A Delphi study on valuing DNA sequencing in oncology: a European stakeholder developed framework for assessing next generation sequencing and comprehensive genomic profiling diagnostics.

IF 10.8 1区医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL

EBioMedicine Pub Date : 2025-10-16 DOI:10.1016/j.ebiom.2025.105947

Augustovski Federico, Chavez Danitza, Haig Madeleine, Main Caitlin, Argento Fernando, Colaci Carla, Mills Mackenzie, Alfie Verónica, Pichon-Riviere Andrés, Alcaraz Andrea, Kanavos Panos

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Abstract

Background: Advanced genomic technologies like Next Generation Sequencing and Comprehensive Genomic Profiling are pivotal for the prevention, management and treatment of cancer by identifying crucial genetic markers. However, their adoption in Europe is inconsistent, partly due to the lack of a validated approach to assessing their value.

Methods: A multi-phase mixed-methods approach was implemented, integrating a systematic review and multi-stakeholder consensus-generating Delphi exercise to derive a comprehensive set of value criteria and arrive at a value assessment framework. This value assessment framework adapted an existing Latin American-focused diagnostic framework to the European context. The Delphi included representatives from the broader stakeholder community (patient advocacy, industry, decision-makers, health technology assessment, regulators, academia, and physicians). Over four rounds, participants refined and rated the significance of these criteria in the context of the assessment of the specified technologies in oncology, particularly for reimbursement decisions. Responses were analysed in terms of stability and level of consensus in order to generate a final value assessment framework.

Findings: 34 individuals participated in all rounds of the Delphi exercise. The final value assessment framework includes 8 distinct value criteria, including: clinical impact; test performance and quality; quality of scientific evidence; non-clinical impact; impact on health system integration, organisation and delivery of care; economic aspects; ethical and governance concerns; and health system priorities. Within these criteria, a total of 27 distinct sub-criteria were identified, 23 of which had consensus as 'important' or 'very important' in assessing value.

Interpretation: The resultant value assessment framework is validated by a wide range of key European stakeholders and enables systematic assessment of Next Generation Sequencing and Comprehensive Genomic Profiling technologies used in oncology diagnostics within the European setting. The framework includes aspects that are not adequately considered in current health technology assessment and goes beyond existing value assessment frameworks through the inclusion of newer criteria such as data governance concerns.

Funding: Funding was provided by the Precision Cancer Consortium with an unrestricted educational grant.

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评估肿瘤DNA测序的德尔菲研究：欧洲利益相关者开发的评估下一代测序和全面基因组分析诊断的框架。

背景：下一代测序和综合基因组分析等先进的基因组技术通过识别关键的遗传标记，对癌症的预防、管理和治疗至关重要。然而，它们在欧洲的采用并不一致，部分原因是缺乏评估其价值的有效方法。方法：采用了一种多阶段混合方法方法，整合了系统审查和多利益相关者达成共识的德尔菲练习，以得出一套全面的价值标准，并得出价值评估框架。这一价值评估框架将现有的以拉丁美洲为重点的诊断框架适应了欧洲的情况。德尔菲包括来自更广泛的利益相关者群体的代表（患者倡导、行业、决策者、卫生技术评估、监管机构、学术界和医生）。在四个回合中，参与者在肿瘤特定技术评估的背景下对这些标准的重要性进行了改进和评价，特别是在报销决策方面。根据稳定性和协商一致程度对答复进行了分析，以产生最终的价值评估框架。结果：34个人参加了所有回合的德尔菲练习。最终价值评估框架包括8个不同的价值标准，包括：临床影响；测试性能和质量；科学证据的质量；非临床的影响;对卫生系统整合、组织和提供保健的影响；经济方面;道德和治理问题；以及卫生系统的优先事项。在这些标准中，共确定了27个不同的子标准，其中23个在评估价值时被公认为“重要”或“非常重要”。解释：由此产生的价值评估框架得到了广泛的欧洲关键利益相关者的验证，并能够对欧洲环境中用于肿瘤诊断的下一代测序和综合基因组分析技术进行系统评估。该框架包括在当前卫生技术评估中未得到充分考虑的方面，并通过纳入数据治理问题等新标准超越了现有的价值评估框架。经费：由精密癌症协会提供无限制的教育补助金。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

EBioMedicine Biochemistry, Genetics and Molecular Biology-General Biochemistry,Genetics and Molecular Biology

CiteScore

17.70

自引率

0.90%

发文量

579

审稿时长

5 weeks

期刊介绍： eBioMedicine is a comprehensive biomedical research journal that covers a wide range of studies that are relevant to human health. Our focus is on original research that explores the fundamental factors influencing human health and disease, including the discovery of new therapeutic targets and treatments, the identification of biomarkers and diagnostic tools, and the investigation and modification of disease pathways and mechanisms. We welcome studies from any biomedical discipline that contribute to our understanding of disease and aim to improve human health.