Science, Technology and Innovation Studies, University of Edinburgh, Old Surgeons' Hall, High School Yards, Edinburgh EH1 1LZ, UK.
Soc Sci Med. 2022 Jul;304:112924. doi: 10.1016/j.socscimed.2020.112924. Epub 2020 Mar 19.
Before about 1990, insofar as diagnostic and other medical tests were subject to regulatory oversight, it was chiefly to ensure that they met appropriate standards of analytic and clinical validity. Over the course of the 1990s, however, regulatory reformers in the United States began to argue that genetic tests, specifically, should also be assessed to determine whether or not they actually benefit those undergoing testing-whether they possess "clinical utility", as they put it. The present paper asks why this shift in regulatory focus occurred specifically in relation to genetic tests, and why clinical utility became a key object of assessment. It answers these questions by situating concerns about genetic tests in the longer history of medical genetics. Looking back to the 1970s and medical geneticists' efforts to distance themselves from their earlier association with eugenics, it shows that they adopted a particular framing of the dangers of genetic testing which would inform their response to the proliferation of new genetic tests and the growth of commercial testing in the 1990s. In a series of policy committees convened over the course of that decade, medical geneticists called for regulatory measures to be implemented to ensure that genetic tests were only introduced into medical practice if they had been shown to be beneficial to those tested. The paper follows the deliberations of those committees to show in detail how geneticists worked within this framing to accommodate new technical capacities and regulatory opportunities. In the course of these deliberations, they adopted the idea of clinical utility to signify the need for evidence of benefit specifically to those tested. The paper concludes with some observations regarding how this framing of genetic tests relates to current understandings of "genetic exceptionalism" and to more recent articulations of clinical utility.
在 1990 年之前，诊断和其他医学测试主要受到监管监督，以确保它们符合适当的分析和临床有效性标准。然而，在 20 世纪 90 年代，美国的监管改革者开始认为，特别是遗传测试也应该进行评估，以确定它们是否实际上使接受测试的人受益——它们是否具有“临床实用性”，正如他们所说。本文探讨了为什么监管重点会特别针对遗传测试发生转变，以及为什么临床实用性成为评估的关键对象。通过将遗传测试的问题置于医学遗传学的更长历史中，回答了这些问题。回顾 20 世纪 70 年代，医学遗传学家努力摆脱早期与优生学的联系，本文表明，他们采用了一种特定的遗传测试危险框架，这将影响他们对新的遗传测试的扩散和 20 世纪 90 年代商业测试的增长的反应。在这十年的一系列政策委员会中，医学遗传学家呼吁实施监管措施，以确保只有在证明对受测者有益的情况下，才将遗传测试引入医疗实践。本文跟踪了这些委员会的审议过程，详细展示了遗传学家如何在这种框架内工作，以适应新的技术能力和监管机会。在这些审议过程中，他们采用了临床实用性的概念来表示需要证明对受测者有益的证据。本文最后对这种遗传测试框架与当前对“遗传特殊性”的理解以及最近对临床实用性的阐述之间的关系进行了一些观察。
