The Australian node of the Human Variome Project (HVPA) has established systems and processes for capturing, curating, interpreting and sharing genetic variant information for diagnostic, treatment and research purposes. To support the accurate interpretation of variant information, linkage to clinical treatment and outcomes data from relevant health service providers is required. Unfortunately, the required clinical data is not collected systematically within the Australian healthcare system and linkage of such data is beyond the scope and resources currently available to HVPA. HVPA has partnered with BioGrid Australia, an independent not-for-profit organisation that provides a framework and infrastructure for data linkage and sharing that addresses patient privacy, data security, ethical issues and intellectual property concerns. Importantly, BioGrid’s vision and mission closely align with that of the Human Variome Project. Furthermore, BioGrid has existing relationships with, and linkages to clinical data from, numerous healthcare service providers, research institutes and universities around Australia. While BioGrid’s governance and legal framework, coupled with its existing infrastructure, provides the requisite platform to achieving national linkage of clinical data with the HVPA collected variant data, this requires time and significant stakeholder engagement to achieve. However, within the existing network of HVPA and BioGrid collaborators, we are currently undertaking a project to demonstrate the real potential value of data linkages for clinical and research purposes. A number of clinicians treating colorectal cancer at The Royal Melbourne Hospital are existing collaborators of both HVPA and BioGrid, providing an excellent opportunity to examine the potential benefits of data linkage. The pilot project is seeking to link deidentified, patient record level data from a range of sources with the goal of determining the depth and breadth of clinical data available for patients with specified variants at The Royal Melbourne Hospital. The secondary goal of this project is to determine whether, on review by subject matter experts, this clinical information can be used to support the determination of the pathogenicity of identified variants. We will discuss progress towards the first goal, however a detailed discussion of the second goal is beyond the scope of this abstract. By using existing clinical datasets and BioGrid’s data linkage platform to integrate de-identified, patient record level clinical and genetic data, HVPA can efficiently build a national capability to capture, curate and interpret genetic variant information. Further leveraging BioGrid’s online data access application system that incorporates scientific review with ethics committee oversight, HVPA can also ensure that data is shared with authorised users for approved diagnostic, treatment and research purposes.

1. Maureen Turner, BioGrid Australia
Leon Heffer, BioGrid Australia
Alice Johnstone, BioGrid Australia
Timothy Smith, HVP Australia
John-Paul Plazzer, Royal Melbourne Hospital, Australia
Alan Lo, V3 Alliance, Australia
Finlay Macrae, Royal Melbourne Hospital, Australia
Linking Genomic and Clinical Data:
The HVPA-BioGrid Experience
The Human Variome Project 5th Biennial Meeting
19-23 May 2014 UNESCO, Paris

2.  Data sharing considerations and challenges
 Collaborative federation model
 BioGrid – a grass roots solution
 Data ethics, privacy, security for research
 Dynamic data linkage – how BioGrid works
 Data access management
 HVPA-BioGrid: linking genomic & clinical data
Overview

3. Clinical
- Colorectal Cancer
- Breast Cancer
- Diabetes
- Cardiac Surgery
Population Health
- Cancer Registries
- Screening Registries
- Diabetes Registries
- Rare Diseases
Government
- Death Dates/Cause
- Admitted Episodes
- Bureau Statistics
- Medicare PBS
Research
- Biospecimens
- Clinical Trials
- Audit
- Quality of Life
Administration
- Demographics
- Admissions
- Procedures
- Events
In-Hospital
- Pharmacy
- Pathology
- Radiology
- Imaging

4.  Maintaining patient privacy
 Ethics approval for process and projects
 Data governance framework
 Secure data management
 Authorised data access
 Protection of intellectual property
 Infrastructure capability
Data Sharing Considerations and
Challenges

5.  Collaboration governance
 IP management (collaboration and project specific)
 Framework for undertaking projects
 Commercialisation of project IP
 Data access and usage management
 Terms for acknowledgement in presentations
and publications etc. from use of data
BioGrid Collaboration Agreement

6.  Established 2003 via Bio21 Cluster Victoria
to address difficulties of conducting
patient-specific privacy-protected research
across institutions and diseases
 Created by clinical researchers to ethically
access existing and incorporate new data
sources for clinical research
 Not-for-profit company limited by guarantee
owned by 28 members (43 institutions)
Background

7.  BioGrid specialises in linkage of clinical
datasets that reside within hospitals and clinics
 BioGrid operates in a virtual environment
enabling data to be connected and linked
across institutions, jurisdictions and diseases
 BioGrid provides a centralised infrastructure
and resource for the secure integration of data
on behalf of its members and collaborators
BioGrid Expertise

