BRCA1 MutationECHONCT04428736
Evaluating Cascade Communication Methods
An observational study of BRCA1 Mutation and BRCA2 Mutation, run by University of Pennsylvania at 1 site in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- BRCA1 Mutation, BRCA2 Mutation
- What is being tested?
- Disclosure Toolkit
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 52 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Feb 2020to 31 Dec 2025
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Participants will be ascertained through the clinical genetics programs at Penn Medicine (Mariann and Robert MacDonald Cancer Risk Evaluation Program, "CREP," the Gastrointestinal Cancer Risk Evaluation Program, "GI CREP," and Penn Telegenetics). Participants will be clinical patients identified to be a carrier of a high risk cancer predisposition gene mutation as determined by the study team. Participants will have been through a formal pre-test genetic counseling consultation and will be approached for study enrollment at time of result disclosure (either telephone or in-person) - also known as the "post-test" visit. Disclosure of genetic test results will be facilitated by a participating genetic counselor.
Who may be able to join
- 18 years of age and older
- Proband must be carrier of a high risk cancer predisposition gene
- Relative must be established relative of respective proband participant and deemed "at-risk" for familial gene mutation and eligible genetic testing candidate as per study team determination
- Participants must be able to understand and read English
- Participants must be able to provide informed verbal or written consent
Who cannot join
- <18 years of age
- Individuals who are mutation negative for high risk cancer predisposition genes
- Individuals who are carriers of a variant of uncertain significance in any gene
- Individuals who test positive for more than 1 high risk cancer predisposition gene
- Individuals who cannot speak and read English
- Individuals who do not have any at-risk relatives (eligible for familial gene mutation testing) as per study team determination
Show all 9Show fewer
- Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
- Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff
- No available family members for cascade opportunity (adoption, estrangement, etc.)
Trial locations and contacts
1 site in 1 country.
United States1 site
Abramson Cancer Center
Philadelphia, Pennsylvania, 19104
About this study
Official title: ECHO: Evaluating Cascade Communication Methods
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.
Read the detailed description
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.
- Conditions
- BRCA1 Mutation, BRCA2 Mutation
- Being tested
- Disclosure Toolkit
- Keywords
- BRCA1, BRCA2, Cascade testing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Disclosure ToolkitBehavioural
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Impact of Toolkit use on sharing genetic test results with at-risk relatives
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.
Measured: 1 year
Impact of Toolkit use on at-risk relatives pursuing genetic testing
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.
Measured: 1 year
Secondary outcomes (2)
Barriers to sharing genetic test results with at-risk relatives
Assess possible barriers and/or unforeseen challenges that inhibit optimal sharing of genetic test results with at-risk relatives.
Measured: 1 year
Barriers inhibiting uptake of genetic testing by informed at-risk relatives
Assess possible barriers and/or unforeseen challenges that inhibit optimal uptake of genetic testing by informed at-risk relatives.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jun 2020
- Study start19 Feb 2020
- Primary completion31 Dec 2025
- Study completion31 Dec 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA1 MutationStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 52 participants (actual)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Susan M Domchek, MD, Principal investigator, Penn Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04428736
- Sponsor's protocol ID
- 833635
- Acronym
- ECHO
- Status last verified
- Apr 2026
- First submitted
- 22 May 2020
- Last updated
- 16 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ECHO: Evaluating Cascade Communication Methods
- ClinicalTrials.gov ID
- NCT04428736
- Acronym / sponsor ID
- ECHO / 833635
- Conditions
- BRCA1 Mutation, BRCA2 Mutation
- Keywords
- BRCA1, BRCA2, Cascade testing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 52 participants (actual)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Study start
- 19 Feb 2020 (actual)
- Primary completion
- 31 Dec 2025 (actual)
- Study completion
- 31 Dec 2025 (actual)
- First posted
- 11 Jun 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Year
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Participants will be ascertained through the clinical genetics programs at Penn Medicine (Mariann and Robert MacDonald Cancer Risk Evaluation Program, "CREP," the Gastrointestinal Cancer Risk Evaluation Program, "GI CREP," and Penn Telegenetics). Participants will be clinical patients identified to be a carrier of a high risk cancer predisposition gene mutation as determined by the study team. Participants will have been through a formal pre-test genetic counseling consultation and will be approached for study enrollment at time of result disclosure (either telephone or in-person) - also known as the "post-test" visit. Disclosure of genetic test results will be facilitated by a participating genetic counselor.
Key inclusion criteria (5 listed)
- 18 years of age and older
- Proband must be carrier of a high risk cancer predisposition gene
- Relative must be established relative of respective proband participant and deemed "at-risk" for familial gene mutation and eligible genetic testing candidate as per study team determination
- Participants must be able to understand and read English
- Participants must be able to provide informed verbal or written consent
Key exclusion criteria (9 listed)
- <18 years of age
- Individuals who are mutation negative for high risk cancer predisposition genes
- Individuals who are carriers of a variant of uncertain significance in any gene
- Individuals who test positive for more than 1 high risk cancer predisposition gene
- Individuals who cannot speak and read English
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Disclosure ToolkitParticipants 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. | Behavioural | – |
Primary outcome
Impact of Toolkit use on sharing genetic test results with at-risk relatives
Time frame: 1 year
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.
Impact of Toolkit use on at-risk relatives pursuing genetic testing
Time frame: 1 year
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.
2 secondary outcomes
Barriers to sharing genetic test results with at-risk relatives
Time frame: 1 year
Barriers inhibiting uptake of genetic testing by informed at-risk relatives
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Susan M Domchek, MD principal investigator
Penn Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of BRCA1 Mutation and BRCA2 Mutation, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Impact of Toolkit use on sharing genetic test results with at-risk relatives (time frame: 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Apr 2026.