Uncertain Genetic Test Results for Lynch Syndrome
| Status: | Completed |
|---|---|
| Healthy: | No |
| Age Range: | 18 - 100 |
| Updated: | 4/6/2019 |
| Start Date: | April 25, 2012 |
| End Date: | February 5, 2016 |
Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results
Background:
- Individuals have varying tolerances for receiving ambiguous information. However, not
much is known about how ambiguous genetic testing information is received. Also, not
much is known about how at-risk individuals internalize and process these results. More
information is needed about how this information affects a person s life.
- Lynch Syndrome is a genetic condition that carries a high risk of colon cancer and other
cancers. Individuals at risk for Lynch Syndrome can have genetic testing for it. The
test may confirm a diagnosis and determine actions that can be taken. Results from
genetic testing can also affect the perspectives of relatives who might also be
affected. However, genetic testing can also produce variants of unknown significance
(VUS). VUS are data that may not provide enough information to make decisions.
Researchers want to study people who have received a VUS result for genetic testing for
Lynch Syndrome.
Objectives:
- To learn more about the impact and experience of receiving a VUS for Lynch Syndrome genetic
testing.
Eligibility:
- Individuals at least 18 years of age who have recently had a VUS result on a genetic test
for Lynch Syndrome.
Design:
- Participants will be asked to answer demographic questions. They will also have a 45- to
60-minute phone interview.
- During the phone interview, participants will be asked a series of questions about their
diagnosis. They will be asked about how they received the result and how they felt right
after receiving it. They will also discuss who they have spoken to about the result.
- Individuals have varying tolerances for receiving ambiguous information. However, not
much is known about how ambiguous genetic testing information is received. Also, not
much is known about how at-risk individuals internalize and process these results. More
information is needed about how this information affects a person s life.
- Lynch Syndrome is a genetic condition that carries a high risk of colon cancer and other
cancers. Individuals at risk for Lynch Syndrome can have genetic testing for it. The
test may confirm a diagnosis and determine actions that can be taken. Results from
genetic testing can also affect the perspectives of relatives who might also be
affected. However, genetic testing can also produce variants of unknown significance
(VUS). VUS are data that may not provide enough information to make decisions.
Researchers want to study people who have received a VUS result for genetic testing for
Lynch Syndrome.
Objectives:
- To learn more about the impact and experience of receiving a VUS for Lynch Syndrome genetic
testing.
Eligibility:
- Individuals at least 18 years of age who have recently had a VUS result on a genetic test
for Lynch Syndrome.
Design:
- Participants will be asked to answer demographic questions. They will also have a 45- to
60-minute phone interview.
- During the phone interview, participants will be asked a series of questions about their
diagnosis. They will be asked about how they received the result and how they felt right
after receiving it. They will also discuss who they have spoken to about the result.
In the field of cancer genetics, clinicians and patients have encountered challenges related
to the significance of unclassified genetic variants (UV) or variants of unknown significance
(VUS). As the field of medical genetics moves toward whole genome sequencing (WGS), these
challenges will inevitably become more frequent. VUS represent ambiguous and uncertain data,
for which pathogenicity has not been demonstrated or excluded in published literature,
mutation databases or on the basis of other clinical findings. Such variants present a
clinical interpretation challenge and also evoke new counseling dilemmas for the
understanding and psychosocial impact of uncertain genetic test results. This exploratory
study aims to seek insight into the psychological impact of receiving a VUS through
semi-structured interviews with 30 to 40 individuals who have received a VUS test result for
one of the Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer (HNPCC) mismatch repair
genes. The interviews will focus on the experience of receiving this result and any
cognitive, affective or behavioral effects related to the uncertainty of the result.
Interviews will be transcribed and subjected to thematic analysis to identify themes running
through the interviews. Understanding the impact of receiving a VUS may identify areas for
future intervention studies to minimize negative effects of these events. Additionally, these
data may contribute to the formulation of guidelines surrounding the consent for and
disclosure of VUS s for other diseases and ultimately for WGS.
to the significance of unclassified genetic variants (UV) or variants of unknown significance
(VUS). As the field of medical genetics moves toward whole genome sequencing (WGS), these
challenges will inevitably become more frequent. VUS represent ambiguous and uncertain data,
for which pathogenicity has not been demonstrated or excluded in published literature,
mutation databases or on the basis of other clinical findings. Such variants present a
clinical interpretation challenge and also evoke new counseling dilemmas for the
understanding and psychosocial impact of uncertain genetic test results. This exploratory
study aims to seek insight into the psychological impact of receiving a VUS through
semi-structured interviews with 30 to 40 individuals who have received a VUS test result for
one of the Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer (HNPCC) mismatch repair
genes. The interviews will focus on the experience of receiving this result and any
cognitive, affective or behavioral effects related to the uncertainty of the result.
Interviews will be transcribed and subjected to thematic analysis to identify themes running
through the interviews. Understanding the impact of receiving a VUS may identify areas for
future intervention studies to minimize negative effects of these events. Additionally, these
data may contribute to the formulation of guidelines surrounding the consent for and
disclosure of VUS s for other diseases and ultimately for WGS.
- INCLUSION AND EXCLUSION CRITERIA:
Individuals who have received a VUS for Lynch Syndrome must be over 18, have telephone
access and speak English. Individuals will be excluded if they ve received their results
less than 3 months earlier or more than 6 years ago.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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