Wendy J. Ungar, MSc, PhD

In economic evaluation, value is determined by measuring both costs and health consequences in individual patients, preferably over their lifetime. This definition of value is challenged by precision medicine (PM) diagnostics, which are changing the practice of medicine. Genome sequencing (GS) in particular is a powerful means to guide patient management and treatment and dosage selection. Sequencing may be particularly beneficial in children since early diagnosis, risk identification and intervention can result in lifelong benefit. Diagnostic results in children can trigger testing in parents, siblings and second-degree relatives, thereby potentially improving outcomes for many. Extending the scope of benefits beyond the individual patient to include family members enhances the value of PM diagnostics — but this added value is not captured with current methods of cost-effectiveness analysis. A novel paradigm for measuring costs and health consequences that includes patients and family members is required. The first objective involves identifying and understanding the specific challenges of incorporating the costs and consequences of family members into economic evaluation of PM diagnostics. This is being accomplished through literature reviews focused on theory and methods. Second, empirical research has been undertaken to measure family members’ cascade use of services and costs stemming from genetic testing in children with cardiomyopathies. Third, a versatile analytic model to accurately microcost trio genome sequencing (proband plus parents) in pediatric cardiology has been created. The research program funded by the PhRMA Foundation is well aligned with the Foundation’s value assessment priorities by addressing a growing gap in methods for cost-effectiveness analysis of PM diagnostics. Funding and policy decision makers grappling with how to optimize healthcare investment decisions in PM diagnostics will benefit from this work, as will researchers, clinicians and families.

Challenge Award Paper: Genome Diagnostics: Novel Strategies for Measuring Value

In their research proposal, Dr. Ungar and colleagues discuss the substantial medical and economic benefits of genome wide sequencing (GWS) as a means to enhance personalized medicine across a broad range of therapeutic areas, noting that assessing the full value of these technologies requires a set of metrics that extend beyond laboratory-based performance parameters. The authors summarize their progress in developing a methodology for measuring the clinical and personal value of genome diagnostics, building on preliminary findings from the Hospital for Sick Children’s Genome Clinic, a translational genomics research platform that routinely generates genomic data on children with a range of clinical phenotypes. Building on these preliminary findings, researchers from the University of Wisconsin and the Hospital for Sick Children are developing a methodology to assess the medical and economic benefits of genome-wide sequencing. Stakeholder input and cohort studies will establish construct validity, and a comparative-effectiveness assessment will gauge the value of different genetic tests.