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.
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.
Supported by: National Institute of Health (NIH) National Human Genome Research Institute (NHGRI) Career Transition Award (K99) Project: 1K99HG011491-01