<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/NCT04428736</url>
  </required_header>
  <id_info>
    <org_study_id>833635</org_study_id>
    <nct_id>NCT04428736</nct_id>
  </id_info>
  <brief_title>Evaluating Cascade Communication Methods</brief_title>
  <acronym>ECHO</acronym>
  <official_title>ECHO: Evaluating Cascade Communication Methods</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Pennsylvania</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Pennsylvania</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Hereditary cancer programs face challenges with respect to effective communication of genetic&#xD;
      test results within families and uptake of genetic testing by relatives. This study aims to&#xD;
      determine if a &quot;disclosure toolkit&quot; provided to the index participant (carrier of cancer risk&#xD;
      gene mutation) contributes to sharing genetic test results with relatives, if there are&#xD;
      preferred disclosure methods, and whether toolkit use contributes towards at-risk relatives&#xD;
      pursuing genetic testing.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The identification of a single individual with a highly penetrant cancer susceptibility gene&#xD;
      mutation can have far reaching implications for at-risk relatives in that other family&#xD;
      members can engage in highly informative and predictive genetic testing for cancer&#xD;
      predisposition. Family members who carry the familial cancer gene mutation are able to&#xD;
      receive personalized cancer risk management based upon their positive test result, while&#xD;
      those family members who test negative can generally be downgraded to follow cancer screening&#xD;
      guidelines for the general population, barring additional familial or personal risk factors&#xD;
      for developing cancer. Though crucial for stratifying and managing risks for relatives,&#xD;
      familial testing, otherwise known as cascade testing, is not always successfully implemented&#xD;
      within and across families. On a clinical basis the proband, also known as the index mutation&#xD;
      carrier, is generally encouraged to share results with family members in order to promote&#xD;
      their engagement in genetic counseling and testing. Despite the provision of results and a&#xD;
      tailored letter for family members, hereditary cancer programs routinely face challenges with&#xD;
      respect to communication of results within families and uptake of testing by relatives.&#xD;
      Research on family communication and cascade testing substantiates this experience as&#xD;
      previous studies have demonstrated suboptimal uptake of cascade testing in families, despite&#xD;
      its importance for defining and managing cancer risk (Barsevicket al,2008; Daly et al, 2016).&#xD;
      The purpose of our research study is to determine whether the provision of multiple&#xD;
      communication tools and platforms will improve communication between probands and at-risk&#xD;
      relatives, and if so, which communication method is the most useful to probands in&#xD;
      communicating their results and to relatives in coming to a decision regarding genetic&#xD;
      counseling and testing. Through the study, probands will be provided with a three-part&#xD;
      toolkit that includes a letter, website, and a chatbot known as &quot;GIA&quot; (for&quot;Genetic&#xD;
      Information Assistant&quot;). Though the challenges/barriers of cascade testing are&#xD;
      well-documented, there are scant reports of follow-up with relatives. Our study allows direct&#xD;
      contact with family members (by way of proband consent) to assess motivations and barriers to&#xD;
      genetic testing by family members.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">February 19, 2020</start_date>
  <completion_date type="Anticipated">December 31, 2024</completion_date>
  <primary_completion_date type="Anticipated">December 31, 2024</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Cross-Sectional</time_perspective>
  </study_design_info>
  <target_duration>1 Year</target_duration>
  <primary_outcome>
    <measure>Impact of Toolkit use on sharing genetic test results with at-risk relatives</measure>
    <time_frame>1 year</time_frame>
    <description>Determine if a &quot;Disclosure Toolkit&quot; contributes to participant sharing of genetic test result with at-risk relatives, and if so, which method is most useful for aiding in communication of results and decisions to undergo genetic counseling and testing.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Impact of Toolkit use on at-risk relatives pursuing genetic testing</measure>
    <time_frame>1 year</time_frame>
    <description>Determine if a &quot;Disclosure Toolkit&quot; impacts the rate of genetic testing by at-risk relatives in comparison to rates of genetic testing by relatives consistently reported in the literature.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Barriers to sharing genetic test results with at-risk relatives</measure>
    <time_frame>1 year</time_frame>
    <description>Assess possible barriers and/or unforeseen challenges that inhibit optimal sharing of genetic test results with at-risk relatives.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Barriers inhibiting uptake of genetic testing by informed at-risk relatives</measure>
