Statistical Bioinformatics Seminar: Thorne -- Clinical bioinformatics - what does it really take to translate research into practise?

The aim of the statistical bioinformatics seminar is to provide a forum for people 
working within the broad area of computation and statistics and their application 
to various aspects of biology to present their work and showcase their ongoing 
projects. It is intended to foster the exchange of ideas and build potential 
collaborations across multiple disciplines.

The seminars will be held on Monday in Charles Perkins Centre Seminar Room 
(Level 3, large meeting room). The format of the talk is 30~45 minutes plus 
questions.

Monday Oct 16, 2017 (PLEASE NOTE: Special time of 2:00PM)

Speaker: Natalie Thorne (Melbourne Genomics)

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

Abstract: 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 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 the use of ’implementation science’ 
for translating research bioinformatics into clinical practice.