Uncertain Genetic Test Results for Lynch Syndrome
- 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.
- To learn more about the impact and experience of receiving a VUS for Lynch Syndrome genetic testing.
- Individuals at least 18 years of age who have recently had a VUS result on a genetic test for Lynch Syndrome.
- 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.
|Study Design:||Time Perspective: Retrospective|
|Official Title:||Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results|
|Study Start Date:||April 25, 2012|
|Estimated Study Completion Date:||February 5, 2016|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01646112
|United States, Maryland|
|National Human Genome Research Institute (NHGRI), 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Barbara B Biesecker||National Human Genome Research Institute (NHGRI)|