    <time_frame>1 year</time_frame>
    <description>Assess possible barriers and/or unforeseen challenges that inhibit optimal uptake of genetic testing by informed at-risk relatives.</description>
  </secondary_outcome>
  <enrollment type="Anticipated">100</enrollment>
  <condition>BRCA1 Mutation</condition>
  <condition>BRCA2 Mutation</condition>
  <intervention>
    <intervention_type>Behavioral</intervention_type>
    <intervention_name>Disclosure Toolkit</intervention_name>
    <description>Participants will receive a &quot;Disclosure Toolkit&quot; consisting of a family letter, gene information chatbot, and informational website to aid in communicating their genetic test results with at-risk relatives.</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Participants will be ascertained through the clinical genetics programs at Penn Medicine&#xD;
        (Mariann and Robert MacDonald Cancer Risk Evaluation Program, &quot;CREP,&quot; the Gastrointestinal&#xD;
        Cancer Risk Evaluation Program, &quot;GI CREP,&quot; and Penn Telegenetics). Participants will be&#xD;
        clinical patients identified to be a carrier of a high risk cancer predisposition gene&#xD;
        mutation as determined by the study team. Participants will have been through a formal&#xD;
        pre-test genetic counseling consultation and will be approached for study enrollment at&#xD;
        time of result disclosure (either telephone or in-person) - also known as the &quot;post-test&quot;&#xD;
        visit. Disclosure of genetic test results will be facilitated by a participating genetic&#xD;
        counselor.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  18 years of age and older&#xD;
&#xD;
          -  Proband must be carrier of a high risk cancer predisposition gene&#xD;
&#xD;
          -  Relative must be established relative of respective proband participant and deemed&#xD;
             &quot;at-risk&quot; for familial gene mutation and eligible genetic testing candidate as per&#xD;
             study team determination&#xD;
&#xD;
          -  Participants must be able to understand and read English&#xD;
&#xD;
          -  Participants must be able to provide informed verbal or written consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  &lt;18 years of age&#xD;
&#xD;
          -  Individuals who are mutation negative for high risk cancer predisposition genes&#xD;
&#xD;
          -  Individuals who are carriers of a variant of uncertain significance in any gene&#xD;
&#xD;
          -  Individuals who test positive for more than 1 high risk cancer predisposition gene&#xD;
&#xD;
          -  Individuals who cannot speak and read English&#xD;
&#xD;
          -  Individuals who do not have any at-risk relatives (eligible for familial gene mutation&#xD;
             testing) as per study team determination&#xD;
&#xD;
          -  Major psychiatric illness or cognitive impairment that in the judgement of the study&#xD;
             investigators or study staff would preclude study participation&#xD;
&#xD;
          -  Any patients who are unable to comply with the study procedures as determined by the&#xD;
             study investigators or study staff&#xD;
&#xD;
          -  No available family members for cascade opportunity (adoption, estrangement, etc.)&#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>Susan M Domchek, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Penn Medicine</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>ECHO Study Team</last_name>
    <phone>215-662-3322</phone>
    <email>ECHOStudy@pennmedicine.upenn.edu</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Danielle McKenna, MS</last_name>
    <phone>215-360-0424</phone>
    <email>Danielle.Mckenna@pennmedicine.upenn.edu</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Abramson Cancer Center</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19104</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>ECHO Study Team</last_name>
      <phone>215-662-3322</phone>
      <email>ECHOStudy@pennmedicine.upenn.edu</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>April 2023</verification_date>
  <study_first_submitted>May 22, 2020</study_first_submitted>
  <study_first_submitted_qc>June 9, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 11, 2020</study_first_posted>
  <last_update_submitted>April 4, 2023</last_update_submitted>
  <last_update_submitted_qc>April 4, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">April 6, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>BRCA1</keyword>
  <keyword>BRCA2</keyword>
  <keyword>Cascade testing</keyword>
  <patient_data>
    <sharing_ipd>Undecided</sharing_ipd>
  </patient_data>
  <!-- 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/NCT04428736
org study id: 833635
nct id: NCT04428736
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
Hereditary cancer programs face challenges with respect to effective communication of genetic
      test results within families and uptake of genetic testing by relatives. This study aims to
      determine if a "disclosure toolkit" provided to the index participant (carrier of cancer risk
      gene mutation) contributes to sharing genetic test results with relatives, if there are
      preferred disclosure methods, and whether toolkit use contributes towards at-risk relatives
      pursuing genetic testing.
