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Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results


N/A
18 Years
N/A
Open (Enrolling)
Both
HNPCC

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Trial Information

Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results


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.

Inclusion Criteria


- 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.

Type of Study:

Observational

Study Design:

Time Perspective: Retrospective

Principal Investigator

Barbara B Biesecker

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Human Genome Research Institute (NHGRI)

Authority:

United States: Federal Government

Study ID:

999912126

NCT ID:

NCT01646112

Start Date:

April 2012

Completion Date:

Related Keywords:

  • HNPCC
  • Uncertainty
  • HNPCC
  • Lynch Syndrome
  • Genetic Tests
  • Colorectal Neoplasms, Hereditary Nonpolyposis

Name

Location

National Human Genome Research Institute (NHGRI), 9000 Rockville PikeBethesda, Maryland  20892