<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/NCT03832985</url>
  </required_header>
  <id_info>
    <org_study_id>2018-0419</org_study_id>
    <secondary_id>1R01HG009671-01A1</secondary_id>
    <nct_id>NCT03832985</nct_id>
  </id_info>
  <brief_title>Pediatric Reporting of Adult-Onset Genomic Results</brief_title>
  <official_title>Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Geisinger Clinic</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>National Human Genome Research Institute (NHGRI)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
  </sponsors>
  <source>Geisinger Clinic</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary&#xD;
      and secondary psychosocial outcomes among 705 MyCode pediatric participants and their&#xD;
      parents, and health behaviors of parents whose children receive an adult- or pediatric-onset&#xD;
      genomic result. Data will be gathered via quantitative surveys using validated measures of&#xD;
      distress, family functioning, quality of life, body image, perceived cancer/heart disease&#xD;
      risk, genetic counseling satisfaction, genomics knowledge, and adjustment to genetic&#xD;
      information; qualitative interviews with adolescents and parents; and electronic health&#xD;
      records review of parents' cascade testing uptake and initiation of risk reduction behaviors.&#xD;
      The investigators will also conduct empirical and theoretical legal research to examine the&#xD;
      loss of chance doctrine and its applicability to genomic research.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The Investigators propose a longitudinal, observational cohort study using mixed methods to&#xD;
      compare change in psychosocial outcomes and health behaviors among three study groups of&#xD;
      pediatric MyCode participants and their parents:&#xD;
&#xD;
        1. Group 1 - those with a pathogenic variant in a gene associated with adult onset of&#xD;
           disease (n=17 adolescents, 50 parents)&#xD;
&#xD;
        2. Group 2 - those with a pathogenic variant in a gene associated with pediatric onset of&#xD;
           disease or with risk reduction interventions that begin in childhood (n=53 adolescents,&#xD;
           160 parents)&#xD;
&#xD;
        3. Group 3 - those who do not receive a genomic result (n=105 adolescents, 320 parents)&#xD;
&#xD;
      The Investigators will use the current existing MyCode list of actionable genes designated as&#xD;
      actionable by the American College of Medical Genetics and Genomics. Parents of pediatric&#xD;
      MyCode participants will be offered the opportunity to participate in the study prior to&#xD;
      learning to which group they belong. Consistent with Geisinger policy, children ages 7-17&#xD;
      will be asked to give assent to participate. If a child does not want to assent to&#xD;
      participate, he or she will not be enrolled into the study (regardless of their parents'&#xD;
      preference regarding enrollment). Parents of children who do not give assent will be&#xD;
      ineligible to participate. Parents who decline participation when their child is suspected to&#xD;
      have a pathogenic adult-onset result will have their child's sample held for clinical&#xD;
      confirmation until the child reaches age 18 years. Parents who decline participation when&#xD;
      their child is suspected to have a pathogenic pediatric-onset result will proceed to clinical&#xD;
      confirmation of the result and, if confirmed, follow the established clinical return&#xD;
      procedure. This recruitment approach is consistent with the MyCode philosophy of notifying&#xD;
      participants of actionable findings. Parent-participants will be asked to assess psychosocial&#xD;
      outcomes for themselves and for their children. Consistent with co-investigator Angela&#xD;
      Bradbury's research on the experience of adolescent girls from families at increased risk for&#xD;
      breast cancer, pediatric participants ages 11-17 years at enrollment (i.e., adolescents) will&#xD;
      also participate in quantitative surveys and qualitative interviews.&#xD;
&#xD;
      Psychosocial variables such as anxiety and depression will be assessed among parents and&#xD;
      adolescents at enrollment (T1), after which those suspected of having a pathogenic variant&#xD;
      will proceed to clinical confirmation of that variant. Those whose variant is confirmed&#xD;
      clinically as pathogenic or likely pathogenic will then be scheduled for a disclosure&#xD;
      appointment. These appointments will be conducted by a genetic counselor and psychologist,&#xD;
      who will perform psychosocial assessment, conduct therapeutic consults as needed, and conduct&#xD;
      periodic psychosocial assessments of adolescent participants with adult-onset results.&#xD;
      Participants with suspected pathogenic variants that are not confirmed clinically and&#xD;
