Psychosocial Impact of Disclosing Cancer Predisposition Genetic Testing Results During Childhood

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.

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.

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)