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

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 clinical guidelines, reimbursement strategies, and ethical implementation of pediatric genomic sequencing to improve patient and population health.