Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Abstract

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.

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

“…Finally, our survey results, including the enthusiasm for genomics implementation by nephrologists in Australia, must be considered alongside the current implementation climate available to nephrologists who were surveyed. Over the last three years, more than AUD $125M (USD $87M) have been invested into supporting research and infrastructure to accelerate clinical genomics implementation through Australian Genomics, and state-funded genomics programs 10 . One of the research programs specifically focusses on determining the workforce training and education needs and evaluating genomic education interventions, while another is evaluating genomic testing in suspected monogenic renal disorders 40 .…”

“…To improve implementation within nephrology, multidisciplinary renal genetics clinics (RGC) have been established throughout the country (supplementary figure 1), driven through a national nephrology genetics collaborative, KidGen 6 . This has occurred in the context of substantial investments in state and government initiatives, such as Australian Genomics and Melbourne Genomics Health Alliances, aimed at accelerating the integration of genomics into mainstream healthcare 9,10 . These have facilitated large scale genomic testing in selected patient groups, including kidney disease There is a paucity of data surrounding nephrologists' practices relating to clinical genomic testing, with current evidence focussing on genetic predictors of chronic kidney disease (CKD) risk progression and pharmacogenomic testing in broad CKD populations, rather than those with suspected monogenic conditions 11,12 Furthermore, the readiness for implementation of genomics among the nephrology workforce is unknown.…”

Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning

“…Australian investment has been made in national research funding to provide evidence for the equitable, effective and sustainable integration of genomic medicine in healthcare through the Australian Genomics Health Alliance (Australian Genomics) (Long et al, 2019). Australian Genomics is a research partnership of clinicians, diagnostic geneticists and researchers from >80 organizations using a co-ordinated nationwide approach (Stark et al, 2019a). To inform the development and delivery of effective education and training in genomics across the broad health care system and adoption of genomics by numerous medical specialties the Australian Genomics Workforce & Education research program takes a whole-ofnation, "bottom up," research approach.…”

Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education

“…Therefore, there is little evidence available to inform the design and development of system-wide educational or training activities to support non-genetic medical specialists in acquiring the skills, confidence and competence they need to appropriately integrate genomic medicine into their clinical practice. The implementation of genomics in healthcare is being addressed at a national level in a number of countries (Stark et al, 2019a). For instance, in Australia the Federal Government has developed a National Genomics Health Policy Framework that identifies genomic literacy of health professionals as a national priority (Australian Government Department of Health, 2017).…”