitive impairment) were not informed about the study. Fourteen
families were contacted by the genetics clinic, while three others were informed by
their HD support group. The HSC also inserted an information sheet about the study
in its newsletter, Horizon. Three people responded to the insert, and all three were
interviewed. In total, 24 people participated in the study, representing ten different
families affected by HD. There were only two refusals to participate, both owing to
deaths in these families at the time of recruitment.

The Interviews

Interviews were conducted by the author in participants’ homes or the researcher’s

office, with a minority by telephone. Interviews were tape-recorded and transcribed
verbatim. Interviews lasted from one to 3 h, with the average being about an hour and
15 min. They were semi-structured and covered a core set of topics such as family
history of HD, daily life with genetic risk and/or illness, and healthcare concerns.
Questions were discussed with key informants (for example, representatives from the
local HSC chapter and the medical genetics clinic) prior to conducting interviews, thus
refining the interview guide. Although questions were not confined to a specific order,
all topics were covered in each interview, and participants were actively encouraged to
discuss other issues they deemed important. Minimal prompts were used as necessary to
elicit more detail (for example, Could you tell me a little more about that?).

Data Analysis—Interpretative Phenomenological Analysis (IPA)

This research explored the meanings people gave to their genetic risk and how these
were coped with in daily life. IPA was thought to be an appropriate method given these
aims. IPA (Smith et al. 1999) is a qualitative approach with roots in phenomenology
and symbolic interactionism that aims to provide a detailed exploration of how people
make sense of their experiences. It is recognized, however, that the analyst’s own
perceptions are needed in order to make sense of the personal world being studied
through a process of interpretative activity (Smith et al. 1999). It is a recent approach
to empirical research in psychology and may be particularly valuable in exploring
novel issues surrounding the new genetics (Chapman and Smith 2002).
IPA follows an idiographic approach to analysis, beginning with an initial
transcript and slowly working up to more general categorization across all transcripts
(Smith et al. 1999). Transcripts are read and re-read several times. With each
reading, meaningful groupings of data are identified which collect together emergent
themes. In this way, clusters of themes are generated for each transcript.
For example, participants described how they coped with being at risk for a fatal illness,
both in terms of things they could actively do and things they did to change how they felt
about HD. These groupings of data seemed to cluster together in meaningful and obvious
ways to describe primary and secondary coping strategies. Further themes were also
identified and coded (for example, social comparison processes). Emergent themes in
Curr Psychol (2009) 28:284–301 289

transcripts were fed back to the analysis of subsequent transcripts. In this way, connections
across participant accounts were made until a final set of shared themes was identified.
During analysis, attention shifted constantly, both between and within transcripts,
to compare the experiences of all participants. Silverman (2000) advocated use of
this constant comparative method to safeguard validity, but also argued for the
“refutability principle” (p. 178)—a process whereby researchers actively seek to
refute initial assumptions about data. This proved particularly helpful in the current
analysis and was accomplished by vigilant attention to (and questioning of)
interview transcripts and emerging themes.
Attention was also paid to accounts that seemed to run counter to emerging
explanations and themes. Deviant case analysis has long been used to improve the
quality of explanation in qualitative research (Mays and Pope 2000, p. 51). As a
further check, a detailed summary report of findings/themes was fed back to
participants for their review at the end of the research. No participant reported errors
or misinterpretations subsequent to the mailout of findings.

Results

Participants

Fourteen participants received a variety of genetic testing outcomes (Table 1). Six
participants declined testing and were at risk for HD. Four family members, not
themselves at risk, also completed an interview.
Participants were approximately 46 years of age (Range 21–73), and for those
who had been tested, an average of 6.5 years had passed at the time of the interview
(Range: 2 months–15 years). Three-quarters of the participants were female (n=18).
Most participants were married or living with a partner at the time of the interview
(n=17), and nearly all had children (n=21). All but two participants completed high
school and most went on to complete college diplomas or university degrees, two at
the graduate level.
Coping strategies are discussed under three themes: (1) Primary control coping, (2)
Secondary control coping, and (3) Social comparisons. It is not meant to suggest that
these are the only coping strategies available to people living at risk for, or with, HD.
Rather, these were the central themes that emerged in the current study. Lazarus and
Folkman (1984) suggested there was no single response to a stressor—people will
usually try several alternatives, and outcomes will be fed back to alter which other
coping responses might be made. The current results illustrate this well. No participant
relied on one, and only one, coping response. Rather, several coping strategies were
employed as the salience of genetic risk waxed and waned over the life course.