      participants without a suspected pathogenic variant will be scheduled for a study visit to&#xD;
      notify them of their group status and remind them to follow up with their pediatrician if&#xD;
      they have significant personal or family history of cancer or heart disease.&#xD;
&#xD;
      Validated surveys will be used to measure outcomes in each study group at 1 month (T3), 6&#xD;
      months (T4) and 12 months (T5) post-disclosure visit. The investigators will conduct&#xD;
      qualitative interviews with a subset of at least 45 participants in each of the two study&#xD;
      groups who receive a genomic result to better understand the lived experience of adolescents&#xD;
      with an actionable genomic finding and their parents. Data collection will continue after the&#xD;
      grant funding ends because of Geisinger Research Division's commitment to following the study&#xD;
      cohort. To address the legal specific aim, Dr. Wagner will lead the study team's legal&#xD;
      experts in examining and monitoring the loss of chance doctrine in medical malpractice cases&#xD;
      in federal and state courts across the United States and in monitoring legislative&#xD;
      developments relating to the loss of chance doctrine as it applies to returning adult-onset&#xD;
      genomic results to children.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">November 25, 2020</start_date>
  <completion_date type="Anticipated">June 30, 2024</completion_date>
  <primary_completion_date type="Anticipated">June 30, 2024</primary_completion_date>
  <phase>Early Phase 1</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <intervention_model_description>The study sample will be drawn from all pediatric MyCode participants (ages 0-17 years). At least one parent will be enrolled for each pediatric participant. Parents of children ages 0-10 years at enrollment will participate in data collection; parents of children ages 11-17 years at enrollment and their children will participate in data collection. Group 3 participants will be frequency matched to Groups 1 and 2 participants on age and sex.&#xD;
Individuals who have already had genetic counseling for any of the MyCode target conditions as part of their routine clinical care will be excluded to avoid confounding study findings.&#xD;
Quantitative data collection will be on 705 (530 parents and 175 adolescents).</intervention_model_description>
    <primary_purpose>Health Services Research</primary_purpose>
    <masking>None (Open Label)</masking>
    <masking_description>No one is prevented from having knowledge of this project.</masking_description>
  </study_design_info>
  <primary_outcome>
    <measure>The Hospital Anxiety and Depression Scale (HADS)</measure>
    <time_frame>Baseline, 1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>The General Functioning 12-item subscale (GF12) of The McMaster Family Assessment Device (FAD)</measure>
    <time_frame>Baseline, 1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed.&#xD;
The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Health-Related Quality of Life (HRQOL)</measure>
    <time_frame>Baseline, 1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.&#xD;
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Uptake of cascade testing</measure>
    <time_frame>12 months post-disclosure to pediatric proband</time_frame>
    <description>Uptake of cascade testing (yes/no) among parents.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Initiation of risk reduction behavior</measure>
    <time_frame>12 months post-disclosure to pediatric proband</time_frame>
    <description>Initiation of risk reduction behavior (yes/no) among parents with familial gene variant.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Body Image instrument</measure>
    <time_frame>Baseline, 1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>Change in adolescents' body image measured using the Body image instrument.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Self-Esteem Scale</measure>
    <time_frame>Baseline, 1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>The Self-Esteem Scale is made up on 10 items to measure self-esteem. Scoring involves a method of combined ratings. Low self-esteem responses are &quot;disagree&quot; or &quot;strongly disagree&quot; on items 1, 3, 4, 7, 10, and &quot;strongly agree&quot; or &quot;agree&quot; on items 2, 5, 6, 8, 9. Two or three out of three correct responses to items 3, 7, and 9 are scored as one item. One or two out of two correct responses for items 4 and 5 are considered as a single item; items 1,8, and 10 are scored as individual items; and combined correct responses (one or two out of two) to items 2 and 6 are considered to be a single item.&#xD;
