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Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare
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Michael Legg - Pathology SIG - Laboratory Medicine and Informatics in Proactive and Personalised Healthcare

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Associate Professor Michael Legg, Consultant Health Informatician, Michael Legg & Associates and Chair, Informatics Advisory Committee, Royal College of Pathologists of Australasia, Conjoint Associate …

Associate Professor Michael Legg, Consultant Health Informatician, Michael Legg & Associates and Chair, Informatics Advisory Committee, Royal College of Pathologists of Australasia, Conjoint Associate Professor, School of Medical Sciences, University of New South Wales presented "Laboratory Medicine and Informatics in Proactive and Personalised Healthcare" at the National Pathology Forum 2013.

This annual conference provides a platform for the public and private sectors to come together and discuss all the latest issues affecting the pathology sector in Australia. For more information, please visit the conference website: http://www.informa.com.au/pathologyforum


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  • 1. Laboratory Medicine and Informatics in the Shift from Reactive to Proactive Healthcare Michael Legg - UNSW and Royal College of Pathologists of Australasia 14-15-Oct-2013 Informa National Pathology Fourm 2013 1
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  • 18. What is the role of informatics in PPPM? • Informatics is both an enabler and driver in PPPM. Advances abound in informatics and biological research but practical PPPM is in its infancy and there is a disconnect in most health systems – especially with their information systems • Although challenging enough, more is required than bridging bioinformatics and medical informatics – there is a need for high level planning and co-ordination of informatics for PPPM • The knowledge, work practices and informatics of laboratory medicine must be more engaged for PPPM to meet its potential – sensitivity, specificity and quality systems remain important • More standardisation of health information, knowledge and informatics is needed for discovery and for PPPM to be effective, efficient and safe • Education in informatics and more specialist informaticians are needed 14-15 October 2013 National Pathology Forum 18
  • 19. Informatics is central to proactive healthcare It is needed to: • Undertake the analysis of bio data, information and knowledge related to molecular medicine and its links to disease for discovery and service delivery • Gather and synthesise inputs from machines and people for optimal clinical decisions • Engage consumers and provide the information and tools they need to make decisions and change behaviours • Learn from what has happened at the individual, process and health system levels • Manage the information and knowledge that health workers need to make their jobs safer and easier • Facilitate standardisation and remove inappropriate variation 14-15 October 2013 National Pathology Forum 19
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  • 21. But we have some challenges • We don’t have a shared understanding even of what constitutes the domain of informatics in health or what to call its components • The domain of informatics used for recording, analysing, communicating and doing the business of healthcare I call health informatics • The domain of informatics used to unravel and understand the molecular and cellular workings of biology I call bioinformatics • In most places these domains are still operating in separate universes • After 50 years we are only just starting to realise health informatics and we have only just commenced integrating that with bioinformatics 14-15 October 2013 National Pathology Forum 21
  • 22. Biomedical informatics and personalised medicine In Europe the informatics gap between bench and bedside is being addressed by INBIOMEDvision through think-tanks and publications on the themes • • • • Genotype-phenotype integration Re-use of clinical information for research Translational systems biology and bioinformatics Horizontal aspects They call this work biomedical informatics 14-15 October 2013 National Pathology Forum 22
  • 23. Genotype-phenotype integration Trends • To develop validated repositories and standards • To develop specific tools and resources for proof of concept in areas like rare diseases to gain clinicians trust • To develop tools and resources based on genotype-phenotype associations for patient stratification in clinical trials 14-15 October 2013 National Pathology Forum 23
  • 24. Genotype-phenotype integration Challenges • Genotype-phenotype knowledge is large, complex, prone to errors, and has small effects and uncertain conclusions • Genotype-phenotype research data are not suitable for packaging and display for clinical application or training • Doctors are uninformed about the nature, limitations and potential of modern genotype-phenotype knowledge • Failure to discriminate between scenarios where molecular data can be ‘predictive’ as opposed to risk modifying 14-15 October 2013 National Pathology Forum 24
