Abstract
Background/Objectives: Value frameworks are useful tools to explicitly define the dimensions and criteria important for decision-making, but no existing frameworks capture the broad value domains of population genomic programs. Using a mixed methods approach, we aimed to develop a novel value framework for evaluating population genomic programs (PGPs). Methods: We first conducted a targeted literature review of published evidence on the value of PGPs and existing frameworks to evaluate and quantify their impact. Value domains and elements were extracted and summarized to develop a preliminary framework. Semi-structured stakeholder interviews on the preliminary framework were conducted from March 2024 to October 2024 with 11 experts representing 9 countries. A thematic analysis of interview transcripts was conducted to map value elements to domains of the final framework. Results: We identified 348 potentially relevant articles from MEDLINE-indexed and the gray literature sources. After title and abstract screening, 23 articles met the inclusion criteria and underwent full-text review, and 8 reported value elements were extracted and mapped to a preliminary framework for testing in interviews. Stakeholder themes were summarized into the value domains and elements of the final framework, which included health as a primary domain, education and research, enterprise and finance, and labor as the core domains, and agriculture and security as extended domains. Domains and elements may be excluded based on stakeholder objectives and program characteristics. Conclusions: This novel framework for assessing the comprehensive value of PGPs provides a foundational step to assess the value of these programs and may promote more efficient and informed allocation of resources.