<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT01692223</url>
  </required_header>
  <id_info>
    <org_study_id>12-167</org_study_id>
    <nct_id>NCT01692223</nct_id>
  </id_info>
  <brief_title>A Safety Study Assessing the Effects of Receiving Genome Sequencing Results</brief_title>
  <official_title>Personal Genomics: A Safety Study Assessing the Effects of Receiving Genome Sequencing Results</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Memorial Sloan Kettering Cancer Center</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Memorial Sloan Kettering Cancer Center</source>
  <brief_summary>
    <textblock>
      This study uses new methods called &quot;genome sequencing&quot; that allow the investigators to study&#xD;
      part or all of a person's genome. The genome is the collection of all of a person's genes.&#xD;
      Genes carry the instructions that our bodies need to develop and function. Genes are passed&#xD;
      on from one generation to the next. Genome sequencing can study all of a person's genome&#xD;
      (whole genome sequencing) or just parts of their genome (whole exome sequencing). In the&#xD;
      study, the investigators refer to all these research methods as 'genome sequencing'. Genome&#xD;
      sequencing typically shows a large number of gene changes, known as &quot;variants.&quot; Some (but not&#xD;
      all) of these genetic variants may be linked to increased risks of diseases other than&#xD;
      cancer.&#xD;
&#xD;
      The purpose of this study is to learn what kinds of genetic variants the patient wants to&#xD;
      learn about from their genome.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>September 2012</start_date>
  <completion_date type="Actual">August 2018</completion_date>
  <primary_completion_date type="Actual">August 2018</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Psychological distress</measure>
    <time_frame>2 years</time_frame>
    <description>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 &amp; Depression Scale (HADS; score &gt; 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.</description>
  </primary_outcome>
  <number_of_groups>3</number_of_groups>
  <enrollment type="Actual">8</enrollment>
  <condition>History of Cancer</condition>
  <arm_group>
    <arm_group_label>Unaffected Relatives</arm_group_label>
    <description>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.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Pts with history of cancer</arm_group_label>
    <description>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.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Participants whose genomes/exomes are not sequenced</arm_group_label>
    <description>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)</description>
  </arm_group>
  <intervention>
    <intervention_type>Behavioral</intervention_type>
    <intervention_name>qualitative interviews</intervention_name>
    <description>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 &amp; Depression Scale (HADS), revised Impact of Events Scale (IES-R), &amp; a questionnaire about their health behaviors, to establish baseline distress levels &amp; health behaviors. A week later, participants will return to the Clinical Genetics Service to review their results with the genetics provider &amp; discuss resultant therapeutic &amp; management recommendations for the participants &amp; 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.</description>
    <arm_group_label>Participants whose genomes/exomes are not sequenced</arm_group_label>
    <arm_group_label>Pts with history of cancer</arm_group_label>
    <arm_group_label>Unaffected Relatives</arm_group_label>
    <other_name>(Continued from Intervention Description) The RSA will call each participant to assess changes in health behavior and</other_name>
    <other_name>service use at 3-,6- &amp; 12-month timepoints after the results session. Distress</other_name>
    <other_name>will also be re-assessed at 6 &amp; 12-month timepoints after the results session.</other_name>
    <other_name>The interviewer will call willing participants to complete an open-ended, in-depth</other_name>
    <other_name>qualitative interview, approximately 3 months after their results session.</other_name>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Participants will be recruited from cohorts of patients whose DNA samples are being examined&#xD;
      with WGS/WES as part of efforts to identify novel cancer susceptibility alleles. Participants&#xD;
      will be derived from the following protocols: 09-068 and 96-051.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Participants will be recruited from cohorts of patients whose DNA samples are being&#xD;
        examined with WGS/WES as part of efforts to identify novel cancer susceptibility alleles.&#xD;
        Participants will be derived from the following protocols: 09-068 and 96-051. We will also&#xD;
        recruit an additional group of participants (up to 100) from the general public (with or&#xD;
        without a cancer history) who have not had their genomes or exomes sequenced to participate&#xD;
        in focus groups to inform us about their perceptions of the hypothetical utility of&#xD;
