Skip to main content

Conference Program

Subpage Hero

Loading

Data Model and Portal Development Supporting Centralization of Genetic Information in a Provincial Research Network

Cancer Genetics and Therapeutics
  • Primary Categories:
    • Non-Clinical
  • Secondary Categories:
    • Non-Clinical
Introduction:
Hereditary cancer syndromes (HCS) account for approximately 10% of all cancer diagnoses, However, in Ontario, the care for HCS patients is often fragmented, leading to inconsistent clinical services and limited access to research and clinical trials. The lack of a province-wide system that integrates genetic data further exacerbates this disparity; however, challenges with interoperability and privacy concerns limit the ability to connect patients with research opportunities.



Supported by the Ontario Institute for Cancer Research (OICR), the Ontario Hereditary Cancer Research Network (OHCRN) is a Canadian Ontario-wide registry designed to overcome these obstacles by leveraging advanced infrastructure to centralize genetic information.

Methods:
To develop a centralized genetic information system, an environmental scan was conducted to assess the needs of Ontario's healthcare community. Feedback was gathered from patients, clinicians, and researchers to identify priorities and requirements.

 

De-identified sample reports were collected from 9 genetic testing laboratories to build a data model. Findings were compared to international data standardization initiatives, including HL7 FHIR mCODE and ISO/TS 20428. Experiences of their early adopters, such as eMERGE in the U.S., were examined. A Pathology Expert Group was formed to guide somatic variant integration, and the draft data model was reviewed by OHCRN committees.

 

In collaboration with the community, OICR’s Genome Informatics team identified technical and security measures required to develop custom software to support this data model.

Results:
OHCRN identified the need for a database to centralize genetic information that can integrate with administrative health databases for research.

 

OHCRN data model includes 96 fields, 36 of which relate to genetic test results, and 37 will be collected directly from participants. Entity relationships were developed to ensure multiple specimens, test results, and diagnoses could be input for each participant. Standard terminology and ontologies were used for various fields to ensure consistency and interoperability with international standards such as mCODE to facilitate future integration and linkage.

 

This data model will be supported by three interconnected portals: patient, coordinator, and research portals. The patient portal will facilitate clinician referrals, electronic consent, and the disclosure of health information. Genetic and pathology data will be entered through the coordinator portal by the study team. The researcher portal will enable the exploration of de-identified data, with the option to re-contact participants if supported by optional participant consent.



Community feedback emphasized the importance of a dynamic e-consent process and robust data security. To increase participant autonomy, the portal will allow them to modify their consent levels, with multi-factor authentication for added security. Researchers will only access data after approval by both a research ethics board and the OHCRN data access committee.

 

The registry will reside in a secure, monitored database with restricted access governed by OICR, whose Information Security program is rated Mature under NIST and CSC standards. Data will be encrypted, protected, and backed up regularly. External third-party threat and privacy assessments will be conducted to resolve any security issues before launch.

Conclusion:
OHCRN aims to improve research access and equity for individuals with HCS by centralizing genetic information within an Ontario-wide registry.

 

OHCRN is unique in its ability to re-identify participants and its technical infrastructure. It is designed to capture both germline and somatic variants, supports interoperability and data linkage, and ensures information security.

 

The OHCRN patient, coordinator, and researcher portals will focus on recruitment, data management, and data exploration, respectively. Ongoing community engagement will ensure the registry meets the needs of patients, researchers, and clinicians alike.

Agenda

Sponsors