Primary Control Coping

Primary control coping aims to increase a sense of personal control over the stressor.
Analysis revealed several strategies: (1) seeking information (including having the
genetic test), (2) generating possible solutions (including lifestyle practices such as
proper diet, exercise) and (3) attempts to regulate emotions (for example, anxiety).
290 Curr Psychol (2009) 28:284–301

Table 1 Status of participants at the time of the interview

Tested positive 3
Tested negative 5
Tested, intermediate gene 2
Tested, did not receive resultsa 2
Tested, now affected with HD 2
Family history, never tested (i.e., at risk) 6
Family member, not at risk 4
Total 24

a
One result was pending, while the other participant had been tested but subsequently decided not to
request the result. For interested readers, the pending result was later confirmed to be negative

Attempts to seek out as much information about HD as possible, including having

the genetic test, can be viewed as attempts to exert control over being at risk for HD.
While nothing can alter HD risk or impede disease progression, seeking information
allowed preparation for a potential future of illness. As Cheryl put it:
I want to know to prepare myself…I should know what’s going to happen to
me and when I should expect it, and who it’s going to affect, and how it’s
going to affect me, all that kind of stuff. —Cheryl, at risk
Cheryl intends to be tested, and her comments were typical of other tested
participants. Kathleen, for example, who received an intermediate test result1 said, “I
know what’s coming my way. It makes me more prepared for it.”
Even though there is no cure for HD and only limited options for treatment,
participants attempted to generate solutions. For example, some participants suggested
that lifestyle practices such as proper diet, exercise, avoiding smoking, limiting alcohol
and maintaining a positive attitude, including the use of humor, could not hurt their
situation. Thus, while participants knew there was no ultimate solution to their risk of
HD, these behaviors were perceived as at least not being harmful. They are an attempt
to regain some control over an illness that offers virtually none. Jerry explained:
There’s things you can do though…like smoking, drinking and stuff like that. I
think cutting down on that stuff helps it—you’re killing brain cells. So all those
things are a step in the positive way, they can’t hurt. —Jerry, tested positive
Similarly, Victoria noted:
I really look after myself. I exercise a lot, and I eat well. I take a lot of
vitamins. (…) They’re finding exercise has been just as good as some of these
treatments. They think, and I do too, that if you look after yourself, you do
have a better chance. —Victoria, tested positive
Participants also described attempts to regulate how they felt about being at risk
for HD. While they cannot change their risk for HD, they can control their own

1
Those with an intermediate test result may or may not go on to develop HD.
Curr Psychol (2009) 28:284–301 291

reaction to it. Kathleen noted how she was initially quite distressed by her test result,
but learned to regulate her emotions:
First, I would cry and cry and cry everyday. I would have a spurt of crying and
it would be on my mind 24/7 more or less. But I learned not to do that now.
—Kathleen, tested, intermediate gene
Having a sense of humor also helped some participants cope:
We can even have a good chuckle about it at times. You have to try to look at it
with a sense of humor if you can. Every now and then, something funny will
come up. —Victoria, tested positive
This strategy is also available to caregivers and to persons affected with the
illness. Marjorie suggested:
You have to be funny sometimes. When I go to a meeting [support group], I
end up with a joke that sort of lightens things up a bit. —Marjorie, caregiver
You know what [relative] said when we were diagnosed? They said we needed
new ‘jeans’ for Christmas (laughing). —Steven, affected with HD

Caregivers also cope with HD by ensuring their loved one receives the best possible
care, including specialist providers and medications. It illustrates primary control coping
strategies of seeking information and generating possible solutions. Shirley explained:
If I can keep him comfortable, you know, and do the best I can, get the best
medication I can for him. (…) I want one thing, one priority…I want the meds
that he needs. These are practical matters. They can be solved easily with a
doctor who understands. —Shirley, caregiver

