Crain’s New York Business Op-ed: New York needs to prioritize rare disease

We live in an age of scientific miracles. We have an unprecedented ability to identify the causes of disease, and we have access to treatments, and even cures, we could not imagine only a few decades ago. Through exome or whole genome testing, we have the ability to personalize treatments for patients to deliver more effective care to people suffering from a wide range of diseases. Nowhere is this progress more critical than in the case of those battling rare or ultra-rare genetic diseases, defined by federal law as diseases that affect less than 200,000 people in the United States.

But herein lies the problem: The research and development of medications to treat these rare conditions come with a significant price tag. This poses a unique challenge for both commercial insurance companies and public healthcare systems like Medicare and Medicaid, as it’s harder to make the case for cost-effectiveness when you’re dealing with a smaller patient population. However, one thing is undeniably clear: These life-saving medications should be accessible to patients, especially when access to them can be the difference between life and death.

Consider Bardet-Biedl Syndrome, a harrowing condition that leaves patients perpetually hungry, leading to morbid obesity and a host of other health issues. I recently spoke to a parent whose child battles BBS, who recounted the long-term physical and psychological impact the condition has had on her child. Imagine being repeatedly told by doctors that your child’s weight issues stem from poor choices, when in fact this relentless hunger is beyond your control. This mother recounted her family’s arduous journey to find an endocrinologist who ordered genetic testing revealing the presence of BBS and identified a drug to treat it. Yet Medicaid does not cover the medication, equating it to any other obesity drug. Thankfully, the child is now in treatment, but only because of the manufacturer’s commitment to patients.

Policymakers across the country are becoming increasingly aware of the unique challenges of rare diseases and the treatments they demand. Many states have set up rare disease advisory councils composed of experts who advise policymakers on rare disease-related matters. On the federal level, there’s a Rare Disease Caucus in Congress. Similar efforts are sprouting at the state level, where lawmakers with a deep passion for life sciences and rare diseases space are forming similar Rare Disease Caucuses.

The state Legislature has declared Feb. 29, 2024, as Rare Disease Day in New York, making this a perfect time to take the steps necessary to realize these goals.

Unfortunately, the effort in New York has been more muted. Currently, there is a Rare Disease Workgroup in New York, but it was established only after significant compromise that watered down the legislation originally passed by the Legislature. That workgroup is charged with producing a single report, originally due in December 2021 but still pending as of this writing. Fortunately, Gov. Kathy Hochul announced a renewed focus on rare disease in her 2024 State of the State address, including a desire to make the Rare Disease Advisory Council permanent.

Make no mistake, it is commendable that the state is taking steps to better understand how it can help those suffering from rare diseases. New York contains a plethora of world-class research institutions and has the capacity to be a world leader in life science technology on par with California and Massachusetts. New York also has a well-deserved reputation as a state that cares about the health and well-being of its residents, with generous public programs like Medicaid focused on ensuring that all New Yorkers get the care they need. We also have some passionate legislators and administrators who work hard to make sure those programs continue to work the way they should. However, we frequently fall short when it comes to rare diseases.

The state Legislature has declared Feb. 29, 2024, as Rare Disease Day in New York, making this a perfect time to take the steps necessary to realize these goals. The governor is right to seek the establishment of a permanent Rare Disease Advisory Council. The Legislature can also establish a Rare Disease Caucus to leverage the interest and experience of knowledgeable legislators, many of whom are already fervent advocates for rare disease sufferers. More broadly, the state can invest more in life science research, and provide coverage for genetic testing and rare disease treatments that can vastly improve the lives of countless New Yorkers. Researchers, clinicians, and, most crucially, patients and their families deserve nothing less.

Mark R. Ustin is a health care lawyer and lobbyist in the Albany office of Farrell Fritz.

As published in Crain’s New York Business, March 15, 2024:

Op-ed: New York needs to prioritize rare disease | Crain’s New York Business (crainsnewyork.com)