Rare As One Request for Information: Patient Registry Data Interoperability

Patient groups often start a registry with a narrow scope, which varies depending on the group’s priorities, capacity, or funding. As patient groups seek to build, sustain, and expand their registries, interoperability is key to realizing a range of immediate and long-term goals. We’ve outlined a few of these goals below:

Integrating different data types

Patient groups that initially designed their registries to collect a specific type of data, such as patient-reported data, are exploring ways to collect other data types, where such integration can promise additional insights for diagnosis, clinical care, research, and therapeutic development. For example, integrating data from EHRs and genomic data has become a top priority, encouraging patient groups to experiment with new tools and machine learning technologies.

Improving compatibility between data platforms

Patient groups are seeking approaches to improving compatibility among data platforms to enable use, analysis, and portability across data collection efforts. For some patient groups, the goal is to link different data platforms run by the group—for example, linking a patient group’s clinical registry with its patient-reported database. For others, better interoperability allows flexibility to link legacy systems with new systems or to port data to another platform when platforms are discontinued or no longer meet the group’s needs.

Expanding registry purpose with evolving or additional research questions

When starting the registry journey, many patient groups make difficult decisions about how to focus their limited resources. As patient groups look to expand or evolve their registries with new clinical or research questions, interoperability is critical for reducing patient burden and maintaining consistency across patient participants and disease sub-classes.

Collaborating with other actors and data collection and analysis efforts

Collaborating with other actors—including clinicians, researchers, hospitals, regulators, and the biotech or pharmaceutical industry—is critical for patient groups to maximize the relevance and value of their registry data and to co-design studies for therapeutic development. Interoperability not only allows patient groups to reach out to and diversify “end data users” but also ensures that patient interests and voices are captured in what data are collected and how the data are interpreted and analyzed by different stakeholders.

While the specific need for interoperability might vary from patient group to patient group and their respective registry goals, there are common, cross-cutting challenges. Many of these challenges are interlinked and require coordinated solutions, illuminating key opportunities to explore scalable solutions.

We’ve provided six RFI questions below, each illustrating a different type of challenge or barrier that can impede registry data interoperability or hinder better usability and analyses across data sources. Please note, you are welcome to respond to any number of these questions that you wish to answer. You are also welcome to provide more than one response to a given question or to come up with your own prompt and describe a challenge or barrier that’s not reflected in any of the RFI questions.

We use the term “challenge” broadly—you can describe, for example, technological barriers, functional limitations, administrative burdens, ethical concerns, cultural or societal concerns, legal or policy issues, lack of capacity or resources, among others.

Each response can be up to 200 words, but we highly encourage concise responses.

1. Data capture and collection: What are the challenges for patients or clinicians in accessing data from electronic health records (EHRs) to share with a registry or research study, such as inconsistencies in EHR formats?

2. Data standardization: What are the challenges for collaborators in agreeing on critical data elements, clinical nomenclature, biomarkers, or key outcome measures to improve clinical care and accelerate therapeutic development?

3. Data application: What are the challenges for academic and industry researchers in accessing, querying, and analyzing data from registries, such as a lack of transparency on what data is available or restrictions on data use?

4. Data reliability: What are the challenges for patient groups in ensuring that their registries meet the data requirements of regulators (e.g., FDA or EMA) and their therapeutic approval processes, such as “clinically validated” or “regulatory grade” data?

5. Data centralization and federation: What are the challenges in integrating or aggregating data, including different data types, or querying across multiple data sources, whether that involves data related to the same disease, disease family, or data across multiple diseases?

6. Data privacy and security: What are the challenges in sharing data more broadly while protecting privacy, security, and individual consent, such as limitations in current data sharing platforms or different interpretations of HIPAA and GDPR obligations?

7. Create your own prompt, or describe a challenge or barrier that’s not reflected in any of the above RFI questions. We want to hear your thoughts!

In addition to describing challenges, there will be an option in the RFI submission to propose any ideas for potential solutions or to suggest organizations, projects, or actors that might be uniquely suited to address the challenge or barrier you describe. You can name ideas, people, or institutions across diverse fields or expertise, and you’re welcome to name yourself or your affiliates.

