A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

This study is enrolling participants by invitation only.
Sponsor:
Information provided by (Responsible Party):
Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier:
NCT01692223
First received: September 20, 2012
Last updated: February 6, 2014
Last verified: February 2014
  Purpose

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.


Condition Intervention
History of Cancer
Behavioral: qualitative interviews

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Personal Genomics: A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

Resource links provided by NLM:


Further study details as provided by Memorial Sloan-Kettering Cancer Center:

Primary Outcome Measures:
  • Psychological distress [ Time Frame: 2 years ] [ Designated as safety issue: Yes ]
    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.


Biospecimen Retention:   Samples With DNA

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.


Estimated Enrollment: 200
Study Start Date: September 2012
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Unaffected Relatives
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.
Behavioral: qualitative interviews
A week before the participants return to the clinic to learn of their results, the RSA will call each participant to complete the Hospital Anxiety & Depression Scale (HADS), revised Impact of Events Scale (IES-R), & a questionnaire about their health behaviors, to establish baseline distress levels & health behaviors. A week later, participants will return to the Clinical Genetics Service to review their results with the genetics provider & discuss resultant therapeutic & management recommendations for the participants & their relatives. A week later, the RSA will call each participant to complete the HADS, IES-R again, to establish the safety of receiving these results. Participants will also be asked to complete the revised Multidimensional Impact of Cancer Risk Assessment (MICRA) measure. The RSA will also invite participants to complete an in-depth telephone interview.
Other Names:
  • (Continued from Intervention Description) The RSA will call each participant to assess changes in health behavior and
  • service use at 3-,6- & 12-month timepoints after the results session. Distress
  • will also be re-assessed at 6 & 12-month timepoints after the results session.
  • The interviewer will call willing participants to complete an open-ended, in-depth
  • qualitative interview, approximately 3 months after their results session.
Pts with history of cancer
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.
Behavioral: qualitative interviews
A week before the participants return to the clinic to learn of their results, the RSA will call each participant to complete the Hospital Anxiety & Depression Scale (HADS), revised Impact of Events Scale (IES-R), & a questionnaire about their health behaviors, to establish baseline distress levels & health behaviors. A week later, participants will return to the Clinical Genetics Service to review their results with the genetics provider & discuss resultant therapeutic & management recommendations for the participants & their relatives. A week later, the RSA will call each participant to complete the HADS, IES-R again, to establish the safety of receiving these results. Participants will also be asked to complete the revised Multidimensional Impact of Cancer Risk Assessment (MICRA) measure. The RSA will also invite participants to complete an in-depth telephone interview.
Other Names:
  • (Continued from Intervention Description) The RSA will call each participant to assess changes in health behavior and
  • service use at 3-,6- & 12-month timepoints after the results session. Distress
  • will also be re-assessed at 6 & 12-month timepoints after the results session.
  • The interviewer will call willing participants to complete an open-ended, in-depth
  • qualitative interview, approximately 3 months after their results session.
Participants whose genomes/exomes are not sequenced
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)
Behavioral: qualitative interviews
A week before the participants return to the clinic to learn of their results, the RSA will call each participant to complete the Hospital Anxiety & Depression Scale (HADS), revised Impact of Events Scale (IES-R), & a questionnaire about their health behaviors, to establish baseline distress levels & health behaviors. A week later, participants will return to the Clinical Genetics Service to review their results with the genetics provider & discuss resultant therapeutic & management recommendations for the participants & their relatives. A week later, the RSA will call each participant to complete the HADS, IES-R again, to establish the safety of receiving these results. Participants will also be asked to complete the revised Multidimensional Impact of Cancer Risk Assessment (MICRA) measure. The RSA will also invite participants to complete an in-depth telephone interview.
Other Names:
  • (Continued from Intervention Description) The RSA will call each participant to assess changes in health behavior and
  • service use at 3-,6- & 12-month timepoints after the results session. Distress
  • will also be re-assessed at 6 & 12-month timepoints after the results session.
  • The interviewer will call willing participants to complete an open-ended, in-depth
  • qualitative interview, approximately 3 months after their results session.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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.

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).
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01692223

Locations
United States, New York
Memorial Sloan-Kettering Cancer Center
New York, New York, United States, 10065
Sponsors and Collaborators
Memorial Sloan-Kettering Cancer Center
Investigators
Principal Investigator: Mark Robson, MD Memorial Sloan-Kettering Cancer Center
  More Information

Additional Information:
No publications provided

Responsible Party: Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier: NCT01692223     History of Changes
Other Study ID Numbers: 12-167
Study First Received: September 20, 2012
Last Updated: February 6, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Memorial Sloan-Kettering Cancer Center:
Personal genomics
Genome Sequencing Results
12-167

ClinicalTrials.gov processed this record on August 28, 2014