Seeking Clarity with Data

Four recent studies, each using their own methodologies, came to similar conclusions about the disproportionate economic burdens of rare diseases. Now, the authors of those different studies have worked together on a piece published in the journal Health Affairs to offer recommendations on how we can better understand the challenges.

The four studies include National Economic Burden of Rare Diseases Study (February 2021) prepared for the EveryLife Foundation by the Lewin Group; The IDeaS Initiative: pilot study to assess the impact of rare diseases on patient and healthcare systems (October 2021) in Orphanet Journal of Rare Diseases; Can you hear us now? The impact of health-care utilization by rare disease patients in the United States (June 2021) in Genetics in Medicine; and Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial (October 2021) by the GAO upon the direction of Congress.

“This reality and the limited-to-nonexistent databases that capture the indirect and non-medical costs of rare conditions speak to the need to both more fully address these indirect burdens and support developing systems and tools to capture more completely this significant burden, topics we will return to in our recommendations section,” the authors write. “This would include approaches to account for and support the unpaid/family caregiver, particularly given the burden of rare diseases and conditions on the pediatric population.

Given the difficult in getting a clear picture, it is not surprising to see the recommendations from these researchers focus on data-related issues. The recommendations are intended to improve the ability for researchers to capture and analyze rare disease data so that insight into the true costs of these conditions can be better understood with the ultimate goal of improving the lives of people with rare conditions and their families.

The recommendations include establishment of additional International Classification of Diseases (ICD) codes for rare diseases by taking steps to facilitate evidence-based applications for the codes through building on existing resources, enhancing the collection of rare disease data by including questions about rare diseases in public health survey instruments, expanding access to genetic testing for patients suspected of having a rare disease, supporting registries and natural history studies, and enhancing electronic health records structures to facilitate research.

The recommendations share a common reality that before you can address a problem, you need to understand it. To do this, data is essential. Though the recommendations may seem modest, they may represent a significant undertaking in changing the thinking of people who stand as gatekeepers to these various data collection and classification efforts. There is an an opportunity to capture data that is within our grasp that can help bring clarity to murky areas. It’s not a matter of technology, only will.