The scale can also be scored by totaling the individual 4-point items after reverse-scoring the negatively worded items.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Decision Regret scale</measure>
    <time_frame>1 &amp; 12 months post-disclosure</time_frame>
    <description>The Decision Regret Scale is made up of 5 items that address the notion of regret in a variety of ways. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items.&#xD;
The total score is taken from the mean of the 5 items.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Genetic Counseling Satisfaction Scale (GCSS)</measure>
    <time_frame>1 month post-disclosure</time_frame>
    <description>The GCSS is a 6-item Likert scale that assesses participant satisfaction with the process and content of genetic counseling. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items.&#xD;
The total score is taken from the mean of the 6 items.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Children's Revised Impact of Events scale</measure>
    <time_frame>1, 6, &amp;12 months post-disclosure</time_frame>
    <description>The CRIES is a 13-item scale developed as a screening instrument for children at risk of developing PTSD after experiencing a traumatic event. It includes four items measuring intrusion, four items measuring avoidance and five items measuring arousal. Each item is rated on a four-point scale (Not at all, Rarely, Sometimes, Often), scored 0, 1, 3, 5 with no reversed items. The total score indicates the severity of a child's posttraumatic stress reactions with a range from 0 to 65.&#xD;
A score of 30 and above has been confirmed as the most effective cut-off score for screening cases of PTSD</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Psychological Adaptation to Genetic Information scale (PAGIS)</measure>
    <time_frame>1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>This scale consists of both positively and negatively worded statements that are rated on a 1-6 Likert scale (from 1 for strongly disagree to 6 for strongly agree). The respondent's overall health and health of the affected child (where applicable) is assessed using 5-point likert type items.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Health Education Impact Questionnaire (heiQ)</measure>
    <time_frame>1, 6, &amp; 12 months post-disclosure</time_frame>
    <description>The Self-Monitoring and Insight scale captures an individuals' ability to monitor their condition, and their physical and or emotional responses that leads to insight and appropriate action/s to self-manage. It is made up of 7 items, scored by summing item responses and dividing by the number of scale items Scoring is done on a 4-point scale (from 1 for strongly disagree to 4 for strongly agree).&#xD;
The Health Services Navigation scale aims to capture the positive impact of social engagement and support that evolves through interaction with others and the impact may arise from interaction with others sharing similar health-related life experiences.&#xD;
It is made up of 5 items, scored by summing item responses and dividing by the number of scale items Scoring is done on a 4-point scale (from 1 for strongly disagree to 4 for strongly agree).</description>
  </secondary_outcome>
  <number_of_arms>3</number_of_arms>
  <enrollment type="Actual">427</enrollment>
  <condition>Hereditary Breast and Ovarian Cancer Syndrome</condition>
  <condition>Lynch Syndrome</condition>
  <condition>Familial Hypercholesterolemia</condition>
  <arm_group>
    <arm_group_label>Receive an adult-onset result</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Compare change in psychosocial outcomes and health behaviors of those with a pathogenic variant in a gene associated with adult onset of disease.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Receive a pediatric-onset result</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Compare change in psychosocial outcomes and health behaviors of those with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Control - No result</arm_group_label>
    <arm_group_type>Active Comparator</arm_group_type>
    <description>Compare change in psychosocial outcomes and health behaviors of those without a genomic result.</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Receive an adult-onset result</intervention_name>
    <description>Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.</description>
    <arm_group_label>Receive an adult-onset result</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Receive a pediatric-onset result</intervention_name>
    <description>Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.</description>
    <arm_group_label>Receive a pediatric-onset result</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Control - No Result</intervention_name>
    <description>Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have not received an adult-onset genomic result.</description>
