Melbourne Genomics Data and technology to support and enable - PowerPoint PPT Presentation

Melbourne Genomics Data and technology to support and enable genomics Kate Birch Data & Technology Program Manager

Melbourne Genomics Health Alliance 1

Melbourne Genomics Health Alliance 3

Objectives Genomics is of real benefit to Victorians Excellence in genomics A shared system Victoria is the place for genomics in healthcare Melbourne Genomics Health Alliance 4

Approach STREAM 3: INNOVATION AND RAPID ADOPTION Develop and deploy systems to ensure patients STREAM 1: have access to cutting-edge, high quality genomic WORKFORCE DEVELOPMENT testing that is cost-effective. STREAM 5: NATIONAL AND Build the literacy, skills and INTERNATIONAL IMPACT confidence of the clinical and diagnostic workforce in Establish active relationships and participation in genomics, as relevant to each national and international initiatives with the aim professional role of disseminating, communicating and collaborating on the work of the Alliance and its implications. DISEASE FLAGSHIPS Flagships are the mechanism through which genomic sequencing is provided to patients with defined clinical conditions or indications. STREAM 2: ASSESSING THE VALUE Flagships will also be the means by which the OF GENOMICS workforce is developed, innovation is adopted, outcomes are evaluated and information systems Evaluate the place of genomics in health care trialled, and underpin the five streams. practice, by: (1) evaluating the process and outcomes of genomic tests in practice, and STREAM 4: ACCESS TO GENOMIC INFORMATION (2) establishing and applying a platform for Develop and implement a single set of standards, policies health service research, program evaluation, and procedures to support a common infrastructure for the economic evaluation and translational research management and use of genomic data by stakeholders in in the use of genomics in health care. Victoria. . . Melbourne Genomics Health Alliance 5

Access to Genomic Information Develop and implement a single set of standards, policies and procedures to support a common infrastructure for the management and use of genomic data by stakeholders in Victoria. Melbourne Genomics Health Alliance 6

The genomics journey Pre-test care Data Automated Classification Clinical analysis & Reporting application Clinicians Sequencing Analysis Curation Clinicians Patients Patients 7

Benefits and KPIs 45% 40% 15% Minimise cost and waste in Accelerate research and Improve patient and family administering healthcare outcomes translation into patient care Key Performance Indicators (KPIs) Increase availability of genomic Increase curation speed Increase ease of access to information for future research information for clinicians and patients on genomics testing and results interpretation Reduce the number of manual processes Reduce the duplication of patient data (double-handling) Melbourne Genomics Health Alliance 8

Innovation & Adoption Dr Natalie Thorne 2

Start small, start safe Prototype systems; • Support the Clinical Flagships • Define Future Requirements • Establish the Alliance ways of working Melbourne Genomics Health Alliance 10

Start small, start safe Germline and somatic pipelines (Cpipe, Seqliner) Variant curation tool (LOVD+) Data Access and Release system Software development process (help desk, change requests, development prioritisation, progress) Governance and engagement: Diagnostic Advisory Group Software Development Team (including advanced users from Alliance members) Bioinformatics Reference Group Effective use of Working Groups and Workshops (process maps, scenarios) Melbourne Genomics Health Alliance 11

A Strong Foundation Ways of working Process driven decisions, ensure that change is managed, clear agreed scope Ensure deep collaboration , build relationships/trust, ensure benefit – prepare, prepare, prepare! Process based on project management principles (1. options paper 2. project brief 3. PID) Emphasis on building capability and knowledge together Evaluation mindset central to planning and implementation Melbourne Genomics Health Alliance 12

Data & Technology 3

Melbourne Genomics Health Alliance 14

GenoVic Technology People Policy & Process 7. Identity & Access Management 1. Standardised policy and 8. Clinical Tools 10. Patient Tools 9. Diagnostic Tools processes for data 5. Staff to management & access Electronic manage the Clinician Consent (data governance) Analysis Orders and data Knowledge (Pipeline) Tools Results Results Clinical Decision Support Curation Tools Education Tools 2. Standardised policy & processes for patient consent 11. Data Access Tools 6. Staff to manage the technology 12. Master 13. Genomic Data Repository 3. Standardised policy and Patient Index processes for test ordering & reporting 14. Data Integration LIMS 4. Change control process EMR Public variant (genomic (clinical data) curation data sequencing data) Melbourne Genomics Health Alliance 15

