Cancer, Genetic Disease
Conditions
Keywords
genetic testing, genetic counseling, germline testing, educational video
Brief 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.
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).
Interventions
OTHEREducational 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.
Sponsors
Children's Hospital of Philadelphia
National Institutes of Health (NIH)
National Human Genome Research Institute (NHGRI)
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Intervention model description
Comparison between year 1 and year 2 cohorts, with year 2 cohort receiving intervention
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of Correct Items on Knowledge Questionnaire - Before Results | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of Correct Items on Knowledge Questionnaire - After Results | Up to 6 months post-genetic test result | 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. |
| Acceptability of Use of an Informational Video on Paired Tumor/Normal Testing for Participants With a New Cancer or Other Diagnosis | One time, within 6 months after receipt of results | 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. |
| Intervention Feasibility - Technical Error | One time, within 6 months after receipt of results | 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. |
| Intervention Feasibility - Days to Receive Intervention | One time, within 6 months after receipt of results | 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORSuzanne MacFarland, MD
Children's Hospital of Philadelphia
Participant flow
Recruitment details
Patients were identified via existing Cancer Center informatics systems and the Division of Genomic Diagnostics as undergoing paired tumor/normal sequencing. Patients were recruited at least one week after cancer diagnosis and no more than 4 weeks after tumor/normal testing is sent. Families were then approached by phone or in clinic to confirm study eligibility and (if appropriate) obtain informed study consent.
Pre-assignment details
Participants enrolled in year 1 were assigned to the control group (without video). Participants enrolled in year 2 were assigned to the intervention group (with video). Participants enrolled include AYA probands aged 12+ and their caregiver(s).
Baseline characteristics
| Characteristic | — |
|---|---|
| Age, Continuous | 38.11 Years (1 d.p.) STANDARD_DEVIATION 10.98 |
| Race/Ethnicity, Customized Race Asian | 6 Participants |
| Race/Ethnicity, Customized Race Black or African American | 33 Participants |
| Race/Ethnicity, Customized Race Missing | 33 Participants |
| Race/Ethnicity, Customized Race Other/More than one Race | 24 Participants |
| Race/Ethnicity, Customized Race White | 245 Participants |
| Sex: Female, Male Female | 90 Participants |
| Sex: Female, Male Male | 140 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk | EG003 affected / at risk |
|---|---|---|---|---|
| deaths Total, all-cause mortality | 0 / 137 | 0 / 180 | 0 / 18 | 1 / 24 |
| other Total, other adverse events | 0 / 137 | 0 / 180 | 0 / 18 | 0 / 24 |
| serious Total, serious adverse events | 0 / 137 | 0 / 180 | 0 / 18 | 0 / 24 |
Outcome results
None listed