A Safety Study Assessing the Effects of Receiving Genome Sequencing Results - Full Text View

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:

MedlinePlus related topics: Cancer Healthy Living

U.S. FDA Resources

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:	100
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 100 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 100 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.

Groups/Cohorts

Assigned Interventions

Unaffected Relatives

We will use a prospective, observational cohort design, we will invite a sample of 100 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 100 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.

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.

Criteria

Inclusion Criteria:

Cancer survivors:

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:
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:

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

Exclusion Criteria:

Non-English speakers; or,
Individuals < 18 years of age; or
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

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:

Memorial Sloan-Kettering Cancer Center This link exits the ClinicalTrials.gov site

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:	January 28, 2013
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 May 23, 2013