Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Headington, Oxford, Oxfordshire, OX3 7LF, UK.
Pharmacogenomics. 2013 Nov;14(15):1833-47. doi: 10.2217/pgs.13.183.
Genomic interventions could enable improved disease stratification and individually tailored therapies. However, they have had a limited impact on clinical practice to date due to a lack of evidence, particularly economic evidence. This is partly because health economists are yet to reach consensus on whether existing methods are sufficient to evaluate genomic technologies. As different approaches may produce conflicting adoption decisions, clarification is urgently required. This article summarizes the methodological issues associated with conducting economic evaluations of genomic interventions.
MATERIALS & METHODS: A structured literature review was conducted to identify references that considered the methodological challenges faced when conducting economic evaluations of genomic interventions.
Methodological challenges related to the analytical approach included the choice of comparator, perspective and timeframe. Challenges in costing centered around the need to collect a broad range of costs, frequently, in a data-limited environment. Measuring outcomes is problematic as standard measures have limited applicability, however, alternative metrics (e.g., personal utility) are underdeveloped and alternative approaches (e.g., cost-benefit analysis) underused. Effectiveness data quality is weak and challenging to incorporate into standard economic analyses, while little is known about patient and clinician behavior in this context. Comprehensive value of information analyses are likely to be helpful.
Economic evaluations of genomic technologies present a particular challenge for health economists. New methods may be required to resolve these issues, but the evidence to justify alternative approaches is yet to be produced. This should be the focus of future work in this field.
基因组干预措施可以实现疾病的更好分层和个体化治疗。然而，由于缺乏证据，尤其是经济证据，迄今为止，它们对临床实践的影响有限。部分原因是健康经济学家尚未就现有方法是否足以评估基因组技术达成共识。由于不同的方法可能会产生相互矛盾的采用决策，因此迫切需要澄清。本文总结了评估基因组干预措施的经济效果时所涉及的方法学问题。
进行了系统的文献回顾，以确定考虑在评估基因组干预措施的经济效果时所面临的方法学挑战的参考文献。
与分析方法相关的方法学挑战包括对照选择、视角和时间范围。成本方面的挑战主要集中在需要收集广泛的成本上，而且通常在数据有限的环境中进行。由于标准衡量标准的适用性有限，因此衡量结果存在问题，但是替代指标（例如个人效用）还不够发达，替代方法（例如成本效益分析）的应用也不足。有效性数据质量较差，难以纳入标准经济分析，而在这种情况下，患者和临床医生的行为知之甚少。全面的信息价值分析可能会有所帮助。
基因组技术的经济评估对健康经济学家来说是一个特殊的挑战。可能需要新的方法来解决这些问题，但是尚未产生支持替代方法的证据。这应该是该领域未来工作的重点。
