A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

Completed

• Conditions: History of Cancer
• Interventions: Behavioral: qualitative interviews

• Registration Number: NCT01692223
• Lead Sponsor: Memorial Sloan Kettering Cancer Center

Brief Summary

This study uses new methods called "genome sequencing" that allow the investigators to study part or all of a person's genome. The genome is the collection of all of a person's genes. Genes carry the instructions that our bodies need to develop and function. Genes are passed on from one generation to the next. Genome sequencing can study all of a person's genome (whole genome sequencing) or just parts of their genome (whole exome sequencing). In the study, the investigators refer to all these research methods as 'genome sequencing'. Genome sequencing typically shows a large number of gene changes, known as "variants." Some (but not all) of these genetic variants may be linked to increased risks of diseases other than cancer.

The purpose of this study is to learn what kinds of genetic variants the patient wants to learn about from their genome.

Detailed Description

Not available

Study Timeline

• Study Start: 2012-09
• Study First Submitted: 2012-09-20
• Study First Submitted QC: 2012-09-20
• Study First Posted: 2012-09-25
• Status Verified: 2018-08
• Primary Completion: 2018-08
• Study Completion: 2018-08
• Last Update Submitted: 2018-08-01
• Last Update Posted: 2018-08-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

Cancer survivors (sample #1):

• Consented individuals with a personal history of cancer enrolled on protocols 09-068 or 96-051 who have indicated their interest in participating in future research or learning their results, defined as either:
• For samples #1-2: checking "yes" to the re-contact question in their consent form; or,
• checking "I wish to know these results" in their consent form.

Unaffected Relatives (sample #2):

• Consented individuals with no personal history of cancer enrolled on protocols 09-068 and 96-051 (parents or siblings of probands) who have indicated their interest in participating in future research or learning their results, defined as either:
• checking "yes" to the re-contact question in their consent form or,
• checking "I wish to know these results" in their consent form

Focus group participants (sample #3- hypothetical group):

• Individuals with or without a personal history of cancer

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Exclusion Criteria

• Non-English speakers; or,
• Individuals < 18 years of age; or
• Individuals unable to complete the follow-up assessments (e.g., unavailable to complete questionnaires over the 12-month study period).
• For samples #1-2: Individuals who indicate in their consent form that they do not want to
• checking "no" to the re-contact question in their consent form; or,
• checking "I prefer not to know these results" in their consent form
• Cases where it is unclear whether individuals' are interested in participating in future research or learning their results, defined as:
• Not answering the re-contact question in their consent form (i.e., left blank); or,
• Not answering the re-contact question because it did not exist in the version of the consent form that was originally signed (i.e., re-contact question missing).

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Pts with history of cancer	qualitative interviews	We will use a prospective, observational cohort design, we will invite a sample of individuals who have indicated willingness to be re-contacted for future studies (from existing protocols involving cancer survivors and their unaffected relatives employing mixed methods -qualitative interviews coupled with validated measures - to assess: the proportion of participants experiencing psychological distress from Whole genome/exome sequencing (WGS/WES) results.
Unaffected Relatives	qualitative interviews	We will use a prospective, observational cohort design, we will invite a sample of individuals who have indicated willingness to be re-contacted for future studies (from existing protocols involving cancer survivors and their unaffected relatives employing mixed methods -qualitative interviews coupled with validated measures - to assess: the proportion of participants experiencing psychological distress from Whole genome/exome sequencing (WGS/WES) results.
Participants whose genomes/exomes are not sequenced	qualitative interviews	We will also recruit an additional group of participants from the general public (with or without a cancer history) who have not had their genomes or exomes sequenced to participate in focus groups to inform us about their perceptions of the hypothetical utility of learning of incidental results from their genome or exomes. For our sampling purposes, this group of participants is referred to as the 'focus group participants (sample #3-hypothetical group)

Primary Outcome Measures

Name	Time	Method
Psychological distress	2 years	of receiving incidentally identified disease risk results from whole genome/exome sequencing. Safety is defined as no more than 20% of participants experiencing clinically meaningful levels of distress at 1 week follow-up, as measured by the Hospital Anxiety \& Depression Scale (HADS; score \> or = to 8 on the anxiety sub-scale). Patients will be considered evaluable for the primary outcome if they are not distressed at baseline and have completed the 1 week follow-up assessment.

Trial Locations

Locations (1)

Memorial Sloan-Kettering Cancer Center; 🇺🇸 New York, New York, United States