A Stakeholder-Informed Conceptual Framework for Evaluating Genomics in Precision Oncology

This dissertation explores the value of genomic testing in precision oncology with an emphasis on how US payers conceptualize and prioritize elements of value. This research aims to address gaps in understanding payer perspectives and proposes a stakeholder-informed framework for evaluating genomic testing in oncology. To achieve this aim, the presented research investigates payer perspectives, value-based cancer care priorities, and the conceptual understanding of the value of a genetic diagnosis to establish a framework for value with the payer audience in mind. Chapter 1 outlines relevant background information relating to the genomic revolution and challenges in translating genomic testing technologies within existing medical frameworks. Chapter 2 presents a systematic literature review examining US payer perspectives on genomic testing. A structured search of peer-reviewed databases identified 20 relevant studies, which were analyzed using a framework approach to categorize key domains of interest. The review revealed that payers prioritize clinical utility—defined as improved health outcomes—but grapple with the complexities of applying traditional coverage frameworks to genomic tests. Additional domains influencing payer decision-making included cost considerations, potential harms, demand pressures, and the challenge of "paying for research" when tests lack robust evidence. Chapter 3 investigates payer priorities for value-based cancer care through a survey of 31 US payers involved in coverage policy. Respondents ranked and rated nine domains of value-based care, highlighting a preference for clinical outcomes such as overall survival, quality of life, and treatment-related toxicities over systemic factors like healthcare system costs and scientific innovation. Notably, payers consistently emphasized clinical evidence tied to patient outcomes as a primary driver of value which underscores the need for targeted evidence-generation strategies aligning with payer expectations. Chapter 4 conducts a concept analysis to further clarify the notion of "value" in the context of genetic diagnoses. This analysis synthesizes definitions from professional societies and regulatory agencies as well as literature reporting patient, clinician, and payer perspectives, revealing that value encompasses not only clinical utility but also broader patient-centered and societal outcomes. The chapter identifies key attributes of value—such as health outcomes, quality of life outcomes, costs, process outcomes, and discovery/innovation—and discusses their relevance to stakeholders. Collectively presented in chapter 5, these findings inform the development of a conceptual framework designed to guide payers in evaluating genomic testing in oncology through evidence and outcomes. The framework integrates stakeholder perspectives and balances clinical outcomes, economic considerations, and patient-centered benefits. This work offers practical insights for policymakers, researchers, and healthcare providers, advancing the conversation on value assessment in precision oncology and supporting more transparent, evidence-based payer decisions.