What’s in a name? Why metaphors matter for genetics research

By Mildred K. Cho, PhD

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. Continue reading

Sloppy Thinking about Genetic Therapy

By David Orentlicher
[Cross-posted at Health Law Profs blog]

As NPR reported this morning, researchers in England may soon use genetic therapy to treat diseases that result from defects in mitochondrial DNA.

Mitochondria create energy for cells, and they have their own genes, distinct from the genes that help determine our looks, behavior, and other traits. Because mitochondrial activity is critical to normal cell functioning, abnormalities in mitochondrial DNA can be devastating. Some babies die in a matter of hours.

But because the therapy involves genetic manipulation, it is controversial. While critics are right to insist that we proceed carefully with genetic therapy, many of their arguments are misguided.  Continue reading