# Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents

> **NIH NIH R01** · GEISINGER CLINIC · 2021 · $627,524

## Abstract

Project Summary/Abstract
The potential benefits and harms of returning genomic results to children and their parents are matters of
enduring controversy—especially genomic results for adult-onset conditions that are not medically actionable
in childhood. Returning results for adult-onset conditions can spur life-saving preventive measures in the
parents of affected children. However, there has been long-standing concern that children who receive a result
for an adult-onset condition might experience negative psychosocial outcomes such as distress or altered
family functioning. The lack of empirical data to support either position in this controversy prevents policy
makers from making evidence-based judgments that balance benefits and harms. We propose to provide this
urgently needed data by returning adult- and pediatric-onset genomic results through a supportive clinical
program and assessing the associated psychosocial, behavioral and legal impact. Using our experience in
returning medically actionable genomic findings to adults in Geisinger's MyCode Community Health Initiative,
and with support from pediatric and adult clinical psychologists and clinician researchers with experience with
adolescents at increased cancer risk, we will return results for two adult-onset and 28 pediatric-onset genomic
conditions to MyCode pediatric participants and parents. We will conduct a longitudinal, mixed-methods cohort
study to assess psychosocial outcomes and health behaviors among participants: with a pathogenic variant in
an adult-onset gene (Group 1); with a pathogenic variant in a pediatric-onset gene (Group 2); and without a
genomic result (Group 3). This study design will allow us to address three critical research questions: 1) Do
children and parents who receive an adult-onset genomic result via a supportive clinical interaction have
poorer psychosocial outcomes than their counterparts who receive a pediatric-onset result or no genomic
result? 2) How does the receipt of children's genomic information impact their parents' cascade testing and risk
reduction decisions? and 3) Does the loss of chance tort doctrine (which allows for recovery of damages when
breach of duty caused a reduction in the chance of a favorable outcome) provide an applicable legal
framework for deciding whether to return adult-onset genomic findings to children? Data will be gathered
longitudinally via quantitative surveys using validated measures of distress, family functioning, and quality of
life; qualitative interviews with children and parents in Groups 1 and 2; electronic health records review of
parents' uptake of cascade testing and initiation of disease risk reduction procedures; and legal review of
relevant case law and legislation. Quantitative analyses will determine whether change in psychosocial and
behavioral outcomes from pre- to post-disclosure differs significantly among groups. Qualitative analyses will
allow for comparison of themes among those with an adul...

## Key facts

- **NIH application ID:** 10198971
- **Project number:** 5R01HG009671-04
- **Recipient organization:** GEISINGER CLINIC
- **Principal Investigator:** Adam H Buchanan
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $627,524
- **Award type:** 5
- **Project period:** 2018-09-19 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10198971

## Citation

> US National Institutes of Health, RePORTER application 10198971, Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents (5R01HG009671-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10198971. Licensed CC0.

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