    <arm_group_label>Control - No result</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Any pediatric MyCode participant (ages 0-17) OR&#xD;
&#xD;
          -  Parent of a pediatric MyCode participant who has given assent to participate in this&#xD;
             study.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Individuals who have already had genetic counseling for any of the actionable target&#xD;
             conditions as part of their routine clinical care.&#xD;
&#xD;
          -  Individuals who have already had genetic counseling for any of the actionable target&#xD;
             conditions through their participation in another research study.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Adam H Buchanan, MS, MPH, CGC</last_name>
    <role>Principal Investigator</role>
    <affiliation>Geisinger - Genomic Medicine Institute</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Geisinger</name>
      <address>
        <city>Danville</city>
        <state>Pennsylvania</state>
        <zip>17822</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
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  <verification_date>July 2023</verification_date>
  <study_first_submitted>February 4, 2019</study_first_submitted>
  <study_first_submitted_qc>February 5, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">February 6, 2019</study_first_posted>
  <last_update_submitted>July 24, 2023</last_update_submitted>
  <last_update_submitted_qc>July 24, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">July 27, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Geisinger Clinic</investigator_affiliation>
    <investigator_full_name>Adam Buchanan</investigator_full_name>
    <investigator_title>Assistant Professor</investigator_title>
  </responsible_party>
  <keyword>adult-onset</keyword>
  <keyword>pediatric</keyword>
  <keyword>genomic</keyword>
  <keyword>genetic</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Colorectal Neoplasms, Hereditary Nonpolyposis</mesh_term>
    <mesh_term>Hereditary Breast and Ovarian Cancer Syndrome</mesh_term>
    <mesh_term>Hyperlipoproteinemia Type II</mesh_term>
    <mesh_term>Hypercholesterolemia</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>As part of his/her responsibilities for the proposed study, the Geisinger Data Broker will work under the guidance of Dr. Kirchner to prepare a cleaned, de-identified copy of each quantitative data set used to support each publication that derives from the study. Data will be stripped of identifiers according to the Safe Harbor method of de-identification (https://www.hhs.gov/hipaa/for-professionals/privacy/special-topics/de-identification/index.html).&#xD;
These data and related information (participant flow, baseline characteristics, outcome measures and statistical analyses) will then be uploaded to ClinicalTrials.gov within four weeks of acceptance of the corresponding publication. If applicable, the Data Broker will work with the project manager to upload data on adverse events to ClinicalTrials.gov on the same time schedule.</ipd_description>
    <ipd_info_type>Study Protocol</ipd_info_type>
    <ipd_info_type>Statistical Analysis Plan (SAP)</ipd_info_type>
    <ipd_info_type>Informed Consent Form (ICF)</ipd_info_type>
    <ipd_info_type>Analytic Code</ipd_info_type>
    <ipd_time_frame>Within four weeks of acceptance of the corresponding publication.</ipd_time_frame>
  </patient_data>
  <provided_document_section>
    <provided_document>
      <document_type>Informed Consent Form</document_type>
      <document_has_protocol>No</document_has_protocol>
      <document_has_icf>Yes</document_has_icf>
      <document_has_sap>No</document_has_sap>
      <document_date>March 11, 2022</document_date>
      <document_url>https://ClinicalTrials.gov/ProvidedDocs/85/NCT03832985/ICF_000.pdf</document_url>
    </provided_document>
  </provided_document_section>
  <!-- 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/NCT03832985
org study id: 2018-0419
secondary id: 1R01HG009671-01A1
nct id: NCT03832985
lead sponsor: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary
      and secondary psychosocial outcomes among 705 MyCode pediatric participants and their
      parents, and health behaviors of parents whose children receive an adult- or pediatric-onset
      genomic result. Data will be gathered via quantitative surveys using validated measures of
      distress, family functioning, quality of life, body image, perceived cancer/heart disease
      risk, genetic counseling satisfaction, genomics knowledge, and adjustment to genetic
      information; qualitative interviews with adolescents and parents; and electronic health
      records review of parents' cascade testing uptake and initiation of risk reduction behaviors.
      The investigators will also conduct empirical and theoretical legal research to examine the
      loss of chance doctrine and its applicability to genomic research.
