全基因组测序问题的探索性民族志研究
An Exploratory Ethnographic Study of Issues and Concerns with Whole Genome Sequencing
摘要：
全基因组测序（WGS）的进展将很快使大量个体的基因组完全测序。这为改善现代医疗保健奠定了基础，开创了个性化医疗的新时代，在这个时代，诊断和治疗都是根据患者的基因组成量身定制的。它还允许出于个人好奇心的个人获得他们的遗传信息，并使用它，例如，追溯他们的祖先然而，同样的进展也放大了一些伦理和隐私问题，这些问题源于基因组信息前所未有的敏感性，而且没有得到很好的研究。本文提出了一个探索性的民族志研究，用户的隐私和道德问题的看法与WGS，以及他们对不同的WGS程序的态度。我们报告了一系列的半结构化访谈，涉及16名参与者，并分析了定量和定性的结果。我们的分析表明，用户表现出共同的信任问题和对歧视的恐惧，并要求严格控制他们的遗传信息。最后，我们强调需要在该领域进一步研究和后续研究，建立在我们的初步研究结果。
英文摘要：
Progress in Whole Genome Sequencing (WGS) will soon allow a large number of individuals to have their genome fully sequenced. This lays the foundations to improve modern healthcare, enabling a new era of personalized medicine where diagnosis and treatment is tailored to the patient's genetic makeup. It also allows individuals motivated by personal curiosity to have access to their genetic information, and use it, e.g., to trace their ancestry. However, the very same progress also amplifies a number of ethical and privacy concerns, that stem from the unprecedented sensitivity of genomic information and that are not well studied. This paper presents an exploratory ethnographic study of users' perception of privacy and ethical issues with WGS, as well as their attitude toward different WGS programs. We report on a series of semi-structured interviews, involving 16 participants, and analyze the results both quantitatively and qualitatively. Our analysis shows that users exhibit common trust concerns and fear of discrimination, and demand to retain strict control over their genetic information. Finally, we highlight the need for further research in the area and follow-up studies that build on our initial findings.
机构、总结、中文摘要均由AI分析而来，可能存在错误，请以论文正文为准。
