Genomical FAQ - Genomical

Frequently asked questions

What is Genomical?

Genomical is a digital health platform for genomics. It consists of several proprietary components including third-party genomic software integrated into a single, modular suite of services. Genomical has a unique genomic orchestration service that moves data through an entire genomic test workflow, and stores data securely in the AWS cloud.

Genomical underpins the genomic testing process: from sequenced genome data to analysis, interpretation and clinical reports. It enables medical laboratories to store genomic data securely, access it for further analysis, and even share it in line with patients’ wishes.

What’s the difference between a research system and a clinical system?

A clinical system needs to meet specific data management requirements that underpin NATA accredited workflows. Clinical systems also need to be able to connect to other healthcare systems. Research systems typically do not need to meet these requirements.

Genomical uses a security and privacy-by-design approach as opposed to bolting on security controls after the fact. Genomical utilises highly secure, cloud-based storage through Amazon Web Services, with rigorous processes for authorised access.

What types of tests are supported?

Genomical facilitates the analysis, re-analysis, and curation of targeted sequencing panels, whole exome sequencing and whole genome sequencing for inherited conditions and cancer, for diagnosis, treatment and/or screening and prevention.

Genomical can support a range of technologies including short-reads, long-reads, arrays, DNA and RNA etc.

What tools can be used with Genomical?

Genomical can interface with several best-of-breed tools currently on the market. These include Qiagen Franklin and CLC workbench; AGRF’s bioinformatics services, Illumina’s BaseSpace, Emedgene and Connected Insights; Sophia DDM, Roche’s Mutation Navify Profiler, Geneyx, Oxford Nanopore’s Epi2Me, Invitae’s ArcherDX, PanelApp Australia, CSIRO’s Ontoserver and the IGV browser. It’s modular, meaning that tools can be added to provide new capabilities as needed, including tools you have developed in-house.

What cloud services does Genomical use?

Genomical is currently deployed within the Amazon Web Services (AWS Sydney region) cloud computing environment using serverless architecture enabling access to almost unlimited compute and storage while only paying for what is used.

How do I log into Genomical?

Genomical is accessed using a secure portal with MFA authentication. This portal will enable your organisation to:

Submit your data for genomic analysis
View your metric data as part of the submission
View QC data and trends across previous submissions
Apply your post processing pipelines orchestrated by Genomical
Apply hard-filter gene panels that have been configured in tertiary analysis tools
Review the progress of your submissions
Review business activity reports to monitor costs and usage
Gain access to data previously submitted by your laboratory
Re-submit data that has already been stored in Genomical
Manage the users who access the portal and the functionality they can use
Review audit logs of all the events that occur within the portal by all of your organisation’s users
Share genomic data with other authorised Genomical organisations

What are the Genomical APIs and how do I use them?

Genomical’s Application Programming Interfaces (APIs) are based on the modern health information data standard, FHIR. These features enable the automated flow of data from one system to the next without user intervention, tying together key information and workflows from separate systems.

These APIs enable users to interact directly with GOS, the Genomic Orchestration Service at the heart of Genomical. Using these APIs, Genomical users can perform tasks such as creating new GOS submissions and fetching past submissions. APIs also exist to streamline tasks such as creating new analyses, changing configuration settings and fetching patient test reports.

Can I use my preferred bioinformatics tools with Genomical?

Yes. Many different tools can be used with Genomical. We can assess and work with your preferred tool vendor to ensure that they can use our API framework.

Can I integrate my LIMS and EMR with Genomical?

Many LIMS systems have limited capability to support API integration. Our interoperability team can guide you on how to generate clinical reports in Genomical that are in a compatible format for most of the common EMRs.

What support will I get to implement Genomical?

You’ll have a Genomical project manager and implementation team. Informed by your workflow and requirements, they will design the most efficient way to get Genomical working for your organisation, and work with your team every step of the way. We have comprehensive templates for implementation, which means that for a workflow using tools already integrated in Genomical, onboarding could be as fast as 1-week.

Will I get ongoing support?

Yes. Our operations team provide support services and capabilities to ensure that Genomical and its core services are available and running smoothly for our users. We also work with our customers to support new functionality and improve the user experience.

You can use the Genomical Support Portal to log service requests and track progress.

How secure is Genomical?

Genomical is HIPAA compliant, aligns with the Australian Privacy Principles and Essential 8, and is secure by design; including:

Regular independent security assessments, together with expert security penetration testing and secure code reviews
Specialist tools that perform active monitoring and threat detection
Deployment within the Amazon Web Services (AWS) cloud computing environment, which operates to the world’s best security standards and offers industry-leading data resiliency and durability
Industry standard encryption across every aspect, including all information in transit to and from Genomical, and all information stored at rest in Genomical
Tight user controls including secure multi-factor authentication (MFA) access control and detailed monitoring of data access

What data is stored in Genomical?

Genomic data files and patient and specimen information are all stored in Genomical and your lab remains in control of the data. Genomical does not hold photographs, diagrams of family trees, financial information, driver licences, passports or Medicare information.