Introduktion av precisionsdiagnostik i svensk hälso- och sjukvård: En hälsoekonomisk och organisatorisk konsekvensanalys av helgenomsekvensering vid barncancer

Sammanfattning

Precision medicine is transforming healthcare by enabling diagnostics and treatment tailored to each patient’s unique biological characteristics. Whole genome sequencing and whole transcriptome sequencing (WGTS) have recently been introduced as clinical routine for pediatric cancer in Sweden, but the health economic and organizational consequences of this shift have not yet been fully mapped. The purpose of this study is to describe and analyze the health economic and organizational consequences of different decision scenarios when introducing WGTS for pediatric cancer at Karolinska University Hospital, and how relevant stakeholders relate to these scenarios. The study is delimited to solid malignant pediatric tumors and direct costs. The study is designed as a scenario-based case study where Scenario 0, conventional diagnostics, is compared with Scenario 1, WGTS-based diagnostics. The empirical material is based on semi-structured interviews with seven respondents and document studies of published literature and internal reports. The analysis is structured around four theoretical frameworks: Grönroos’ basic service package, health economic theory, investment appraisal, and stakeholder theory. The results show that WGTS contributes higher diagnostic precision, the ability to revise incorrect diagnoses, and identification of actionable treatment targets, but requires a more complex diagnostic workflow involving more actors, new digital infrastructure, and broader competencies. From a health economic perspective, available data indicate that Scenario 1 creates broader value, but the absence of long-term data precludes a full cost-utility analysis. The investment appraisal shows that WGTS entails an incremental cost for the healthcare provider, which at an assumed annual price reduction of ten percent is expected to reach parity with Scenario 0 around 2034. The stakeholder analysis shows that implementation was driven by clinical conviction and professional consensus rather than formal health economic evidence, and that current reimbursement models are not designed to handle the asymmetry that arises when costs are borne by the hospital while benefits are realized in other parts of the public sector and over longer time horizons. The study shows that WGTS for pediatric cancer entails higher initial costs and increased organizational complexity for the healthcare provider, while at the same time creating conditions for improved diagnostics and broader societal value. Stakeholders are consistently positive, but their support is conditional on the development of organizational and economic prerequisites in pace with the technology. The tensions identified in the study, including the asymmetry between where costs arise and where benefits are realized, are likely relevant also for other therapeutic areas facing similar implementation decisions.