Study Results
Results pending
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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Recruitment Status
COMPLETED
Clinical Phase
EARLY_PHASE1
Total Enrollment
427 participants
Study Classification
INTERVENTIONAL
Study Start Date
2020-11-25
Study Completion Date
2024-10-31
Brief Summary
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The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among 705 MyCode pediatric participants and their parents, and health behaviors of parents whose children receive an adult- or pediatric-onset genomic result. Data will be gathered via quantitative surveys using validated measures of distress, family functioning, quality of life, body image, perceived cancer/heart disease risk, genetic counseling satisfaction, genomics knowledge, and adjustment to genetic information; qualitative interviews with adolescents and parents; and electronic health records review of parents' cascade testing uptake and initiation of risk reduction behaviors. The investigators will also conduct empirical and theoretical legal research to examine the loss of chance doctrine and its applicability to genomic research.
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Detailed Description
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The Investigators propose a longitudinal, observational cohort study using mixed methods to compare change in psychosocial outcomes and health behaviors among three study groups of pediatric MyCode participants and their parents:
1. Group 1 - those with a pathogenic variant in a gene associated with adult onset of disease (n=17 adolescents, 50 parents)
2. Group 2 - those with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood (n=53 adolescents, 160 parents)
3. Group 3 - those who do not receive a genomic result (n=105 adolescents, 320 parents)
The Investigators will use the current existing MyCode list of actionable genes designated as actionable by the American College of Medical Genetics and Genomics. Parents of pediatric MyCode participants will be offered the opportunity to participate in the study prior to learning to which group they belong. Consistent with Geisinger policy, children ages 7-17 will be asked to give assent to participate. If a child does not want to assent to participate, he or she will not be enrolled into the study (regardless of their parents' preference regarding enrollment). Parents of children who do not give assent will be ineligible to participate. Parents who decline participation when their child is suspected to have a pathogenic adult-onset result will have their child's sample held for clinical confirmation until the child reaches age 18 years. Parents who decline participation when their child is suspected to have a pathogenic pediatric-onset result will proceed to clinical confirmation of the result and, if confirmed, follow the established clinical return procedure. This recruitment approach is consistent with the MyCode philosophy of notifying participants of actionable findings. Parent-participants will be asked to assess psychosocial outcomes for themselves and for their children. Consistent with co-investigator Angela Bradbury's research on the experience of adolescent girls from families at increased risk for breast cancer, pediatric participants ages 11-17 years at enrollment (i.e., adolescents) will also participate in quantitative surveys and qualitative interviews.
Psychosocial variables such as anxiety and depression will be assessed among parents and adolescents at enrollment (T1), after which those suspected of having a pathogenic variant will proceed to clinical confirmation of that variant. Those whose variant is confirmed clinically as pathogenic or likely pathogenic will then be scheduled for a disclosure appointment. These appointments will be conducted by a genetic counselor and psychologist, who will perform psychosocial assessment, conduct therapeutic consults as needed, and conduct periodic psychosocial assessments of adolescent participants with adult-onset results. Participants with suspected pathogenic variants that are not confirmed clinically and participants without a suspected pathogenic variant will be scheduled for a study visit to notify them of their group status and remind them to follow up with their pediatrician if they have significant personal or family history of cancer or heart disease.
Validated surveys will be used to measure outcomes in each study group at 1 month (T3), 6 months (T4) and 12 months (T5) post-disclosure visit. The investigators will conduct qualitative interviews with a subset of at least 45 participants in each of the two study groups who receive a genomic result to better understand the lived experience of adolescents with an actionable genomic finding and their parents. Data collection will continue after the grant funding ends because of Geisinger Research Division's commitment to following the study cohort. To address the legal specific aim, Dr. Wagner will lead the study team's legal experts in examining and monitoring the loss of chance doctrine in medical malpractice cases in federal and state courts across the United States and in monitoring legislative developments relating to the loss of chance doctrine as it applies to returning adult-onset genomic results to children.
1. Group 1 - those with a pathogenic variant in a gene associated with adult onset of disease (n=17 adolescents, 50 parents)
2. Group 2 - those with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood (n=53 adolescents, 160 parents)
3. Group 3 - those who do not receive a genomic result (n=105 adolescents, 320 parents)
The Investigators will use the current existing MyCode list of actionable genes designated as actionable by the American College of Medical Genetics and Genomics. Parents of pediatric MyCode participants will be offered the opportunity to participate in the study prior to learning to which group they belong. Consistent with Geisinger policy, children ages 7-17 will be asked to give assent to participate. If a child does not want to assent to participate, he or she will not be enrolled into the study (regardless of their parents' preference regarding enrollment). Parents of children who do not give assent will be ineligible to participate. Parents who decline participation when their child is suspected to have a pathogenic adult-onset result will have their child's sample held for clinical confirmation until the child reaches age 18 years. Parents who decline participation when their child is suspected to have a pathogenic pediatric-onset result will proceed to clinical confirmation of the result and, if confirmed, follow the established clinical return procedure. This recruitment approach is consistent with the MyCode philosophy of notifying participants of actionable findings. Parent-participants will be asked to assess psychosocial outcomes for themselves and for their children. Consistent with co-investigator Angela Bradbury's research on the experience of adolescent girls from families at increased risk for breast cancer, pediatric participants ages 11-17 years at enrollment (i.e., adolescents) will also participate in quantitative surveys and qualitative interviews.
