Abstract
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.
Highlights
Before about 1990, insofar as diagnostic and other medical tests were subject to statutory regulation, it was to ensure that they met appropriate standards of accuracy—of analytic and clinical validity, in present-day terminology
Informed by frame theory (Rein and Schön, 1996; Jones, 2001), the paper shows that medical geneticists' sensitivity to the informational dynamics of genetic testing dated back at least to the 1970s, when they sought to distance themselves from their earlier association with eugenics; that the way they framed the risks associated with genetic tests at that time continued to inform their responses to the development of new genetic diagnostics during the 1990s; and that the idea of “clinical utility” as a key regulatory requirement for genetic tests emerged as geneticists sought to maintain and adapt that problem frame to accommodate new developments both in diagnostic technology and in the regulatory environment
The ASHG repeated its warning that “Cystic fibrosis (CF) testing is not recommended, at this time, for individuals or couples who do not have a family history of CF”, and advised that population screening be further deferred until a series of pilot studies had been completed (American Society of Human Genetics, 1992)
Summary
Before about 1990, insofar as diagnostic and other medical tests were subject to statutory regulation, it was to ensure that they met appropriate standards of accuracy—of analytic and clinical validity, in present-day terminology. Informed by frame theory (Rein and Schön, 1996; Jones, 2001), the paper shows that medical geneticists' sensitivity to the informational dynamics of genetic testing dated back at least to the 1970s, when they sought to distance themselves from their earlier association with eugenics; that the way they framed the risks associated with genetic tests at that time continued to inform their responses to the development of new genetic diagnostics during the 1990s; and that the idea of “clinical utility” as a key regulatory requirement for genetic tests emerged as geneticists sought to maintain and adapt that problem frame to accommodate new developments both in diagnostic technology and in the regulatory environment It 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 in the regulation and governance of testing. The views expressed in these sources were analysed to identify, on the one hand, continuities in geneticists' overall framing of the problems associated with testing, and on the other hand, the adjustments made over time to accommodate new technical and regulatory developments within that overall framing
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