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基因组测序:评估医疗保健系统、政策及大数据影响

Genomic sequencing: assessing the health care system, policy, and big-data implications.

作者信息

Phillips Kathryn A, Trosman Julia R, Kelley Robin K, Pletcher Mark J, Douglas Michael P, Weldon Christine B

机构信息

Kathryn A. Phillips (

Julia R. Trosman is codirector of the Center for Business Models in Healthcare, in Chicago, Illinois, and an adjunct faculty member in the Department of Clinical Pharmacy, UCSF.

出版信息

Health Aff (Millwood). 2014 Jul;33(7):1246-53. doi: 10.1377/hlthaff.2014.0020.

Abstract

New genomic sequencing technologies enable the high-speed analysis of multiple genes simultaneously, including all of those in a person's genome. Sequencing is a prominent example of a "big data" technology because of the massive amount of information it produces and its complexity, diversity, and timeliness. Our objective in this article is to provide a policy primer on sequencing and illustrate how it can affect health care system and policy issues. Toward this end, we developed an easily applied classification of sequencing based on inputs, methods, and outputs. We used it to examine the implications of sequencing for three health care system and policy issues: making care more patient-centered, developing coverage and reimbursement policies, and assessing economic value. We conclude that sequencing has great promise but that policy challenges include how to optimize patient engagement as well as privacy, develop coverage policies that distinguish research from clinical uses and account for bioinformatics costs, and determine the economic value of sequencing through complex economic models that take into account multiple findings and downstream costs.

摘要

新的基因组测序技术能够同时对多个基因进行高速分析,包括一个人基因组中的所有基因。测序是“大数据”技术的一个突出例子,因为它产生的信息量巨大,且具有复杂性、多样性和及时性。本文的目的是提供一份关于测序的政策入门指南,并说明它如何影响医疗保健系统和政策问题。为此,我们基于输入、方法和输出,开发了一种易于应用的测序分类方法。我们用它来研究测序对三个医疗保健系统和政策问题的影响:使医疗更以患者为中心、制定覆盖范围和报销政策,以及评估经济价值。我们的结论是,测序前景广阔,但政策挑战包括如何优化患者参与度以及隐私保护,制定区分研究与临床用途并考虑生物信息学成本的覆盖政策,以及通过考虑多种发现和下游成本的复杂经济模型来确定测序的经济价值。

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