Inherited blood disorders, globalisation and the promise of genomics: An Indian case-study

遗传性血液疾病、全球化和基因组学的前景：印度案例研究

• 批准号: ES/N015665/1
• 负责人: Sangeeta Chattoo
• 金额: $ 67.26万
• 依托单位: University of York
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2016
• 资助国家: 英国
• 起止时间: 2016 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=ES%2FN015665%2F1
• 关键词: Inherited; blood; disorders; globalisation; promise

Sickle cell and thalassaemia, forms of inherited blood disorders (IBD), classified by the WHO under 'prevention and management of inherited birth defects', have recently been defined as an emergent global health crisis. The pattern of recessive inheritance implies that babies who inherit two copies of a mutant gene (from both parents) will have a serious blood disorder, needing long term treatment and care; while carriers who inherit only one copy will not have the disease. A much higher incidence poses significant healthcare challenges in low and middle income countries, especially sub-Saharan Africa and India. India is estimated to have the largest number of carriers of IBD in the world, around 42-45 million; where approximately 22,500- 37,000 babies with IBD are born each year. A significant proportion are born in households with little or no access to healthcare, especially in the rural, poor, marginalised ethnic and 'tribal' communities. Despite cheap diagnostic tests and treatments, including curative stem cell transplants, available across public and private sectors, only 5-10 percent of children receive optimal care in India. There is little research examining the social and ethical reverberations of carrier screening, especially of pregnant women, and the use of prenatal diagnosis and termination of affected foetuses, as preventive interventions as a means of 'prevention'. Further, it is imperative to examine how, given the widespread practice of sex selective abortions and poorly regulated markets, an appropriation of genetic technologies by state, public as well as private enterprise might further exacerbate existing structural inequalities related to ethnicity, caste, gender and disability. This 40 month long, Indian case-study will provide a comprehensive analysis of the social and ethical reverberations of policies and practices surrounding the treatment and 'prevention' of IBD, within the context of globalisation and the promise of genomics in reducing health inequities in the global South. The main aim of our research is to relate these global debates to local forms of engagement and therapeutic citizenship reflected in the practices of NGOs helping people (potentially) affected by these disorders in the rural, poor and marginalised communities. To contextualise our empirical work, we will first review literature from medical anthropology, sociology, global health policy and ethics to help refine the questions to be explored through a multi-sited ethnography. Fieldwork across four sites will involve main actor interviews, shadowing NGOs, community focus group discussions and practitioner interviews, as well as in-depth interviews with patients, carriers and two main carers in 80 households, from rural/semi urban poor areas and 10 households from a higher socio-economic, urban background. These households will be visited three times over 12-14 months. Researchers will use a topic guide for interviews on how IBD are recognised and treated, and decisions related to risk and long term care, and maintain health diaries for each family with a record of illnesses, health expenses and decisions related to health. The research will provide theoretical insights from medical anthropology/ sociology/ bioethics and the empirical findings to inform policy and practice on the far reaching social and ethical ramifications of the use of genomic technologies as a means of 'prevention' of recessive gene disorders in particular, and the intersections between genetics, ethnicity/ 'race', gender, kinship, disability and citizenship at a broader level across South Asia. Further, the project will provide methodological insights into a model of community engagement, where the local users and community organisations are intrinsic to the conception and execution of the research as well as the recommendations based on the research, to ensure that they have a stake and benefit from the dissemination plan.

