Genetic DiseaseNCT05472714
Educational Video for Genetic Testing
A study testing Educational Video in people with Genetic Disease and Cancer, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial summary
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Genetic Disease, Cancer
- What is being tested?
- Educational Video
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 359 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Sep 2021to 22 Mar 2025
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Parents
- Parent or Legal Guardian of a patient with a new diagnosis of cancer, tumor, or other diagnosis referred for tumor/normal sequencing (proband) in the Cancer Center at the Children's Hospital of Philadelphia (CHOP)
- Able to be approached within 1-4 weeks of tumor/normal sequencing
- Appropriate to approach per oncology team
- No cognitive impairment limiting ability to complete measures
- Ability to read and speak English fluently
Show all 13Show fewer
- Adolescent/Young Adult (AYA) probands
- Child proband receiving germline testing in the Cancer Center at CHOP
- Ages 12+
- Able to be approached within 1-4 weeks of tumor/normal sequencing
- Appropriate to approach per oncology team
- No cognitive impairment limiting ability to complete measures
- Ability to read and speak English fluently
Who cannot join
- 1) Not meeting any of inclusion criteria.
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: Integration of Multimodal Cancer Predisposition Genetic Counseling Practices Within the Pediatric Oncology Setting: Video Intervention for Newly Diagnosed Families Undergoing Genetic Testing
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
Read the detailed description
As over 15% of pediatric cancers are associated with a cancer predisposition, it is increasingly becoming standard of care for children with cancer, as well as those with suspected hereditary risk, to be evaluated for germline cancer predisposition. Unfortunately, the increase in pediatric genetic testing has exceeded the pace of research establishing best practices to optimize delivery of care for patients undergoing testing and their families. Tumor/normal genetic testing (testing of both tumor tissue and a paired normal sample) at time of cancer diagnosis or relapse is now widespread in pediatric oncology to improve cancer diagnostics, prognostics, and treatment; this testing also has potential to uncover underlying cancer predisposition syndromes with lifelong implications. Disseminating information at the time of cancer diagnosis is difficult, and is best done by a provider with expertise in cancer genetics. Thus, Investigators will develop an informational video for use prior to tumor/normal genetic testing to augment genetic counseling resources to support patients and families.
In this study, Investigators will develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis. Investigators will use a non randomized trial whereby a convenience sample of patients/families will be recruited to be controls in Year 1, followed by a convenience sample that will be allocated the video intervention In Year 2. To evaluate the impact of the video intervention, Investigators will compare assessments of two cohorts- an unexposed (no video intervention, Year 1) and exposed (video intervention, Year 2).
- Conditions
- Genetic Disease, Cancer
- Being tested
- Educational Video
- Keywords
- genetic testing, genetic counseling, germline testing, educational video
- Medical subject headings
- Genetic Diseases, Inborn, Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Educational VideoOther
Investigators will develop an informational video to be presented within one week of diagnosis of a tumor to those referred for tumor normal paired genetic testing.
| Study group | Role | What they receive |
|---|---|---|
| Without Video | No intervention | In year 1, investigators will recruit families of patients receiving the current standard-of-care approach to tumor-normal genetic testing with provider based education. |
| With Video | Experimental | In year 2, investigators will recruit families of patients receiving the updated standard-of-care approach to tumor-normal genetic testing with provider based education and an educational video. Receives: Other: Educational Video |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of Correct Items on Knowledge Questionnaire - Before Results
The primary outcome is the percentage of correct items on a genetic knowledge survey that was developed for this study, measured at baseline and before receipt of genetic test results. Participants evaluated included the primary caregivers, secondary caregivers and probands aged 12+. Total scores were generated by summarizing total number of correct responses and generating a percentage. The Genetic Knowledge measure included 12 true/false questions. Higher scores indicate higher genetic knowledge.
Measured: Up to 4 weeks after testing
Secondary outcomes (4)
Percentage of Correct Items on Knowledge Questionnaire - After Results
A secondary analysis includes data from all caregivers' (primary and secondary) and probands' (over 12 years of age) of percentage of correct items on a genetic knowledge survey that was developed for this study, repeated at a second timepoint (T2) after receipt of genetic test results. The knowledge score is a 12-point true/false questionnaire.
