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NCT01646112

Uncertain Genetic Test Results for Lynch Syndrome

Completed Last updated 17 December 2019
What this trial tests

trial in HNPCC in 27 participants. Completed in 5 February 2016.

Timeline
25 April 2012
5 February 2016

Quick facts

Lead sponsorNational Human Genome Research Institute (NHGRI)
StatusCompleted
Study typeOBSERVATIONAL
Enrollment27
Start date25 April 2012
Estimated completion5 February 2016
Sites1 location across United States

Conditions studied

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 18 to 100, any sex, with HNPCC. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.

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Other recruiting trials for HNPCC

Currently open trials in the same condition.

Other National Human Genome Research Institute (NHGRI) trials

Trials by the same sponsor.

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Data sources for this page

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