Global Alliance for Genomic Health strategic roadmap to more precise medicine

Led by our software expert Anthony Marty, Melbourne Bioinformatics’ role in the Australian Genomics Health Alliance has extended to providing a technical assessment of several well-developed, prototyped tools which enable sharing of curated genomic variant data. The preferred tool will be adopted across Australian pathology laboratories for use in research and clinical diagnoses. When known and carefully curated genomic variants indicative of clinical significance occur in conjunction with known disease/s, specific clinical information can be inferred and a more precise management of the disease applied. This might mean a different drug regimen or perhaps a more vigilant monitoring of a cancer. These new technologies are transforming our treatment of disease.

And as our understanding of the human genome slowly emerges from research laboratories, and bioinformaticians worldwide refine their analysis techniques, disagreement around the interpretation of this genetic information is still likely. So ensuring that within this process there is an in-built mechanism to resolve any classification conflicts is also a difficult part of this task.

Tools for precision medicine draw upon complex information in published and curated genomic databases being built as part of a global effort. Collaborating to avoid duplication is essential, and researchers and laboratories around the world, including our own, are engaged in this effort through the non-profit Global Alliance for Genomics and Health (GA4GH) who released their Strategic Roadmap in February 2018.

The Roadmap lists a series of projects laying the groundwork for this real-world genomic data sharing across the international genomic data community by 2022. Important frameworks and standards for the sharing of genomic and health-related data will enable this to be done responsibly, voluntarily, and securely.

The Australian Genomic Health Alliance features prominently in many of the key GA4GH projects, and through our engagement with them we are pleased to be playing a small part.

The GA4GH Strategic Roadmap presents standards and frameworks planned for development under GA4GH Connect — a 5 year Strategic Plan aimed at aligning with the key needs of the genomic data community. The Roadmap will be updated annually with new deliverables and timelines.