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构建基因组医学实施的基础设施。

Building an infrastructure to enable delivery of genomic medicine.

机构信息

Concert Genetics, Nashville, Tennessee, USA.

出版信息

Am J Med Genet C Semin Med Genet. 2021 Mar;187(1):95-99. doi: 10.1002/ajmg.c.31881. Epub 2021 Jan 7.

Abstract

To meaningfully address health disparities in access to genomic testing, major developments in the infrastructure to support delivery of care are needed. The current value chain for delivering genomic medicine is fragmented, with poor communication between the stakeholders who order, perform, and reimburse for genetic tests. Standards, connectivity, and scaled expertise are needed to reach more people equitably and achieve healthcare returns on society's investments in genomics. As the costs of genetically-targeted therapeutics and treatments rise, a mature infrastructure to support the delivery of genetic tests becomes critical.

摘要

为了在获得基因组检测方面有意义地解决健康差异问题,需要在支持护理服务的基础设施方面取得重大进展。目前,提供基因组医学的价值链是分散的,下订单、进行和报销基因检测的利益相关者之间沟通不畅。需要有标准、连接性和规模化的专业知识,以便更公平地为更多人提供服务,并实现医疗保健投资的基因组学回报。随着针对遗传的治疗和疗法的成本上升,支持遗传检测的成熟基础设施变得至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d02d/7985861/5bc2b4ed8265/AJMG-187-95-g001.jpg

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