        learning of incidental results from their genome or exomes.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Cancer survivors (sample #1):&#xD;
&#xD;
          -  Consented individuals with a personal history of cancer enrolled on protocols 09-068&#xD;
             or 96-051 who have indicated their interest in participating in future research or&#xD;
             learning their results, defined as either:&#xD;
&#xD;
          -  For samples #1-2: checking &quot;yes&quot; to the re-contact question in their consent form; or,&#xD;
&#xD;
          -  checking &quot;I wish to know these results&quot; in their consent form.&#xD;
&#xD;
        Unaffected Relatives (sample #2):&#xD;
&#xD;
          -  Consented individuals with no personal history of cancer enrolled on protocols 09-068&#xD;
             and 96-051 (parents or siblings of probands) who have indicated their interest in&#xD;
             participating in future research or learning their results, defined as either:&#xD;
&#xD;
          -  checking &quot;yes&quot; to the re-contact question in their consent form or,&#xD;
&#xD;
          -  checking &quot;I wish to know these results&quot; in their consent form&#xD;
&#xD;
        Focus group participants (sample #3- hypothetical group):&#xD;
&#xD;
          -  Individuals with or without a personal history of cancer&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Non-English speakers; or,&#xD;
&#xD;
          -  Individuals &lt; 18 years of age; or&#xD;
&#xD;
          -  Individuals unable to complete the follow-up assessments (e.g., unavailable to&#xD;
             complete questionnaires over the 12-month study period).&#xD;
&#xD;
          -  For samples #1-2: Individuals who indicate in their consent form that they do not want&#xD;
             to&#xD;
&#xD;
          -  checking &quot;no&quot; to the re-contact question in their consent form; or,&#xD;
&#xD;
          -  checking &quot;I prefer not to know these results&quot; in their consent form&#xD;
&#xD;
          -  Cases where it is unclear whether individuals' are interested in participating in&#xD;
             future research or learning their results, defined as:&#xD;
&#xD;
          -  Not answering the re-contact question in their consent form (i.e., left blank); or,&#xD;
&#xD;
          -  Not answering the re-contact question because it did not exist in the version of the&#xD;
             consent form that was originally signed (i.e., re-contact question missing).&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Mark Robson, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Memorial Sloan Kettering Cancer Center</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Memorial Sloan-Kettering Cancer Center</name>
      <address>
        <city>New York</city>
        <state>New York</state>
        <zip>10065</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>http://www.mskcc.org/</url>
    <description>Memorial Sloan-Kettering Cancer Center</description>
  </link>
  <verification_date>August 2018</verification_date>
  <study_first_submitted>September 20, 2012</study_first_submitted>
  <study_first_submitted_qc>September 20, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 25, 2012</study_first_posted>
  <last_update_submitted>August 1, 2018</last_update_submitted>
  <last_update_submitted_qc>August 1, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">August 2, 2018</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Personal genomics</keyword>
  <keyword>Genome Sequencing Results</keyword>
  <keyword>12-167</keyword>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT01692223
org study id: 12-167
nct id: NCT01692223
lead sponsor: 
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.
observational model: Family-Based
time perspective: Prospective
measure: Psychological distress
time frame: 2 years
description: 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.
arm group label: Unaffected Relatives
description: 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.
arm group label: Pts with history of cancer
description: 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.
arm group label: Participants whose genomes/exomes are not sequenced
description: 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)
intervention type: Behavioral
intervention name: qualitative interviews
description: 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.
arm group label: Participants whose genomes/exomes are not sequenced
arm group label: Pts with history of cancer
arm group label: Unaffected Relatives
other name: (Continued from Intervention Description) The RSA will call each participant to assess changes in health behavior and
other name: service use at 3-,6- & 12-month timepoints after the results session. Distress
other name: will also be re-assessed at 6 & 12-month timepoints after the results session.
other name: The interviewer will call willing participants to complete an open-ended, in-depth
other name: qualitative interview, approximately 3 months after their results session.
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.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Mark Robson, MD
role: Principal Investigator
affiliation: Memorial Sloan Kettering Cancer Center
facility: 
country: United States
url: http://www.mskcc.org/
description: Memorial Sloan-Kettering Cancer Center
responsible party type: Sponsor