The Investigators propose a longitudinal, observational cohort study using mixed methods to
      compare change in psychosocial outcomes and health behaviors among three study groups of
      pediatric MyCode participants and their parents:

        1. Group 1 - those with a pathogenic variant in a gene associated with adult onset of
           disease (n=17 adolescents, 50 parents)

        2. Group 2 - those with a pathogenic variant in a gene associated with pediatric onset of
           disease or with risk reduction interventions that begin in childhood (n=53 adolescents,
           160 parents)

        3. Group 3 - those who do not receive a genomic result (n=105 adolescents, 320 parents)

      The Investigators will use the current existing MyCode list of actionable genes designated as
      actionable by the American College of Medical Genetics and Genomics. Parents of pediatric
      MyCode participants will be offered the opportunity to participate in the study prior to
      learning to which group they belong. Consistent with Geisinger policy, children ages 7-17
      will be asked to give assent to participate. If a child does not want to assent to
      participate, he or she will not be enrolled into the study (regardless of their parents'
      preference regarding enrollment). Parents of children who do not give assent will be
      ineligible to participate. Parents who decline participation when their child is suspected to
      have a pathogenic adult-onset result will have their child's sample held for clinical
      confirmation until the child reaches age 18 years. Parents who decline participation when
      their child is suspected to have a pathogenic pediatric-onset result will proceed to clinical
      confirmation of the result and, if confirmed, follow the established clinical return
      procedure. This recruitment approach is consistent with the MyCode philosophy of notifying
      participants of actionable findings. Parent-participants will be asked to assess psychosocial
      outcomes for themselves and for their children. Consistent with co-investigator Angela
      Bradbury's research on the experience of adolescent girls from families at increased risk for
      breast cancer, pediatric participants ages 11-17 years at enrollment (i.e., adolescents) will
      also participate in quantitative surveys and qualitative interviews.

      Psychosocial variables such as anxiety and depression will be assessed among parents and
      adolescents at enrollment (T1), after which those suspected of having a pathogenic variant
      will proceed to clinical confirmation of that variant. Those whose variant is confirmed
      clinically as pathogenic or likely pathogenic will then be scheduled for a disclosure
      appointment. These appointments will be conducted by a genetic counselor and psychologist,
      who will perform psychosocial assessment, conduct therapeutic consults as needed, and conduct
      periodic psychosocial assessments of adolescent participants with adult-onset results.
      Participants with suspected pathogenic variants that are not confirmed clinically and
      participants without a suspected pathogenic variant will be scheduled for a study visit to
      notify them of their group status and remind them to follow up with their pediatrician if
      they have significant personal or family history of cancer or heart disease.

      Validated surveys will be used to measure outcomes in each study group at 1 month (T3), 6
      months (T4) and 12 months (T5) post-disclosure visit. The investigators will conduct
      qualitative interviews with a subset of at least 45 participants in each of the two study
      groups who receive a genomic result to better understand the lived experience of adolescents
      with an actionable genomic finding and their parents. Data collection will continue after the
      grant funding ends because of Geisinger Research Division's commitment to following the study
      cohort. To address the legal specific aim, Dr. Wagner will lead the study team's legal
      experts in examining and monitoring the loss of chance doctrine in medical malpractice cases
      in federal and state courts across the United States and in monitoring legislative
      developments relating to the loss of chance doctrine as it applies to returning adult-onset
      genomic results to children.
allocation: Non-Randomized
intervention model: Parallel Assignment
intervention model description: The study sample will be drawn from all pediatric MyCode participants (ages 0-17 years). At least one parent will be enrolled for each pediatric participant. Parents of children ages 0-10 years at enrollment will participate in data collection; parents of children ages 11-17 years at enrollment and their children will participate in data collection. Group 3 participants will be frequency matched to Groups 1 and 2 participants on age and sex.
Individuals who have already had genetic counseling for any of the MyCode target conditions as part of their routine clinical care will be excluded to avoid confounding study findings.
Quantitative data collection will be on 705 (530 parents and 175 adolescents).
primary purpose: Health Services Research
masking: None (Open Label)
masking description: No one is prevented from having knowledge of this project.
measure: The Hospital Anxiety and Depression Scale (HADS)
time frame: Baseline, 1, 6, & 12 months post-disclosure
description: The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases.
measure: The General Functioning 12-item subscale (GF12) of The McMaster Family Assessment Device (FAD)
time frame: Baseline, 1, 6, & 12 months post-disclosure
description: The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed.
