Supplementary Material for: Unlocking Access to Broad Molecular Profiling: Benefits, Barriers, and Policy Solutions

Objectives: “Personalized healthcare” is generating new approaches to disease management by considering inter-individual variability in genes, environment, and lifestyle. Technologies such as comprehensive genomic profiling (CGP) are drivers of this shift. Here, we address the significant hurdles to the equitable implementation of CGP into routine clinical practice. Methods: This article draws on published evidence on the value of genomic profiling, as well as interviews with nine academic and clinical experts from six different countries to validate findings and test policy proposals for reforms. Results: The potential benefits of CGP extend beyond direct patient outcomes, to healthcare systems with societal and economic impacts. Among key barriers impeding integration into routine clinical practice are the lack of infrastructure to ensure reliable clinical testing and the limited understanding of genomics among healthcare personnel. In addition, the absence of health economic evidence supporting broader use of CGP is creating concerns for payers regarding the systemic benefits and affordability of this technology. Conclusion: Policy proposals that aim to improve equitable patient access to CGP will need to consider new funding models, health technology assessment processes that capture both patient and systemic benefits, and appropriate regulatory standards to determine the quality of genomic profiling tests.

目标：个性化医疗（Personalized healthcare）通过考量基因、环境与生活方式层面的个体间差异，正催生疾病管理的全新范式。综合基因组测序（comprehensive genomic profiling, CGP）等技术正是这一变革的核心驱动力。本文旨在攻克CGP公平融入常规临床实践所面临的诸多重大障碍。
方法：本文整合了基因组测序价值相关的已发表研究证据，并对来自6个国家的9位学术与临床专家开展访谈，以验证研究结论并测试改革相关的政策提案。
结果：CGP的潜在益处不仅局限于患者个体的直接诊疗结局，更能为医疗保健系统带来兼具社会效益与经济效益的多重价值。阻碍其融入常规临床实践的核心障碍包括：缺乏保障检测可靠性所需的临床基础设施，以及医疗从业人员对基因组学知识的认知不足。此外，缺乏支持CGP广泛应用的卫生经济学证据，也令支付方对该技术的系统性效益与可负担性存在疑虑。
结论：旨在提升患者公平获取CGP机会的政策提案，需兼顾新型筹资模式、同时覆盖患者与系统效益的卫生技术评估（health technology assessment）流程，以及用于规范基因组测序检测质量的适配性监管标准。