Putting Real World Rare Disease Data in Researcher’s Hands

Request Access to RARE-X Data

GETTING STARTED: Instructions and Tips for Researchers Requesting Data Access

All researchers interested in gaining access to patient-level RARE-X data need to complete these steps:

STEP 1: Request Access to RARE-X Data

This RARE-X form collects data about the researcher’s purpose, IRB study details (if applicable), and requested subsets of data. Once this request is completed, it will be reviewed by the RARE-X Data Access Committee. After the request is processed by the Data Access Committee, you could be asked to supplement or update your request if additional information is needed to approve access to the data.

STEP 2: Complete the Data Use Agreement Process

Once the request has been approved, the Data Use Agreement (DUA) will be routed via DocuSign to the Principal Investigator and then the Institutional Signatory who have been listed in the request form. Once the agreement is completed by both the requestor’s institution and RARE-X, you will receive additional documentation on how to register for a Terra account, set up your Google Billing account, and Terra Billing Project that will allow us to create your workspace and post data to it.

STEP 3: Register for an Account on Terra

Registering for a Terra account can be done while waiting for the RARE-X data access review to be completed.

Note: Registration and Terra access requires both a Google Account & the Google Chrome browser. (Google allows users to create an account linked to their current email address.)

STEP 4: Set up Billing

On Terra, you will be prompted to set up a billing account. This account will only be used if you perform cloud-based computing analyses on the Terra platform.

Terra offers $300 credits for users that are new to the Google Cloud Platform, which should be sufficient to fund research on the RARE-X data for a very long time! Simple scripts run on the RARE-X data are likely to either incur no charge at all, or a charge of less than $1. The $300 credit is more likely to be useful for moving and storing external data and running interactive or complex workflow analyses.

STEP 5: Access Data

Once the DUA has been executed by all parties and the requestor has notified
[email protected] that they have successfully set up their Google Billing Account, Terra account and Terra Billing Profile, you will receive a notification with a link to access the data in a Terra workspace. This data set will include a subset of current RARE-X data, aligned with:

Patient Data Sharing Preferences: In the RARE-X Data collection platform, patients own their data and control how it is used. For example, some patients stipulate that their data can only be used for IRB-approved or non-commercial purposes.

Researcher Needs & Questions: Researchers interested in data from all of the disease groups on the platform can gain access to that. Researchers who only want to access data from a specific disease or group of diseases can receive a filtered data set more tailored to their research interests.

STEP 6: USE the data!

Your Terra workspace is a computational sandbox where you can organize data and tools and run analyses. To learn more about workspaces and all the other things you need to know to hit the ground running in Terra, check out the Knowledge Center.

If you are new to cloud computing and need help running analyses, please reach out the RARE-X Data Access Team [email protected].

FAQ

What is a Data Access Request (DAR)?

DAR stands for Data Access Request and is a form submitted by someone requesting RARE-X data. It details the type of data requested and the intended purpose of the research.

What is the purpose of the RARE-X Researcher Data Use Agreement (DUA)?

The DUA allows researchers to access data on rare diseases through RARE-X. It outlines terms and conditions to ensure the data is used responsibly, securely, and ethically. A completed DUA requires signatures from a legal signing authority from the requesting party and from RARE-X.

Who can submit a DAR for RARE-X data?

The majority of the RARE-X data requests come from academic or clinical researchers. Patient advocate groups can also submit a DAR. We have a separate process for requesting aggregate data visualizations. If you are interested in aggregate data visualizations, please follow this link.

How do researchers access the data?

Step 1: Submit a DAR specifying the data needed and the purpose of the research.
Step 2: Once approved, authorized users from the requesting institution will have access to the data under the agreed terms.
Access Duration: The access is granted for three years, with the option to renew.

What responsibilities do researchers have?

Researchers are expected to:

Use the data strictly for the approved project and adhere to the agreed terms.
Maintain confidentiality and prevent unauthorized access to the data.
Comply with all relevant laws, professional standards, and their institution’s policies.

As a data requestor, who at my institution will be responsible for signing the DUA?

Most institutions designate a specific official, such as someone in the Office of Sponsored Programs, Office of Research, Technology Transfer Office, Data Steward or Data Governance Lead, Legal Counsel, or Compliance Officer, to sign DUAs. In some cases, the Data Requestor or PI may be required to sign as well.

How long does it take to get access to the data?

Typically it takes at least a couple of months for the entire data access process to be completed. It may take the Data Access Committee a couple of weeks to process the request and getting the DUA executed by both the requestor’s institution and RARE-X has taken anywhere from 1-8 months depending on whether the agreement is accepted as is or there is a need to discuss potential changes.

How is privacy and data security maintained by data requesters?

