Health Economic Evaluations of Genomic Newborn Screening: Approaches by studies within the International Consortium on Newborn Sequencing

Affordability and value-for-money are key factors that will inform decisions about implementation of genomic newborn screening (gNBS) as a population-based program. Given the methodological and data-related challenges to evaluating health and economic outcomes of gNBS, there is a need for discussion and knowledge sharing amongst investigators responsible for conducting such evaluations. The International Consortium on Newborn Sequencing (ICoNS) includes academic and commercial gNBS pilot and implementation programs, and the ICoNS Economics Subcommittee assembles health economists who are involved in the evaluation of these programs. This paper summarizes the reported approaches taken by gNBS researchers to assess the health, psychosocial, and economic outcomes of gNBS and provides recommendations for reporting of gNBS economic evaluations developed by an international working group of health economists. We surveyed 12 ICoNS-affiliated project investigators involved in the design of health economics and outcomes evaluation protocols, the results of which were supplemented through ICoNS Economics Subcommittee discussion. Investigators reported making economic evaluation methodological design choices that reflect both the gNBS study design and adaptation to local policy questions and stakeholder input. Investigators reported plans to conduct cost-effectiveness analyses (n = 7, 58%) and/or cost-utility analyses (n = 5, 42%). Recommendations for reporting gNBS economic evaluations include aspects of genetic condition identification, screening and follow-up care pathways, and health and cost outcomes. Going forward, making transparent study design choices and sharing lessons learned could advance understanding of outcomes in a methodologically complex context and inform researchers planning to design similar studies in the future.