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本文引用的文献

1
Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.不明原因发育障碍或多发先天性异常的全基因组测序:一项卫生技术评估
Ont Health Technol Assess Ser. 2020 Mar 6;20(11):1-178. eCollection 2020.
2
Parents' perceptions of personal utility of exome sequencing results.家长对外显子组测序结果个人效用的看法。
Genet Med. 2020 Apr;22(4):752-757. doi: 10.1038/s41436-019-0730-8. Epub 2019 Dec 20.
3
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.满足患者获得正确诊断的权利:罕见病未确诊问题的国际持续行动和伦理社会问题。
Int J Environ Res Public Health. 2018 Sep 21;15(10):2072. doi: 10.3390/ijerph15102072.
4
Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases.对全基因组测序的偏好异质性。一项针对罕见遗传病患儿父母的离散选择实验。
Soc Sci Med. 2018 Oct;214:125-132. doi: 10.1016/j.socscimed.2018.08.015. Epub 2018 Aug 21.
5
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.全外显子组和全基因组测序方法是否具有成本效益?文献系统评价。
Genet Med. 2018 Oct;20(10):1122-1130. doi: 10.1038/gim.2017.247. Epub 2018 Feb 15.
6
Genomic medicine France 2025.2025年法国基因组医学
Ann Oncol. 2018 Apr 1;29(4):783-784. doi: 10.1093/annonc/mdy027.
7
A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.自闭症谱系障碍临床基因组检测策略的微成本和成本后果分析。
Genet Med. 2017 Nov;19(11):1268-1275. doi: 10.1038/gim.2017.47. Epub 2017 May 4.
8
Personal utility in genomic testing: a systematic literature review.基因检测中的个人效用:一项系统的文献综述
Eur J Hum Genet. 2017 Jun;25(6):662-668. doi: 10.1038/ejhg.2017.10. Epub 2017 Mar 15.
9
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.临床全外显子组测序与常规护理的成本效益的前瞻性比较压倒性地支持早期使用和报销。
Genet Med. 2017 Aug;19(8):867-874. doi: 10.1038/gim.2016.221. Epub 2017 Jan 26.
10
The Role of Qualitative Research Methods in Discrete Choice Experiments.定性研究方法在离散选择实验中的作用
Med Decis Making. 2017 Apr;37(3):298-313. doi: 10.1177/0272989X16683934. Epub 2017 Jan 6.

法国基因和基因组检测的价值评估:当前挑战与最新证据

Valuing genetic and genomic testing in France: current challenges and latest evidence.

作者信息

Lejeune Catherine, Amado Ines F

机构信息

Inserm CIC 1432, Clinical Epidemiology Unit, Dijon University Hospital, 7 bd Jeanne d'Arc, 21079, Dijon, France.

Inserm, Health Technologies Institute, Paris, France.

出版信息

J Community Genet. 2022 Oct;13(5):477-485. doi: 10.1007/s12687-020-00503-2. Epub 2021 Jan 16.

DOI:10.1007/s12687-020-00503-2
PMID:33453057
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9530102/
Abstract

High-throughput next-generation sequencing technologies have seen an increase in use in most developed countries. The translation of genomic testing into clinical practice challenges the traditional model of medical care in France and raises numerous medical, legal, ethical, organizational, and financial issues. In order to allow the population to use this revolution to its advantage, France has conceived the French Plan for Genomic Medicine 2025. Its aim is to improve health and quality of life, to organize new pathways of care and counseling, and to make decisions about insurance coverage. It has also been designed to drive innovation and promote economic growth in France by incorporating genomic medicine into the French health care system. These issues can be addressed through evaluations developed to aid the decision-making process in the context of resource scarcity. Health economists can help to resolve these resource allocation challenges by measuring the impact of this technological revolution on patients, caregivers, providers, and the health care system. In this paper, we will review challenges associated with implementing genomic testing in France. One of the pilot studies of the French Plan for Genomic Medicine 2025 will be presented as an illustration of the role of health economists in overcoming some of the challenges of this technological revolution.

摘要

在大多数发达国家,高通量下一代测序技术的使用有所增加。在法国,将基因组检测转化为临床实践对传统医疗模式构成了挑战,并引发了众多医学、法律、伦理、组织和财务问题。为了让民众从这一变革中受益,法国制定了《2025年法国基因组医学计划》。其目标是改善健康和生活质量,规划新的护理和咨询途径,并就保险覆盖范围做出决策。该计划还旨在通过将基因组医学纳入法国医疗体系来推动创新并促进法国的经济增长。在资源稀缺的背景下,可以通过开展评估来辅助决策过程,从而解决这些问题。健康经济学家可以通过衡量这一技术变革对患者、护理人员、医疗服务提供者和医疗体系的影响,帮助解决这些资源分配挑战。在本文中,我们将审视在法国实施基因组检测所面临的挑战。作为健康经济学家在克服这一技术变革的某些挑战中所发挥作用的例证,我们将介绍《2025年法国基因组医学计划》的一项试点研究。