PATIENTS' DATA POWERING PROGRESS

Ensuring Data Silos Don’t Undermine Research

While research and development activities are rapidly advancing within the realm of rare diseases, in large part because of progress in understanding the genetics underlying these conditions, there is growing concern that data silos are undermining drug development at the expense of rare disease patients. 

In a position statement published in the Orphanet Journal of Rare Diseases, Nathan Denton, scientific communications manager for the Gene Therapy Program at the University of Pennsylvania, and his co-authors warn that balkanization of data through the use of proprietary forms for databases, and economic and academic incentives, undermine the effort to develop new therapies by fragmenting knowledge. 

The authors say that the current system also encourages wasted time, energy, and resources. The lack of coordination leads to redundant data collection and duplicative studies that ultimately delay the development of needed therapies. 

“Ironically, the lack of generalizable knowledge makes it more likely that individual data holders overestimate the value of the data they have because they do not know what data they are missing. Its siloed nature often means that data collected at great difficulty and expense by many well-meaning actors proves inadequate for building successful drug development efforts and guiding regulatory decision-making,” they write. “Until we create better regulatory and business incentives for both top-down data coordination and bottom-up data generation, we will wander in a sea of data, but find that very little of it satisfies our thirst for innovation—in both the rare and common disease spaces.”

Though the situation is by no means limited to rare disease research, its consequences are worsened by the challenges inherent in developing drugs for small populations, geographically dispersed, and suffering from conditions that are heterogeneous in nature. The lack of good quality data and natural histories make it difficult to develop meaningful outcome measures.

The authors argue that the combination of advances in genomic technologies and information technology makes it critical to bring stakeholders together to reach agreement on key issues relating to registry design, data sharing, and data governance. They say while groups at the National Institutes of Health and the U.S. Food and Drug Administration have started programs to address these issues, they believe significantly more discussion of how to coordinate and scale registry efforts is needed. 

RARE-X agrees with the authors that there is an unprecedented opportunity before us today given the advances in information technology, genomics, and the ability to develop potentially curative therapies. We do need to engage in a broad discussion with stakeholders to address the fragmentation of data. 

But we believe the authors err on one point in lumping RARE-X with other initiatives and suggesting that the rapid expansion of registries will “exacerbate data loss, replication, and/or data gaps without standard practices changing among stakeholders.” 

Four years ago, the founders of RARE-X recognized the problem of data silos and the challenges surrounding the collection and sharing of rare disease patient data.  RARE-X was built to address the very problem with which the authors are concerned.

RARE-X has created a platform that is inclusive, removes barriers, and allows participants to become part of the solution. We know not everyone will use the RARE-X platform to collect and share data. That’s why we are focused on enabling our system to interconnect with existing data not collected by us, including electronic health records, natural history data, comparator data, and more. That’s why we are leveraging federated data sharing technology to do this. We believe that is the future. That’s why we have spent the last few years putting together the puzzle pieces necessary to allow this to happen.

 We have been actively working with standards organizations and data scientists on a process that ensures that data collected within the RARE-X platform is robust, standardized, and shared, with patients’ consent, as broadly as possible with researchers and industry seeking to develop new treatments and cures.  We’ll be able to support patients more quickly, extensively, and cost-effectively than any other platform. 

What we’re doing is game-changing. And because we don’t expect everyone will use RARE-X for their data collection needs, we realize it is essential to construct a system designed to interconnect with others. That’s why our emphasis is on creating a federated data platform and environment for rare disease data sharing and analysis.

RARE-X is not part of the problem but rather part of the solution.

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