Total scores were generated by summarizing total number of correct responses and generating a percentage. The Genetic Knowledge measure included 12 true/false questions. Higher scores indicate higher genetic knowledge.
Measured: Up to 6 months post-genetic test result
Acceptability of Use of an Informational Video on Paired Tumor/Normal Testing for Participants With a New Cancer or Other Diagnosis
Acceptability in all participants (primary caregivers, secondary caregivers and probands aged 12+) will be assessed using a questionnaire including the following measures:
- Satisfaction with Decision Scale (SDS): 6-question decision satisfaction measure, scored on Likert scale from 1= strongly disagree to 5= strongly agree. Scores range from 0-30, higher scores indicate greater satisfaction.
- Impact of Events Scale for cancer-specific distress (IES): 15-item questionnaire, scored on a Likert scale from 1 (Not at all)- 5 (Often). Total scores range from 0-75, higher scores indicate greater distress. Scores for intrusion subscale range from 0 to 35. The scores for the avoidance subscale range from 0 to 40.
- Multidimensional Impact of Cancer Risk Assessment (MICRA) Distress Subscale is a 6-item questionnaire, scored on a Likert scale ranging from 0 (Never) to 5 (Often). Scores range from 0-30, higher scores indicate greater distress.
Only sub/scales completed entirely were analyzed.
Measured: One time, within 6 months after receipt of results
Intervention Feasibility - Technical Error
Feasibility will be assessed with absence of mean number of technical difficulties of video delivery reported by research staff from date of receiving genetic testing.
Measured: One time, within 6 months after receipt of results
Intervention Feasibility - Days to Receive Intervention
Feasibility will be assessed by timeliness of delivery of video after recommendation for testing, defined in average number of days to receive intervention from date of receiving genetic testing.
Measured: One time, within 6 months after receipt of results
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2022
- Study start10 Sep 2021
- Primary completion22 Mar 2025
- Study completion22 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Model description
- Comparison between year 1 and year 2 cohorts, with year 2 cohort receiving intervention
- Masking
- None (open label)
- Enrolment
- 359 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI)
- Responsible party
- Sponsor
- Investigators
- Suzanne MacFarland, MD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05472714
- Sponsor's protocol ID
- 21-019152
- Other IDs
- R21HG011912
- Status last verified
- Jun 2026
- First submitted
- 18 Jul 2022
- Last updated
- 16 Jun 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Investigators are committed to making all data, protocols, tools, and materials available to the scientific community, in compliance with Children's Hospital of Philadelphia policies and NIH "Sharing Data and Resources" statement, NIH Grants Policy Statement, and the NIH Office of Extramural Research, Division of Extramural Inventions \& Technology Resources (DEITR) Intellectual Property Policy. This includes sharing of protocols freely with collaborators and sharing of data through peer-reviewed publication and presentation in scientific meetings. All members of the research team will comply with the NIH policy on sharing data by protecting the privacy and rights of human subjects involved in the research at all times. All members of the research team with comply with the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and its accompanying regulations.
Study at a glance
From the registry record, last updated by the sponsor on 16 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Integration of Multimodal Cancer Predisposition Genetic Counseling Practices Within the Pediatric Oncology Setting: Video Intervention for Newly Diagnosed Families Undergoing Genetic Testing
- ClinicalTrials.gov ID
- NCT05472714
- Acronym / sponsor ID
- 21-019152
- Conditions
- Genetic Disease, Cancer
- Keywords
- genetic testing, genetic counseling, germline testing, educational video
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 359 participants (actual)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI)
- Study start
- 10 Sep 2021 (actual)
- Primary completion
- 22 Mar 2025 (actual)
- Study completion
- 22 Mar 2025 (actual)
- First posted
- 25 Jul 2022 (actual)
- Results
- Posted 16 Jun 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
Detailed description
As over 15% of pediatric cancers are associated with a cancer predisposition, it is increasingly becoming standard of care for children with cancer, as well as those with suspected hereditary risk, to be evaluated for germline cancer predisposition. Unfortunately, the increase in pediatric genetic testing has exceeded the pace of research establishing best practices to optimize delivery of care for patients undergoing testing and their families. Tumor/normal genetic testing (testing of both tumor tissue and a paired normal sample) at time of cancer diagnosis or relapse is now widespread in pediatric oncology to improve cancer diagnostics, prognostics, and treatment; this testing also has potential to uncover underlying cancer predisposition syndromes with lifelong implications. Disseminating information at the time of cancer diagnosis is difficult, and is best done by a provider with expertise in cancer genetics. Thus, Investigators will develop an informational video for use prior to tumor/normal genetic testing to augment genetic counseling resources to support patients and families.
