Penn Live: Congress has the power to protect patients with rare diseases from price gouging

By Jennifer Riley, Patients Come First Pennsylvania’s Executive Director

I’ve experienced firsthand the uphill battle that parents of children with rare diseases endure. The search for knowledgeable, compassionate care can feel like an endless maze—isolating, exhausting, and filled with frustration. Too often, they are left navigating a complex healthcare system on their own, desperately seeking specialists who understand their child’s condition and can offer real solutions.

Thankfully, every year on the last day of February, the global community recognizes Rare Disease Day—a moment to shine a light on the 300 million people worldwide living with a rare disease. It is a day of awareness, advocacy, and action.

However, for too many Americans with rare diseases, awareness alone is not enough. They face a healthcare system where life-saving medications are often financially out of reach due in large part to an opaque and unregulated middleman: pharmacy benefit managers (PBMs).

PBMs were initially designed to negotiate drug prices and manage prescription benefits on behalf of insurers, employers, and government programs. However, over the years, they have morphed into powerful intermediaries that, rather than reducing costs, have driven up prices—particularly for high-cost specialty drugs, which are often essential for patients with rare diseases.

Recent reports indicate that PBMs have increased prices on certain specialty drugs by over 1,000%. This unchecked price inflation is not just a burden; it is a crisis.

For individuals with rare diseases, access to treatment is already fraught with obstacles. There are over 7,000 identified rare diseases, but only about 5% have an FDA-approved treatment. PBMs exploit the complexity of the drug pricing system, pocketing massive rebates and fees while patients struggle to afford essential medications.

Despite their claims of negotiating lower prices, their opaque tactics often result in higher costs. This is especially true for orphan drugs—medications developed specifically for rare diseases—where limited market competition gives PBMs even more leverage to inflate prices and maximize profits.

When a treatment does exist, PBM pricing practices often make it unattainable, forcing patients into impossible choices: rationing medication, going into debt, or forgoing treatment altogether.

Pennsylvania has been hit especially hard by PBM pricing practices. An estimated 1.2 million Pennsylvanians are affected by rare diseases, and about 690,000 Pennsylvanian adults, or 7% of the state’s population, report having medical debt. This leaves families forced to choose between affording life-saving treatments and other essential expenses.

This price gouging doesn’t just affect those with rare diseases. Reports show that many Pennsylvanians are paying inflated drug prices due to the lack of PBM transparency.

A recent report by the Pennsylvania Auditor General highlighted how PBMs engage in “spread pricing,” charging health plans more for medications than they reimburse pharmacies, pocketing the difference. This practice has driven up costs for both consumers and independent pharmacies across the state.

In rural areas of Pennsylvania, where specialty pharmacies are scarce, PBM reimbursement cuts have forced many independent pharmacies to close, further limiting access for those who need it most. In 2024 alone, more than 140 independent pharmacies have closed their doors, leaving 21 of our 67 counties with fewer than ten pharmacies. Statewide, approximately 540,000 rural Pennsylvanians—27% of the rural population—live in a “pharmacy desert,” which is at least five miles from the nearest pharmacy.

The Pennsylvania legislature has attempted to address these issues, aiming to curb anti-competitive practices, increase transparency, and prevent PBMs from steering patients toward their own affiliated pharmacies. However, it is widely accepted that federal law preempts state law in regulating pharmacy benefit managers. Therefore, more comprehensive federal reforms are necessary to prevent PBMs from continuing to exploit patients nationwide.

Read the full op-ed in Penn Live.