Register for: WIMSIG2017

Details of talk

TitleBioinformatics in the healthcare system
PresenterNatalie Thorne (Melbourne Genomics Health Alliance)
Author(s)Natalie Thorne
SessionBiostatistics and Bioinformatics
Time14:30:00 2017-09-25

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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