RUNNING HEAD: THE EFFECTS OF GENETIC TESTING FOR

HUNTINGTONS DISEASE IN MINORS

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The Effects of Genetic Testing for Huntingtons disease in Minors

Michelle Larsen
English 2010
Salt Lake Community College

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One of the most controversial subjects in medicine is the debate
on genetic testing. And testing for a genetic disorder so rare, only 1 in
10,000 people have it (Nordqvist, Web), can bring many heated
arguments to the table. Huntington's disease, of all the genetic
disorders one can acquire, is the most relentless and cruel. With "no
effective treatment," death is inevitable (Munson, p. 221). For those
that carry the gene, they have a fifty-fifty chance of passing it along to
their offspring. And for those that inherit the gene, the chances of
developing the disease are one hundred percent.
Testing for the disease is still fairly new, which explains the
controversy surrounding it. In 1993, researchers found that the gene
was identifiable on chromosome 4; after this was discovered, a
"genetic tests for [the presence of Huntington's disease] was quickly
developed" (Munson, p. 222). Like most genetic testing available, one
can decide if they wish to find out if they carry a particular gene, or
they can opt to have their future children tested in vitro.
Much of the controversy surrounding this debate stems from the
question about whether or not testing minors for the disease is ethical.
Many studies have been done about the psychological effects of
testing for a deadly disease at such a young age, and whether the
benefit outweighs the potential harm in these instances. By taking a
closer look and examining the effects of testing for such a fatal genetic

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disorder in young people, it can become easier to decide if such testing
is necessary.
The National Society of Genetic Counselors (NSGC) addressed
psychological impacts of the predictive test for Huntingtons disease in
September of 2014. Their aim in studying these effects was to
approach the positive and negative impacts on an individuals life,
including loss of hope and distress or relief and an increased
appreciation for life (Crozier, Robertson, Dale, p. 30). In examining the
psychological effects of genetic testing, they found that there were
increased levels of distress in those being tested for Huntingtons
disease, more so than for any other genetic disorder (Crozier, et al. p.
30). They concluded, There may be different psychological impacts of
predictive testing depending on disease type (Crozier, et al. p. 31). This
prompted them to further study the effects of Huntingtons specifically.
In November of 2013, The NSCG conducted eight different
studies involving individuals 18 years and younger and based their
results on each individuals idea of how severe the disease was,
treatments that could be offered, and the timing of when the disease
might occur. The criteria for measuring the psychological effects
involved examining the number of individuals after testing with
symptoms such as depression, hopelessness, anxiety, distress,
negative outlook on overall well-being, and self-injurious/suicidal
tendencies. At the end of these studies, they found that there we more

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cases of depression and hopelessness than any of the other symptoms,
as it appeared in seven of the eight studies (Crozier et al., p. 32). In
their conclusion of these studies they acknowledged the fact that
predictive testing may have impacts on a persons psychological wellbeing, but given that this was the first time they examined these
effects closely, it was hard to say for sure. They realized that further
testing would need to be done to provide a broader view of the impacts
in the long term, rather than just examining results from this short time
frame (Crozier et al., p. 36). The data found based on their study is not
sufficient enough to determine if there are psychological effects based
specifically on this predictive test for Huntingtons disease or whether
it is a coincidence. However, the data does not disprove the original
hypothesis, leading to the logical belief that more evidence should be
collected.
In 2015 an article was published in the journal Clinical Genetics
titled, "Help or Hindrance: Young People's Experiences of Predictive
Testing for Huntington's disease." In this article, it describes how a
study was done to evaluate the "psychological and social challenges"
that young people can face after deciding to be tested for this genetic
disorder (K. Forrest Keenan, L. McKee, Z. Miedzybrodzka, p. 563).
Researchers conducted a study involving twelve individuals who were
twenty-five years old and younger. The study was prompted by their
initial thoughts suggesting that predictive testing for Huntington's

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disease did not lead to increased rates of suicide or psychiatric illness.
After the study, they found that the subjects described their
experience in a variety of ways, from "a journey of empowerment, "or
"an ambivalent process," to "a poor experience" (K. Forrest Keenan et
al., p. 564). The individuals who saw this testing process as
empowering were most likely considering the fact that they now knew
what to expect, and could plan for their future families or other aspects
of life accordingly. For those that saw it as a poor experience, anxiety
and worry about the outcome of the test were main contributors.
So far, it is apparent that there are similarities between the study
conducted by the NSCG and the study evaluated by the Clinical
Genetics journal. They both studied psychological effects in minors and
the impacts on their emotional well-being that certain test results
could cause. However, in the second study discussed, the initial reason
for conducting the study was the hypothesis that predicted there were
no long-term psychological effects.
In the follow-up phase of the 2015 study, the author voiced his
concern that "the young people did not anticipate the effects on their
family members" (K. Forrest Keenan, et al., p. 568). When taking a look
at how these young individuals felt about their test results, much of the
anxiety and distress was related to how they felt about sharing the
results with family or friends. At the conclusion of the study, they found
that the experiences in predictive testing were similar to those of

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adults and that any issues found were related to the subjects' stage of
development (establishment of personal identity or maturity level, for
example) (K. Forrest Keenan et al., p. 569.)
Much like other studies that have been conducted and like the
first study discussed, the author also stated: further testing is needed
to explore the long-term outcomes for young people who seek
predictive testing for Huntingtons disease (K. Forrest Keenan, et al.,
p. 570). For this study, additional follow-up in the next twenty years
could help with identifying the presence of positive or negative
psychological impacts. By following up with this study, they can gain
long-term information, which will help in any other testing they might
pursue.
When considering the psychological effects that one can
experience in the process of being tested for an incurable and fatal
disease like Huntingtons, it is helpful to look at the ethical aspects this
presents. Since there is the possibility of an individual experiencing
depression or anxiety, for example, one may wonder if being tested is
worth the additional internal struggle. One article attempted to study
this. In an article titled, Ethical Aspects of Undergoing a Predictive
Genetic Test for Huntingtons disease, the authors examine these
psychological effects from a life history perspective (Andersson, Juth,
Petersn, Graff, Edburg, p. 190). This study prompted the researchers
with a Sweden university to follow one person who was at risk for

