Suppr超能文献

实现基因组学和精准医学中的公平健康:公共卫生的当务之急。

Health equity in the implementation of genomics and precision medicine: A public health imperative.

机构信息

Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA.

Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA.

出版信息

Genet Med. 2022 Aug;24(8):1630-1639. doi: 10.1016/j.gim.2022.04.009. Epub 2022 Apr 28.

Abstract

Recent reviews have emphasized the need for a health equity agenda in genomics research. To ensure that genomic discoveries can lead to improved health outcomes for all segments of the population, a health equity agenda needs to go beyond research studies. Advances in genomics and precision medicine have led to an increasing number of evidence-based applications that can reduce morbidity and mortality for millions of people (tier 1). Studies have shown lower implementation rates for selected diseases with tier 1 applications (familial hypercholesterolemia, Lynch syndrome, hereditary breast and ovarian cancer) among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade.

摘要

最近的评论强调了在基因组学研究中需要制定健康公平议程。为了确保基因组学发现能够改善所有人群的健康结果,健康公平议程需要超越研究。基因组学和精准医学的进步带来了越来越多的循证应用,这些应用可以减少数百万人的发病率和死亡率(一级)。研究表明,在少数族裔群体、农村社区、没有保险或保险不足的人群以及受教育程度和收入较低的人群中,具有一级应用的某些疾病(家族性高胆固醇血症、林奇综合征、遗传性乳腺癌和卵巢癌)的实施率较低。我们认为需要制定公共卫生议程来解决基因组学和精准医学实施方面的差异。公共卫生行动可以以特定人群的需求和结果评估、政策和证据制定以及确保提供有效和合乎道德的干预措施为中心。至关重要的公共卫生活动还包括让社区参与、建立联盟、提高遗传健康素养以及建设多元化的劳动力队伍。如果没有协调一致的公共卫生行动,未来十年,具有广泛应用潜力的基因组学进一步发展可能会导致健康差距进一步扩大。

相似文献

1
Health equity in the implementation of genomics and precision medicine: A public health imperative.
Genet Med. 2022 Aug;24(8):1630-1639. doi: 10.1016/j.gim.2022.04.009. Epub 2022 Apr 28.
2
How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?
Ethn Dis. 2019 Dec 12;29(Suppl 3):623-628. doi: 10.18865/ed.29.S3.623. eCollection 2019.
3
Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field.
Ethn Dis. 2019 Feb 21;29(Suppl 1):187-192. doi: 10.18865/ed.29.S1.187. eCollection 2019.
4
"Equity" in genomic health policies: a review of policies in the international arena.
Front Public Health. 2024 Dec 20;12:1464701. doi: 10.3389/fpubh.2024.1464701. eCollection 2024.
5
Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations.
Circ Res. 2019 Jun 21;125(1):7-13. doi: 10.1161/CIRCRESAHA.119.314970. Epub 2019 Jun 20.
6
Precision health equity for racialized communities.
Int J Equity Health. 2023 Dec 12;22(1):259. doi: 10.1186/s12939-023-02049-4.
7
Nursing strategies to address health disparities in genomics-informed care: a scoping review.
JBI Evid Synth. 2024 Nov 1;22(11):2267-2312. doi: 10.11124/JBIES-24-00009.
8
Proposed outcomes measures for state public health genomic programs.
Genet Med. 2018 Sep;20(9):995-1003. doi: 10.1038/gim.2017.229. Epub 2018 Jan 4.
9
Public health action in genomics is now needed beyond newborn screening.
Public Health Genomics. 2012;15(6):327-34. doi: 10.1159/000341889. Epub 2012 Sep 11.
10
Expert and Advocacy Group Consensus Findings on the Horizon of Public Health Genetic Testing.
Healthcare (Basel). 2016 Jan 27;4(1):14. doi: 10.3390/healthcare4010014.

引用本文的文献

3
Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients.
Rev Assoc Med Bras (1992). 2025 Aug 15;71(7):e20250086. doi: 10.1590/1806-9282.20250086. eCollection 2025.
4
A Value Framework for Evaluating Population Genomic Programs: A Mixed Methods Approach.
J Pers Med. 2025 Jul 12;15(7):307. doi: 10.3390/jpm15070307.
10
Emerging and evolving values in the changing landscape of genomics.
Front Genet. 2025 Apr 25;16:1566291. doi: 10.3389/fgene.2025.1566291. eCollection 2025.

本文引用的文献

2
Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies.
JAMA Netw Open. 2021 Nov 1;4(11):e2133205. doi: 10.1001/jamanetworkopen.2021.33205.
3
COVID-19, Racism, and Public Health Infrastructure.
Am J Public Health. 2021 Oct;111(S3):S172. doi: 10.2105/AJPH.2021.306505.
4
Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond.
J Genet Couns. 2021 Aug;30(4):1038-1045. doi: 10.1002/jgc4.1469. Epub 2021 Jul 21.
5
Addressing health disparities in cancer with genomics.
Nat Rev Genet. 2021 Oct;22(10):621-622. doi: 10.1038/s41576-021-00390-4.
6
What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing?
J Law Biosci. 2020 Dec 11;7(1):lsaa071. doi: 10.1093/jlb/lsaa071. eCollection 2020 Jan-Dec.
8
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
JAMA Cardiol. 2021 Aug 1;6(8):902-909. doi: 10.1001/jamacardio.2021.1301.
9
Modernizing family health history: achievable strategies to reduce implementation gaps.
J Community Genet. 2021 Jul;12(3):493-496. doi: 10.1007/s12687-021-00531-6. Epub 2021 May 24.
10
Precision medicine needs an equity agenda.
Nat Med. 2021 May;27(5):737. doi: 10.1038/s41591-021-01373-y.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验