|Title||Bioinformatics in the healthcare system|
|Presenter||Natalie Thorne (Melbourne Genomics Health Alliance)|
|Session||Biostatistics and Bioinformatics|
Melbourne Genomics Health Alliance has taken a collaborative, patient-centred, clinically-driven, evidence-based and sustainable approach to delivering genomic testing in the healthcare system. This year the Alliance has commenced implementing Victoria’s new clinical system for genomics. A platform for bioinformatics analysis will be among the first components to be implemented and used for accredited clinical genomic testing by diagnostic laboratories. In other states, diagnostic systems are being implemented and efforts are underway to enable sharing of clinical grade genomic data nationally and internationally. Operating within these shared digital systems however, presents a challenge for laboratories to simultaneously coordinate with other diagnostic laboratories and hospitals (within and between state borders), whilst also supporting their own business requirements for accreditation and continual innovation. At the heart of diagnostic innovation in genomics is the emerging field of clinical bioinformatics; combining clinical, diagnostic, analytical, software and genetic aspects to implementing clinical genomic testing. The field has two key challenges: first, it is in its infancy and laboratories lack the support of a mature discipline; second, it demands skills and expertise predominantly lacking in traditional academia. These include developing enterprise-grade solutions, complex strategies for organisational change, multi-stakeholder collaboration, community engagement and rapidly evolving biotechnology. Drawing on my experiences working with the Melbourne Genomics and Australian Genomics Health Alliances, I will discuss the challenges and opportunities in clinical bioinformatics, including considerations for `translating' research bioinformatics into clinical practice.
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