镰状细胞和地中海贫血是遗传性血液病（IBD）的一种形式，被世界卫生组织归类为“遗传性出生缺陷的预防和管理”，最近被定义为一种紧急的全球健康危机。隐性遗传的模式意味着，继承了两份突变基因（来自父母双方）的婴儿将患有严重的血液疾病，需要长期治疗和护理;而只继承一份突变基因的携带者则不会患病。在低收入和中等收入国家，尤其是撒哈拉以南非洲和印度，高得多的发病率带来了重大的医疗挑战。据估计，印度是世界上IBD携带者数量最多的国家，约为4200万至4500万;每年约有22，500至37，000名IBD婴儿出生。很大一部分人出生在很少或根本得不到医疗保健的家庭，特别是在农村、贫穷、边缘化的族裔和“部落”社区。尽管公共和私营部门都提供廉价的诊断测试和治疗，包括治疗性干细胞移植，但在印度只有5- 10%的儿童得到最佳护理。很少有研究审查的社会和道德反响的载体筛选，特别是孕妇，使用产前诊断和终止受影响的胎儿，作为预防性干预措施作为一种手段的“预防”。此外，鉴于针对胎儿性别进行选择性人工流产的做法普遍存在，而且市场监管不力，必须审查国家、公共和私营企业对遗传技术的占用如何可能进一步加剧与族裔、种姓、性别和残疾有关的现有结构性不平等。这项为期40个月的印度案例研究将在全球化和基因组学在减少全球南方健康不平等方面的承诺的背景下，对围绕IBD治疗和“预防”的政策和实践的社会和伦理反响进行全面分析。我们研究的主要目的是将这些全球性辩论与非政府组织的做法中反映的当地参与形式和治疗性公民身份联系起来，这些非政府组织帮助农村，贫困和边缘化社区受这些疾病影响的人（潜在）。为了使我们的实证工作背景化，我们将首先回顾医学人类学，社会学，全球卫生政策和伦理学的文献，以帮助通过多站点民族志来完善要探索的问题。在四个地点的实地工作将涉及主要行为者访谈，影子非政府组织，社区焦点小组讨论和从业人员访谈，以及对来自农村/半城市贫困地区的80个家庭和来自较高社会经济背景的10个家庭的患者，携带者和两名主要护理人员的深入访谈。在12至14个月内，将对这些家庭进行三次访问。研究人员将使用主题指南进行关于IBD如何识别和治疗的访谈，以及与风险和长期护理相关的决定，并为每个家庭保留健康日记，记录疾病，健康费用和与健康相关的决定。 该研究将提供来自医学人类学/社会学/生物伦理学的理论见解和实证研究结果，为政策和实践提供信息，说明使用基因组技术作为“预防”隐性基因疾病的手段的深远的社会和伦理后果，特别是遗传学，种族/“种族”，性别，亲属关系，残疾和公民身份之间的交叉点。此外，该项目将提供方法上的见解，社区参与的模式，其中当地用户和社区组织是固有的概念和执行的研究以及建议的基础上的研究，以确保他们有利害关系，并受益于传播计划。

项目成果

'Only parents can understand the problems and needs of children with thalassaemia': parental activism for thalassaemia care in Northern India.

“只有父母才能理解地中海贫血儿童的问题和需求”：印度北部地中海贫血护理中家长的积极行动。

• DOI: 10.1080/13648470.2023.2180258
• 发表时间: 2023
• 期刊: Anthropology & medicine
• 影响因子: 1.8
• 作者: Unnithan M

A social profile of deaths related to sickle cell disease in India: a case for an ethical policy response.

• DOI: 10.3389/fpubh.2023.1265313
• 发表时间: 2023
• 期刊: FRONTIERS IN PUBLIC HEALTH
• 影响因子: 5.2
• 作者: Chattoo, Sangeeta;Jain, Dipty;Nashine, Nidhi;Singh, Rajan
• 通讯作者: Singh, Rajan

Disability: An Overview in the Context of Rights of Persons with Disabilities (RPwD) aCT 2016

残疾：残疾人权利背景下的概述 (RPwD) aCT 2016

• 发表时间: 2019
• 作者: Chattoo, S

Representing disabling experiences: Rethinking quality of life when evaluating public health interventions

代表残疾经历：评估公共卫生干预措施时重新思考生活质量

• DOI: 10.1111/polp.12515
• 发表时间: 2023
• 期刊: Politics & Policy
• 影响因子: 1.3
• 作者: Atkin K

How can sociology help address a global health challenge?

社会学如何帮助应对全球健康挑战？

• DOI: 10.33424/futurum298
• 发表时间: 2022
• 期刊: Futurum Careers
• 作者: Chattoo S