Melbourne Genomics Establishing data governance in clinical genomics

Ian Pham Data Governance Lead Genomics Health Alliance 1 Melbourne Genomics Health Alliance 3 Focused on implementing genomics in practice

Discovery Translational Implementation Routine Practice Research Research

Research Institutes and Universities Australian Genomics Health Alliance Melbourne Genomics Health Alliance Clinical Genetics Services and Hospitals

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. Build the literacy, skills and STREAM 5: NATIONAL AND confidence of the clinical and INTERNATIONAL IMPACT diagnostic workforce in genomics, as relevant to each Establish active relationships and participation in professional role national and international initiatives with the aim 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. . . This stream will be the focus of the workshop.

Melbourne Genomics Health Alliance 5 Flagships

2014-2015 2016-2018 2017-2019 AML Complex care Controlling superbugs Childhood syndromes Congenital deafness Bone marrow failure Focal epilepsy Dilated cardiomyopathy Complex neurological and Hereditary colorectal Immunology neurodegenerative diseases cancer Advanced solid cancers Genetic kidney disease Hereditary neuropathy Advanced lymphoma Perinatal autopsy (non-Hodgkin)

Melbourne Genomics Health Alliance Outcomes to date

465 patients tested (and growing) Prototype systems used in NATA labs Patient data available to all members Evidence of cost-effectiveness for MSAC application $25M funding from NHMRC for AGHA led from Victoria 4 peer-reviewed publications, plus 6 under review International collaborations Presentations at major conferences in Europe, North America, Asia,

Melbourne Genomics Health Alliance | IMG meeting slides – 12 December 2016 7 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 8 Melbourne Genomics Health Alliance 9 GenoVic

Policy & Process People Technology

7. Identity & Access Management 1. Standardised policy and processes for data 8. Clinical Tools 9. Diagnostic Tools 10. Patient Tools 5. Staff to management & access Electronic manage the Clinician (data governance) Orders and Analysis Consent data Knowledge Results (Pipeline) Tools Results Clinical Decision Support Curation Tools Tools Education 2. Standardised policy & processes for patient consent 6. Staff to 11. Data Access Tools 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 10 Data Governance Vision

‘We will support improvement in patient outcomes and disease prevention for Victorians through secure, ethical use and sharing of reliable genomic information.’

Melbourne Genomics Health Alliance 12 Principles

We all respect the rights of the patient and work collaboratively for better health outcomes through ensuring information is: • Secure • Used to its full extent • Fit-for-purpose • Valued

Melbourne Genomics Health Alliance 13 Data Governance Framework

Melbourne Genomics Health Alliance 14 Data Governance Framework – Implementation Plan

Pre-implementation GenoVic implementation

Foundation Release 1

• Data Governance Framework • Appointment of Data Release 2 Custodian/ Owner / Steward • Change Management • Data Sharing Agreement • Communications • Data Access Policy • Information Asset Register Release 3 • Information Architecture • Data Security Policy • Information Asset Register Procedures Reference Group • Priority data sets • Information Architecture • New data sets • Roles and responsibilities • Data classification Procedures • Accountability • Information Model • Expand metadata • Maturity Assessment • Accountability • Measurement • Data Quality Baseline • Measurement • Procedures • Data Quality Plan • Procedures • Data Quality Assessment

Change Management

Operationalise

15 Work to date Melbourne Genomics Health Alliance 17 Data Governance Roles and Responsibilities

DATA GOVERNANCE OWNER: The CEO (or similar) for the Alliance Member Organisation has authority and accountability.

Delegates to Is accountable to

DATA GOVERNANCE STEWARD, an Executive with responsibility with the organisation that has delegated authority.

Delegates to Is accountable to PROJECT CONTROL GROUP: Provides leadership, oversight and decision making for the management of information. ALLIANCE DATA CUSTODIAN : Defines and embraces the rules for the resource on behalf of the data steward

Delegates to

Is accountable to Provides feedback to Provides strategic and and strategicdirection policy Provides

Alliance Data Governance Lead: Implements the rules on behalf of DATA USER: Provides requirements and feedback the custodian Follows the rules when using the resource

Melbourne Genomics Health Alliance 18 Information Architecture Reference Group

• Alliance SME input • Member participation • Decision maker for information architecture • Review/endorsement of project deliverables • Monthly meetings

Melbourne Genomics Health Alliance 19 Data Sharing Agreement • Supports strong ongoing collaboration

• Contractually defines roles and data management processes

• Ensures legal and ethical compliance

• Enacts policies and procedures

• Protects member IP and confidentiality

Melbourne Genomics Health Alliance 20 Security Risk Assessment

• Identify security risks

• Risk analysis and rating

• Risk treatment

• Security control prioritisation

Melbourne Genomics Health Alliance 21 What’s next? •Security Information implementation architecture