Handling Personal Data: Personal data of research participants must comply with privacy laws and security standards.
Storage: Data must be stored securely, and access should be limited to approved users only.
Incident Reporting: Institutions must promptly notify Global Genes of any security breaches, incidents, or significant changes.

What are the publication requirements?

Any publications resulting from the use of RARE-X data must acknowledge the data providers. This information is described in greater detail in our DUA.

What is my DUA reference number?

All signed Global Genes/RARE-X DUAs are assigned a DUA reference number for internal tracking. The format of these reference numbers is: RX-[institution name]-DUA-###

What happens if the agreement is terminated?

Termination Notice: Either party may terminate the agreement with 90 days’ notice.
Data Destruction: Upon termination, all accessed data must be destroyed unless legal requirements mandate its retention.

Who owns the data and research outcomes?

Data Ownership: Global Genes retains ownership of the data.
Research Results: Results derived from the data are owned by the researcher’s institution.
If you have additional questions or need further clarification, please contact the Global Genes RARE-X support team.

How is data added to the RARE-X Platform?

RARE-X data is provided by patients and caregivers across a wide spectrum of rare diseases. Data is generated from patient reported outcomes or surveys that are specific to a patient’s symptoms and disease. RARE-X also curates data from genetic test reports.

What kinds of data requests can be made?

Data requests can be customized to the needs of each researcher. Patients have the ability to choose exactly how their data is shared (i.e. commercial vs non-commercial research, IRB sponsored research, etc). Examples of data requests include:

US vs international patient data
Aggregated vs individual patient level data
De-identified vs identified data

How does RARE-X define different kinds of research as listed in the DAR?

“General Research” is the broadest type of research. It includes Health/Medical/Biomedical research and other kinds of studies that are not related to health such as:

Research on age, race, and ethnicity
Research studying traits such as how long people live or how easily they may get sick
Research about genetic traits of different populations
Studies to develop survey questions to improve research

“Health/Medical/Biomedical Research” is defined as research used to learn more about a health condition, its cause, symptoms, progression and treatments. It is slightly less broad than General Research.

RARE-X uses these definitions of research to give patients control over how their data is shared. If you have questions about which category your research falls under, please reach out to the Data Access Committee at [email protected]

What diseases and conditions are currently on the RARE-X Platform?

The RARE-X platform currently supports more than 120 patient advocacy groups across over 80 disorders. Please visit our Rare Disease Community website for more information. If your disease is not currently part of the RARE-X platform, or if your rare disease is undiagnosed, you can still join the RARE-X platform and contribute valuable data.

Can I still access the RARE-X data if I don’t have an IRB-approved study?

Yes! Most participants entering data on the RARE-X platform allow their data to be used by researchers without an explicit IRB-approved study protocol. If participants from the community you requested data from chose to share their data only with IRB-approved studies, you may have access to a smaller dataset.

Terra Terms & Definitions

What is the cost of accessing the data in Terra?

The only cost you have to pay to access the data is the cloud storage costs, which is charged in cents and typically does not incur more than a couple of dollars a month depending on the size of the dataset you have access to. There are additional costs associated with running analysis or workflows within the Terra environment, which charge a set rate in cents per hour and accrue based on the number of compute hours you use each month.

Using Google Credits in Terra – how much will this cost me?

IF your analyses incur computing costs (and simple scripts on our data might not), that computing time will likely result in a charge of <$1 per analysis. If you upload your own, more complex data to Terra, that may incur a higher charge, but is still probably very reasonable.

[Link to “Get $300 Google credits.”] GCP credits will cover the cost of operations like moving and storing data and running interactive or workflow analyses.

Do I have to create a Gmail account in order to have a Google account and access the data?

NO. You can follow these steps to create a Google Apps account associated with your existing email address:

Go to the Google sign-up page. Under “Choose your username”, click “I prefer to use my current email address”. With your new Google account set up, you’ll be able to register for Terra with that email address.

If I create my own Terra workspace and take the time to set up analyses of interest to my research, will that data be updated over time, as additional patient (participant) data is added?

RARE-X can update the data monthly or at a less regular cadence if desired.

In Terra, what is a Snapshot in Terra? How is that different from a workspace? What is a workflow and do I need to bring my own?

Workspace: An environment containing shared data and tools. When you first gain access to the RARE-X data, you will be provided with a workspace that includes a clone of the RARE-X data. This will have a name that enables both you and the RARE-X team to find it, including your name, a project name, and the date.

Snapshots: Copies of data sets to enable researchers to work on data without affecting the original data set. RARE-X will create a snapshot and pull it into a Terra workspace for your analyses.

Workflow: A way to create high throughput analyses. Many of these are pre-built into the Terra environment, such as genetic variant interpretation workflows. Researchers can create or bring their own workflows into their workspace.