Psychosocial variables such as anxiety and depression will be assessed among parents and adolescents at enrollment (T1), after which those suspected of having a pathogenic variant will proceed to clinical confirmation of that variant. Those whose variant is confirmed clinically as pathogenic or likely pathogenic will then be scheduled for a disclosure appointment. These appointments will be conducted by a genetic counselor and psychologist, who will perform psychosocial assessment, conduct therapeutic consults as needed, and conduct periodic psychosocial assessments of adolescent participants with adult-onset results. Participants with suspected pathogenic variants that are not confirmed clinically and participants without a suspected pathogenic variant will be scheduled for a study visit to notify them of their group status and remind them to follow up with their pediatrician if they have significant personal or family history of cancer or heart disease.
Validated surveys will be used to measure outcomes in each study group at 1 month (T3), 6 months (T4) and 12 months (T5) post-disclosure visit. The investigators will conduct qualitative interviews with a subset of at least 45 participants in each of the two study groups who receive a genomic result to better understand the lived experience of adolescents with an actionable genomic finding and their parents. Data collection will continue after the grant funding ends because of Geisinger Research Division's commitment to following the study cohort. To address the legal specific aim, Dr. Wagner will lead the study team's legal experts in examining and monitoring the loss of chance doctrine in medical malpractice cases in federal and state courts across the United States and in monitoring legislative developments relating to the loss of chance doctrine as it applies to returning adult-onset genomic results to children.
Conditions
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Hereditary Breast and Ovarian Cancer Syndrome
Lynch Syndrome
Familial Hypercholesterolemia
Study Design
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Allocation Method
NON_RANDOMIZED
Intervention Model
PARALLEL
The study sample will be drawn from all pediatric MyCode participants (ages 0-17 years). At least one parent will be enrolled for each pediatric participant. Parents of children ages 0-10 years at enrollment will participate in data collection; parents of children ages 11-17 years at enrollment and their children will participate in data collection. Group 3 participants will be frequency matched to Groups 1 and 2 participants on age and sex.
Individuals who have already had genetic counseling for any of the MyCode target conditions as part of their routine clinical care will be excluded to avoid confounding study findings.
Quantitative data collection will be on 705 (530 parents and 175 adolescents).
Individuals who have already had genetic counseling for any of the MyCode target conditions as part of their routine clinical care will be excluded to avoid confounding study findings.
Quantitative data collection will be on 705 (530 parents and 175 adolescents).
Primary Study Purpose
HEALTH_SERVICES_RESEARCH
Blinding Strategy
NONE
No one is prevented from having knowledge of this project.
Study Groups
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Receive an adult-onset result
Compare change in psychosocial outcomes and health behaviors of those with a pathogenic variant in a gene associated with adult onset of disease.
Group Type
EXPERIMENTAL
Receive an adult-onset result
Intervention Type
GENETIC
Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.
Receive a pediatric-onset result
Compare change in psychosocial outcomes and health behaviors of those with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood.
Group Type
EXPERIMENTAL
Receive a pediatric-onset result
Intervention Type
GENETIC
Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.
Control - No result
Compare change in psychosocial outcomes and health behaviors of those without a genomic result.
Group Type
ACTIVE_COMPARATOR
Control - No Result
Intervention Type
GENETIC
Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have not received an adult-onset genomic result.
Interventions
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Receive an adult-onset result
Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.
Intervention Type
GENETIC
Receive a pediatric-onset result
Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have received an adult-onset genomic result.
Intervention Type
GENETIC
Control - No Result
Assess the psychosocial outcomes and the lived experience of MyCode pediatric participants and parents who have not received an adult-onset genomic result.
Intervention Type
GENETIC
Eligibility Criteria
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Inclusion Criteria
* Any pediatric MyCode participant (ages 0-17) OR
* Parent of a pediatric MyCode participant who has given assent to participate in this study.
* Parent of a pediatric MyCode participant who has given assent to participate in this study.
Exclusion Criteria
* Individuals who have already had genetic counseling for any of the actionable target conditions as part of their routine clinical care.
* Individuals who have already had genetic counseling for any of the actionable target conditions through their participation in another research study.
* Individuals who have already had genetic counseling for any of the actionable target conditions through their participation in another research study.
Eligible Sex
ALL
Accepts Healthy Volunteers
Yes
Sponsors
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National Human Genome Research Institute (NHGRI)
NIH
Sponsor Role
collaborator
Geisinger Clinic
OTHER
Sponsor Role
lead
Responsible Party
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Adam Buchanan
Associate Professor and Chair
Responsibility Role
PRINCIPAL_INVESTIGATOR
Principal Investigators
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Adam H Buchanan, MS, MPH, CGC
Role: PRINCIPAL_INVESTIGATOR
Geisinger - Department of Genomic Health
Locations
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Geisinger
Danville, Pennsylvania, United States
Site Status
Countries
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United States
References
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Read CY, Perry DJ, Duffy ME. Design and psychometric evaluation of the Psychological Adaptation to Genetic Information Scale. J Nurs Scholarsh. 2005;37(3):203-8. doi: 10.1111/j.1547-5069.2005.00036.x.
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Reference Type
DERIVED
Provided Documents
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Document Type: Informed Consent Form
Other Identifiers
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2018-0419
Identifier Type: -
Identifier Source: org_study_id
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