  • 25. Re-use of clinical information for research Trends • To propose few standards in the beginning and allow them to evolve pragmatically • To digitalise and standardise data capture to allow better quality and optimisation for sharing and re-use for research • To increase automation of data entry to facilitate clinicians and clinical communities work • To involve clinicians from different lines of work • To promote projects for capturing clinical data that might be used worldwide across regional and country boundaries and between hospital and community settings 14-15 October 2013 National Pathology Forum 25
  • 26. Re-use of clinical information for research Challenges • To unify and standardise items in the EHR • To determine the minimum data to include ensuring better quality of data entry or capture • To ensure better interoperability of IT • To incorporate new types of data (environmental, complete genomes etc) • To promote unification of regulations for EHR (legal, ethical, security confidentiality) • To study quality assurance especially in the analysis of retrospective clinical data 14-15 October 2013 National Pathology Forum 26
  • 27. Translational systems biology and bioinformatics Trends • To standardise methodologies • To standardise database formats • To apply crowd-sourcing and collaborative-competition in systems biology 14-15 October 2013 National Pathology Forum 27
  • 28. Translational systems biology and bioinformatics Challenges • To analyse high throughput studies (GWAS, PheWAS, EWAS) to obtain bioinformatics signatures in molecular diagnostics, prognostics, drug response and drug discovery • To establish reliable and reproducible computational models (molecular, cellular, organism, organ and population level) 14-15 October 2013 National Pathology Forum 28
  • 29. Horizontal aspects Trends • To develop standards • To retrieve and analyse data using data text mining and semantic tools • • • • To retrieve information from population-based data mining To use cloud computing To design training programs for clinicians To develop patient-oriented tools for data sharing and patient empowerment • To promote collaboration between communities (research/clinic/industry) 14-15 October 2013 National Pathology Forum 29
  • 30. Horizontal aspects Challenges • • • • • • • • • Data management and integration Data security User interfaces Socioeconomic challenges Openness and sharing of information Physician education and training Patient empowerment Industry-academy collaboration Intellectual property 14-15 October 2013 National Pathology Forum 30
  • 31. There is an elephant in the room 14-15 October 2013 National Pathology Forum 31
  • 32. We don’t have the standards, infrastructure or people • There are massive storage and analysis requirements - much more than generally recognised - the human pangenome at 1024 bytes is 1000 times all current world storage. As the number of sequenced genomes increases, storage capacity will become limiting • The current approach of diagnostic laboratories to genomic medicine is unsustainable • The healthcare related scientific community has too few informaticians and unfortunately many of those that we do have are without the breadth of understanding of the field to make the kind of advances that are needed. This is well illustrated by the existing gulf between health and bio-informaticians 14-15 October 2013 National Pathology Forum 32
  • 33. Informatics standards The only way forward is to agree what we will keep and how - but after more than 20 years of standards development work there is no widely accepted and adopted standards for: • Grammar to communicate health care information – despite progress with standards like HL7v2.x and CDA • Information structures – despite progress with models like HL7v3-RIM and OpenEHR • Terminology – despite progress with SNOMED, LOINC, HUGO and many others • Rules and knowledge – despite progress with Arden Syntax, GELLO and others 14-15 October 2013 National Pathology Forum 33
  • 34. In short… More than ten years after sequencing the human genome we do not have the knowledge, education or informatics tools to implement clinical genetics, genomics, proteomics, metabolomics or epigenetics into practical personalised medicine 14-15 October 2013 National Pathology Forum 34
  • 35. Science and innovation is the answer to the looming threat to sustainable healthcare 14-15 October 2013 National Pathology Forum 35
  • 36. What needs to happen… • Informatics for PPPM has to be seen as a discipline in its own right and be a research and education theme • Work on integrative informatics has to be done globally and that will require planning and engagement with the standards development organisations • Progress will require action based research using prototyping and agile development in a real-world provider network • Standardisation could start with existing registries and their feeds 14-15 October 2013 National Pathology Forum 36
  • 37. What are the benefits for patients and healthcare? • • Digitisation of biology and health – – – – will allow machines to help in discovery and delivery lead to a demystification of disease, the democratisation of healthcare and allow us to move from the treatment of disease to the promotion and maintenance of wellness Digital technology has disrupted other sectors – medicine is unlikely to remain immune from this 14-15 October 2013 National Pathology Forum 37

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