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

镰状细胞病和地中海贫血是遗传性血液疾病（IBD）的两种形式，被世卫组织归类为“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卫生危机。隐性遗传的模式意味着继承了两个突变基因拷贝（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；而只遗传一个拷贝的携带者则不会患上这种疾病。高得多的发病率给低收入和中等收入国家，特别是撒哈拉以南非洲和印度带来了重大的卫生保健挑战。据估计，印度是世界上IBD携带者数量最多的国家，约有4200万至4500万；每年大约有22500 - 37000名患有IBD的婴儿出生。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、边缘化的族裔和“部落”社区。尽管公共和私营部门都可以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。很少有研究检查携带者筛查的社会和伦理影响，特别是孕妇，以及使用产前诊断和终止受影响胎儿，作为预防性干预措施作为“预防”手段。此外，鉴于性别选择性堕胎的普遍做法和监管不善的市场，必须审查国家、公共和私营企业对基因技术的挪用如何可能进一步加剧与种族、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卫生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影响进行全面分析。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公民联系起来，这些参与和治疗公民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们的实践中。为了将我们的实证工作置于背景中，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，以帮助完善通过多地点民族志探索的问题。四个地点的实地考察将包括主要行为者访谈、跟随非政府组织、社区焦点小组讨论和从业者访谈，以及对来自农村/半城市贫困地区的80个家庭的患者、携带者和两名主要护理人员的深入访谈，以及来自较高社会经济和城市背景的10个家庭的访谈。这些家庭将在12-14个月内被访问三次。研究人员将使用主题指南进行访谈，了解如何识别和治疗IBD，以及与风险和长期护理相关的决策，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策。该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研究结果，为政策和实践提供信息，以了解使用基因组技术作为“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，以及南亚更广泛层面上遗传学、族裔/“种族”、性别、亲属关系、残疾和公民身份之间的交集。此外，该项目将为社区参与模式提供方法论见解，在这种模式下，当地用户和社区组织是研究概念和执行以及基于研究的建议的内在因素，以确保他们有利益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.