The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
measure: Health-Related Quality of Life (HRQOL)
time frame: Baseline, 1, 6, & 12 months post-disclosure
description: Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days.
measure: Uptake of cascade testing
time frame: 12 months post-disclosure to pediatric proband
description: Uptake of cascade testing (yes/no) among parents.
measure: Initiation of risk reduction behavior
time frame: 12 months post-disclosure to pediatric proband
description: Initiation of risk reduction behavior (yes/no) among parents with familial gene variant.
measure: Body Image instrument
time frame: Baseline, 1, 6, & 12 months post-disclosure
description: Change in adolescents' body image measured using the Body image instrument.
measure: Self-Esteem Scale
time frame: Baseline, 1, 6, & 12 months post-disclosure
description: The Self-Esteem Scale is made up on 10 items to measure self-esteem. Scoring involves a method of combined ratings. Low self-esteem responses are "disagree" or "strongly disagree" on items 1, 3, 4, 7, 10, and "strongly agree" or "agree" on items 2, 5, 6, 8, 9. Two or three out of three correct responses to items 3, 7, and 9 are scored as one item. One or two out of two correct responses for items 4 and 5 are considered as a single item; items 1,8, and 10 are scored as individual items; and combined correct responses (one or two out of two) to items 2 and 6 are considered to be a single item.
The scale can also be scored by totaling the individual 4-point items after reverse-scoring the negatively worded items.
measure: Decision Regret scale
time frame: 1 & 12 months post-disclosure
description: The Decision Regret Scale is made up of 5 items that address the notion of regret in a variety of ways. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items.
The total score is taken from the mean of the 5 items.
measure: Genetic Counseling Satisfaction Scale (GCSS)
time frame: 1 month post-disclosure
description: The GCSS is a 6-item Likert scale that assesses participant satisfaction with the process and content of genetic counseling. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items.
The total score is taken from the mean of the 6 items.
measure: Children's Revised Impact of Events scale
time frame: 1, 6, &12 months post-disclosure
description: The CRIES is a 13-item scale developed as a screening instrument for children at risk of developing PTSD after experiencing a traumatic event. It includes four items measuring intrusion, four items measuring avoidance and five items measuring arousal. Each item is rated on a four-point scale (Not at all, Rarely, Sometimes, Often), scored 0, 1, 3, 5 with no reversed items. The total score indicates the severity of a child's posttraumatic stress reactions with a range from 0 to 65.
A score of 30 and above has been confirmed as the most effective cut-off score for screening cases of PTSD
measure: Psychological Adaptation to Genetic Information scale (PAGIS)
time frame: 1, 6, & 12 months post-disclosure
description: This scale consists of both positively and negatively worded statements that are rated on a 1-6 Likert scale (from 1 for strongly disagree to 6 for strongly agree). The respondent's overall health and health of the affected child (where applicable) is assessed using 5-point likert type items.
measure: Health Education Impact Questionnaire (heiQ)
time frame: 1, 6, & 12 months post-disclosure
description: The Self-Monitoring and Insight scale captures an individuals' ability to monitor their condition, and their physical and or emotional responses that leads to insight and appropriate action/s to self-manage. It is made up of 7 items, scored by summing item responses and dividing by the number of scale items Scoring is done on a 4-point scale (from 1 for strongly disagree to 4 for strongly agree).
The Health Services Navigation scale aims to capture the positive impact of social engagement and support that evolves through interaction with others and the impact may arise from interaction with others sharing similar health-related life experiences.
It is made up of 5 items, scored by summing item responses and dividing by the number of scale items Scoring is done on a 4-point scale (from 1 for strongly disagree to 4 for strongly agree).
arm group label: Receive an adult-onset result
arm group type: Experimental
description: Compare change in psychosocial outcomes and health behaviors of those with a pathogenic variant in a gene associated with adult onset of disease.
arm group label: Receive a pediatric-onset result
arm group type: Experimental
description: Compare change in psychosocial outcomes and health behaviors of those with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood.
arm group label: Control - No result
arm group type: Active Comparator
description: Compare change in psychosocial outcomes and health behaviors of those without a genomic result.
