Build a Research Resource: Integrated Disease Registry and Repository Services through PatientCrossroads and the NIGMS Repository at Coriell

The NIGMS Repository at Coriell and PatientCrossroads have teamed up to provide researchers and patient communities with a unique solution that advances research and unites stakeholders in rare disease. Sharing data and samples through integrated registry and repository services allows researchers to learn more about diseases and accelerate the development of treatments.

What is a Registry?
A registry is a program to organize and identify groups of patients with a given disorder, and can be used to improve disease understanding and advance research activity. Registries provide unique opportunities to bridge the gap that exists between researchers who need patient data and patients who want to participate in research opportunities.

Many registries capture patient data that is entered by clinic representatives at multiple locations. This method of collecting data is very costly and time consuming. PatientCrossroads takes a hybrid approach to capturing patient medical information. Patients provide their medical history and test results, and registry curators review the records to ensure their accuracy - resulting in a better understanding of the patient population. De-identified data can be shared with all stakeholders, including, patients, families, clinicians and researchers, to accelerate disease discoveries.

What is a Repository?
A repository is a collection of biological samples; the NIGMS Repository at Coriell collects blood and tissue samples and stores medical information, similar to how a bank stores money. People who have a heritable genetic disease or chromosomal abnormality make "deposits" into the Repository by giving a blood or tissue sample for scientists to use in research. Qualified scientists can make a "withdrawal" from the Repository by requesting specific samples and the corresponding medical information.

About the NIGMS Repository
The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository is housed at the Coriell Institute for Medical Research, an independent, not-for-profit research organization dedicated to understanding human genetic diseases and providing the highest quality genetic resources. The NIGMS Repository was established in 1972 to provide the international scientific community with highly characterized cell lines and DNA from individuals with a variety of heritable genetic diseases and chromosomal abnormalities for use in research. The NIGMS Repository also includes samples from individuals from several distinct population groups, representing a broad spectrum of human variation.

About PatientCrossroads
PatientCrossroads is a leading provider of registry systems that connect patient communities with research investigators and is the provider of the Global Rare Disease Registry sponsored by the Office of Rare Diseases Research at the National Institutes of Health (NIH). PatientCrossroads registries are developed to collect key clinical data and test results from participants or healthcare providers, in partnership with organizations of all sizes, from ultra-rare disease advocacy foundations through leading pharmaceutical companies.

How are the NIGMS Repository and PatientCrossroads Working Together?
PatientCrossroads is working with the NIGMS Repository at Coriell to link medical information collected in patient registries to blood and tissue samples that are donated by registry participants to the Repository. The registry data is very useful to scientists who will use the Repository samples to learn more about a particular disease or condition. No names, dates of birth, or other identifying information is shared between a registry and the Repository.

Why Establish a Patient Registry?

• Characterize and understand the global patient community
• Reduce fragmentation of patients and data
• Provide data for pre-clinical and clinical research
• Facilitate research recruitment and reduce enrollment lag
• Connect families to research opportunities
• Promote improved diagnosis and medical care among families and healthcare providers
• Share key resources (infrastructure, human subjects, patient data, costs)

Why Donate Samples to the NIGMS Repository at Coriell?
To give scientists around the world the ability to:

• Learn more about your disease
• To identify the genetic cause of disease
• To develop and test new diagnostics, treatments and cures

Who Can Use Repository Samples?
The NIGMS Repository is a public repository funded by the National Institutes of Health. Samples donated to the NIGMS Repository are accessible to qualified investigators world-wide.

Benefits of Using PatientCrossroads and Coriell for your Registry and Repository
The more medical information that can be provided with a sample, the more valuable that sample is to the research community. Since PatientCrossroads and the NIGMS Repository are working together, registry participants who donate a sample to the Repository will not have to provide their medical data twice. The NIGMS Repository will be able to get the information needed to describe the sample donors from the registry records. Furthermore, registry participation allows longitudinal data on Repository donors to be made available, resulting in enhanced understanding of the course of disease over time.

What Does it Cost?
PatientCrossroads has a range of registry structures available to accommodate non-profit and commercial organizations of all sizes and needs. There is no cost for patients to participate in rare disease registries. Contact PatientCrossroads to learn more.

There is no cost to donate samples to the NIGMS Repository. Once the Repository has determined that a sample can be accepted, the Repository provides specimen collection kits, covers the cost of kit shipment both ways, and can reimburse donors up to $40 for the cost of a blood draw.

How Coriell Protects Privacy
Coriell takes the privacy and confidentiality of each donor very seriously and employs the following measures to protect privacy:

• Assignment of a code number to each sample
• Not entering donor’s name or any other personally identifying information into our main Repository database; removal of donor’s name from any medical documents provided to the Repository
• Strict guidelines forbidding the Repository from distributing ANY personally identifying information to recipients of samples
• A Certificate of Confidentiality from the National Institutes of Health—This protects the Repository from being compelled by federal, state or local court order to disclose your participation without your written consent

How PatientCrossroads Protects Privacy
PatientCrossroads is deeply committed to the privacy of all participants, and will take every available measure to ensure the security and privacy of registry data. Each person is assigned a unique patient identification number. Only assigned registry staff has access to personally identifying information. Information intended to be shared with the disease community is de-identified to remove patient identifiers including names, date of birth, email addresses, and many other items prior to making the data available. Any information that could identify participants will not be shared without their expressed approval and according to each registry’s policies. All of the information provided to PatientCrossroads registries is maintained in a secure HIPAA-compliant system.

