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Uncertain Genetic Test Results for Lynch Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01646112
Recruitment Status : Completed
First Posted : July 20, 2012
Last Update Posted : September 18, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:


  • 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.

Condition or disease

Detailed Description:
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.

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Study Type : Observational
Actual Enrollment : 27 participants
Time Perspective: Retrospective
Official Title: Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results
Study Start Date : April 25, 2012
Study Completion Date : February 5, 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Genetic Testing

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01646112

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United States, Maryland
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
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Principal Investigator: Barbara B Biesecker National Human Genome Research Institute (NHGRI)

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Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01646112     History of Changes
Other Study ID Numbers: 999912126
First Posted: July 20, 2012    Key Record Dates
Last Update Posted: September 18, 2019
Last Verified: February 5, 2016
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Lynch Syndrome
Genetic Tests
Additional relevant MeSH terms:
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Digestive System Diseases
Gastrointestinal Diseases
Colonic Diseases
Intestinal Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Colorectal Neoplasms, Hereditary Nonpolyposis
Colorectal Neoplasms
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Neoplastic Syndromes, Hereditary