Inherited Blood Disorders, India, 2017-2019

The data files summarise information on demographic features of each of the 100 household, sampled from across three sites (Delhi, Maharshtra, Rajasthan). These also contain anonymised description of sample details of the healthcare and policy practioners from four sites (3 above and Gujarat). The files also include consent and information sheets for both the data sets; topic guides for in depth interviews and vignettes used in the final phase of household interviews. Some of the files have Hindi translations inserted into the module since a majority of the research team (ISERDD, Delhi) are Hindi speakers as were our participants. In a limited number of situations, we had to use translators (as recorded into relevant file). All the modules and guides were translated into Hindi. These translated versions are not included here since you need a special font to be able to read these.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.