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carrying the gene for the course of the testing process and for several
months thereafter. They found that in the time leading up to getting
the results, impatience was the cause of most of the distress, rather
than worry about what the outcome might be. Since there are many
steps in the process of testing someone's DNA, it can take several
seemingly long weeks to get results. After the results were in is when
the inner turmoil began. The author described the subject's experience
as "chaos and despair" (Andersson, et al. p. 193). After hearing that
the test was positive, the subject panicked about her diagnosis,
realizing that she would inevitably develop Huntington's disease. In the
following months, she became depressed and lived with denial about
how severe her symptoms might become, but she was hopeful that she
would overcome her fate and remain healthy.
Though the initial results of the test brought much grief and
stress, she was able to remain optimistic about the future in regards to
her genetic condition. The consequences for the subject and her family
give us the chance to think about whether or not being able to predict
whether some [will develop] a serious disease in the future is
associated with several ethical issues (Andersson, et al., p. 197).
They concluded that the individuals who undergo this predictive test
should be mature enough to handle the emotional strains that almost
certainly follow this type of news. Since this disease is passed down
from generation to generation, some might decide that testing is a

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smart decision, as long as the person being tested is old enough to
understand the implications of what they are doing. Like the first two
studies mentioned previously, where studies specifically tested young
individuals, it is seen that there are many risks associated with
allowing young individuals with developing minds make the decision to
be tested. Maturity level seems to be a recurring theme. Symptoms of
depression and anxiety are often mentioned as occurring after results
from genetic tests are discovered.
Though there are many studies designated to the research of
impacts these genetic tests can have on young individuals, it is seldom
stated who decides to test these young people. At this present time,
any medical consent needed from minors if provided by their parents.
This is due to the fact that there are no widely accepted standards for
weighing parents desires against those of their children (D. Wertz, J.
Fanor, P. Reilly, 1994, p. 875). If a child up to the age of 18 is
considered at risk for having the gene for Huntington's disease, the
decision from their parents outweighs any personal decision they may
wish to make. In the case of children too young to understand these
implications, future psychosocial outcomes and impacts are often
overlooked by the adult responsible for the child's consent. Because of
this, the International Huntington's Association recommended that
minors should not be tested for the disease (D. Wertz, et al., 1994, pg.
875). This policy was designed to help prevent many of the

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psychological struggles that follow unfortunate diagnoses. Though
some have found that a child being tested for such a harmful disease
relieves family anxiety, this result is not long lasting. After the
immediate feeling of relief and security wears off, other symptoms can
manifest, leading personal psychological problems in the child.
In conclusion, the evidence that has been found so far on the
psychological effects that occur when minors are tested for genetic
diseases is still fairly new and limited. Due to the ethical questions it
poses, the amount of research that can be done is small. From the
studies that have been done, they all seem to agree that genetic
testing for Huntington's disease specifically is something that can
create a variety of responses, from experiencing symptoms of
depression to experiencing a sense of relief about certain test results.
Many of these researchers studies were led to conclusions about
waiting until individuals are mature enough to decide for themselves
before undergoing a predictive test. Further testing still needs to be
done to prove that one side is right over the other, however, here are
still many stipulations regarding the ethical appeal of predictive
genetic testing in general. As more research is being done and more
medical advancements are made for these diseases, more questions
will be answered and long-term effects on one's psychological wellbeing will become more apparent.

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References
Andersson,P.L.,Juth,N.,Petersn,.,Graff,C.,&Edberg,A.(2013).Ethicalaspects
ofundergoingapredictivegenetictestingforHuntington'sdisease.Nursing
Ethics,20(2),189199.
Crozier,S.,Robertson,N.,&Dale,M.(2015).ThePsychologicalImpactofPredictive
GeneticTestingforHuntingtonsdisease:ASystematicReviewoftheLiterature.
JournalOfGeneticCounseling,24(1),293911p.Doi:10.1007/s10897014
9755y
Keenan,K.F.,McKee,L.,&Miedzybrodzka,Z.(2014,May27).Helporhindrance:
YoungpeoplesexperiencesofpredictivetestingforHuntingtonsdisease.
RetrievedJuly04,2016,from
http://onlinelibrary.wiley.com/store/10.1111/cge.12439/asset/cge12439.pdf?
v=1&t=iqa06m2y&s=7f44dc50eb6a6e15b740d89daab7e48e43665881
Munson,R.(n.d.).Interventionandreflection:Basicissuesinbioethics.pg.221224
Nordqvist,C.(2016,February29).HuntingtonsDiseaseNeurology/Neuroscience
Caregivers/HomecarePalliativeCare/HospiceCareHuntington'sdisease:
Causes,Symptoms,andTreatments.RetrievedJuly05,2016,from
http://www.medicalnewstoday.com/articles/159552.php
Wertz,D.C.,Ph.D.,Fanor,J.H.,Ph.D.,&Reilly,P.R.,MD,JD.(1994,September).
Genetictestingforchildrenandadolescents.Whodecides?JAMATheJournalof
theAmericanMedicalAssociation,272(11),875876.Retrievedfrom

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https://www.researchgate.net/publication/15121415_Genetic_testing_for_children
_and_adolescents_Who_decides.