5 Slides We’re Discussing: Gene therapy and the promise for rare disease


Soraya Marashi


Gene therapies have yielded promising results for individuals experiencing rare diseases. However, these groundbreaking therapies come with their own unique set of challenges regarding who will be able to access them, how much they will cost, and how the policymaking and scientific processes will conflict as more and more therapies undergo clinical trials.


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Last week, we convened a panel of experts to address these questions and discuss potential solutions in our latest “5 Slides We’re Watching” conversation, led by State of Reform’s DJ Wilson. The panel featured Danny Seiden, president & CEO of the Arizona Chamber of Commerce and Industry, Dr. Jennifer Hodge, U.S. DMD Gene Therapy Lead at Pfizer, Dr. Rafael Fonseca, chief innovation officer at Mayo Clinic, and Dr. Sharon Hesterlee, chief research officer at the Muscular Dystrophy Association.

Hesterlee brought a slide showing the prevalence of rare diseases in Arizona, noting that 5,500 Arizonans were estimated to be living with rare genetic neuromuscular diseases that were potentially treatable with gene therapy. She highlighted that Charcot-Marie-Tooth disease and Myotonic dystrophy were the most prominent, and that both diseases currently have gene therapy treatments in preclinical development. 

She emphasized that ethics need to be an important part of the conversation, and that it will be critical to educate patients and families about the treatments’ irreversible implications as more and more therapies begin to launch. 

“It’s a permanent change to someone. What we see in particular with parents of a child who has a pediatric disease, they are put in a very difficult position because they have to make a decision without always understanding all of the science and all of the implications. 

So I think there is a huge requirement for the physician [who does the informed consent] to be very clear, and then the parents have to decide … if it doesn’t work, my child cannot be redosed, my child may not be eligible for another trial … I think that’s been a big challenge and something that we’ve tried to help our community in the neuro-muscular disease space navigate.”

Seiden brought a slide displaying the economic benefits that would come with the increased prevalence of gene therapies. He noted that outdated systems of payment would not be applicable to this kind of treatment, and that these therapies would allow for one-time costs as opposed to a lifetime of treatment for patients with rare diseases.

“When you deal with rare diseases, you need to look at it on an annualized basis over the cost of a lifetime, because gene therapy has the potential to save money and a lot of heartache for the patients and the families involved with it … Arizona is one of a handful of states that allows for value-based purchasing when it comes to Medicaid contracts … With the [Arizona Health Care Cost Containment System (AHCCCS)], which is by far the largest provider, they’ve recognized that you have to look at patient outcomes. It’s not just about that initial upfront cost.”

Hodge presented a slide illustrating the unmet needs of individuals with rare diseases and the potential impacts that gene therapies can have on these individuals. She emphasized the urgent need for innovative treatments for these diseases, as 95% of rare diseases worldwide have limited or no approved treatment options, and 80% of those rare diseases have a genetic cause. She said this makes patients with rare disease collectively one of the most underserved communities in medicine today.

She said educating every organization involved in the process of developing these therapies on the stories of real patients affected by these diseases will be critical as gene therapies move through both scientific and legislative processes.

“It’s really to address the underlying cause of rare diseases at the root, meaning the genetics, not the symptoms … It can’t be a line item in a bill, it can’t be something on a piece of paper that you hear about, it has to be someone telling their story [and] … thinking about the patient and what they’re going through. 

You can learn so much by just sitting and talking and just hearing their story, and little things that you didn’t even know affected them … We need to bring that to more of the audience that’s involved in making some of these decisions so they can see it as more than just a line on a piece of paper when they’re deciding something.”

Fonseca showed a slide explaining some specific uses of gene therapy that could potentially provide individualized, life-saving treatment to people with red blood cell diseases, as well as preventive genetic interventions for diseases like cancer.

“When you think about this approach in looking at the rare disorders, it turns out that by extrapolation, a lot of the diseases that we consider common also become more and more individualized, and therefore, they’re more and more unique. More and more, we see approaches that have to be very, very much [a] tailored design for patients … 

To have someone who is born with [a red-blood cell disorder] return to normal red blood cell function is just enormous. This is a worldwide problem, it’s a problem that’s associated with pain, serious medical problems, a shorter lifespan, and great expenditures for the health system, and so [I’m very excited about where we’re at with this].”

Wilson highlighted that while few gene therapies have been officially launched in the market, many are currently in pre-clinical and clinical trials and are expected to provide promising health solutions for the future.