Data Data quality management framework (incl metadata)

Melbourne Genomics Health Alliance 23 Security implementation

• Security control implementation plan

• Information security policy, sub-policies and procedures

• Data access and release policy

• Data classification

Melbourne Genomics Health Alliance 24 Information Architecture

• Information architecture standards and principles

• Information asset register

• Information architecture standard operating procedures

• Information models

Melbourne Genomics Health Alliance 25 Data Quality Framework • Data quality framework and policy

• Data profiling assessment

• Data quality plans

• Baseline metrics

• Data quality Standard operating procedure

Melbourne Genomics Health Alliance 26 Data Management (includes metadata) • Data lifecycle requirements and framework

• Identify and prioritise datasets and metadata definitions

• Standard operating procedures

• Metadata policy and standards

• Training material developed and delivered

Melbourne Genomics Health Alliance 27 Data & Technology Team

Melbourne Genomics Health Alliance 28 Melbourne Genomics – 2013-2015 CEOs/Leadership Ingrid Winship (Chair) AML CTP 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 () 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 Monique Ryan Reporting Sue Forrest (AGRF) Clinical Interpretation Arthur Hsu Peter Georgeson Paul James Database users & Reporting Advisory Denis Bauer Tim Day VCGS Pipeline platform – Paul James (Chair) Harriet Dashnow Lynette Kiers Graham Taylor Damien Bruno Guido Grazioli Steering Group Adrienne Sexton Damien Bruno Paul Ekert Richard Sinnott James Angus (Chair) Steven Nasioulas – Monique Ryan CRC Glenn Tesla Julian Clark Belinda Chong Charlotte Slade Alex Boussioutas Clare Sloggett Project Team Sue Forrest Shannon Cowie Alison Trainer Finlay Macrae Clara Gaff (Exec Director) Melanie Smith Clinical Systems - MCRI & REDCAP Clara Gaff (Exec Director) Alison Trainer Trevor Lockett / David Hansen Genomics & Bioinformatics Advisory Clare Love Jane Halliday Tim Bakker (Info Mgmt) Ingrid Winship Andrew Sinclair Graham Taylor / Alicia Oshlack (Chair) Chris Guest Susan Donath Michele Cook (Admin) Michael Bogwitz Mike South Melanie Bahlo Leanne Mills Ivan Macciocca (Clinical) AGRF Karen Meehan (Comms) Paul Waring / Jon Emery Denis Bauer CS Ross Dunn Sue Forrest Ingrid Winship Paul James Luke Stephens Natalie Thorne (Bioinf) Sue White Kirby Siemering Andrew Lonie BIOGRID Zornitza Stark Melanie O’Keefe Evaluation Team – Simon Sadedin Tiong Tan Maureen Turner Matthew Tinning Emily Forbes Kirby Siemering Leon Heffer Paul Ekert Lavinia Gordon Melissa Martyn Advisory Groups Alice Johnstone Christiane Theda Rust Turakulov Nessie Mupfeki Data Access Advisory Information Management Advisory David Amor Stephen Wilcox Bill Wilson Yousef Kowsar David Hansen (Chair) Maie Walsh Kurt Lackovic Genetic Counsellors Terry Brennan Patrick Yap Steven Manos Gemma Brett Ken Doig Candice McGregor Epilepsy Emma Creed Rowan Gronlund Owen O’Neill Patrick Kwan Ella Wilkins Andrew Lonie Gayle Philip Terry O’Brien Fernando Martin-Sanchez Health Economics Bernie Pope Ingrid Scheffer Wayne Mather Khurshid Alam Melissa Southey Piero Perucca Emeline Ramos Deborah Schofield Advanced Users Group Paul James Brenda White Rupendra Shrestha – – Flagships – – Community Advisory Laboratories

