{"title":"精准医疗与弗里德里希共济失调：促进公平、惠益和新型基因疗法的知情同意。","authors":"Faith A A Kwa, Evie Kendal","doi":"10.1186/s12939-024-02318-w","DOIUrl":null,"url":null,"abstract":"<p><p>Friedreich Ataxia (FA) is an incurable neurodegenerative disease with systemic consequences affecting vital organs including those of the central and peripheral nervous systems. This article will use FA as an example to explore some of the practical and ethical issues emerging in precision medicine for rare diseases. It will first describe the existing management strategies available for FA patients, before considering the potential impact of gene therapy trials on the prevention and treatment of disease symptoms. Finally, ethical considerations will be discussed, including equity of access and managing resource allocation dilemmas; balancing benefits, burdens and harms; and gaining informed consent for novel treatments.</p>","PeriodicalId":13745,"journal":{"name":"International Journal for Equity in Health","volume":"23 1","pages":"230"},"PeriodicalIF":4.5000,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545357/pdf/","citationCount":"0","resultStr":"{\"title\":\"Precision medicine and Friedreich ataxia: promoting equity, beneficence, and informed consent for novel gene therapies.\",\"authors\":\"Faith A A Kwa, Evie Kendal\",\"doi\":\"10.1186/s12939-024-02318-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Friedreich Ataxia (FA) is an incurable neurodegenerative disease with systemic consequences affecting vital organs including those of the central and peripheral nervous systems. This article will use FA as an example to explore some of the practical and ethical issues emerging in precision medicine for rare diseases. It will first describe the existing management strategies available for FA patients, before considering the potential impact of gene therapy trials on the prevention and treatment of disease symptoms. Finally, ethical considerations will be discussed, including equity of access and managing resource allocation dilemmas; balancing benefits, burdens and harms; and gaining informed consent for novel treatments.</p>\",\"PeriodicalId\":13745,\"journal\":{\"name\":\"International Journal for Equity in Health\",\"volume\":\"23 1\",\"pages\":\"230\"},\"PeriodicalIF\":4.5000,\"publicationDate\":\"2024-11-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545357/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal for Equity in Health\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s12939-024-02318-w\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal for Equity in Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12939-024-02318-w","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}
引用次数: 0
摘要
弗里德里希共济失调症（Friedreich Ataxia，FA）是一种无法治愈的神经退行性疾病，会对包括中枢神经系统和周围神经系统在内的重要器官造成全身性影响。本文将以弗里德雷共济失调为例，探讨罕见病精准医疗中出现的一些实际和伦理问题。文章将首先介绍 FA 患者现有的治疗策略，然后考虑基因治疗试验对预防和治疗疾病症状的潜在影响。最后，还将讨论伦理方面的考虑因素，包括公平获取和管理资源分配困境；平衡益处、负担和危害；以及获得对新型疗法的知情同意。
Precision medicine and Friedreich ataxia: promoting equity, beneficence, and informed consent for novel gene therapies.
Friedreich Ataxia (FA) is an incurable neurodegenerative disease with systemic consequences affecting vital organs including those of the central and peripheral nervous systems. This article will use FA as an example to explore some of the practical and ethical issues emerging in precision medicine for rare diseases. It will first describe the existing management strategies available for FA patients, before considering the potential impact of gene therapy trials on the prevention and treatment of disease symptoms. Finally, ethical considerations will be discussed, including equity of access and managing resource allocation dilemmas; balancing benefits, burdens and harms; and gaining informed consent for novel treatments.
期刊介绍：
International Journal for Equity in Health is an Open Access, peer-reviewed, online journal presenting evidence relevant to the search for, and attainment of, equity in health across and within countries. International Journal for Equity in Health aims to improve the understanding of issues that influence the health of populations. This includes the discussion of political, policy-related, economic, social and health services-related influences, particularly with regard to systematic differences in distributions of one or more aspects of health in population groups defined demographically, geographically, or socially.
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