8. BioGrid Members and Collaborators

9.  Ethics approval at each participating institution for
BioGrid linkage methodology and processes
 Data access controlled and provided
- ONLY to authorised users (Data Custodian, HREC)
- ONLY in de-identified form
- ONLY for ethically approved projects
 Data governance and security
- Unique subject identifier (linkage key) encrypted
- Regular external security audits
- All data queries monitored and logged
 Data custodian retains FULL control over their data
Data Ethics, Privacy and Security

12.  Streamlined process, single online application
- Science - Data requested
- Ethical considerations - People involved
 Agree to BioGrid Collaboration Terms and Conditions
re data use/security, IP, privacy
 Data custodian reviews application, access provided
per project application ONLY when approved by
data custodian
 HREC (low-risk sub-committee) reviews application
 Application to Access granted ~1 month (avg)
Applying for Access to Data

13. Royal
Melbourne
Hospital
Canberra
Hospital
Royal
Hobart
Hospital
Royal
Adelaide
Hospital

14. Royal
Melbourne
Hospital
Canberra
Hospital
Royal
Hobart
Hospital
Royal
Adelaide
Hospital

15. Royal
Melbourne
Hospital
Canberra
Hospital
Royal
Hobart
Hospital
Royal
Adelaide
Hospital

16. Royal
Melbourne
Hospital
Canberra
Hospital
Royal
Hobart
Hospital
Royal
Adelaide
Hospital

17. Royal
Melbourne
Hospital
Royal
Adelaide
Hospital
Canberra
Hospital
Royal
Hobart
Hospital

18.  NeCTAR grant to improve HVPA data collection
tools and to generate and capture data linkage
keys for use on the BioGrid platform to enable
molecular data to be linked to clinical data
HVPA-BioGrid (NeCTAR Project)
 Grant Partners: University of Melbourne,
V3 Alliance, University of South Australia,
HVP International, InSiGHT, BioGrid Australia,
Melbourne Health (Royal Melbourne Hospital)
 Pilot linkage project with HVPA, InSiGHT and
Melbourne Health relating to colorectal cancer

19. BioGrid
Australia
Reports include relevant
genetic variant & clinical
information
HVP Australia Node
Genetic Variant Data
Patient ID #278
Pathology Lab 1
Genetic Variant Data
Pathology Lab 2
Genetic Variant Data
Patient ID #278
Familial Cancer
Clinic
Patient ID #278
Patient
Administration
Patient ID #278
Genetic Testing
Patient ID #278
BioGrid Application,
Review & Approval
Process
Health Service A (e.g. Hospital)
Familial Cancer
Clinic
Hospital
Administration
Patient ID #278
Clinical
Treatment &
Outcomes
Patient ID #278
Health Service B (e.g. Genetics Service)
HVPA-BioGrid (NeCTAR Project)

20. HVP Australia Node
Record Count
Genetic Variant 50K
Health Service A
Record Count
Patient Admin. 1.2M
Familial Cancer Clinics 10,000
Treatment & Outcomes 5,000
Health Service B
Record Count
Patient Admin. 100K
Familial Cancer Clinics 5,000
Genetic Testing 75,000
BioGrid Australia
Records in Common
HVPA-BioGrid (NeCTAR Project)

21. HVP
Australia
Variant
Path
Service A
Variant
Path
Service B
Variant

22. PAS
Path.
FAMBIZ
Health
Service
Chemo.
Service
PAS
Tx
Pharm
Dx.
Admit.
Mortality
Cancer
Registry
HVP
Australia
Variant

23. PAS
Path.
FAMBIZ
Health
Service
Chemo.
Service
PAS
Tx
Pharm
Dx.
Admit.
Mortality
Cancer
Registry
HVP
Australia
Variant

24.  BioGrid is able to integrate de-identified, patient
record level clinical and genetic data
 Enables HVPA to build a national capability to
capture, curate and interpret genetic variant
information
 HVPA can leverage BioGrid’s online data access
application system to ensure data can be shared
with authorised users for approved diagnostic,
treatment and research purposes
Summary

26. Thank You
www.biogrid.org.au
enquiries@biogrid.org.au
+61 (0)3 9342 3167
BioGrid Australia acknowledges its supporters
- BioGrid Australia Members and Collaborators
- National eResearch Collaboration Tools and Resources
- Victorian Cancer Agency, Victorian Department of Health
- Victorian Government Department of Business and Innovation
- Australian Government Department of Innovation, Industry,
Science and Research