Preparing for genomic medicine: a real world demonstration of health system change

Abstract

Organisations and governments seeking to implement genomics into clinical practice face numerous challenges across multiple, diverse aspects of the health care system. It is not sufficient to tackle any one aspect in isolation: to create a system that supports genomic medicine, they must be addressed simultaneously. The growing body of global knowledge can guide decision-making, but each jurisdiction or organisation needs a model for genomic (or personalised) medicine that is tailored to its unique context, its priorities and the funds available. Poor decisions could greatly reduce the benefits that could potentially arise from genomic medicine. Demonstration projects enable models to be tested, providing valuable evidence and experience for subsequent implementation. Here, we present the Melbourne Genomics Health Alliance demonstration project as an exemplar of a collaborative, holistic approach to phased implementation of genomics across multiple autonomous institutions. The approach and lessons learned may assist others in determining how best to integrate genomics into their healthcare system.

Fig. 1

Demonstration programme logic. This diagram summarises the programme logic model, that is the relationship between the demonstration project’s activities, its outputs and the intended outcomes

Fig. 2

Steps in the pathway for patient testing and use of the genomic data undertaken in the demonstration project

Fig. 3

Conceptual diagram of the Melbourne Genomics Health Alliance shared information management platform for future implementation. The core of the common genomic data management platform is the Genomic Data Repository—a central place to store genomic sequence data. The Clinical Tools, Diagnostic Tools and Patient Tools are shared by the Alliance members and integrate with their own systems including EMR and LIMS. Further detail is in Supplementary Material 1