GenoVicInformation Pack

Data & Technology

We are an alliance of 10 leading healthcare and research organisations dedicated to bringing the global knowledge of genomics to benefit the individual care of Victorians.

Together, the Royal Melbourne Hospital, The Royal Children’s Hospital, The University of Melbourne, The Walter and Eliza Hall Institute, the Murdoch Children's Research Institute, the CSIRO, the Australian Genome Research Facility, the Peter MacCallum Cancer Centre, Austin Health and Monash Health are forging a path forward for patients, clinicians and researchers to benefit from the enormous potential of genomics.

The work of Melbourne Genomics Health Alliance is:

• assessing genomics in practice

• establishing the best systems

• harnessing the latest research

• building health workers’ skills and knowledge

• ensuring appropriate access to quality information

The vision is for Victoria to be a world leader in using genomics in healthcare.

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The challenges we face in clinical genomics❖ Genomic data is innately personal, genomic data and services will grow as a target of malicious cyber attacks and security

requirements need to exceed the current industry standard to maintain community trust in genomics

❖ Genomic data must be analysed, interpreted and reported, variant curation requires significant resources such as curation experts and clinical geneticists or other clinical experts and has therefore become a critical bottleneck on realising the promise of genomics.

❖ Genomic data is complex and requires significant computational resources, therefore genomic data analysis will require cost effective access to the best and latest computational technologies

❖ Genomic sequencing produces masses of data. Data storage infrastructure need to support the influx of data at scale by providing secure storage, backup, retrieval and management of data at an attractive cost

❖ Clinical genomic data is often not coded and not stored in a well defined structured manner, data should be codified and structured using international standards and established ontologies for exchanging healthcare information electronically so that data can be ingested in a computable sense, shared and reused

❖ Large datasets, associated with phenotypic and clinical information, are required to generate new insights. The linking of genomic information to clinical information is an important step to generate these insights

❖ The current clinical genomic workflow is generally a manual and time consuming process, this workflow should be automated where possible

❖ The genomic landscape and genomic standards are rapidly maturing, systems that are implemented must be flexible and forward thinking

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GenoVic

GenoVic, our shared

clinical system for

genomics, has been

established to support the

integration of genomic

medicine into standard

clinical care.

GenoVic will support the

use of genomic testing,

better enabling accredited

laboratories with a robust

common platform to

perform analysis and

variant curation.

GenoVic will provide the

foundations to facilitate

controlled access to

genomic data to support

secondary use such as

research activities.

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What is GenoVic?

The value of GenoVicA common system for the management, analysis and interpretation of clinical genomic data

❖ GenoVic has been designed, procured and implemented specifically for Melbourne Genomics Health Alliance Members

❖ GenoVic is secure, the ethical governance of patient/genomic data is robust and compliant with regulatory frameworks

❖ GenoVic was built on the principle of reducing waste and sharing of effort, it leverages key learnings particularly in the curation space to address bottlenecks and support its members in the optimisation of workflows

❖ GenoVic is capable of a fully automated end-to-end service from LIMS order request to clinical report generation -currently available with preconfigured Germline and Somatic pipelines

❖ As the genomics landscape is rapidly maturing, GenoVic remains innovative, forward thinking, and enables rapid adoption and acceleration of clinical genomic services for both mature members and fast followers

❖ Data stored within GenoVic uses internationally recognised Fast Healthcare Interoperability Resources (FHIR) and established ontologies (e.g. Human Phenotype Ontology) to exchange healthcare information electronically

❖ GenoVic will deliver a consolidated, scalable, secure, and structured storage capability which will support downstream analyses such as ethical access for researchers (and educators) to patient data for HREC approved studies

❖ GenoVic isolates members from procurement effort, it leverages the Alliance’s buying power to exploit any cost reductions which has led to the implementation of Alliance wide discounts (e.g. reduced license fees based on increased rates of usage)

❖ GenoVic provides the support services and capabilities to ensure that its core systems are readily available

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• Role based access

• Identity and access

control

• Active storage

• Archive storage

• Data life cycle management

• Data retrieval

• Curation Tools

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: The Alliance shared clinical system for genomics (Solution Component View)

• Bioinformatic

Analysis Tools

• Data access and sharing

• Data exploration

• Dashboards

• Cloud analytics

• Data entry

• Logging

• Monitoring

• Service management

• External components

and subsystems

GenoVic Data Flow Diagram

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AWS Architecture

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Key Services

A PLATFORM FOR DEVELOPING AND RUNNING BIOINFORMATICS PIPELINES OR CAPABILITY OF INTEGRATING YOUR OWN ANALYSIS PIPELINE

ALL OF GENOVIC’S SERVICES ARE HOSTED IN AWS SYDNEY. A NUMBER OF AWS SERVICES ARE UTILISED SUCH AS AWS SIMPLE STORAGE SOLUTION (S3).