Is this a request for proposals or applications?

• This is not a request for either proposals or applications for funding. This is a request for information that will help CZI understand how to best develop program strategies, including future funding priorities.

Who can submit? Is this RFI specific to rare diseases?

• While we are aware of many of the registry data interoperability 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. We welcome 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 interoperability challenges from different perspectives.

We are a for-profit company. Should we submit?

• Yes. We welcome submissions from for-profit, nonprofit, or government entities as well as individual actors across any field.

Are submissions welcome from outside the United States?

• Yes. While each country or region might have specific factors or infrastructure that drive decisions impacting interoperability, we believe that solutions to promote interoperability, particularly across patient registry data, should be international in scope. We are committed to making this RFI as accessible as possible. If you have questions or would like assistance, please email rareasone@chanzuckerberg.com with the subject header “RAO RFI,” and we will do our best to support you.

When are submissions due?

• All responses to the RFI must be submitted by 5:00 p.m. PDT, Tuesday, November 30, 2021.

Can I start my RFI and come back to work on it?

• Yes. The RFI submission system will allow you to save your work as you progress and return to it. Simply submit it when you are ready.

Who will be reviewing the RFI responses?

• Staff from the Chan Zuckerberg Initiative’s (CZI)’s Rare As One Project will be reviewing, compiling, and mapping the responses. We are also planning to engage external experts and partners who can help us better understand the challenges and identify key opportunities.

What can I expect after submission? How will you use the information?

• After the close date on November 30, 2021, CZI staff will review the RFI submissions. There is no “review criteria” for submissions. Rather, we aim to learn from each submission and glean insights from aggregating all of the submitted responses. We expect to analyze, compile, and map the responses with respect to key pain points and challenges across the ecosystem. We will then use this map to help shape our programmatic priorities and investment strategies and to identify actors, organizations, and projects that are addressing similar challenges from different perspectives and expertise.
• In addition, knowing that RFIs often lead to many great ideas that we may or may not be able to support down the road, we may also share learnings from the RFI with other submitters, funders, partners, or actors in the field, in order to facilitate connections or support networking or potential collaborations.
• We also plan to share a report of our learnings from the RFI with the community and stakeholders in early 2022. By sharing our learnings, we hope to be transparent, accountable, and collaborative with the many actors working and building solutions in this space.

Will my submission be kept confidential?

• CZI will use the information submitted at its discretion. As described on the RFI webpage, aggregated learnings will be shared in a public report. In this report, submitted responses may be quoted but will not be attributed to individual submissions. More detailed information may be shared with internal teams at CZI and outside experts. Finally, we may share name and contact information where helpful to facilitate connections across the field, but will request prior consent before doing so.
• By submitting, you agree NOT to submit confidential, business sensitive, proprietary, or privileged information, or information that is protected under any data privacy laws.
• Submission materials will not be returned to submitters.

Do I need to respond to the RFI to qualify for any potential future funding related to these topics?

• No. Our goal is for the RFI submissions to deepen our understanding of patient registry data interoperability challenges. We hope that the RFI responses will inform and shape our program priorities, including potential funding opportunities, and we may reach out to RFI submitters for additional information. However, responding to this RFI will not be a prerequisite to be eligible for any potential funding opportunities that may arise from the RFI.

Diversity and Equity

• We believe the strongest teams—encompassing ourselves, our grantees, and our partners—incorporate a wide range of backgrounds, lived experiences, perspectives, and voices that guide them to the most important unsolved problems. To enable our work, we incorporate diverse perspectives into our strategy and processes, and we also seek to empower community partners to engage in science. We are committed to building grant programs that foster diversity and address systemic inequities. We are working to build tools and infrastructure and disseminate methods and skills, aiming for conditions in which a diverse range of prospective patient advocates can thrive and grow. Women and gender minorities, those with disabilities, underrepresented racial and ethnic groups, and organizations representing disease areas that disproportionately impact underrepresented or underserved communities are strongly encouraged to submit a response to the RFI.