Doctoral Dissertation Research: The Integration of Extra-Clinical Contexts and Genetic Disease Diagnosis

遗传医学已成为全球医疗保健和研究的重点。然而，特定疾病在不同人群中的流行率不同，这一发现引起了超越生物学的问题和关切。 这些问题包括：诊断是否会成为在资助研究或提供治疗方面实行歧视的动力？疾病与亚群体之间的联系是否会成为政治组织或社会和文化分化的工具？该奖项支持的人类学研究将通过关注镰状细胞病来调查这些问题，镰状细胞病是一组影响血液携带氧气能力的血液疾病。镰状细胞病是世界上最常见的遗传病，影响多达10万美国人。由于镰状细胞的分布也是不均匀的，因此它是一个适当的领域，用于调查对基因和社会生活之间关系的理解变化的关注。遗传疾病日益主导全球生物医学领域，本项目将有助于了解这些变化的社会政治影响。这项研究将由康奈尔大学人类学博士生Rebekah Cirivani在Stacey Langwick博士的指导下进行。研究人员选择在坦桑尼亚进行这项研究，因为坦桑尼亚是世界上出生时患有镰状细胞病的儿童比例最高的国家之一。由于坦桑尼亚的镰状细胞病处于不断增长的基础设施、宣传、研究和护理网络的中心，包括广泛的测试，该疾病在公共论坛上得到了广泛的讨论，这将使任何社会政治关系更容易发现和跟踪，而不是在该疾病不太常见或不太被谈论的情况下。研究人员已经确定了该国的两个地区，姆万扎和桑给巴尔，那里的人们正在与镰状细胞病作斗争，但那里的政治，种族和社会历史，他们通过这种遗传性疾病的意义是非常不同的。这笔资金用于研究的第二阶段，即在桑给巴尔进行的部分。研究人员将从（1）在医院环境中从事镰状细胞病护理的医生;（2）镰状细胞倡导小组参与者;和（3）诊断的家庭收集数据。她将采用混合方法的社会科学方法，包括：档案和话语分析;在医院诊所的参与观察;和诊断的家庭访谈和生活史访谈。调查人员将在桑给巴尔背景下收集的数据与在姆万扎收集的数据之间进行比较，特别注意围绕血液的新兴主题;亲属关系（例如，继承和生殖）;种族和族裔;以及民族。由此产生的分析将评估遗传医学如何与临床外环境相结合。本研究的结果将为遗传医学的伦理、法律的和社会影响（ELSI）文献提供重要贡献。这项研究的结果将有助于社会科学理论和改善政策，有关遗传医学基础设施的日益蔓延。这个奖项反映了NSF的法定使命，并已被认为是值得支持的，通过评估使用基金会的知识价值和更广泛的影响审查标准。

Genetic medicine has emerged as a global healthcare and research priority. However, the finding that specific diseases vary in prevalence across populations has given rise to questions and concerns that extend beyond the biological. These are such questions as, Will diagnosis become the impetus for discrimination in the funding of research or the availability of treatment? Could an association between diseases and sub-populations become a tool for political organizing or social and cultural differentiation? The anthropological research supported by this award will investigate these issues through a focus on sickle cell disease, a group of blood disorders that affects the blood's ability to carry oxygen. Sickle cell is the most common genetic disease worldwide and affects as many as 100,000 Americans. Because sickle cell is also uneven in its distribution, it is an appropriate domain for investigating concerns about changing understandings of the relationship between genes and social life. Genetic diseases increasingly dominate the landscape of biomedicine worldwide, and this project will help to understand the socio-political implications of these shifts. The research will be conducted by Cornell University anthropology doctoral student, Rebekah Ciribassi, with guidance from Dr. Stacey Langwick. The researcher has chosen to conduct the research in Tanzania, because it has one of the world's highest rates of children born with sickle cell disease. Because sickle cell in Tanzania is at the center of a growing network of infrastructure, advocacy, research, and care, including widespread testing, the disease is discussed widely in the public forum, which will make any socio-political relationships easier to uncover and track over time than would be the case where the disease is less common or less talked about. The researcher has identified two areas of the country, Mwanza and Zanzibar, where people are grappling with sickle cell disease but where the political, racial, and social histories through which they make sense of an inherited disease are very different. This funding is for the second phase of the research, the component to be carried out in Zanzibar. The investigators will gather data from (1) medical practitioners who work in sickle cell disease care in a hospital setting; (2) sickle cell advocacy group participants; and (3) diagnosed families. She will employ a mix-method social science approach including: archival and discourse analysis; participant observation in hospital clinics; and interviews and life history interviews with diagnosed families. The investigators will build a comparison between the data collected in the Zanzibari context and the data collected in Mwanza, with special attention to emergent themes around blood; kinship (e.g., inheritance and reproduction); race and ethnicity; and nation. The resulting analysis will assess how genetic medicine integrates with extra-clinical contexts. The results of this research will offer an important contribution to literature on the Ethical, Legal, and Social Implications (ELSI) of genetic medicine. Findings from this research will contribute to social scientific theory and to improved policy regarding the increasing spread of genetic medical infrastructures.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.