Pediatric Reporting of Adult-Onset Genomic Results

Summary

The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among MyCode adolescent participants and their parents, and health behaviors of children who received 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 children's 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.

Conditions

• Hereditary Breast and Ovarian Cancer Syndrome
• Lynch Syndrome
• Familial Hypercholesterolemia

Interventions

GENETIC

Child(ren) receive an adult-onset result

Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an adult-onset genomic result.

GENETIC

Child(ren) received a pediatric-onset result

Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an pediatric-onset genomic result.

GENETIC

Control - Negative Result

Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) tested negative for the familial genetic variant.

GENETIC

Adolescents who received adult-onset result

Psychological outcomes among adolescents who received an adult-onset result

GENETIC

Adolescents who received a pediatric-onset result

Psychological outcomes among adolescents who received a pediatric-onset result

GENETIC

Adolescent controls - negative for familial variant

Psychological outcomes among adolescents who tested negative for the familial genetic variant

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI)

  collaborator NIH

• Geisinger Clinic

  lead OTHER

Principal Investigators

• Adam H Buchanan, MS, MPH, CGC · Geisinger - Department of Genomic Health

Study Design

Allocation

NON_RANDOMIZED

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Model

PARALLEL

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2020-11-25

Primary Completion

2024-10-31

Completion

2024-10-31

Countries

• United States

Study Locations