People affected with HD also cope with the illness by keeping regular
appointments with specialists and by constantly finding the right balance with
medication. Steven explained he has everything he needs right now, seeing
specialists regularly, although he struggles with balancing medications:
I haven’t spent a night’s sleep in months… it could be because of the
medication. The medication can help ease the chorea… That’s been keeping
me awake. I’m on [names drug] now. —Steven, affected with HD

David similarly suggested:

It is a fine line with the medication because I can up my meds and I can be
here zonked out and I am not going to be freaking out about nothing. But then
again, you want to participate too…The most important thing for me in my
life, on a day to day basis, is how I function with my family. If I can’t do that,
my quality of life is squat. —David, affected with HD

The professional support of specialists, such as neuro-psychologists or psychia-

trists, also assists coping efforts:
I place a real emphasis on making sure people get to see specialists as soon as
they can because it was a big help for me. (…) If somebody comes into a GP
292 Curr Psychol (2009) 28:284–301

who has a neurological disorder, it should be automatic that they get a referral
to a psychologist. —David, affected with HD
In general, primary control coping efforts were directed at giving oneself (or one’s
affected relative) the best possible chance in relation to when HD would manifest or
in how disrupting the disease currently was to one’s life. Thus, some asymptomatic
individuals attempted to eat right, exercise and limit alcohol and smoking, while
currently affected persons and their caregivers strove to find the right balance with
HD medications. Those currently affected with HD also try to make and keep regular
appointments with healthcare specialists.
Notably, fewer at risk participants employed primary coping strategies. Rather,
they were more likely to engage in secondary coping strategies.

Secondary Control Coping

Secondary control coping is aimed at adapting to an unchangeable situation. During

analysis, the secondary control coping strategies which emerged included: (1)
Appeals to luck or fate and/or rationalization, (2) Trust in science, (3) Seeking social
support from others, and (4) Acceptance.
Some people at risk for HD did not view genetic testing as an instrument for
planning their futures and some referred to their futures as being fated with regard to
developing HD, regardless of their actions. Appeals to luck or fate can be seen as a
coping mechanism for living at risk. Giddens (1991) noted that entrusting one’s life
to fate, …“relieves the individual of the burden of engagement with an existential
situation which might otherwise be chronically disturbing” (p. 133).
If it’s going to happen, it’s going to happen, no matter what. I believe that
everybody’s life is pretty much mapped out. You can make a few changes to it,
but you can’t take it off track. —Roxanne, at risk
Right now, I feel comfortable not knowing. If I am going to get it, well, I’ll get
it. —Sherri, at risk

For some participants, then, perceiving the future as a matter of fate allowed them
to manage the stress that comes with living at risk for HD. If the future is perceived
as unmanageable and uncontrollable, it makes little sense to worry about what could
happen.
Participants also engaged in rationalization in an effort to cope. In this way,
participants tried to adapt to the stressor by minimizing the risk of HD and placing it
in the context of all the other risks that exist in life.
You can’t dwell on it. I could get sick tomorrow and be diagnosed with cancer, or I
could fall down with a heart attack. I could leave here after talking to you and go to
the store and be hit by a tractor trailor. That’s life. —Jerry, tested positive
I keep coming back to cancer. I could die from cancer before I die from
Huntington’s, or anything else. I could get hit by a car tomorrow. —Cheryl, at risk

When the risk of developing HD could be rationalized by comparing it to any

risk, participants seemed able to cope with living at risk, or testing positive for, HD.
Curr Psychol (2009) 28:284–301 293

