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

基因医学已成为全球医疗保健和研究的优先事项。然而，发现特定疾病在不同人群中的流行率不同，引发了超出生物学范围的问题和担忧。这些都是这样的问题，诊断是否会成为研究资金或治疗可获得性方面的歧视的推动力？疾病和亚人群之间的联系能否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疾病来调查这些问题，镰状细胞疾病是一组影响血液携氧能力的血液疾病。镰状细胞是世界上最常见的遗传病，影响着多达10万美国人。由于镰状细胞在其分布上也是不均匀的，它是一个合适的领域，用于研究人们对基因和社会生活之间关系的理解发生变化的担忧。遗传病日益主导着世界生物医学的版图，该项目将有助于理解这些转变的社会政治影响。这项研究将由康奈尔大学人类学博士生丽贝卡·西里巴西在斯泰西·朗威克博士的指导下进行。这位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疾病的儿童比例最高的国家之一。由于坦桑尼亚的镰状细胞处于不断扩大的基础设施、倡导、研究和护理网络的中心，包括广泛的检测，这种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随着时间的推移更容易发现和追踪，而不是在疾病不太常见或更少被谈论的情况下。这位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疾病作斗争，但他们对遗传病的理解所依据的政治、种族和社会历史却截然不同。这笔资金用于研究的第二阶段，该部分将在桑给巴尔进行。调查人员将收集来自(1)在医院环境中从事镰状细胞疾病护理的医生；(2)镰状细胞倡导团体参与者；以及(3)确诊家庭的数据。她将采用一种混合的社会科学方法，包括：档案和话语分析；医院诊所的参与者观察；以及对确诊家庭的访谈和生活史访谈。调查人员将对在桑给巴里收集的数据和在姆万扎收集的数据进行比较，特别注意关于血缘关系、亲属关系(例如，遗传和生殖)、种族和族裔以及民族的新主题。由此产生的分析将评估遗传医学如何与非临床环境相结合。这项研究的结果将为有关遗传医学的伦理、法律和社会影响(ELSI)的文献提供重要贡献。这项研究的发现将有助于社会科学理论和改善有关遗传医学基础设施日益普及的政策。这一奖项反映了NSF的法定使命，并通过使用基金会的智力优势和更广泛的影响审查标准进行评估，被认为值得支持。

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.