An ELSI-Integrated Evaluation of the Family-Level Utility of Pediatric Genomic Sequencing
- National Institutes of Health
- National Human Genome Research Institute
Project Summary
This R00 project evaluates the family-level impact of pediatric genomic sequencing using a patient-centered approach and decision science methods. Our goal is to integrate research on the ethical, legal, and social implications (ELSI) of genomic medicine with health economic evaluation to develop a clinically relevant and ELSI-informed decision analytic model that takes preferences into consideration.
To achieve this goal, we conducted formative qualitative research (during the K99 phase of the award) to identify relevant attributes and normative values for family-level evaluation of pediatric genomic sequencing. Next (during the R00 phase of the award), we will elicit preferences for pediatric genomic sequencing using a discrete choice experiment administered to a representative sample of US adults. We will then 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 constructs 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 may be used to inform clinical guidelines, reimbursement strategies, and ethical implementation of pediatric genomic sequencing to improve patient and population health.
Aims
R00 phase: K99/R00 Pathway to Independence Career Development Award
Examine how parents value attributes of genomic sequencing for pediatric patients.
To quantify preferences and explore factors relevant for family-level utility functions, Dr. Smith and her team will conduct a discrete choice experiment to elicit the relative importance of ELSI-related and health-related attributes identified in Aim 1. Importance weights will be used to develop a family-centric outcome measure of utility that incorporates ELSI considerations and is highly relevant for decision-making in this clinical context.
Develop a decision analytic model of family-level impact of pediatric genomic sequencing.
Dr. Smith and her team will build a simulation model to conduct a comparative effectiveness evaluation of genomic sequencing as a diagnostic tool for children with suspected genetic conditions. Model structure will be informed by understanding of the family-level decision process in clinical context (Aim 1, K99 phase). It will also show proof of principle for use of the family utility measure developed from preference data (Aim 2) as the outcome measure and allow comparison to traditional outcome measures that consider individual health only.
This project will produce a robust decision analytic model of pediatric genomic sequencing and an outcome measure that integrates ELSI family-level effects, informed by clinical, qualitative, and empirical preference data. This project will have high impact because it will advance utility assessment in genomics by employing an innovative approach that integrates ELSI research into decision science methods of evaluation.
A Diversity Supplement to this project has supported a Master's-level trainee, Ms. Taylor Montgomery, and her research on heterogeneity of preferences for and clinical outcomes of pediatric genomic sequencing by race and ethnicity.