Clinical trial NCT01692223: A Safety Study Assessing the Effects of Receiving Genome Sequencing Results
Official title: Personal Genomics: A Safety Study Assessing the Effects of Receiving Genome Sequencing Results
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: History of Cancer
Keywords: Personal genomics
Genome Sequencing Results
12-167
Lead sponsor: Memorial Sloan Kettering Cancer Center
Sponsor class: OTHER
First posted: 2012-09-25
Enrollment: 8
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants will be recruited from cohorts of patients whose DNA samples are being examined with WGS/WES as part of efforts to identify novel cancer susceptibility alleles. Participants will be derived from the following protocols: 09-068 and 96-051. We will also recruit an additional group of participants (up to 100) 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.

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.


Eligibility criteria: 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

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).

Primary outcomes:
measure: Psychological distress
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Memorial Sloan-Kettering Cancer Center
state: New York
Study officials:
affiliation: Memorial Sloan Kettering Cancer Center
name: Mark Robson, MD
role: PRINCIPAL_INVESTIGATOR
References: