Psychosocial Impact of Disclosing Cancer Predisposition Genetic Testing Results During Childhood

The participants are being asked to take part in this research study because the participant is a child who has been diagnosed with cancer and has completed genetic testing to find out if the participant has a variant in a gene that may predispose the participant to cancer, and/or the participants are the parents (i.e., guardian/caregiver) of this child. This research is being done to understand how finding out the results of genetic testing during childhood impacts the participant and family. The investigator will compare the emotions and behavior of parents and children based on the genetic testing results.

Primary Objective

• Examine the impact of genetic testing result disclosure for a pathogenic (P)/likely pathogenic (LP) germline variant in a known cancer predisposing gene versus negative results on parent adjustment (i.e., emotional functioning, cancer worry, symptom interpretation, and genetic testing related worry/distress).
• Examine the impact of genetic testing result disclosure for a P/LP germline variant versus negative results on parenting (i.e., responses to children's symptoms, overprotectiveness, parent-child communication, cohesion, and expressivity in the family).

Exploratory Objectives

• Examine the impact of genetic testing result disclosure (P/LP versus negative results) on child adjustment (i.e. emotional functioning, cancer worry, self-perception, and life meaning and purpose).
• Examine the impact of disclosing a variant of uncertain significance (VUS) on parent adjustment, parenting, and child adjustment.
• Examine the indirect association between genetic testing result disclosure (P/LP versus negative results) and child adjustment through parental adjustment and parenting behavior.
• Qualitatively identify children and parents' perspectives of how disclosure of a cancer predisposition has affected children's emotional, social, personal, and familial functioning.

Study Overview

• Status: Completed
• Conditions: Pediatric Cancer; Predisposition, Genetic

Detailed Description

A mixed methods approach, including questionnaires and qualitative interviews with children and their parents. Participants ("Primary Strata:" parents (i.e., guardians/caregivers) and children age ≥ 8 years, n=132; "Parent Only Strata:" parents of children age < 8 years, n=66) will complete questionnaires to examine the impact of germline variant disclosure on parent adjustment, parenting, and child adjustment. Optional qualitative interviews may be completed individually for participants (age ≥ 12 years, n=30) with P/LP variants (and who are aware of their result status) and their parents (n=30) to obtain more open-ended information about the impact of genetic testing result disclosure, family communication about testing results, and their perception of result implications.

• Study Type: Observational
• Enrollment (Actual): 199

Contacts and Locations

Study Locations

• United States
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • St.Jude Children's Research Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All participants who meet eligibility criteria and consent to enrollment on the study.

Description

Inclusion Criteria:

Primary Strata

• Patient underwent germline genetic testing as offered through the SJCRH Cancer Predisposition Program with results disclosed to patient and/or parents (i.e., of testing results are not a criterion for eligibility)
• Patient's age at the time of initial germline result disclosure was birth - 17 years of age (inclusive)
• Patient had diagnosis of malignancy (or benign tumor; e.g., craniopharyngioma) prior to germline testing
• A parent/legal guardian/caregiver is willing to participate in the research study and provide consent
• Participant family is fluent in English for completion of questionnaires (able to speak and read)
• Patient is currently 8 years of age or older

Parent Only Strata

• Parent (i.e., guardian/caregiver) of a patient who underwent germline genetic testing as offered through the SJCRH Cancer Predisposition Program with results disclosed to patient and/or parents 1 - 3 years (inclusive) previously (Note- patient's knowledge of testing results are not a criterion for eligibility)
• Parent of a patient whose age at the time of initial germline result disclosure was birth - 17 years of age (inclusive)
• Parent of a patient with a diagnosis of malignancy (or benign tumor; e.g., craniopharyngioma) prior to germline testing
• Parent/caregiver is a legal guardian willing to participate in the research study and provide consent
• Participant family is fluent in English for completion of questionnaires (able to speak and read).
• Parent of a patient currently younger than 8 years of age.

Exclusion Criteria:

• Inability or unwillingness of research participant or parent (i.e., guardian/caregiver) to give informed consent
• Parent is under the age of 18 years
• Parent has evidence of significant cognitive deficits (per medical report) that would interfere with the ability to comprehend questionnaires
• Research participant's medical status or condition precludes completion of the study (as determined by the medical team, patient, or parent)

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Primary Group (parent-child); parents (i.e., guardians/caregivers) and children age ≥ 8 years,will complete questionnaires to examine the impact of germline variant disclosure on parent adjustment, parenting, and child adjustment. Optional qualitative interviews may be completed individually for participants (age ≥ 12 years with P/LP variant and aware of results, or their parent)
Parent Only Group; parents of children age < 8 years, will complete questionnaires to examine the impact of germline variant disclosure on parent adjustment, parenting, and child adjustment.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Fear of Cancer Recurrence	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Fear of Cancer Recurrence - Short Form. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Cancer Information Questionnaire for Parents	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the Cancer Information Questionnaire for Parents. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Multidimensional Impact of Cancer Risk Assessment	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Multidimensional Impact of Cancer Risk Assessment. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Brief Symptom Inventory 18	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Brief Symptom Inventory 18. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Impact of Event Scale	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Impact of Event Scale - Revised. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Psychological Adaptation to Genetic Information Scale	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Psychological Adaptation to Genetic Information Scale-Modified. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Symptom Interpretation Questionnaire-Parent Report	Independent two-sample t-tests will assess statistical parental adjustment differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the Symptom Interpretation Questionnaire-Parent Report. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Parent-Adolescent Communication Scale	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) of parent- and child-reports on the Parent-Adolescent Communication Scale. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Family Environment Scale	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Family Environment Scale-Revised. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Parental Bonding Instrument	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the child-reported Parental Bonding Instrument. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Parent Protection Scale	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Parent Protection Scale. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Openness to Discuss Cancer in the Family	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Openness to Discuss Cancer in the Family. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Child Vulnerability Scale	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Child Vulnerability Scale. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0
Adult Responses to Children's Symptoms	Independent two-sample t-tests will assess statistical parenting differences between group means (i.e., parents of children with pathologic/likely pathologic vs. negative genetic testing result) on the parent-reported Adult Responses to Children's Symptoms. Only in the situation of outliers, two-sample Mann-Whitney U tests will be used for testing purposes.	Day 0

Collaborators and Investigators

• Sponsor: St. Jude Children's Research Hospital
• Investigators: Principal Investigator: Katianne Sharp, PhD, St. Jude Children's Research Hospital

Publications and helpful links

Helpful Links

• Clinical Trials Open at St. Jude
• St.Jude Children's Research Hospital

Study record dates

Study Major Dates

• Study Start (Actual): May 7, 2021
• Primary Completion (Actual): October 13, 2023
• Study Completion (Actual): October 13, 2023

Study Registration Dates

• First Submitted: April 12, 2021
• First Submitted That Met QC Criteria: April 13, 2021
• First Posted (Actual): April 19, 2021

Study Record Updates

• Last Update Posted (Actual): October 18, 2023
• Last Update Submitted That Met QC Criteria: October 17, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease
• Other Study ID Numbers: PSYGEN

Drug and device information, study documents

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