Families Are Waiting

A recent 60 Minutes segment examining the cost of gene therapy put a national spotlight on a question families living with rare disease confront every day: how can lifesaving medical breakthroughs exist if they remain out of reach for the people who need them?

The public reaction to the multimillion-dollar price tags for gene therapies was swift and emotional. After decades of effort, investment, and ingenuity, we crossed the scientific finish line only to discover that society does not yet know how to pay for what it asked science to deliver.

There has long been an implied social pact at the heart of medical research. If we could solve the technical challenges, take the risks, and develop safe and effective treatments, those treatments would be available to patients. That understanding has driven generations of donors, taxpayers, scientists, clinicians, and companies to share the hard work of medical discovery. In rare disease especially, the progress we made has been built on trust: trust that innovation would lead to access and that success would be met with readiness. That pact is now being tested.

Over the past several decades, rare disease organizations, donors, scientists, clinicians, and biopharmaceutical companies have made extraordinary progress. Diseases once considered untreatable – Duchenne muscular dystrophy, spinal muscular atrophy, and even ALS – now have therapies that slow progression, preserve function, and extend life. At the Muscular Dystrophy Association alone, more than $125 million has been invested directly into gene therapy research and development, helping advance the science that made today’s breakthroughs possible.

The science worked but what has not kept pace is our ability to pay for and deliver these therapies once they reach the market. Families are encountering delayed authorizations, prolonged coverage reviews, and inconsistent payer decisions even after treatments receive regulatory approval. For progressive neuromuscular diseases such as Duchenne muscular dystrophy and spinal muscular atrophy, delay is not benign. Even when immediate treatment is not clinically indicated, uncertainty weighs heavily on families. When disease progression can be slowed, time matters greatly: time for children to build and preserve function, and time for science to deliver the next breakthrough.

The recent decision to add Duchenne muscular dystrophy to the Recommended Uniform Screening Panel (RUSP) for newborns brings this challenge into sharper focus. Newborn screening will identify children earlier, often before symptoms are apparent. This is a critical advance for families and clinicians alike. But early identification does not automatically mean immediate intervention, particularly when evidence is still evolving. What it does mean is that more families will enter the system earlier, seeking guidance, evaluation, and coverage at the very start of life. That increased demand will further strain insurance systems that are already struggling to respond equitably and
transparently.

This moment reveals a failure of alignment.

Insurance decision-making frameworks were largely designed around diseases diagnosed after symptoms emerge, with treatments introduced gradually and costs spread over time. Gene and genetic therapies operate differently, with earlier intervention and more concentrated upfront costs. This is not a failure of science or commitment. It is a failure of structure.

The challenge extends well beyond rare disease. Cutting-edge technologies developed for rare conditions are already being applied to more common diseases across neurology and beyond. How we address affordability and access now will shape the future of medicine.

There is reason for optimism. As technologies mature, manufacturing becomes more efficient, and competition grows, prices are likely to come down. But families living with progressive disease cannot wait for market forces alone to catch up. What is needed now are new, evidence-based approaches to paying for these therapies. Creative and responsible models deserve serious consideration, including reinsurance models, outcomes-based payment arrangements, nonprofit drug development at cost, and other mechanisms that reflect the realities of modern medicine.

Healthcare has faced moments like this before. Organ transplantation, oncology, and neonatal intensive care all required new frameworks when science outpaced existing systems. Rare disease therapies now demand the same level of intentional design.

We asked science to solve the hardest problems and it did just that. Now society must decide whether it will build the systems needed to honor that success and make good on the promise that innovation would reach the people it was meant to help.

Science is advancing. Families are waiting. The question is whether our insurance and payment systems will evolve quickly enough to keep the social pact intact.

Sharon Hesterlee, PhD
President & CEO