# An ELSI-Integrated Evaluation of the Family-Level Utility of Pediatric Genomic Sequencing

> **NIH NIH R00** · HARVARD PILGRIM HEALTH CARE, INC. · 2024 · $56,022

## Abstract

PROJECT SUMMARY/ABSTRACT
Substantial resources have been devoted to policy evaluation of clinical genomic sequencing that hinge on the
conceptualization and measurement of utility. However, most evaluations fail to capture the full utility of
genomic sequencing because they do not account for impact on family members. Pediatrics is a clinical area in
which study of family impact is imperative due to the clinical nature of genetic disorders that manifest in
childhood and the patient-parent-physician decision-making context, in addition to potential identification of
patients’ biologic relatives who may benefit from genetic screening. Although traditional decision science
methods for health economic evaluation produce evidence in the form decision-makers rely upon, they tend to
focus on the individual patient and do not consider the ethical, legal, and social implications (ELSI) of testing
for families. Cross-disciplinary effort is necessary integrate ELSI issues that influence clinical implementation
and family preferences using decision science methods for robust modeling and outcomes assessment. This
Pathway to Independence Award (K99/R00) will equip the candidate, a health economist, with expertise in
ELSI in order to conduct innovative research using decision science methodology that integrates ELSI
considerations. The candidate’s career goal is to be a tenure track professor with an independent research
program to meaningfully evaluate the impact of genomic medicine and expand the evidence base for policy
decisions about its implementation. The goal of the proposed research is to develop a clinically relevant and
ELSI-informed model to assess family-level impact of genomic sequencing in the context of pediatric clinical
care. Based in the Center for Medical Ethics and Health Policy at Baylor College of Medicine, the candidate will
pursue training in three domains during the mentored phase of the project (K99): (1) ELSI, including qualitative
research methods and normative ethics; (2) pediatric genetics clinical context; (3) advanced decision science
methods, including patient preference elicitation and decision analytic modeling. The training will be applied to
conduct research to better understand the utility of pediatric clinical genomics at the family level by considering
ELSI and family preferences. The specific aims of the research project are: (1) identify relevant attributes and
normative values for family-level evaluation of pediatric genomic sequencing; (2) examine how parents value
those attributes of genomic sequencing using a discrete choice experiment; (3) develop a decision analytic
model of family-level impact of pediatric genomic sequencing to examine its use as a diagnostic tool and
explore the importance of including ELSI and family preferences in utility measures. This project will have high
impact by advancing utility assessment of genomic medicine to better guide clinical and policy decision-
making. Results will inform c...

## Key facts

- **NIH application ID:** 11057751
- **Project number:** 3R00HG011491-04S1
- **Recipient organization:** HARVARD PILGRIM HEALTH CARE, INC.
- **Principal Investigator:** Hadley Stevens Smith
- **Activity code:** R00 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $56,022
- **Award type:** 3
- **Project period:** 2024-03-25 → 2026-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11057751

## Citation

> US National Institutes of Health, RePORTER application 11057751, An ELSI-Integrated Evaluation of the Family-Level Utility of Pediatric Genomic Sequencing (3R00HG011491-04S1). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/11057751. Licensed CC0.

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