Bioinformatics Seminar
Time:
Venue: Na
25 July 2017
NaClinical bioinformatics - what does it really take to translate research into practise?
Natalie ThorneMelbourne Genomics
Melbourne Genomics Health Alliance has taken a collaborative ; patient-centred ; clinically-driven ; evidence-based and sustainable approach to delivering genomic testing. This year the Alliance has commenced implementing Victoria's new clinical system for genomics. A platform for bioinformatics analysis and a tool for variant curation will be among the first components to be implemented and used for accredited clinical genomic testing by diagnostic laboratories. Operating within this shared digital system however ; presents a challenge for laboratories to simultaneously coordinate with other diagnostic laboratories and hospitals ; whilst also supporting their own business requirements for accreditation and continual innovation.
At the heart of diagnostic innovation in genomics is the emerging field ofclinical 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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