At the bustling Chicago O’Hare airport, my luggage and I collided with an elderly couple. My heart sank when I realized my vision had failed me again. Because of a connective tissue disorder, my peripheral vision and balance were impaired, making such unintentional mishaps part of my journey.
Moments like these are stark reminders of the day-to-day issues that patients with rare diseases often face. I know this not only from my own experience living with a genetic disorder, but also from treating many patients and researching gene therapies for more than two decades.
Fortunately, my symptoms were largely alleviated when geneticists and doctors at the National Institutes of Health and the Baylor College of Medicine found a treatment that compensates for the mutated protein behind the disorder.
The miraculous treatment has greatly improved my life. But it’s frustrating to know that treatments for many other diseases are out of reach simply because of costs.
Recent breakthroughs in RNA therapeutics from CRISPR-based RNA editing to antisense oligonucleotides hold promise for patients. These technologies allow researchers to mute RNA transcripts with gene mutations or correct mutations directly.
These discoveries could hold the key to treating — or even curing — a vast array of conditions, from rare genetic disorders like childhood-onset ALS type 4 to common killers like Alzheimer’s disease and cancer.
Simply developing cutting-edge therapies is only half the battle, though. Ensuring ordinary patients can access them is the other half — because these drugs often cost millions of dollars.
Successful gene therapies are enormously expensive for structural reasons. Synthesizing their components, including the medical-grade nucleic acids and the nanoparticles that deliver the drugs, is an immensely complicated process.
Until these substances can be manufactured at scale — an achievement that will require significant federal, rather than just private investments — they will remain prohibitively expensive.
Gene therapies are among the most expensive drugs ever created. A gene therapy for a rare blood disorder, beta-thalassemia, hit the market last year for $2.8 million per patient. Zolgensma, a gene therapy for spinal muscular atrophy approved in 2019, costs $2.1 million per patient.
The high cost of gene therapies doesn’t just limit access to these medicines — it also stunts work toward future cures and treatments. Right now, many investors are hesitant to fund experimental gene therapies, especially for rare diseases with small patient populations, since even if these medicines earn FDA approval, many insurers will balk at covering their high costs.
To date, federal policies aimed at tackling the economic challenges surrounding gene therapies have focused on helping patients pay for these breakthroughs. Such programs are helpful, but they ultimately address the symptom, rather than the cause, of the problem.
Instead, what’s needed is an aggressive federal effort to build a kind of shared medical infrastructure that can make these medicines more affordable to produce.
Engineers may have invented the internal combustion engine, and Henry Ford may have debuted the production line. But cars would have never become so commonplace had private auto companies been expected to build the national highway system.
By the same token, the federal government could foot the bill for shared infrastructure — and let biotech companies focus on the actual science of developing these novel treatments, rather than wrestling with how to manufacture them at scale.
Many medicines such as RNA therapeutics for cancer and genetic diseases rely on common components such as chemically modified nucleic acids and lipid nanoparticles. These elements ensure stability, bioavailability, and tissue targeting, ultimately determining the effectiveness of the therapy.
Other countries have tried to alleviate this problem. The U.K. government, for example, built an $85 million cell manufacturing facility in 2015 and just opened a new biotech center to aid “the UK’s ability to develop and manufacture new gene and cell therapies.”
Yet today, there’s still little shared infrastructure between U.S. firms developing gene therapies, meaning pharmaceutical companies are each forced to build their own isolated supply chains. The result is higher costs for patients.
The federal government could reduce some of this redundancy and cut costs by investing in a series of state-of-the-art manufacturing facilities capable of producing the complex materials most commonly used in gene therapies, nucleic acids chief among them. These facilities could be strategically located in different parts of the country, ensuring an efficient and resilient domestic supply chain.
Once these components can be synthesized at scale, the cost of creating and manufacturing new gene therapies will inevitably decrease — making these medicines far more affordable for patients as a result. A more robust supply chain would also reduce some of the investment risks for such treatments. This, in turn, would unlock a wave of new funding for companies and research groups, and accelerate progress toward better, more sophisticated gene therapies.
The culmination of decades of research now promises revolutionary treatments. However, without targeted investment in medical infrastructure, these innovations will remain inaccessible to many. It is imperative that we bridge this divide by ensuring that gene therapies become tangible treatment for all patients.
Vivian G. Cheung, M.D., is a physician-scientist, member of the National Academy of Medicine, and Frederick G. L. Huetwell professor of pediatrics at the Life Sciences Institutes, University of Michigan. She is also a patient with a rare disease.