Care delivery considerations for widespread and equitable implementation of inherited cancer predisposition testing.
Care delivery considerations for widespread and equitable implementation of inherited cancer predisposition testing.
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DOI：
10.1080/14737159.2017.1267567
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发表时间：
2017-01
影响因子：
5.1
通讯作者：
Pal T
中科院分区：
文献类型：
--
作者：
Cragun D;Kinney AY;Pal T
通过下一代测序技术（NGS）和一些实践变化事件，DNA测序的进步导致了遗传癌症易感性检测范式的转变。这些变化需要一种手段，在不不必要地增加医疗费用和加剧健康差距的情况下，最大限度地提高健康效益。基于ngs的检测包括多基因组检测、全外显子组测序和全基因组测序，所有这些都可以同时检测多个基因，而以前的测序做法是依次检测一个或两个基因。采用生态学的方法，本文综合了目前的文献，从个体患者、人际关系、组织、社区和政策层面考虑这些进步的广泛影响。此外，作者还描述了影响基因检测和后续护理的多层次因素如何揭示了如果这些问题得不到解决，扩大现有健康差距的巨大潜力。当我们考虑以成本有效的方式从测试中最大化患者利益的方法时，从多个层面考虑观点是很重要的。需要这些信息来指导干预措施的发展，以便所有人群都能实现基因组检测的承诺，而不论种族、民族和支付能力如何。
DNA sequencing advances through next-generation sequencing (NGS) and several practice changing events, have led to shifting paradigms for inherited cancer predisposition testing. These changes necessitated a means by which to maximize health benefits without unnecessarily inflating healthcare costs and exacerbating health disparities. NGS-based tests encompass multi-gene panel tests, whole exome sequencing, and whole genome sequencing, all of which test for multiple genes simultaneously, compared to prior sequencing practices through which testing was performed sequentially for one or two genes. Taking an ecological approach, this article synthesizes the current literature to consider the broad impact of these advances from the individual patient-, interpersonal-, organizational-, community- and policy-levels. Furthermore, the authors describe how multi-level factors that impact genetic testing and follow-up care reveal great potential to widen existing health disparities if these issues are not addressed. As we consider ways to maximize patient benefit from testing in a cost effective manner, it is important to consider perspectives from multiple levels. This information is needed to guide the development of interventions such that the promise of genomic testing may be realized by all populations, regardless of race, ethnicity and ability to pay.
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