I am a biotechnology investor and entrepreneur. But what’s more central to my worldview is that I’m someone who lives with a rare genetic disease. It made me aware of the flippant ways in which enthusiastic scientists and entrepreneurs use notions of “cures,” especially when genomic manipulation is involved.
Whatever work awaits me, I see it through the prism of life with a typo that causes disease in the six billion letters of DNA that make up the history of my genome. I have a C (for cytosine) where there should be a G (for guanine), an error that is in a gene essential for building the electrical current of the heart. Such a defect can lead to life-threatening irregularities in the rhythm of my heart. The state is called long QT syndrome.
A few months ago I felt all kinds of emotions when I came across a article in a leading journal announcing a new gene-editing method to correct an erroneous G to a correct C. I froze when I saw it. I could see flashes of countless CRISPR-related headlines over the past few years touting genomic engineering to make treatments possible. Always this word – cure – which resounds in the press releases, the interviews, the reports of Wall Street analysts and the conferences on the editing of the genome.
Looking back at the moment, I realized that this was preliminary work on cells in a box, and even the most advanced gene-editing products only have a few years of clinical data, far from being considered a lasting cure for even the most treatable conditions. But I always felt a tinge of frustration, even resentment, towards those “cures” that aren’t and probably won’t be proven as such for a very long time.
A few weeks later, this frustration resurfaced. I was reading an article by a science journalist whom I greatly admire about the highly publicized financing of an impressive biotech company. One of the company’s top executives described its early clinical development plans in the context of “what’s best for the technology.”
What better for the Technology? Since when do biotech companies design their clinical development strategies and plans based on what is best for their technology? Since when have companies deprioritized what’s best for patients in favor of technology?
I have no reason to believe that the executive giving this interview has anything other than good intentions for his job (and for that reason I have not included a link to the article), but the language used reflects an increasingly visible cultural thread across the bio-innovation ecosystem, from academic medical centers and government agencies to well-funded biotech companies.
I believe the rot threatens to eat away at the patient orientation of the culture of biomedical innovation. Cultural rot happens quietly and therefore is not always immediately apparent. Language patterns can be reliable warning signs of such rot, making it possible to tackle it as soon as possible. In this case, the language of genomic manipulation as a cure should ring alarm bells for anyone who believes in the healing potential of biotechnology.
Deliberate changes in the language used by innovators and clinicians to describe breakthrough drug development could help reinvigorate the primacy of patients at the center of this work. As a patient and an investor, I want to make sure everyone involved in advancing new medicines recognizes that we don’t exist to do what’s best for technology. The technology exists for our service, to help heal ourselves and others. This is the path to a sustainable and life-changing ecosystem for bio-innovation.
For starters, an obsession with genetic cures, rather than life-changing drugs, is fundamentally lacking in empathy. Focusing on future healing potential rather than current impact can turn health and disease into binary ideas rather than the spectrum they really are. No one is perfectly healthy or completely sick, and the language of biomedicine should aim for a humanizing nuance, not a polarization. Moreover, the implication that only “one-and-done” genetic modifications can offer cures casts a shadow over genetic determinism in drug discovery, to the detriment of the appreciation of what it means to be healthy or prosper.
To assume that interventions at the DNA level are likely to be curative, and then to prioritize a particular pathogenic gene because it is best for a technology, poses many problems: it overlooks the fact that lifelong surveillance of side effects and duration of effectiveness is not a life free from the anxiety and trauma of genetic diseases, especially when unintended consequences of genomic manipulation are ubiquitous. He ignores the impossibility of using gene editing to erase physical or emotional trauma that has already occurred to a patient. And it fails to recognize the importance of prevention with preconception screening as the surest way to erase the imprint of a disease on an individual or enable a family to avoid it.
I hope more people will stop in awe of a drug that uses RNA inhibition to offer a little boy who might never have walked the possibility of taking his first steps, even if he is not “cured” of his spinal muscular atrophy. Or applaud the scientists who have build gene therapy for the biblical act of restoring vision, even if recipients lack 20/20 vision. Or praise the perseverance of advocates who support the hard work of expanding the reach of life-extending therapies available to patients with cystic fibrosis, even if these daily medications do not act directly on their cystic fibrosis gene.
Biotechnology innovation is happening at a breakneck pace today and creating rich and inspiring stories about improving human health and well-being. I can respect the power of genes without worshiping them, and I can hope that wellness and health will be extended even without cures. Stopping a genetic disease in its tracks – and maybe even reverse its progress — is an extraordinary achievement. But it’s rarely a cure, and there’s no need to say it does, pretend it does, or worry that it doesn’t.
Lee D. Cooper is a biotech investor and lecturer in bio-innovation at Dartmouth College’s Thayer School of Engineering.