Making Sense of a Positive Genetic Test Result for Huntington Disease
| Status: | Completed |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 4/21/2016 |
| Start Date: | October 2007 |
| End Date: | August 2008 |
Meaning Making Among Asymptomatic Individuals With a Positive Presymptomatic Genetic Test Result for Huntington Disease
This exploratory study will examine ways in which individuals approach a positive genetic
test for Huntington Disease (HD). HD is a neurodegenerative disorder that causes emotional,
cognitive, and movement problems, and currently there is no way to prevent, stop or reverse
the progression of the disease. It is passed down through a mutation in a normal gene, and
each child of an HD parent has a 50-50 chance of inheriting the HD gene. The study is
designed to explore how individuals adjust to their new genetic status and evaluate any
perceived mental or emotional barriers to that adjustment. Currently, little is known about
how individuals come to terms with a positive genetic test result for a condition that has
no known cure or effective treatment. The results of this study may give health care
providers and counselors more information about how to help patients who are at risk for
developing HD make sense of their new genetic status.
Candidates will be prescreened and referred to the study by clinics that specialize in
genetic testing and counseling. Candidates must be 18 years old or older and must have
received a positive genetic test result for HD at least one month prior to the study. They
must also perceive themselves to be asymptomatic-that is, without existing HD symptoms.
During the study, participants will be interviewed and asked a series of questions about
their decision to pursue testing, their life since the testing, and the things that they
have found helpful or unhelpful since receiving the test results. The interviews will be
recorded and will last approximately 60 minutes. Participants also will receive a follow-up
phone call within two to three days to ensure their general psychological well-being after
the interview.
test for Huntington Disease (HD). HD is a neurodegenerative disorder that causes emotional,
cognitive, and movement problems, and currently there is no way to prevent, stop or reverse
the progression of the disease. It is passed down through a mutation in a normal gene, and
each child of an HD parent has a 50-50 chance of inheriting the HD gene. The study is
designed to explore how individuals adjust to their new genetic status and evaluate any
perceived mental or emotional barriers to that adjustment. Currently, little is known about
how individuals come to terms with a positive genetic test result for a condition that has
no known cure or effective treatment. The results of this study may give health care
providers and counselors more information about how to help patients who are at risk for
developing HD make sense of their new genetic status.
Candidates will be prescreened and referred to the study by clinics that specialize in
genetic testing and counseling. Candidates must be 18 years old or older and must have
received a positive genetic test result for HD at least one month prior to the study. They
must also perceive themselves to be asymptomatic-that is, without existing HD symptoms.
During the study, participants will be interviewed and asked a series of questions about
their decision to pursue testing, their life since the testing, and the things that they
have found helpful or unhelpful since receiving the test results. The interviews will be
recorded and will last approximately 60 minutes. Participants also will receive a follow-up
phone call within two to three days to ensure their general psychological well-being after
the interview.
Huntington Disease (HD) is a progressive neurological condition, eventually leading to
death. Presymptomatic, predictive genetic testing can inform individuals of their genetic
status. A positive genetic test result can be a threatening event. In adapting to
threatening events people often try and find meaning in the experience. Meaning making
refers to the attempt to understand an event or experience and its significance in the
context of one's life. The search for meaning can eventually lead to acceptance of an event
or experience, and is considered an important component of adaptation. Although it has been
established that testing for HD can be a significantly stressful event, and that meaning
making is a frequent response towards adaptation, little is known about this process among
individuals faced with a positive genetic test result for HD. This study will describe
meaning making in a population of presymptomatic individuals with a positive genetic test
result for HD.
Semi-structured interviews will be conducted, recorded, transcribed, and analyzed. A
typology of common themes will be compiled and reported. Data gathered from these interviews
will improve understanding of the phenomenon of meaning making in this population, and will
contribute to the existing literature on the role of meaning making in cognitive adaptation.
This study will specifically help gain insight into the process of meaning making among
individuals who have tested positive for HD, and may potentially inform the ways in which
health care professionals can help facilitate meaning-making among this population, in their
process of adaptation to a stressful live event.
death. Presymptomatic, predictive genetic testing can inform individuals of their genetic
status. A positive genetic test result can be a threatening event. In adapting to
threatening events people often try and find meaning in the experience. Meaning making
refers to the attempt to understand an event or experience and its significance in the
context of one's life. The search for meaning can eventually lead to acceptance of an event
or experience, and is considered an important component of adaptation. Although it has been
established that testing for HD can be a significantly stressful event, and that meaning
making is a frequent response towards adaptation, little is known about this process among
individuals faced with a positive genetic test result for HD. This study will describe
meaning making in a population of presymptomatic individuals with a positive genetic test
result for HD.
Semi-structured interviews will be conducted, recorded, transcribed, and analyzed. A
typology of common themes will be compiled and reported. Data gathered from these interviews
will improve understanding of the phenomenon of meaning making in this population, and will
contribute to the existing literature on the role of meaning making in cognitive adaptation.
This study will specifically help gain insight into the process of meaning making among
individuals who have tested positive for HD, and may potentially inform the ways in which
health care professionals can help facilitate meaning-making among this population, in their
process of adaptation to a stressful live event.
- ELIGIBILITY CRITERIA:
Participants for this study will be men and women, age 18 or older, who have undergone
presymptomatic genetic testing for HD, received a positive test result and currently
perceive themselves as being asymptomatic. To obtain a range of experiences, the
investigator (PR) will attempt to recruit individuals with a range of elapsed time since
their positive test result.
INCLUSION CRITERIA:
- 18 years or older
- Able to speak and understand English
- Received results that they believe are positive at least one month ago
- Perceive themselves to be asymptomatic
- Willing and able to read and describe the consent form before the phone interview
EXCLUSION CRITERIA:
- Test result less than a month ago
- Believe that they got a negative test result
- Believe themselves to be symptomatic
- Obvious symptoms of dementia or serious mental illness that would preclude consent
We found this trial at
4
sites
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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Johns Hopkins University The Johns Hopkins University opened in 1876, with the inauguration of its...
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Baylor College of Medicine Baylor College of Medicine in Houston, the only private medical school...
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University of Pittsburgh The University of Pittsburgh is a state-related research university, founded as the...
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