Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.

Interoperable medical data: The missing link for understanding COVID-19.

Being able to link clinical outcomes to SARS-CoV-2 virus strains is a critical component of understanding COVID-19. Here, we discuss how current processes hamper sustainable data collection to enable meaningful analysis and insights. Following the 'Fast Healthcare Interoperable Resource' (FHIR) implementation guide, we introduce an ontology-based standard questionnaire to overcome these shortcomings and describe patient 'journeys' in coordination with the World Health Organization's recommendations. We identify steps in the clinical health data acquisition cycle and workflows that likely have the biggest impact in the data-driven understanding of this virus. Specifically, we recommend detailed symptoms and medical history using the FHIR standards. We have taken the first steps towards this by making patient status mandatory in GISAID ('Global Initiative on Sharing All Influenza Data'), immediately resulting in a measurable increase in the fraction of cases with useful patient information. The main remaining limitation is the lack of controlled vocabulary or a medical ontology.

Running Genomic Analyses in the Cloud.

Genomic testing is rapidly moving into healthcare practice. However it comes with informatics challenges that the healthcare system has not previously faced - the raw data can be hundreds of gigabytes per test, the compute demands can be thousands of CPU hours, and the test can reveal deeply private health-srelated information that can have implications for anyone related to the person tested. While not a panacea, cloud computing has particular properties that can ameliorate some of these difficulties. This paper presents some of the key lessons learned while deploying a set of genomic analyses on cloud computing for Queensland Genomics.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Australian Genomics is a national collaborative research partnership of more than 80 organizations piloting a whole-of-system approach to integrating genomics into healthcare that is based on federation principles. The aim of Australian Genomics is to assess the application of genomic testing in healthcare at the translational interface between research and clinical delivery, with an emphasis on robust evaluation of outcomes. It encompasses two bodies of work: a research program prospectively providing genomic testing through exemplar clinical projects in rare diseases, cancers, and reproductive carrier screening and interdependent programs for advancing the diagnostic, health informatics, regulatory, ethical, policy, and workforce infrastructure necessary for the integration of genomics into the Australian health system.

The development and electronic delivery of case-based learning using a fast healthcare interoperability resource system.

HL7 International's Fast Healthcare Interoperability Resources (FHIR) standard provides a common format for sharing health data (eg, FHIR resources) and a RESTful Application Programming Interface (eg, FHIR API) for accessing those resources via a FHIR server connected to an electronic health record system or any other system storing clinical data. Substitutable Medical Applications and Reusable Technologies (SMART) leverages FHIR to create an electronic health record (EHR) agnostic app platform. It utilizes the OAuth standard to provide for authorization and authentication. This paper describes the development and informal evaluation of Case Based Learning on FHIR (CBL on FHIR), a prototype EHR-connected FHIR/SMART platform to provide interactive digital cases for use in medical education. The project goals were to provide a more interactive form of CBL than is possible on paper to more realistically simulate clinical decision making and to expose medical students to modern informatics systems and tools for use in patient care.

ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

The Clinical Genome Resource (ClinGen)'s work to develop a knowledge base to support the understanding of genes and variants for use in precision medicine and research depends on robust, broadly applicable, and adaptable technical standards for sharing data and information. To forward this goal, ClinGen has joined with the Global Alliance for Genomics and Health (GA4GH) to support the development of open, freely-available technical standards and regulatory frameworks for secure and responsible sharing of genomic and health-related data. In its capacity as one of the 15 inaugural GA4GH "Driver Projects," ClinGen is providing input on the key standards needs of the global genomics community, and has committed to participate on GA4GH Work Streams to support the development of: (1) a standard model for computer-readable variant representation; (2) a data model for linking variant data to annotations; (3) a specification to enable sharing of genomic variant knowledge and associated clinical interpretations; and (4) a set of best practices for use of phenotype and disease ontologies. ClinGen's participation as a GA4GH Driver Project will provide a robust environment to test drive emerging genomic knowledge sharing standards and prove their utility among the community, while accelerating the construction of the ClinGen evidence base.

Identifying symptom groups from Emergency Department presenting complaint free text using SNOMED CT.

