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): 355
• 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
Knowledge Score - Before Results	The primary outcome is the primary caregiver's knowledge score measured before receipt of genetic results. Knowledge score is a 12-point true/false questionnaire. Higher scores indicate higher genetic knowledge.	up to 4 weeks after testing

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Knowledge Score - After Results	The primary caregiver's knowledge score measured after receipt of genetic results, which is the same knowledge score measured before receipt of results. Knowledge score is a 12-point true/false questionnaire.	Once, within 6 months after receipt of results
Knowledge Score - all caregivers and probands	Another secondary analysis will include data from all caregivers' (primary and secondary) and probands' (over 12 years of age) knowledge scores. The knowledge score is a 12-point true/false questionnaire.	Twice, prior to, and within 6 months after receipt of results
Acceptability of use of an informational video on paired tumor/normal testing for participants with a new cancer or other diagnosis	Acceptability will be assessed using a questionnaire including a satisfaction with decision scale, a 6 question decision satisfaction measure, an impact of events scale for cancer-specific distress, a 15 item questionnaire, and a multidimensional impact of cancer risk assessment, a 6 item questionnaire.	One time, within 6 months after receipt of results
Feasibility of an informational video on paired tumor/normal testing for children and adolescents with a new cancer diagnosis.	Feasibility will be assessed with absence of technical difficulties of video delivery and timeliness of delivery of video after recommendation for testing.	One time, within 6 months after receipt of results

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 (Estimated): November 19, 2025
• Last Update Submitted That Met QC Criteria: November 18, 2025
• Last Verified: November 1, 2025

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