Rare As One Request for Information: Patient Registry Data Interoperability

This is a Request for Information (RFI), not a Request for Proposals or Applications. It is not tied to a grants program.

Registry Data Interoperability

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. See below under “Submitting a response” and “Frequently Asked Questions” for more information about how we plan to use and learn from the information that we receive.

Rare As One Project

Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people globally. The vast majority are not well understood, and less than 5 percent have approved treatments. Yet worldwide, patients and patient groups are meeting these challenges head-on.

The Chan Zuckerberg Initiative Rare As One Project is committed to uniting patient communities in their quests for breakthroughs in research and therapeutics. We are partnering with rare disease patient groups to better understand the challenges they face and to provide resources and tools that can amplify their ability to be effective advocates for—and drivers of—research.

Learn about our Rare As One grantees.

RFI Contact

For administrative and programmatic inquiries, or other questions pertaining to this RFI, please contact rareasone@chanzuckerberg.com with the subject line: RAO RFI.

Key Dates
September 29, 2021
Submission portal opens
November 30, 2021
Responses due by 5 p.m. Pacific Time

Submission Instructions here.

How Interoperability Advances Patient Group-Led Registries

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.

RFI Questions & Prompts

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.

Submitting a Response

The Chan Zuckerberg Initiative uses SurveyMonkey Apply (SMApply), and all responses must be completed and submitted through this portal at https://apply.chanzuckerberg.com. SMApply is configured to work best using the Google Chrome browser. The portal will allow you to save your work, so you can familiarize yourself with the portal and the submission questions in advance and return to it as you progress.

The submission consists of the following three sections (called “tasks” in the portal):

1. Submitter Information: The information entered should be for the Submitter who will be the administrative point of contact for CZI.

  • Name and email (auto-filled): To edit your name or email, please do so in your account information by clicking your name in the upper right corner and clicking My Account in the dropdown menu.
  • Role and/or background
  • Affiliation

2. Equal Opportunity & Diversity (optional): CZI Science supports the science and technology that will make it possible to cure, prevent, or manage all diseases by the end of this century. Everyone is affected by disease, yet different communities are affected by or experience disease in different ways. Moreover, due to systemic barriers, the scientific enterprise itself is not a place where all voices and talents thrive. We believe the strongest scientific teams—encompassing ourselves, our grantees, and our partners—incorporate a wide range of backgrounds, lived experiences, and perspectives 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 track demographic information associated with submissions in response to CZI’s Requests for Information (RFI). This information helps us learn from the RFI process, as well as improve our strategies to help ensure people who identify as members of underrepresented or marginalized groups in science are aware of and able to submit information that can shape CZI’s strategies. Please note that answering the questions below is voluntary, and demographic information will not be used to evaluate the submitted responses or to make any future funding decisions. Responses will be shared only with limited personnel, who will use that information only for the purposes described in this paragraph.

The information below may be entered for the Submitter.

  • What is your race/ethnicity? (optional)
  • What is your gender? (optional)
  • Are you transgender? (optional)
  • Are you a member of the LGBTQ community? (optional)
  • Do you have one or more disabilities? Please specify (optional)

If you have any additional questions about why we ask this, what we do with the data, or to share suggestions for improvement, please reach out to rareasone@chanzuckerberg.com.

3. RFI Questions & Prompts (see above section)

QUESTIONS?

For administrative and programmatic inquiries pertaining to this RFI, please contact rareasone@chanzuckerberg.com with the subject line: RAO RFI. For technical assistance with SMApply, please contact support@smapply.io or while logged into SMApply, click on the information “i” link in the upper right corner and submit a help request ticket.

Detailed submission instructions are available here.

Key Dates
Wednesday, September 29, 2021
Submission portal opens
Tuesday, November 30, 2021
Submissions due by 5 p.m. Pacific Time
Frequently Asked Questions (FAQs)

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.
RFI Contact

For administrative and programmatic inquiries, or other questions pertaining to this RFI, please contact rareasone@chanzuckerberg.com with the subject line: RAO RFI.

Key Dates
September 29, 2021
Submission portal opens
November 30, 2021
Responses due by 5 p.m. Pacific Time

Submission Instructions here.