In this study, Investigators will develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis. Investigators will use a non randomized trial whereby a convenience sample of patients/families will be recruited to be controls in Year 1, followed by a convenience sample that will be allocated the video intervention In Year 2. To evaluate the impact of the video intervention, Investigators will compare assessments of two cohorts- an unexposed (no video intervention, Year 1) and exposed (video intervention, Year 2).
Study design
- Primary purpose
- Supportive care
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Comparison between year 1 and year 2 cohorts, with year 2 cohort receiving intervention
| Arm | Type | Receives |
|---|---|---|
| Without Video | No intervention | –In year 1, investigators will recruit families of patients receiving the current standard-of-care approach to tumor-normal genetic testing with provider based education. |
| With Video | Experimental | Other: Educational VideoIn year 2, investigators will recruit families of patients receiving the updated standard-of-care approach to tumor-normal genetic testing with provider based education and an educational video. |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (13 listed)
- Parents
- Parent or Legal Guardian of a patient with a new diagnosis of cancer, tumor, or other diagnosis referred for tumor/normal sequencing (proband) in the Cancer Center at the Children's Hospital of Philadelphia (CHOP)
- Able to be approached within 1-4 weeks of tumor/normal sequencing
- Appropriate to approach per oncology team
- No cognitive impairment limiting ability to complete measures
Key exclusion criteria (1 listed)
- 1) Not meeting any of inclusion criteria.
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 |
|---|---|---|
| Educational VideoInvestigators will develop an informational video to be presented within one week of diagnosis of a tumor to those referred for tumor normal paired genetic testing. | Other | With Video |
Primary outcome
Percentage of Correct Items on Knowledge Questionnaire - Before Results
Time frame: Up to 4 weeks after testing
The primary outcome is the percentage of correct items on a genetic knowledge survey that was developed for this study, measured at baseline and before receipt of genetic test results. Participants evaluated included the primary caregivers, secondary caregivers and probands aged 12+. Total scores were generated by summarizing total number of correct responses and generating a percentage. The Genetic Knowledge measure included 12 true/false questions. Higher scores indicate higher genetic knowledge.
4 secondary outcomes
Percentage of Correct Items on Knowledge Questionnaire - After Results
Time frame: Up to 6 months post-genetic test result
Acceptability of Use of an Informational Video on Paired Tumor/Normal Testing for Participants With a New Cancer or Other Diagnosis
Time frame: One time, within 6 months after receipt of results
Intervention Feasibility - Technical Error
Time frame: One time, within 6 months after receipt of results
Intervention Feasibility - Days to Receive Intervention
Time frame: One time, within 6 months after receipt of results
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jun 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Yes. Investigators are committed to making all data, protocols, tools, and materials available to the scientific community, in compliance with Children's Hospital of Philadelphia policies and NIH "Sharing Data and Resources" statement, NIH Grants Policy Statement, and the NIH Office of Extramural Research, Division of Extramural Inventions \& Technology Resources (DEITR) Intellectual Property Policy. This includes sharing of protocols freely with collaborators and sharing of data through peer-reviewed publication and presentation in scientific meetings. All members of the research team will comply with the NIH policy on sharing data by protecting the privacy and rights of human subjects involved in the research at all times. All members of the research team with comply with the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and its accompanying regulations.
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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.
Suzanne MacFarland, MD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Educational Video in people with Genetic Disease and Cancer, run by Children's Hospital of Philadelphia 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 13 inclusion and 1 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 Jun 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?
Yes. Results are posted in the registry (first posted 16 Jun 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Percentage of Correct Items on Knowledge Questionnaire - Before Results (time frame: Up to 4 weeks after testing). 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 Jun 2026.