Frequently Asked Questions
Questions From Researchers and Registry/Repository Sponsors

Is there a minimum number of patients to be involved with the registry or repository?
No- The NIMGS Repository collects samples from individuals who have any heritable genetic disease or chromosomal abnormality, so there is no minimum number of patients required in order to submit samples to the Repository. However, prior to submitting samples to the NIGMS Repository, it is necessary to confirm that they can be accepted, as there are limits on the number of samples that can be collected each year. Patient registries do not need a minimum number of participants; in fact, registries are often used to estimate the number of people affected by a disease. Furthermore, PatientCrossroads offers a multi-disorder registry to include people with conditions that are not already represented in a disease-specific registry.

Is there a limit to the number of patients who can be involved in the registry or repository?
Prior to shipping sample collection kits, the NIGMS Repository reviews its current inventory to determine whether additional samples can be accepted for a given disease or chromosomal abnormality. The goal of the NIGMS Repository is to broadly represent the genetic and phenotypic diversity of each disease. In the event that a proposed collection is too large for the NIGMS Repository to accept, a private repository can be established through Coriell.

Patient registries do not have a limit on the number of participants. Each registry can be designed according to the aims and goals of the sponsoring organization, and all registries can accept very large numbers of participants.

How long does it take to set up the registry or repository?
It takes approximately 6 to 12 months from the time samples are donated to the NIGMS Repository until the samples are available in the online catalog for scientists to access for use in research. This time frame varies based on sample growth characteristics and the amount of time it takes to collect and review the clinical information that is needed to describe the samples.

A typical registry program takes approximately 2 – 4 months depending on the design of the registry, availability of the scientific reviewers and readiness of the organization. Preliminary contact registries can be assembled in as little as 1-2 weeks.

How can data or specimens from other research projects be included?
The NIGMS Repository is able to accept the transfer of existing cell lines originally created for other research purposes. The research participants would need to be contacted and would need to sign a consent form giving the researcher permission to transfer his or her cell line to the NIGMS Repository.

In similar fashion, data from other registries or research programs can be included into existing registries. On an individual basis, participants would need to be contacted to sign a release form permitting transfer of information to the registry. Entire datasets may also be transferred to existing or new patient registries, an option which is useful to researchers who have datasets from studies that have lost funding. Investigators interested in housing existing datasets in a registry are encouraged to contact PatientCrossroads for further information.

What resources are available to help build the registry/repository?
The NIGMS Repository and PatientCrossroads staff are able to assist with developing brochures or other marketing materials to promote the registry and repository. Additionally, NIGMS Repository and PatientCrossroads staff may be available to speak at patient advocacy group meetings about how the sample donation process and registries work. PatientCrossroads staff is involved in the implementation of the registry from conception through ongoing management, and offers proven survey and communication components to accelerate the development of your registry. Similarly, NIGMS Repository staff work closely with sample donors and advocacy organizations to facilitate the sample submission process and collect samples from a variety of sources, ranging from individual donors to group collections at family conferences and donations through investigators.

How does the NIGMS Repository keep track of samples and de-identified medical information?
The NIGMS Repository maintains a state-of-the-art laboratory information management system that stores sample information in a secure database that is frequently backed up. As a specimen progresses through the cell culturing pipeline, the database is updated with sample information as it is obtained or generated.

How does the NIGMS Repository ensure the safety of samples?
The NIGMS Repository stores specimens derived from your blood or tissue in liquid nitrogen tanks on-site at Coriell and off-site in another location. This "fail-safe" storage guarantees that your sample is stored in more than one place so that if something were to happen to the samples in one location, the samples in the backup location would still be available.

Can patient registries help my research studies?
Patient registries can contribute to research studies in multiple areas, including data collection, site identification, feasibility assessments, pre-screening, recruitment, data housing and more. Proprietary survey modules can be added to registries, in accordance with the individual registry’s policies. Registries may also communicate important news and findings to stakeholders in a disease community, including patients, families and healthcare providers.

Questions From Parents
I’m just a single patient or parent of a child with a rare disease. Can I/my child participate?
Yes-you/your child are able to donate a sample to the NIGMS Repository. In the absence of a specific patient registry, the NIGMS Repository utilizes its own forms to collect the important medical and family history information needed to adequately describe donated samples for use in scientific research.

Participation in a registry is available through one of many disease-specific registries, or through a multi-disorder registry for any conditions that are not represented by existing registries. Contact the NIGMS Repository or PatientCrossroads staff for further assistance.

Can I change my decision and stop participating in the future?
Since the NIGMS Repository requires that samples be de-identified, donated samples are not able to be withdrawn.

Registry participants may withdraw from participation at any point by notifying the registry staff. Specific details are available from each individual registry.

How will participating in a registry/repository benefit me/my child?
When you donate a sample to the NIGMS Repository or participate in a registry, you are enabling scientists to study how your disease affects a person like you. Scientists need this information to help better understand your disease and how you are affected over time, to learn how many people are affected with a disorder, to identify new genes or modifying genes, and to work towards the development of diagnostics, treatments and potential cures.

Registries also help families stay updated about the latest news and research participation opportunities for their condition. In order to get the most benefit and information, registry participants are encouraged to keep their medical information up-to-date.