Trust in science was a commonly observed secondary control coping strategy. Most
participants suggested that science would find a cure for HD, if not in time for them,
then certainly for their children. This trust allowed participants to change how they
thought about HD: With the perception of a cure just around the corner, HD would no
longer be fatal. Even if a cure could not be found, there was hope that science would
close the therapeutic gap that currently exists between testing positive and manifestation
of symptoms. Similar results were recently reported by Quaid et al (2008).
There’s been so much research done since Mom had it, you know? So, yes, I
still have hope that there is going to be a cure or at least something that will
slow down the process. —Dorothy, tested, intermediate gene
I always keep telling myself that by the time I am diagnosed and the chances of
my kids being diagnosed with it, there is going to be a cure. I am confident
they will have a cure or something to really slow that process down by years
by the time I am affected. —Michelle, at risk
Younger at risk participants (twenties), while trusting science to find a cure in
their lifetime, were skeptical of a cure in their parents’ lifetime:
They have made so many breakthroughs, so many different things. I’m hopeful
for myself, but I can’t exactly say I’m hopeful for my Mom. There’s not
enough hope and confidence and time for my Mom. —Cheryl, at risk
Thus, while trust in science enabled some to engage in positive thinking (a
secondary control coping strategy) regarding their own risk for HD, trust did not
extend to their relative’s situation. This was the case when a relative was nearing the
age of onset or was already affected with HD.
Negative case analysis revealed two participants at risk for HD who dismissed
science’s ability to find a cure. Notably, both participants engaged in fatalism as way
of coping with genetic risk.
I don’t know. It seems like things have a way of changing themselves. If they find
a cure, it changes itself and mutates…like, they came up with a cure for the
common cold, they give everybody flu shots. Then, that doesn’t work because the
flu mutates so much, there’s no way to keep track of it all. By the time they defeat
one strain, that pretty much changes it and you end up with something new. (…)
It’s God nature that everything has to die sooner or later and there got to be a way
for it to die. I think that’s just God’s way of saying, ‘Look, no matter what you do,
it’s always going to be there.’ —Roxanne, at risk
Some participants also sought social support as a way of coping with HD. This
was most evident in the people affected with HD and their caregivers, though at least
one tested participant was a member of an online support group. Their narratives
were similar in that they all suggested it was important to know how others were
coping with the same issues. Kathleen’s comment was typical:
It was really nice sitting down and to know that these people feel the same way
I do. They are hurting the same as I am. At the time, you think you are the only
one who’s hurting. (…) It was so good to get together and know that there
were more people like you out there. —Kathleen, tested, intermediate gene
294 Curr Psychol (2009) 28:284–301

Some lamented the lack of social support for families affected by HD. When
asked if she had any suggestions for healthcare professionals, Serena commented:
I guess support is the main thing that you need when you’re going through
something like that. You have people out there in the same situation that you’re
in. You can talk to them and they understand what you’re going through.
—Serena, at risk
Of course, seeking social support was not a panacea for everyone at risk for HD.
Others did not seek such social support, fearing it could make their risk salient. They
did, however, suggest that such support would have been beneficial when they were
caring for an affected relative.
I think if I was attending support groups and stuff, it would play on my mind
more because I would be more actively involved in things. (…) It would have
been [beneficial] earlier in life when I was looking out to Mom and ran into a
lot of problems of different things happening. —Michelle, at risk
Finally, at least two participants spontaneously suggested that professional social
support is essential, but seriously lacking, for children of families affected by HD.
I think that people don’t know that kids need counseling too. They are living in
a verbally abusive environment. Children need it too. —David, affected with
HD
Brenda was concerned for her at risk nieces and nephews:
I think there needs to be more support for the children…There has to be stuff
going on in their minds and wondering, ‘Do I have it?’ ‘Don’t I have it?’ And
do they really have the support to talk about it at that age? —Brenda, at risk
The final secondary control coping strategy that emerged in participant narratives
was acceptance; although, this was the least frequent strategy in the current research
and was normally used in conjunction with some of the other strategies outlined in
previous sections. Kathleen, for example, suggested:
I don’t let myself dwell on it anymore. I can’t change it. It’s something I have
to live with. I have to realize that I have to make the best of what I’ve got left. I
can’t be…give up my life because I have the gene for HD. —Kathleen, tested,
intermediate gene
Shirley suggested that as a caregiver, HD simply becomes part of your life:
At first, it’s a very frightening thing, but after a while, it sort of, you know, it
doesn’t sound very nice, but it’s a lifestyle. —Shirley, caregiver

