Cardiff University, UK.
University of Southampton, UK.
Soc Sci Med. 2022 Apr;298:114857. doi: 10.1016/j.socscimed.2022.114857. Epub 2022 Feb 24.
The development of the 'new genetics' in the early 1990's opened up a new space which required some patients and families to understand and navigate genetic testing. The social science literature that has grown alongside the 'new genetics', now spanning more than thirty years, has continued to explore and question assumptions about attitudes and responses towards genetic technologies. In this article we highlight how individual experience of genetic disease and personal responses towards genetic technologies can only be understood by considering their context. We focus on the rich literature on family within sociology, science and technology studies, anthropology, and family studies, to explore the myriad ways in which family is implicated in the patient experience of genetic testing. We explore these connections by drawing on a set of interviews held with individuals who have undergone a predictive test for a genetic condition, including Huntington's Disease and breast cancer. Five themes were developed: family disclosure, family gatekeeping, going for testing, individual and collective communication practices, and receiving a negative test result. To conclude, we highlight how these connections might be considered through the lens of entanglement, explaining the complex mechanisms through which family and genetics are intimately entwined.
20 世纪 90 年代初“新遗传学”的发展开辟了一个新的领域，这要求一些患者及其家庭理解并能够进行基因检测。伴随“新遗传学”发展起来的社会科学文献已有三十多年的历史，它不断探索和质疑人们对遗传技术的态度和反应的假设。在本文中，我们强调了只有考虑到具体情境，才能理解个体对遗传疾病的体验和对遗传技术的个人反应。我们主要关注社会学、科学技术研究、人类学和家庭研究领域中有关家庭的丰富文献，以探讨家庭在遗传检测患者体验中所涉及的诸多方式。我们通过对一组接受过基因疾病预测性检测（包括亨廷顿病和乳腺癌）的个体进行的访谈，来探讨这些联系。总结出五个主题：家庭透露、家庭把关、进行检测、个体和集体的交流实践以及得到阴性检测结果。最后，我们通过纠缠的视角强调了如何考虑这些联系，解释了家庭和遗传学紧密交织的复杂机制。
