Development of a Novel Value Framework for Evaluating Population Genomic Programs Using A Mixed Methods Approach

Author(s)

Scott Spencer, MA, PhD1, David J. Campbell, MS, PharmD2, Sarah C. Katsandres, MPH2, Ashley Kang, BA, MPH2, David L. Veenstra, PharmD, PhD2;
1Illumina Inc., Denver, CO, USA, 2Curta Inc., Seattle, WA, USA
OBJECTIVES: Value frameworks are useful tools to explicitly define the dimensions and criteria important for consideration by decision-makers and resource allocators. No existing frameworks have been developed to capture the value domains and applications of entire population genomic programs. Using a mixed methods approach, we aimed to develop a novel value framework for evaluating population genomic programs.
METHODS: We first conducted a targeted literature review to synthesize the published evidence on the value of population genomic programs and existing frameworks used to evaluate and quantify their impact. A preliminary framework was developed from the identified value domains and value elements of these programs. Semi-structured stakeholder interviews were conducted from March 2024 to October 2024 with 11 experts representing 8 countries to gather current global perspectives on framework value domains and elements. To develop the final framework, a thematic analysis of the interview transcripts was conducted, and value elements were mapped to domains.
RESULTS: We identified 348 potentially relevant articles from MEDLINE indexed and grey literature sources. After title and abstract screening, 23 articles met inclusion criteria and underwent full-text review. Among articles that underwent full-text review, 8 reported value elements were extracted and mapped to a preliminary framework for testing in interviews. Stakeholder themes were summarized and used to revise the value domains and elements of the final framework. The six value domains of the final framework included health as a primary domain, education and research, enterprise and finance, and labor as core domains, and agriculture, and security as extended domains. Domains and elements of the value framework may be excluded based on stakeholder objectives and program characteristics.
CONCLUSIONS: This novel framework for assessing the comprehensive value of population genomic programs provides a foundational step to assess the value of these programs and may promote more efficient and valuable allocation of resources.

Conference/Value in Health Info

2025-05, ISPOR 2025, Montréal, Quebec, CA

Value in Health, Volume 28, Issue S1

Code

HTA81

Topic

Health Technology Assessment

Topic Subcategory

Value Frameworks & Dossier Format

Disease

STA: Personalized & Precision Medicine

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