Social Comparisons

Festinger’s (1954) seminal social comparison theory holds that we learn about our
own abilities and opinions by comparing ourselves to others. Beyond the
informational value of social comparisons, they also serve an important motivational
function, being key determinants of affect and self-esteem. A robust body of work
Curr Psychol (2009) 28:284–301 295

suggests that positive affect and self-esteem can be impaired by unfavorable

comparisons of valued attitudes or outcomes with others (upward comparisons) and
enhanced by favorable comparisons with others who are not perceived as superior
(downward comparisons; Crocker et al. 1998; Wills 1981). Comparison of the self to
others who are thought to be doing better can be threatening. This is especially likely
for attributes over which one has little or no personal control (Crocker et al. 1998),
such as being at risk for, or having, HD.
A majority of social comparison research within health psychology has focused
on downward social comparisons, particularly to in-group members. However,
recent work and reviews question the premise that threat will automatically lead to
downward social comparisons (Gibbons et al. 2002). For example, a study of people
with schizophrenia observed upward, downward and lateral comparisons (the latter
two being more frequent; Finlay et al. 2001). Comparison targets were not always
in-group members (for example, other schizophrenics), but were frequently an
unspecified, general target (for example, everybody, other people). Finlay et al.
(2001) noted that people chose a wide range of attributes (not solely having
schizophrenia) when making comparisons, and positive representations of the self
were more frequent than negative.
Similar results are reported here. The interview guide did not attempt to probe for
social comparisons per se; however, participants spontaneously engaged in social
comparisons when asked about how they were dealing with the risk/illness. For
example, Victoria’s comment was a typical example of lateral comparisons of the
self to generalized others. “I think I’m pretty much a normal person and am quite
active, the same as anyone else.”
Like Finlay et al.’s (2001) findings, current participants compared themselves to
generalized others on a wide range of attributes, not just being healthy or ill.
Additionally, positive representations of the self were much more common than
negative portrayals. Most participants in the current research believed they were
coping well with their risk for HD.
While there were many such comparisons observed in the current study, here I
wish to highlight the most common type of comparison observed. The majority of
participants compared themselves to their affected relative (who was often
deceased), specifically remarking on their relative’s age of onset. These comparisons
offered an effective coping mechanism for both at risk and tested participants. Jerry
remarked:
If I look at my odds and if I look at my Mom, if I could live as long as she did,
with a normal life—before the sickness I mean—and do the things that she did,
it wouldn’t be all bad I suppose. —Jerry, tested positive
If I can say in my mind I am going to be like Dad and I am not going to show
obvious symptoms until I am that age, well, that gets me through the next
period relatively easy. —Julie, at risk
I think about the fact that Nan was old. She was in her sixties before she even
found out she had it. So, I mean, in that respect, I think to myself, I can still
live a good, healthy normal life. —Roxanne, at risk
A final note on coping with genetic risk
296 Curr Psychol (2009) 28:284–301

Most observed coping strategies were engaged, voluntary coping responses

(Compas et al. 2001). There was no evidence of wishful thinking in any participant
narrative and little evidence of denial of genetic risk. At least two participants,
however, evinced voluntary avoidance of genetic risk for HD. Serena, for example,
suggested she actively tries to suppress thoughts about her risk:
Yes. Everyday, yes, I can say you do think about it. Then, you sort of say to
yourself, ‘No, block it from your mind.’ —Serena, at risk
She also remarked that, as a family, she and her siblings sometimes do not discuss
the family history of HD since it is depressing:
We don’t talk about it sometimes. When you do, it is depressing. It is
depressing and I guess that’s why you keep it and don’t discuss it.
Dorothy suggested that despite trying to ‘block’ the worry, there are times it
simply cannot be avoided:
I do worry about it. I try not to think about it most of the time. I block it out.
But there are times when it comes out strong in your mind that you have no
other choice but to think about it. —Dorothy, tested, intermediate gene
Voluntary avoidance may not be maladaptive: It allows some people at risk for
HD to maintain hope (Quaid et al. 2008), and as several participants said, “get on
with” their lives.

