I am a biotech investor and entrepreneur. But more central to my worldview is that I am someone who lives with a rare genetic disease. This has sensitized me to the flippant ways that excited scientists and entrepreneurs toss around notions of “cures,” especially when genomic manipulation is involved.
No matter what work is in front of me, I see it through the lens of life with a disease-causing typo in the six billion DNA letters that make up the story of my genome. I have a C (for cytosine) where there should be G (for guanine), an error that sits within a gene that is essential for building the heart’s electrical current. Such a defect can lead to potentially lethal irregularities in my heart’s rhythm. The condition is called long QT syndrome.
A few months ago, I felt all sorts of emotions welling up when I came upon an article in a top journal announcing a new gene-editing method for correcting an erroneous G back to a proper C. I froze when I saw it. I could see flashes of countless CRISPR-related headlines from the past few years touting genomic engineering to make cures possible. Always that word — cure — reverberating through press releases, interviews, Wall Street analyst reports, and conference talks about genome editing.
As I snapped back into the moment, I realized this was early-stage work in cells in a dish, and even the most advanced gene-editing products have only a couple of years of clinical data, far from being considered a durable cure even for the more tractable conditions. But I still felt a tinge of frustration, even resentment, toward those “cures” that aren’t, and probably won’t be proven as such for a very long time.
A few weeks later, that frustration bubbled up again. I was reading an article by a science journalist I admire greatly about the high-profile financing of an impressive biotechnology company. One of the company’s senior leaders described its early clinical development plans in the context of “what’s best for the technology.”
What’s best for the technology? Since when do biotech companies design their strategies and clinical development plans based on what is best for their technology? Since when did companies deprioritize what is best for patients in favor of technology?
I have no reason to believe that the executive giving that interview has anything but good intentions for their work (and for this reason have not included a link to the article), but the language used reflects a cultural thread increasingly visible across the bio-innovation ecosystem, from academic medical centers and government agencies to well-funded biotech companies.
I believe that rot is threatening to eat away the patient-centricity of biomedical innovation culture. Cultural rot happens quietly, and so isn’t always immediately apparent. Language patterns can be reliable harbingers of such rot, allowing it to be addressed sooner rather than later. In this case, the language of genomic-manipulation-as-cure should sound an alarm for anyone who believes in the healing potential of biotechnology.
Deliberate changes to the language that innovators and clinicians use in describing cutting-edge drug development might help reinvigorate the primacy of patients at the center of this work. As a patient and an investor, I want to be sure that everyone involved in advancing new medicines recognizes that we do not exist to do what’s best for technology. Technology exists for our service, to aid in healing ourselves and others. This is the path toward a sustainable, life-changing ecosystem for bio-innovation.
For starters, an obsession with genetic cures, rather than with life-changing medicines, is fundamentally lacking in empathy. Emphasizing future curative potential over present impact can turn health and disease into binary ideas rather than the spectrum they truly are. No one is fully healthy or fully diseased, and the language of biomedicine should aim for a humanizing nuance, not polarization. What’s more, the implication that only “one-and-done” genetic modifications can offer cures casts a shadow of genetic determinism across drug discovery, to the detriment of appreciating what it means to be healthy or to thrive.
Presuming that interventions at the DNA level are likely to be curative, and then prioritizing a particular disease-causing gene because that’s what’s best for a technology, is fraught with problems: It overlooks the fact that a lifetime of monitoring for side effects and duration of efficacy is not a lifetime free from the anxiety and trauma of genetic disease, especially when unintended consequences of genomic manipulation are omnipresent. It ignores the impossibility of using gene editing to wash away the physical or emotional traumas that have already occurred for a patient. And it fails to recognize the importance of prevention with preconception screening as the surest way to erase a disease’s imprint on an individual or allow a family to sidestep it.
My hope is that more people pause in awe of a medicine that uses RNA inhibition to offer a small boy who might never have walked the opportunity to take his first steps, even if he isn’t “cured” of his spinal muscular atrophy. Or applaud the scientists who have built a gene therapy for the biblical deed of restoring vision, even if the recipients lack 20/20 vision. Or praise the persistence of advocates who support the hard work of expanding the breadth of life-extending therapies available to cystic fibrosis patients, even if those daily medicines do not act directly on their cystic fibrosis gene.
Biotechnological innovation today is happening at a staggering pace, and it is creating rich and inspiring stories about improving human health and wellness. I can respect the power of genes without worshiping them, and I can hope that well-being and health spans will be expanded even without cures. Stopping a genetic disease in its tracks — and maybe even reversing its progression — is an extraordinary achievement. But it is seldom a cure, and there is no need to say it is, pretend it is, or care that it isn’t.
Lee D. Cooper is a biotech investor and lecturer on bio-innovation at the Thayer School of Engineering at Dartmouth College.
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