intervention type: Genetic
intervention name: Receive an adult-onset result
description: Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.
arm group label: Receive an adult-onset result
intervention type: Genetic
intervention name: Receive a pediatric-onset result
description: Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.
arm group label: Receive a pediatric-onset result
intervention type: Genetic
intervention name: Control - No Result
description: Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have not received an adult-onset genomic result.
arm group label: Control - No result
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Adam H Buchanan, MS, MPH, CGC
role: Principal Investigator
affiliation: Geisinger - Genomic Medicine Institute
facility: 
country: United States
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PMID: 11832252
citation: Boterhoven de Haan KL, Hafekost J, Lawrence D, Sawyer MG, Zubrick SR. Reliability and validity of a short version of the general functioning subscale of the McMaster Family Assessment Device. Fam Process. 2015 Mar;54(1):116-23. doi: 10.1111/famp.12113. Epub 2014 Nov 11.
PMID: 25385473
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PMID: 12926578
citation: DeMarco TA, Peshkin BN, Mars BD, Tercyak KP. Patient satisfaction with cancer genetic counseling: a psychometric analysis of the Genetic Counseling Satisfaction Scale. J Genet Couns. 2004 Aug;13(4):293-304. doi: 10.1023/b:jogc.0000035523.96133.bc.
PMID: 19736695
citation: Bond FW, Hayes SC, Baer RA, Carpenter KM, Guenole N, Orcutt HK, Waltz T, Zettle RD. Preliminary psychometric properties of the Acceptance and Action Questionnaire-II: a revised measure of psychological inflexibility and experiential avoidance. Behav Ther. 2011 Dec;42(4):676-88. doi: 10.1016/j.beth.2011.03.007. Epub 2011 May 25.
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PMID: 16446344
citation: Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL; CSER Consortium Outcomes and Measures Working Group. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet Med. 2014 Oct;16(10):727-35. doi: 10.1038/gim.2014.26. Epub 2014 Mar 13.
PMID: 24625446
citation: DuBenske LL, Burke Beckjord E, Hawkins RP, Gustafson DH. Psychometric evaluation of the Health Information Orientation Scale: a brief measure for assessing health information engagement and apprehension. J Health Psychol. 2009 Sep;14(6):721-30. doi: 10.1177/1359105309338892.
PMID: 19687109
citation: Bradbury AR, Patrick-Miller L, Schwartz LA, Egleston BL, Henry-Moss D, Domchek SM, Daly MB, Tuchman L, Moore C, Rauch PK, Shorter R, Karpink K, Sands CB. Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History. J Clin Oncol. 2016 Oct 1;34(28):3409-16. doi: 10.1200/JCO.2015.66.3450. Epub 2016 Aug 22.
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PMID: 21307933
responsible party type: Principal Investigator
investigator affiliation: Geisinger Clinic
investigator full name: Adam Buchanan
investigator title: Assistant Professor
mesh term: Colorectal Neoplasms, Hereditary Nonpolyposis
mesh term: Hereditary Breast and Ovarian Cancer Syndrome
mesh term: Hyperlipoproteinemia Type II
mesh term: Hypercholesterolemia
mesh term: Syndrome
sharing ipd: Yes
ipd description: As part of his/her responsibilities for the proposed study, the Geisinger Data Broker will work under the guidance of Dr. Kirchner to prepare a cleaned, de-identified copy of each quantitative data set used to support each publication that derives from the study. Data will be stripped of identifiers according to the Safe Harbor method of de-identification (https://www.hhs.gov/hipaa/for-professionals/privacy/special-topics/de-identification/index.html).
These data and related information (participant flow, baseline characteristics, outcome measures and statistical analyses) will then be uploaded to ClinicalTrials.gov within four weeks of acceptance of the corresponding publication. If applicable, the Data Broker will work with the project manager to upload data on adverse events to ClinicalTrials.gov on the same time schedule.
ipd info type: Study Protocol
ipd info type: Statistical Analysis Plan (SAP)
ipd info type: Informed Consent Form (ICF)
ipd info type: Analytic Code
ipd time frame: Within four weeks of acceptance of the corresponding publication.
provided document: 