Here you’ll find commonly-asked questions about security, interoperability, implementation, support and other topics.
Our expert team can support you to implement Genomical® in your organisation – ensuring you can perform consistent, high-quality genomic tests, with data that can be re-analysed whenever it’s needed.
Genomical is a digital health platform for genomics. It consists of several components – some custom-built, some procured from third-party vendors – integrated into a single, modular suite of services. Genomical has a unique orchestration service that moves data through an entire test workflow, and stores data securely in the AWS cloud.
Genomical underpins the entire 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.
A clinical system needs to meet specific data storage requirements that enable retrieval of patient information. Clinical systems also need to be able to connect to other healthcare systems. Research systems typically do not need to meet these requirements.
Because clinical systems store identifiable information about patients, they need to meet higher privacy and security standards. 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.
Laboratory scientists can use Genomical to facilitate the analysis and curation of targeted sequencing panels, whole exome sequencing and whole genome sequencing for inherited conditions and cancer.Back to top
Genomical lets you use the tools you want and run the reports you need. It doesn’t tie you to a single vendor – it interfaces with the best tools available from a range of providers. Its custom-built orchestration service brings all these tools together to create a streamlined workflow.
Genomical uses healthcare interoperability standards, meaning it can create reports that can be read by your laboratory information system. It’s been tested for integration with a range of systems used by medical laboratories.
Finally, Genomical has been shown to create efficiencies. One laboratory saved over 5 hours per testing batch by eliminating manual processes from genomic testing.Back to top
The Victorian Clinical Genetics Service, Royal Melbourne Hospital, Australian Genome Research Facility, Monash Health, Austin Health and Alfred Health are all currently using Genomical to support accredited genomic sequencing tests.Back to top
Genomical can interface with several best-of-breed tools currently on the market. These include AGRF’s bioinformatics services, Agilent’s Alissa Interpret, Illumina’s BaseSpace, Invitae’s ArcherDX, Australian Genomics’ Shariant, Genomics England’s PanelApp, CSIRO’s Ontoserver and Cromwell. It’s modular, meaning that tools can be added to provide new capabilities as needed.Back to top
Once your laboratory has been onboarded and you have been verified as a legitimate user, an account will be created for you to enable you to register and log into Genomical for the first time.
Genomical is accessed using a secure portal with user authentication. This portal will enable your organisation to:
Genomical’s Application Programming Interfaces (APIs) are based on the modern health information data standard, FHIR, and HL7 V2. 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 action tasks in Alissa Interpret to streamline tasks such as creating new analyses, changing configuration settings and fetching patient test reports.
To make use of Genomical’s APIs, a Genomical user is required to have an AWS account that has been authorised to interact with GOS. Once authorised, calls to the APIs can be made from any tool or language that supports AWS v4 signing.Back to top
Bioinformatics pipelines are custom created for each lab to perform any post-processing steps required, before passing the data into a third-party variant interpretation software, such as Alissa Interpret or other preferred tool.
These post-processing steps can include transforming genomics files (e.g. VCFs) into a format supported by Alissa Interpret, performing variant annotation (e.g. using VEP) and computing quality control statistics.
The bioinformatics pipelines in Genomical are developed in collaboration with the Genomical team. The post-processing pipelines are custom created for each organisation and are developed in an iterative manner. We are also able to support the maintenance and upgrade of these pipelines.Back to top
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.Back to top
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.Back to top
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.Back to top
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 users to support new functionality and improve user experience.
You can use the Genomical Support Portal to log service requests and track progress.Back to top
Iterative development and continuous improvement are core to Genomical. Our team uses best practice change and release processes to deploy software updates into the Genomical production environment. This helps laboratories with their accreditation processes.Back to top
Genomical is secure by design and includes the following controls:
Genomic data files and patient and specimen information are all stored in Genomical. Your organisation remains in control of the data. Your organisation’s data is stored separately from data belonging to any other organisations who use Genomical. Strict controls are in place relating to ensure no patient-identifying information is released.
Genomical does not hold photographs, diagrams of family trees, financial information, driver licences, passports or Medicare information.Back to top
The Genomical team acknowledges the Wurundjeri, Gunaikurnai and all First Nations peoples on whose lands we live and work. We pay respect to their Elders, past and present. We also acknowledge the First Nations scientists, researchers and leaders who are shaping the future of genomic medicine.