Release schedule Melbourne Genomics Health Alliance 16

Melbourne as a pilot site … Data governance Information models Integration specifications Melbourne Genomics Health Alliance 17

Data & Technology Team Melbourne Genomics Health Alliance 18

Melbourne Genomics – 2013-2015 AML CTP CEOs/Leadership Ingrid Winship (Chair) Information Systems Working Groups Louisa Di Pietro Andrew Roberts Paul Waring Patient-entered data tool Gareth Goodier (RMH) Heather Renton Ian Majewski Graham Taylor CPIPE / MG LOVD VLSCI Patient survey Christine Kilpatrick (RCH) Margaret Sahhar Seong Lin Khaw Tiffany Cowie Andrew Lonie Research access Stephen Smith (University of Melbourne) Janney Wale Francoise Merchinaud Sebastian Lunke Simon Sadedin Education symposium Doug Hilton (WEHI) Christine Walker Edward Chew Renata Marquis-Nicholson John-Paul Plazzer Evaluation Kathryn North (MCRI) Liat Watson Greg Corboy Charlotte Anderson CMT Information requirements Lynne Cobiac (CSIRO) Michael Christie Anthony Marty Reporting – Monique Ryan Sue Forrest (AGRF) Arthur Hsu Clinical Interpretation Peter Georgeson Database users Paul James & Reporting Advisory Denis Bauer Pipeline platform VCGS Tim Day Paul James (Chair) Harriet Dashnow – Lynette Kiers Graham Taylor Steering Group Damien Bruno Guido Grazioli Adrienne Sexton Damien Bruno Paul Ekert Richard Sinnott Steven Nasioulas James Angus (Chair) Monique Ryan Glenn Tesla CRC Project Team Belinda Chong Julian Clark Charlotte Slade Clare Sloggett Alex Boussioutas Shannon Cowie Sue Forrest Alison Trainer Finlay Macrae Clara Gaff (Exec Director) Melanie Smith Clinical Systems - MCRI & REDCAP Clara Gaff (Exec Director) Alison Trainer Tim Bakker (Info Mgmt) Genomics & Bioinformatics Advisory Clare Love Trevor Lockett / David Hansen Jane Halliday Ingrid Winship Michele Cook (Admin) Graham Taylor / Alicia Oshlack (Chair) Chris Guest Andrew Sinclair Susan Donath Michael Bogwitz Ivan Macciocca (Clinical) Mike South Melanie Bahlo Leanne Mills AGRF Karen Meehan (Comms) Denis Bauer Paul Waring / Jon Emery Ross Dunn CS Sue Forrest Natalie Thorne (Bioinf) – Ingrid Winship Paul James Luke Stephens Sue White Kirby Siemering Andrew Lonie BIOGRID Zornitza Stark Evaluation Team Melanie O’Keefe Simon Sadedin Maureen Turner Tiong Tan Emily Forbes Matthew Tinning Kirby Siemering Leon Heffer Advisory Groups Paul Ekert Melissa Martyn Lavinia Gordon Alice Johnstone Christiane Theda Nessie Mupfeki Rust Turakulov Data Access Advisory David Amor Bill Wilson Information Management Advisory Stephen Wilcox Yousef Kowsar Maie Walsh David Hansen (Chair) Genetic Counsellors Kurt Lackovic Patrick Yap Terry Brennan Gemma Brett Steven Manos Ken Doig Epilepsy Emma Creed Candice McGregor Rowan Gronlund Patrick Kwan Ella Wilkins Owen O’Neill Andrew Lonie Terry O’Brien Gayle Philip Fernando Martin-Sanchez Health Economics Ingrid Scheffer Bernie Pope Wayne Mather Khurshid Alam Piero Perucca Melissa Southey Emeline Ramos Deborah Schofield Paul James Advanced Users Group Brenda White Rupendra Shrestha – – – – Flagships Laboratories Community Advisory Melbourne Genomics Health Alliance | Document Name Here 19