Educational Video for Genetic Testing

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.

Study Overview

• Status: Completed
• Conditions: Cancer; Genetic Disease
• Intervention / Treatment: Other: Educational Video

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 Type: Interventional
• Enrollment (Actual): 359
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 12 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

Parents

1. 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)
2. Able to be approached within 1-4 weeks of tumor/normal sequencing
3. Appropriate to approach per oncology team
4. No cognitive impairment limiting ability to complete measures
5. Ability to read and speak English fluently

Adolescent/Young Adult (AYA) probands

1. Child proband receiving germline testing in the Cancer Center at CHOP
2. Ages 12+
3. Able to be approached within 1-4 weeks of tumor/normal sequencing
4. Appropriate to approach per oncology team
5. No cognitive impairment limiting ability to complete measures
6. Ability to read and speak English fluently

Exclusion Criteria:

1) Not meeting any of inclusion criteria.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: Non-Randomized
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
No Intervention: Without Video; 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.
Experimental: With Video; 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.	Other: Educational Video; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Up to 4 weeks after testing

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	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.	One time, within 6 months after receipt of results

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Satisfaction With Decision Scale (SDS) - Before Results	Satisfaction with Decision Scale (SDS): a 6-question decision satisfaction measure, scored on a Likert scale from 1= strongly disagree to 5= strongly agree. Higher total scores indicate greater satisfaction with decisions for pursuing genetic testing. Scores range from 0-30, with higher scores indicating greater satisfaction.	Up to 4 weeks after testing
Impact of Events Scale (IES) - Before Results	This 15-item measure assesses cancer-related anxiety through two subscales (intrusive thinking and avoidance). Responses are measured on a 4-point Likert scale with the following anchors: 0 "not at all", 1 "rarely", 3 "sometimes", and 5 "often". Scores range from 0 to 35 for intrusion, 0 to 40 for avoidance, and 0 to 75 for the total IES. Higher scores indicate greater cancer-related anxiety.	Up to 4 weeks after testing

Collaborators and Investigators

• Sponsor: Children's Hospital of Philadelphia
• Collaborators: National Institutes of Health (NIH); National Human Genome Research Institute (NHGRI)
• Investigators: Principal Investigator: Suzanne MacFarland, MD, Children's Hospital of Philadelphia

Study record dates

Study Major Dates

• Study Start (Actual): September 10, 2021
• Primary Completion (Actual): March 22, 2025
• Study Completion (Actual): March 22, 2025

Study Registration Dates

• First Submitted: July 18, 2022
• First Submitted That Met QC Criteria: July 21, 2022
• First Posted (Actual): July 25, 2022

Study Record Updates

• Last Update Posted (Actual): June 16, 2026
• Last Update Submitted That Met QC Criteria: June 15, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Keywords: genetic testing; educational video; genetic counseling; germline testing
• Additional Relevant MeSH Terms: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Genetic Diseases, Inborn
• Other Study ID Numbers: 21-019152; R21HG011912 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: 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.
• IPD Sharing Time Frame: Upon request
• IPD Sharing Access Criteria: Upon request
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No