Discussion

Coping with (risk for) a fatal genetic illness was a dynamic process. Both primary
and secondary control coping strategies, in addition to social comparisons, were
commonly observed. Primary control coping included seeking information about
genetic risk and HD (for example, having the genetic test), generating possible
solutions, such as lifestyle practices, and monitoring emotions (for example,
anxiety).
Wilkinson (2001) described two constructions of risk that he suggested were
differentially related to anxiety. In the first, risk is an outcome that is largely
unwanted and incalculable. The future is perceived as containing any number of
unknown dangers or hazards. The second and contrasting usage of risk, however, is
related to certainty. It is this usage that underlies genetic testing as a primary control
coping strategy. In this construction, knowledge of risk is seen as permitting one to
predict the likelihood of future events, and by implication, suggests a degree of
control over the future (Hallowell et al. 2004).
Participants who chose not to be tested and remained at risk, however, were less
likely to talk about the benefits of a certain future. This view was also held by those
affected with HD and their caregivers, supporting recent research (Dawson et al.
2004; Lowit and van Teijlingen 2005). Quaid et al. (2008) suggested, “Participants
choosing not to be tested is not denial but a positive way to preserve both hope and
their identities as people with a future” (p. 127). They suggested that clinicians,
therefore, “need to be vigilant about promoting an attitude that privileges knowing
Curr Psychol (2009) 28:284–301 297

over not knowing” (p. 127). These findings underscore the importance of fully
discussing motivations for testing with at risk individuals prior to the test decision.
Biesecker and Erby (2008) also noted that by inviting clients to share their personal
experiences and goals regarding genetic conditions, genetics healthcare professionals
would also foster the process of finding meaning in the illness, an effective coping
strategy for those at risk for genetic conditions.
While voluntary avoidance may allow some at risk people to preserve hope, it can
have negative long-term consequences for carers of people with HD. For example, it
may limit social support opportunities and future planning regarding the affected
family member (Lowit and van Teijlingen 2005). Similarly, caregivers in the current
research reported that they faced each day as it came and did not, in general, plan
ahead. This may have implications for health service planning as individuals with
HD will eventually need placement in care homes. Study findings and others suggest
the need for such care may be underestimated (Dawson et al. 2004).
Tested participants, those affected with HD and their caregivers also coped by
trying to generate possible solutions. Participants spoke about lifestyle choices that
were in their control such as exercise, proper diet and maintaining a sense of humor.
Affected participants and their caregivers also worked to ensure the former have the
best possible care (e.g., medications and providers). A relatively simple intervention
that is possible during a clinic visit is for genetics healthcare providers to strategize
with clients about controllable aspects of their condition (Biesecker and Erby 2008).
This is important since primary control coping strategies are associated with better
adjustment in a wide range of chronic health problems, including HD (Pakenham et
al. 2004).
Poorer adjustment, on the other hand, is related to passive avoidant strategies such
as wishful thinking, self-blame and avoidance. There was no evidence of self-blame
or wishful thinking in participant narratives. Some people at risk did reveal
voluntary avoidance they actively tried to stop thinking about their risk or avoided
discussing it with siblings. In the context of their interviews with women at risk for
breast cancer, Kenen et al. (2004) suggested that restricted communication about
cancer in the family provides a means of distancing at-risk individuals from their
own increased risk. As noted, however, voluntary avoidance may not be the most
optimal coping strategy for caregivers.
Despite some reported voluntary avoidance in a minority of study participants,
however, no differences emerged across participant accounts of how well they were
coping with their risk. Similarities in perceived adjustment between tested and at risk
participants are consistent with the suggestion that some people at risk for HD cope
well with their increased genetic risk and do not need a predictive test (Evers-
Kiebooms et al. 2000). Additionally, study participants who revealed avoidant
coping also relied on other coping strategies; these could have mitigated any
negative effects of avoidant coping.
For example, secondary control coping strategies included appeals to luck or fate,
rationalization, seeking social support and trusting science. Secondary coping strategies
are often adaptive, particularly for stressors that are beyond one’s control—the notable
context of living at risk for HD.
At risk participants were more likely than tested participants to construct their
futures as determined by the vagaries of luck and fate, rather than genetics. Similar
298 Curr Psychol (2009) 28:284–301

