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实施可持续基因组医学计划的机会:来自 IGNITE 网络的经验教训。

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

机构信息

Indiana University School of Medicine Indianapolis, Indianapolis, Indiana, USA.

Nemours Children's Specialty Care Jacksonville, Jacksonville, Florida, USA.

出版信息

Genet Med. 2019 Mar;21(3):743-747. doi: 10.1038/s41436-018-0080-y. Epub 2018 Jul 12.

Abstract

PURPOSE

While there is growing scientific evidence for and significant advances in the use of genomic technologies in medicine, there is a significant lag in the clinical adoption and sustainability of genomic medicine. Here we describe the findings from the National Human Genome Research Institute's (NHGRI) Implementing GeNomics In pracTicE (IGNITE) Network in identifying key constructs, opportunities, and challenges associated with driving sustainability of genomic medicine in clinical practice.

METHODS

Network members and affiliates were surveyed to identify key drivers associated with implementing and sustaining a genomic medicine program. Tallied results were used to develop and weigh key constructs/drivers required to support sustainability of genomic medicine programs.

RESULTS

The top three driver-stakeholder dyads were (1) genomic training for providers, (2) genomic clinical decision support (CDS) tools embedded in the electronic health record (EHR), and (3) third party reimbursement for genomic testing.

CONCLUSION

Priorities may differ depending on healthcare systems when comparing the current state of key drivers versus projected needs for supporting genomic medicine sustainability. Thus we provide gap-filling guidance based on IGNITE members' experiences. Although results are limited to findings from the IGNITE network, their implementation, scientific, and clinical experience may be used as a road map by others considering implementing genomic medicine programs.

摘要

目的

虽然基因组技术在医学中的应用有越来越多的科学证据和重大进展,但基因组医学的临床应用和可持续性仍存在显著滞后。本文描述了国家人类基因组研究所(NHGRI)实施基因组实践(IGNITE)网络的研究结果,该网络旨在确定与推动临床实践中基因组医学可持续性相关的关键构建、机会和挑战。

方法

对网络成员和附属机构进行了调查,以确定与实施和维持基因组医学计划相关的主要驱动因素。汇总的结果用于开发和权衡支持基因组医学计划可持续性所需的关键构建/驱动因素。

结果

排名前三的驱动因素-利益相关者对是(1)为提供者提供基因组培训,(2)嵌入电子健康记录(EHR)的基因组临床决策支持(CDS)工具,以及(3)第三方报销基因组检测费用。

结论

当比较支持基因组医学可持续性的关键驱动因素的当前状态与预测需求时,优先事项可能因医疗保健系统而异。因此,我们根据 IGNITE 成员的经验提供了填补空白的指导。尽管结果仅限于 IGNITE 网络的发现,但他们的实施、科学和临床经验可以被其他考虑实施基因组医学计划的人用作路线图。

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