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

镰状细胞和地中海贫血症是遗传性血液病(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处理”，最近被定义为一种紧急的全球健康危机。隐性遗传模式意味着，遗传了两个突变基因副本(来自父母双方)的婴儿将患上严重的血液疾病，需要长期治疗和护理；而只遗传一个副本的携带者不会患上这种疾病。高得多的发病率在低收入和中等收入国家，特别是撒哈拉以南非洲和印度，构成了巨大的医疗挑战。据估计，印度拥有世界上最多的IBD携带者，约为4200万至4500万；印度每年约有22500至37000名IBD婴儿出生。很大一部分人出生在很少或根本无法获得医疗保健的家庭，特别是在农村、贫困、被边缘化的民族和“部落”社区。尽管公共和私营部门都可以获得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%的儿童得到了最佳护理。很少有研究考察携带者筛查的社会和伦理影响，特别是对孕妇的筛查，以及将产前诊断和终止受影响的胎儿作为预防干预措施作为一种“预防”手段的使用。此外，鉴于性别选择性堕胎和市场监管不善的普遍做法，必须审查国家、公共和私营企业挪用基因技术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。这项长达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卫生不平等方面的承诺的背景下，全面分析围绕IBD治疗和预防的政策和实践的社会和伦理影响。我们研究的主要目的是将这些全球辩论与当地形式的参与和治疗性公民身份联系起来，这些形式反映在非政府组织帮助农村、贫困和边缘化社区(可能)受这些疾病影响的人的做法中。为了将我们的实证工作联系起来，我们将首先回顾来自医学人类学、社会学、全球卫生政策和伦理学的文献，以帮助提炼将通过多地点民族志来探索的问题。四个地点的实地工作将涉及主要行为者访谈、跟踪非政府组织、社区焦点小组讨论和从业人员访谈，以及对80户家庭的患者、携带者和两名主要照顾者的深入访谈，这些家庭来自农村/半城市贫困地区和10户具有较高社会经济和城市背景的家庭。这些家庭将在12-14个月内接受三次访问。研究人员将使用主题指南进行采访，内容包括如何识别和治疗IBD，以及与风险和长期护理相关的决定，并为每个家庭维护健康日记，记录疾病、医疗费用和与健康相关的决定。这项研究将提供医学人类学/社会学/生物伦理学的理论见解和实证结果，以便为政策和实践提供信息，说明利用基因组技术作为一种‘预防’隐性基因疾病的手段所产生的深远的社会和伦理影响，以及在整个南亚更广泛的层面上遗传学、族裔/‘种族’、性别、亲属关系、残疾和公民身份之间的交叉。此外，该项目将提供对社区参与模式的方法学见解，在这种模式下，当地用户和社区组织是研究的概念和执行以及基于研究的建议的内在因素，以确保他们与传播计划有利害关系并从传播计划中受益。

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.