findings were reported with women at risk for inherited breast cancer (Hallowell et
al. 2004). People turn to fate as a means of explanation when they face risks over
which they have little or no control (Giddens 1991). By suggesting they would face
whatever the future might bring, they were able to manage their fears about a future
they could not change, but that might include HD. This suggests that some people at
risk for HD had not made provision for a future that might include HD, having
implications for healthcare provision and services.
Trusting science to find a cure for HD can also be an adaptive coping strategy,
allowing people to reframe their risk: If a cure is found, HD is no longer a fatal
disease and is less anxiety-provoking. Trust in science represented a secondary
control coping response for many participants in the current study, whether at risk,
tested, affected or caregivers. Kenen et al. (2003) also observed great trust in science
and medicine in their interviews with women at risk for breast cancer. These findings
highlight the importance of timely and honest communication between service
providers, researchers and people at risk for HD.
Secondary control coping was also observed as participants actively sought social
support from others affected with HD. This strategy was particularly likely for those
affected with HD and their caregivers. Some participants who had been tested
confirmed that future contact with similar social others would be beneficial when
HD symptoms began.
Very few studies have examined social support in people at risk for HD. An early
study found social support to be related to better adjustment following receipt of test
results (Tibben et al. 1993). Pakenham et al. (2004) observed social support was
related to better adjustment across several domains (e.g., global distress, depression
and health anxiety) for both those who had been tested and those who remained at
risk. Genetic testing protocols imply the importance of social support in the
encouragement given to test candidates to have someone accompany them
throughout the testing process.
Study participants were curious about how other families found out about HD and
how they were coping. This finding corresponds with a study of (ex-) cancer patients
who indicated the need for social comparison information and contact (Bennenbroek
et al. 2002). A readily apparent implication of these findings lies in patient education
and information. Patients and their family members want information about their
diseases, along with social comparison information, especially about those who are
coping well with the illness. Bennenbroek et al. (2002) recommended that clinicians
provide patients with information about support groups in their area, a suggestion
that arises from the current study as well. Some research found that patients can be
unaware of such support (Eakin and Strycker 2001), and current participants
confirmed this for HD support as well. A recent study found that support groups for
people affected with HD and their caregivers were perceived as beneficial, both for
exchanging practical information about the disease and for bolstering the spirit
(Dawson et al. 2004).
These findings confirm the importance of social comparisons in adjusting to
genetic risk for HD and the illness itself. The most common type of comparison
observed was to affected relatives. Both those who had been tested and those who
remained at risk compared themselves to their deceased relative. Since the age of
onset was late, participants suggested they could still live a fairly long, normal,
Curr Psychol (2009) 28:284–301 299

healthy life before (or if) HD manifested. Particularly for those at risk, if the age of
onset was early in an affected relative and at risk participants had passed that age,
this comparison also seemed to serve as an effective coping strategy for living at
risk.
These findings suggest that a thorough discussion of the family history of HD,
including manifestation in specific relatives, be a component of genetic counseling
sessions. This may allow counselors to better understand clients’ perception of their
own risk, as well as assist patients adjust successfully to their risk.

Conclusions

Individuals at risk for HD, those living with the illness and their caregivers employ
numerous coping strategies in the context of daily life with (risk for) a fatal illness.
Strategies included both primary and secondary control coping, as well as social
comparisons, notably to affected relatives. The end result of these strategies is that
participants appeared to find a balance between living with uncertainty and
preserving hope for themselves and their children (see also Quaid et al. 2008).
Research is needed to explore the long-term outcomes of various coping strategies.
Longitudinal research in those at risk for HD is very rare, but could have critical
implications for follow-up support, as well as provide necessary information for
health service planners and policy-makers.

Acknowledgements I am grateful to participants for sharing their stories with me. I also thank
representatives from the medical genetics clinic and the local branch of the HSC for their help with
recruitment. This research was generously supported by a doctoral fellowship to the author from the
Newfoundland and Labrador Centre for Applied Health Research and the Department of Psychology,
Memorial University, both in St. John’s, NL, Canada.

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