Melbourne Genomics Health Alliance | Document Name Here 29 Melbourne Genomics – 2016-2019 Alliance Board Richard King (Chair) Paul James Caroline Marshall Michael Christie Kirby Siemering Jay Ramchand Mark Chan Arthur Hsu – Catherine Walter (Chair) Sebastian Lunke Matthew Wallis Monica Slavin Christine Kilpatrick (RMH) Melanie O’Keefe David Hare Marcel Leroi VCGS Working Groups Andrew Stripp (Monash Health) Vivien Vasic Omar Farouque Graham Taylor Patient-entered data tool Dale Fisher (PeterMac) Michael Christie Complex neurological Damien Bruno Patient survey Christine Kilpatrick (RCH) Andrew Fellowes Immunology Patrick Kwan Steven Nasioulas Research access Shitij Kapur (UoM) Suzanne Svobodova Jo Douglass Sam Berkovic Belinda Chong Education symposium Doug Hilton (WEHI) Tony Papenfuss Charlotte Slade Martin Delatycki Shannon Cowie Evaluation Kathryn North (MCRI) Simon Sadedin Vanessa Bryant Dennis Velakoulis Melanie Smith Information requirements Rob Grenfell (CSIRO) Paul James Jo Smart Michael Fahey Clare Love Reporting Irene Kourtis (AGRF) Sara Barnes Melanie Bahlo Chris Guest Database users Information Management Advisory/GenoVic Seth Masters Rick Leventer Pipeline platform Sue Shilbury (Austin Health) Project Control Group Anna Burgess (DHHS observer) Mimi Tang Amy Schneider AGRF Curation tool pilot evaluators David Hansen (Chair) Ingrid Winship Sue Forrest Curation tool RFQ evaluators – Wayne Mather Zornitza Stark Kirby Siemering Analysis tool user group Rowan Gronlund Genetic kidney disease Melanie O’Keefe Curation tool user group Executive Management Kevin Ericksen Lymphoma Catherine Quinlan Matthew Tinning Information architecture reference group Committee Tony Papenfuss Stephen Opat Sue White Lavinia Gordon Michael Carolan Miles Prince Zornitza Stark Rust Turakulov – Clara Gaff (Chair) Erminia Schiavone Gareth Gregory Ella Wilkins Stephen Wilcox David Hansen Kris Jenkins Michael Dickinson Mathew Wallis Genetic Counsellors Andrew Sinclair Mike South Eliza Hawkes David Power – Gemma Brett Richard King Angela Watt Piers Blombery Kathy Nicholls Emma Creed Julian Clark Andrew Lonie Peter Kerr Information Systems Anna Jarmolowicz Clara Gaff Solid Cancers Ivan Macciocca Felicity Topp CPIPE / MG LOVD VLSCI Fergus Kerr Malcolm Smart Jayesh Desai Perinatal autopsy Ellie Prawer Peter McDougall Kortnye Smith George McGillivray Andrew Lonie Giulia Valente Ingrid Winship – Sophie Beck Jacqueline Collett Simon Sadedin Kirsty West Sean Grimmond Dong Anh Khuong Quong Ian Simpson John-Paul Plazzer Kirby Siemering Flagships 2016-2018 Hui Gan Trishe Leong Charlotte Anderson Health Economics Anthony Marty Paul Fennessy (DHHS observer) Congenital Deafness Paul Eckert Jan Pyman Khurshid Alam Ben Solomon Alison Yeung Peter Georgeson Deborah Schofield David Amor – Ben Markman Natasha Brown Michael Milton Rupendra Shrestha Lilian Downie Sue White Juny Kesumadewi Valerie Sung Advisory Groups Sue Walker Gayle Philips Melbourne Genomics Health Libby Smith – Denis Bauer Alliance Program Team Clinical Adoption Advisory Bibi Gerner Harriet Dashnow Fergus Kerr (Chair) Matthew Hunter Flagships 2017-2019 Guido Grazioli Cate Kelly Kerryn Saunders Richard Sinnott Sylvia Metcalfe Natasha Brown Bone marrow failure Glenn Tesla Don Campbell Melissa Wake Piers Blombery Clare Sloggett Lindsay Grayson Rachel Burt David Ritchie Margaret Kelaher Jane Halliday Francoise Mechinaud Noel Cranswick Zeffie Poulakis Anthea Greeway Jayesh Desai Elizabeth Rose Andrew Grigg Erica Wood Complex Care in Children Community Advisory Paddy Barbaro Sue White Jane Bell (Chair) Zornitza Stark Clinical Systems - MCRI & REDCAP Louisa Di Pietro Tiong Tan Heather Renton – Jane Halliday Alison Yeung Susan Donath Margaret Sahhar Matthew Hunter Janney Wale Laboratories Leanne Mills Katrina Harris Ross Dunn Christine Walker CTP Liat Watson Luke Stephens Controlling Superbugs Paul Waring BIOGRID Lindsay Grayson Graham Taylor Maureen Turner Ben Howden Tiffany Cowie Leon Heffer Norelle Sherry Sebastian Lunke Alice Johnstone Jason Kwong Renata Marquis-Nicholson Diagnostic Advisory Dilated Cardiomyopathy Tony Korman Greg Corboy Melbourne Genomics Health Alliance | Document Name Here 30 Thank you