In 2017, the US FDA approved a gene therapy for the first time. However, it’s important to remember that the term “gene therapy” has been an optimistic misnomer for nearly 30 years, since the first clinical trial of a gene-based intervention was initiated in 1990. Although the FDA has now approved a handful of gene-based therapies, there are concerns about the viability of the approach in actual clinical practice.
Because of the decades-long struggles of the technology to live up to its hype, the term “gene therapy” has been heavily criticized for encouraging the “therapeutic misconception” and for conveying unwarranted “therapeutic optimism.” In addition, there is evidence of how clinical trial participants and investigators both overestimated benefits from research but also how research was framed as treatment. As a result, many recommended the alternative term “gene transfer” to more accurately represent the purpose and benefit of the intervention. We may never know exactly how much the use of the term “gene therapy” contributed to potential bias in perceptions of effectiveness and intent, but it does highlight the potential impact of language on the ethical conduct of research.
Similarly, the rhetoric surrounding the genetic “revolution” has been justly criticized. Our research published in Genetics in Medicine, the peer-reviewed journal of the American College of Medical Genetics and Genomics (ACMG), suggests that researchers and advocates should not only avoid hyperbole, but also be more cautious and reflective about the use of metaphors. We asked patients in a Northern California health system to tell us what the word biobank made them think of, and received a range of notable responses. Some people associated the term with financial banks or gold mines, and others expressed suspicion of commercial motives of pharmaceutical or insurance companies for collecting and using biosamples. Others associated the term with computers or databases, and some may have been misled by the association of biobank with the concept of electronically-accessible information, saying that a benefit of a health system’s research biobank-linked database was that patients could look up personally-relevant information in it directly and therefore not have to see a doctor.
This misconception is especially concerning, to the extent that it may reflect and be exacerbated by a misunderstanding of the increasingly-used metaphor of precision medicine. Indeed, the National Research Council promoted a shift to precision medicine from personalized medicine precisely to counteract the idea that the intent was to develop uniquely tailored treatments for specific individuals. Nevertheless, the term precision medicine may still encourage the misunderstanding that the intent of the activity is clinical care when, at this stage, it is still largely a research undertaking.
Our findings suggest that we should critically examine terms that are commonly used in descriptions of research, especially metaphors, whose effectiveness as a communication tool is a potential strength but also risky to the extent that they rely on shared cultural understandings and values, such as whether they elicit positive or negative associations. We found that metaphors do not have the same meanings for scientists and potential research participants, and that language choices may affect not only understanding of the research enterprise, but public trust and willingness to participate in research. Recent announcements describing precision medicine initiatives as startups and resources such as databases, samples and patients as assets might be trying to play up its innovation aspects by association with the high flying world of high tech. But such language could be offensive or unwittingly create negative associations with commercial ventures and discourage participation of the very people that will be critical to research success.