Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

25 July 2017

Clinical bioinformatics - what does it really take to translate research into practise?

Natalie Thorne
Melbourne 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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