A SYSTEM FOR FILTERING AND CURATING VARIANTS

THE GENOMIC ORCHESTRATION SERVICE (GOS) IS A CENTRAL POINT, CONNECTING ALL THE INTERNAL PARTS OF GENOVIC WITH EXTERNAL SYSTEMS, ENABLING DATA EXCHANGE AND SHARING.

SECONDARY ANALYSIS

TERTIARY ANALYSIS

Security & Privacy

❖ GenoVic is built to comply with industry best practices to ensure the data is protected. An independent security assessment of the platform, as well as expert security penetration testing provides the assurance that the data held within GenoVic is stored and managed securely.

❖ GenoVic is deployed within the Amazon Web Services (AWS) cloud computing environment. AWS is used by the world’s largest and most successful organisations to deliver their technology platforms, and as such AWS operates to the world’s best security standards and offers industry leading data resiliency and durability.

❖ GenoVic utilises industry standard encryption across every aspect of the platform, including all information in transit to and from GenoVic, ensuring that data is safe from unauthorised access. User access controls within GenoVic coupled with detailed monitoring and logging capabilities enable tracking of data accesses across the system ensuring that only those users who are explicitly granted permission to the data can access it.

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Operations & Support

The Operations Team provides the support services and capabilities to ensure that GenoVic and its core services are up and running and available to users. Operations is governed by the underpinning pillars of People, Processes, Technology, with a strong emphasis on Continuous Service Improvement, where we seek and identify opportunities to further support new functionality of GenoVic and the users' experience.

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END USERS & ALLIANCE MEMBERS

OPERATIONS TEAM

VENDOR SUPPORT TEAMS

END USER SUPPORT

INCIDENT & PROBLEM MANAGEMENT

CHANGE MANAGEMENT

DISASTER RECOVERY & BUSINESS CONTINUITY

ENHANCEMENTS & DEFECT MANAGEMENT

DATA, PRIVACY, & SECURITY MANAGEMENT

TESTING MANAGEMENT

GENOMIC ORCHESTRATION SERVICE

BIOINFORMATIC ANALYSIS TOOLS

CURATION TOOLS

AMAZON WEB SERVICES

MONITORING & LOGGING TOOLS

IT SERVICE MANAGEMENT TOOLS

COLLABORATION TOOLS

PEOPLE PROCESSES TECHNOLOGY

CONTINUOUS SERVICE IMPROVEMENT

Operations & Support

User SupportThe Operations Team is the first point of contact for all technical and user issues, inquiries, and requests, relating to GenoVic and its services.

The Team is available between Monday to Friday, 8:30am to 5:30pm (excluding Australian public holidays), and can be contacted through a range of communication channels such as email, phone, chat, and collaboration tools.

If there is contact made, which requires further action, the Team will create a corresponding support ticket, where updates will be applied and notified back to the user, including if the ticket has been resolved/closed.

The Operations Team will leverage the expertise of its Vendor Support Teams for escalated troubleshooting of issues and requests. The SDM (Service Delivery Manager) oversees the Operations Team and is available 24 x 7, to assist with any critical incidents, urgent matters, and escalations.

If there is a tailored or customised request relating to an existing service, the Operations Team will endeavor to provide the guidance, support, and resources to assist.

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END USER

COMMUNICATION CHANNELS

SDMOPERATIONS

TEAM

SUPPORT

ANALYSIS TOOL

SUPPORT

CURATION TOOL

SUPPORT TICKET

SUPPORT

AWS

CREATE

VENDOR SUPPORT TEAMS

UPDATE

NOTIFY

CLOSE

Operations & Support

Service Level AgreementWe are committed to ensuring the 99.5% uptime and availability (excluding planned maintenance) of GenoVic and its analysis and curation services for our users.

Incident & Request ManagementWe are committed to ensuring any issues, inquiries, and requests relating to GenoVic and its users are accurately prioritised, responded to, and resolved within a timely manner via a support ticket.

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PRIORITY 1

PRIORITY 2

PRIORITY 3

PRIORITY 4

• GENOVIC IS UNAVAILABLE• ANALYSIS AND CURATION

SERVICES ARE UNAVAILABLE

• DATA / SECURITY BREACH• ALL USERS IMPACTED

• GENERAL INQUIRY• ACCOUNT INQUIRY• USER ACCESS INQUIRY /

REQUEST• TRAINING REQUEST• REPORTING REQUESTS• DATA RESTORATION

REQUEST

• ANALYSIS OR CURATION SERVICES’ PERFORMANCE IS DEGRADED

• TECHNICAL ISSUE IMPACTING GENOVIC SERVICES

• POTENTIAL DATA / SECURITY BREACH

• SOME USERS IMPACTED

• OPERATIONAL TOOL/SERVICE/TECHNOLOGY IS UNAVAILABLE/DEGRADED, HOWEVER NO DIRECT IMPACT TO USERS

Priority Response Time Resolution Time Service Target

1 (Critical) 30 minutes 4 hours 90%

2 (High) 60 minutes 1 business day 90%

3 (Medium) 4 business hours 2 business days 90%

4 (Low) 6 business hours 5 business days 90%