Uncertain Genetic Test Results for Lynch Syndrome

NCT ID: NCT01646112

Last Updated: 2019-12-17

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 27 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-04-25
• Study Completion Date: 2016-02-05

Brief Summary

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.

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.

Conditions

HNPCC

Keywords

Uncertainty; HNPCC; Lynch Syndrome; Genetic Tests

Study Design

• Study Time Perspective: RETROSPECTIVE

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Barbara B Biesecker

Role: PRINCIPAL_INVESTIGATOR

National Human Genome Research Institute (NHGRI)

Locations

National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Bethesda, Maryland, United States

Countries

United States

References

Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. doi: 10.1086/375033. Epub 2003 Apr 3.

Reference Type: BACKGROUND

PMID: 12677558 (View on PubMed)

Kresse A, Jacobowitz DM, Skofitsch G. Distribution of calcitonin gene-related peptide in the central nervous system of the rat by immunocytochemistry and in situ hybridization histochemistry. Ann N Y Acad Sci. 1992 Jun 30;657:455-7. doi: 10.1111/j.1749-6632.1992.tb22798.x. No abstract available.

Reference Type: BACKGROUND

PMID: 1637098 (View on PubMed)

Boks DE, Trujillo AP, Voogd AC, Morreau H, Kenter GG, Vasen HF. Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer. 2002 Nov 10;102(2):198-200. doi: 10.1002/ijc.10667.

Reference Type: BACKGROUND

PMID: 12385019 (View on PubMed)

Other Identifiers

12-HG-N126

Identifier Type: -

Identifier Source: secondary_id

999912126

Identifier Type: -

Identifier Source: org_study_id