Rare As One Request for Information: Patient Registry Data Interoperability

Funding Agency:
Chan Zuckerberg Initiative

With this Request for Information (RFI), we aim to learn more about a particularly vast and complex challenge that many patient communities experience when leading or co-designing efforts to collect and share data: the lack of interoperability.

Rare disease patients often find their health data scattered across clinics, hospitals, and research institutions—where a single data source alone cannot generate sufficient knowledge to accelerate discovery. In response, patient groups have spearheaded registry efforts in hopes of aggregating and sharing with clinicians, researchers, and regulators the data and information most meaningful to patients.

Interoperability is the ability of different data products or systems to readily connect and exchange information with each other and to use the exchanged information. Despite progress, a lack of interoperability has made it difficult for patient groups to optimize the value and usability of their registry data or to even build a registry in the first place. Without a framework for standardization or an infrastructure that facilitates integration, each point of the registry ‘pipeline’ becomes burdensome for patient communities, and even existing efforts to improve interoperability are themselves siloed due to competing models or a lack of sustainable funding.

In choosing to focus on interoperability, this RFI aims to identify scalable solutions that enable analyses across rare disease data sources and systems, making it easier for patients to share data with researchers, and for researchers to fully leverage patient voices in rare disease research.

We see this RFI as a community-driven approach to learn about and map specific data interoperability challenges for registries that are led or co-designed by patient groups. While we are aware of many of these challenges through rare disease communities, we are interested in learning from all patient and research communities, and we anticipate that our learnings will support both rare disease communities as well as patient communities more generally. This RFI welcomes patient groups, researchers, clinicians, health technology developers, standards developers, and a diverse range of experts across all diseases and the broader health data ecosystem to share domain knowledge and submit information that can help illuminate opportunities to address similar challenges from different perspectives.

We seek to elevate ideas that will break down silos between and among efforts to collect data, standardize data, aggregate data, and link data systems. We anticipate this RFI will help to shape our program priorities, and we also plan to share our learnings from the RFI submissions with the community and stakeholders.

Please note that this RFI is not tied to a CZI funding program. 

Response Date: Nov. 30, 2021




Engineering and Physical Sciences
Medical - Clinical Science

External Deadline

November 30, 2021