Patients presenting to Emergency Departments may be categorised into different symptom groups for the purpose of research and quality improvement. The grouping is challenging due to the variability in the way presenting complaints are recorded by clinical staff. This work proposes analysis of the presenting complaint free-text using the semantics encoded in the SNOMED CT ontology. This work demonstrates a validated prototype system that can classify unstructured free-text narratives into patient's symptom group. A rule-based mechanism was developed using variety of keywords to identify the patient's symptom group. The system was validated against the manual identification of the symptom groups by two expert clinical research nurses on 794 patient presentations from six participating hospitals. The comparison of system results with one clinical research nurse showed 99.3% sensitivity; 80.0% specificity and 0.9 F-score for identifying "chest pain" symptom group.

The Australian e-Health Research Centre: enabling the health care information and communication technology revolution.

The CSIRO (Commonwealth Scientific and Industrial Research Organisation) and the Queensland Government have jointly established the Australian e-Health Research Centre (AEHRC) with the aim of developing innovative information and communication technologies (ICT) for a sustainable health care system. The AEHRC, as part of the CSIRO ICT Centre, has access to new technologies in information processing, wireless and networking technologies, and autonomous systems. The AEHRC's 50 researchers, software engineers and PhD students, in partnership with the CSIRO and clinicians, are developing and applying new technologies for improving patients' experience, building a more rewarding workplace for the health workforce, and improving the efficiency of delivering health care. The capabilities of the AEHRC fall into four broad areas: smart methods for using medical data; advanced medical imaging technologies; new models for clinical and health care interventions; and tools for medical skills development. Since its founding in 2004, new technology from the AEHRC has been adopted within Queensland (eg, a mobile phone-based cardiac rehabilitation program), around Australia (eg, medical imaging technologies) and internationally (eg, our clinical terminology tools).

Developing a national emergency department data reference set based on SNOMED CT.

Emergency departments around Australia use a range of software to capture data on patients' reason for encounter, presenting problem and diagnosis. The data collected are mainly based on descriptions and codes of the International Classification of Diseases, 10th revision, Australian modification (ICD-10-AM), with each emergency department having a tailored list of terms. The National E-Health Transition Authority is introducing a standard clinical terminology, the Systematized Nomenclature of Medicine--Clinical Terms (SNOMED CT), as one of the building blocks of an e-health infrastructure in Australia. The Australian e-Health Research Centre has developed a software platform, Snapper, which facilitates mapping of existing clinical terms to the SNOMED CT terminology. Using the Snapper software, reference sets of terms for emergency departments are being developed, based on the Australian version of SNOMED CT (SNOMED CT-AU). Existing software systems need to be able to implement these reference sets to support standardised recording of data at the point of care. As the terms collected will be part of a larger terminology, they will be useful for patients' admission and discharge summaries and for computerised clinical decision making. Mapping existing sets of clinical terms to a national emergency department SNOMED CT reference set will facilitate consistency between emergency department data collections and improve the usefulness of the data for clinical and analytical purposes.

Symbolic rule-based classification of lung cancer stages from free-text pathology reports.

OBJECTIVE: To classify automatically lung tumor-node-metastases (TNM) cancer stages from free-text pathology reports using symbolic rule-based classification. DESIGN: By exploiting report substructure and the symbolic manipulation of systematized nomenclature of medicine-clinical terms (SNOMED CT) concepts in reports, statements in free text can be evaluated for relevance against factors relating to the staging guidelines. Post-coordinated SNOMED CT expressions based on templates were defined and populated by concepts in reports, and tested for subsumption by staging factors. The subsumption results were used to build logic according to the staging guidelines to calculate the TNM stage. MEASUREMENTS: The accuracy measure and confusion matrices were used to evaluate the TNM stages classified by the symbolic rule-based system. The system was evaluated against a database of multidisciplinary team staging decisions and a machine learning-based text classification system using support vector machines. RESULTS: Overall accuracy on a corpus of pathology reports for 718 lung cancer patients against a database of pathological TNM staging decisions were 72%, 78%, and 94% for T, N, and M staging, respectively. The system's performance was also comparable to support vector machine classification approaches. CONCLUSION: A system to classify lung TNM stages from free-text pathology reports was developed, and it was verified that the symbolic rule-based approach using SNOMED CT can be used for the extraction of key lung cancer characteristics from free-text reports. Future work will investigate the applicability of using the proposed methodology for extracting other cancer characteristics and types.