The identification of a single individual with a highly penetrant cancer susceptibility gene
      mutation can have far reaching implications for at-risk relatives in that other family
      members can engage in highly informative and predictive genetic testing for cancer
      predisposition. Family members who carry the familial cancer gene mutation are able to
      receive personalized cancer risk management based upon their positive test result, while
      those family members who test negative can generally be downgraded to follow cancer screening
      guidelines for the general population, barring additional familial or personal risk factors
      for developing cancer. Though crucial for stratifying and managing risks for relatives,
      familial testing, otherwise known as cascade testing, is not always successfully implemented
      within and across families. On a clinical basis the proband, also known as the index mutation
      carrier, is generally encouraged to share results with family members in order to promote
      their engagement in genetic counseling and testing. Despite the provision of results and a
      tailored letter for family members, hereditary cancer programs routinely face challenges with
      respect to communication of results within families and uptake of testing by relatives.
      Research on family communication and cascade testing substantiates this experience as
      previous studies have demonstrated suboptimal uptake of cascade testing in families, despite
      its importance for defining and managing cancer risk (Barsevicket al,2008; Daly et al, 2016).
      The purpose of our research study is to determine whether the provision of multiple
      communication tools and platforms will improve communication between probands and at-risk
      relatives, and if so, which communication method is the most useful to probands in
      communicating their results and to relatives in coming to a decision regarding genetic
      counseling and testing. Through the study, probands will be provided with a three-part
      toolkit that includes a letter, website, and a chatbot known as "GIA" (for"Genetic
      Information Assistant"). Though the challenges/barriers of cascade testing are
      well-documented, there are scant reports of follow-up with relatives. Our study allows direct
      contact with family members (by way of proband consent) to assess motivations and barriers to
      genetic testing by family members.
observational model: Cohort
time perspective: Cross-Sectional
measure: Impact of Toolkit use on sharing genetic test results with at-risk relatives
time frame: 1 year
description: Determine if a "Disclosure Toolkit" contributes to participant sharing of genetic test result with at-risk relatives, and if so, which method is most useful for aiding in communication of results and decisions to undergo genetic counseling and testing.
measure: Impact of Toolkit use on at-risk relatives pursuing genetic testing
time frame: 1 year
description: Determine if a "Disclosure Toolkit" impacts the rate of genetic testing by at-risk relatives in comparison to rates of genetic testing by relatives consistently reported in the literature.
measure: Barriers to sharing genetic test results with at-risk relatives
time frame: 1 year
description: Assess possible barriers and/or unforeseen challenges that inhibit optimal sharing of genetic test results with at-risk relatives.
measure: Barriers inhibiting uptake of genetic testing by informed at-risk relatives
time frame: 1 year
description: Assess possible barriers and/or unforeseen challenges that inhibit optimal uptake of genetic testing by informed at-risk relatives.
intervention type: Behavioral
intervention name: Disclosure Toolkit
description: Participants will receive a "Disclosure Toolkit" consisting of a family letter, gene information chatbot, and informational website to aid in communicating their genetic test results with at-risk relatives.
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: Susan M Domchek, MD
role: Principal Investigator
affiliation: Penn Medicine
last name: ECHO Study Team
phone: 215-662-3322
email: ECHOStudy@pennmedicine.upenn.edu
last name: Danielle McKenna, MS
phone: 215-360-0424
email: Danielle.Mckenna@pennmedicine.upenn.edu
facility: 
status: Recruiting
contact: 
country: United States
responsible party type: Sponsor
sharing ipd: Undecided