重新设想社区遗传学:预防基因组学中的社区赋权。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-10-01 Epub Date: 2023-02-11 DOI:10.1007/s12687-023-00638-y
Hannah Wand, Daphne O Martschenko, Annamaria Smitherman, Sheryl Michelson, Ting Pun, John S Witte, Stuart A Scott, Mildred K Cho, Euan A Ashley
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引用次数: 0

摘要

随着基因组技术的快速发展,多基因评分(PGS)正在进入一个越来越多的话题,讨论如何提高公共卫生的准确性和预防慢性病。虽然PGS与公共卫生和临床服务的结合带来了潜在的好处,但也带来了潜在危害。特别是,如何以公平、公正的方式将PGS纳入临床环境,并与许多医疗保健系统的长期目标保持一致,以支持以人为中心和基于价值的护理,存在很大的不确定性。本文认为,任何关于是否以及如何设计和实施PGS临床服务的对话都需要与当地社区、患者和家庭进行动态接触。这些方面经常面临这种不确定性的积极和消极后果,因此应该推动临床翻译。作为医院利益相关者、社区合作伙伴和研究人员之间的合作,本文描述了一个社区授权的共同设计过程,用于解决不确定性,并就PGS在临床服务中的实施做出计划决策。我们为其他有兴趣设计对当地社区有响应、包容和尊重的临床项目的人提供了一个框架。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Re-envisioning community genetics: community empowerment in preventive genomics.

As genomic technologies rapidly develop, polygenic scores (PGS) are entering into a growing conversation on how to improve precision in public health and prevent chronic disease. While the integration of PGS into public health and clinical services raises potential benefits, it also introduces potential harms. In particular, there is a high level of uncertainty about how to incorporate PGS into clinical settings in a manner that is equitable, just, and aligned with the long-term goals of many healthcare systems to support person-centered and value-based care. This paper argues that any conversation about whether and how to design and implement PGS clinical services requires dynamic engagement with local communities, patients, and families. These parties often face the consequences, both positive and negative, of such uncertainties and should therefore drive clinical translation. As a collaborative effort between hospital stakeholders, community partners, and researchers, this paper describes a community-empowered co-design process for addressing uncertainty and making programmatic decisions about the implementation of PGS into clinical services. We provide a framework for others interested in designing clinical programs that are responsive to, and inclusive and respectful of, local communities.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
期刊最新文献
Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine. Knowledge and perception of medical students on genetics in the genomic era. Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review. Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry. Factors influencing pregnant women's decision to accept or decline prenatal screening and diagnosis - a qualitative study.
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