NIH Director's Blog: a rare public health challenge

From the NIH Director's Blog by Joni Rutter, PhD, National Center for Advancing Translational Sciences

Most public health challenges may seem obvious. The COVID-19 pandemic, for example, swept the globe and in some way touched the lives of everyone. But not all public health challenges are as readily apparent.

Rare diseases are a case in point. While individually each disease is rare, collectively rare diseases are common: More than 10,000 rare diseases affect nearly 400 million people worldwide. In the United States, the prevalence of rare diseases (over 30 million people) rivals or exceeds that of common diseases such as diabetes (37.3 million people), Alzheimer's disease (6.5 million people), and heart failure (6.2 million people).

Shouldering the Burden of Rare Diseases

As with common diseases, the personal and economic burdens of rare diseases are immense. People who live with rare diseases often struggle for years before they receive an accurate diagnosis, with some remaining undiagnosed for a decade or longer. The diagnostic odyssey includes countless doctor visits, unnecessary tests and procedures, and wrong diagnoses. For people in rural and low-income communities, lack of access to care is an additional barrier to an accurate diagnosis. And a diagnosis often doesn't lead to better health—only about 5 percent of rare diseases have U.S. Food and Drug Administration–approved treatments.

Collectively, the personal burdens of those with rare diseases impose a significant economic cost on the nation. When quantifying the health care expenses for people with rare diseases, we found that they have three to five times greater costs than those without rare diseases [1]. In the United States, the total direct medical costs for those with rare diseases is approximately $400 billion annually, a figure validated independently by the EveryLife Foundation for Rare Diseases. The EveryLife study also included indirect and non-medical costs, resulting in a higher total economic burden of nearly $1 trillion annually [2].

What's even starker is that the true scope and impact of rare diseases actually may be greater because rare diseases aren't easily visible in our health care system. Many of the diseases are too rare to have a code that identifies them in the electronic health record (EHR).

Speeding Up the Search for Solutions

Each and every day, NIH's National Center for Advancing Translational Sciences (NCATS) works with patients, advocates, clinicians, and researchers to meet the public health challenge of rare diseases. Driving those conversations are three overarching goals to help people living with rare diseases get the high-quality care they need, faster:

1. Shorten the duration of the diagnostic odyssey by more than half...

2. Develop treatments for more than one rare disease at a time...

3. Make it easier and more efficient for scientists to discover and develop treatments for rare diseases...

Read more at directorsblog.nih.gov.