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

Melbourne Genomics

Kate Birch Data & Technology Program Manager

Data and technology to support and enable genomics

Melbourne Genomics Health Alliance

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Melbourne Genomics Health Alliance 3

Objectives

Melbourne Genomics Health Alliance 4

Genomics is of real benefit to Victorians Excellence in genomics A shared system Victoria is the place for genomics in healthcare

Approach

Melbourne Genomics Health Alliance 5

Evaluate the place of genomics in health care practice, by: (1) evaluating the process and outcomes of genomic tests in practice, and (2) establishing and applying a platform for health service research, program evaluation, economic evaluation and translational research in the use of genomics in health care. . Establish active relationships and participation in national and international initiatives with the aim

• f disseminating, communicating and

collaborating on the work of the Alliance and its implications. STREAM 5: NATIONAL AND INTERNATIONAL IMPACT STREAM 3: INNOVATION AND RAPID ADOPTION Develop and deploy systems to ensure patients have access to cutting-edge, high quality genomic testing that is cost-effective. STREAM 1: WORKFORCE DEVELOPMENT Build the literacy, skills and confidence of the clinical and diagnostic workforce in genomics, as relevant to each professional role STREAM 4: 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.

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DISEASE FLAGSHIPS Flagships are the mechanism through which genomic sequencing is provided to patients with defined clinical conditions or indications. Flagships will also be the means by which the workforce is developed, innovation is adopted,

• utcomes are evaluated and information systems

trialled, and underpin the five streams. STREAM 2: ASSESSING THE VALUE OF GENOMICS

Access to Genomic Information

Melbourne Genomics Health Alliance 6

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.

The genomics journey

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

Benefits and KPIs

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40% 45% 15%

Minimise cost and waste in administering healthcare Improve patient and family

• utcomes

Accelerate research and translation into patient care

Key Performance Indicators (KPIs)

Increase curation speed Reduce the number of manual processes Reduce the duplication of patient data (double-handling) Increase ease of access to information for clinicians and patients on genomics testing and results interpretation Increase availability of genomic information for future research

Melbourne Genomics Health Alliance

Innovation & Adoption

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Dr Natalie Thorne

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

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14 Melbourne Genomics Health Alliance

GenoVic

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• 8. Clinical Tools
• 13. Genomic Data Repository
• 14. Data Integration
• 5. Staff to

manage the data

People Policy & Process Technology

• 1. Standardised policy and

processes for data management & access (data governance)

• 11. Data Access Tools
• 12. Master

Patient Index

• 7. Identity & Access Management
• 2. Standardised

policy & processes for patient consent Electronic Orders and Results EMR (clinical data) LIMS (genomic sequencing data) Clinician Knowledge Clinical Decision Support Tools

• 9. Diagnostic Tools

Curation Tools Analysis (Pipeline) Tools

• 10. Patient Tools

Education Consent Results

• 6. Staff to

manage the technology

• 3. Standardised policy and

processes for test ordering & reporting

• 4. Change control process

Public variant curation data

Melbourne Genomics Health Alliance

Release schedule

16 Melbourne Genomics Health Alliance

Melbourne as a pilot site…

Data governance Information models Integration specifications

17 Melbourne Genomics Health Alliance

Data & Technology Team

Melbourne Genomics Health Alliance 18

Melbourne Genomics – 2013-2015

Melbourne Genomics Health Alliance | Document Name Here 19

CEOs/Leadership

Gareth Goodier (RMH) Christine Kilpatrick (RCH) Stephen Smith (University of Melbourne) Doug Hilton (WEHI) Kathryn North (MCRI) Lynne Cobiac (CSIRO) Sue Forrest (AGRF)

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Steering Group

James Angus (Chair) Julian Clark Sue Forrest Clara Gaff (Exec Director) Trevor Lockett / David Hansen Andrew Sinclair Mike South Paul Waring / Jon Emery Ingrid Winship

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Advisory Groups

Information Management Advisory David Hansen (Chair) Terry Brennan Ken Doig Rowan Gronlund Andrew Lonie Fernando Martin-Sanchez Wayne Mather Emeline Ramos Brenda White Community Advisory Ingrid Winship (Chair) Louisa Di Pietro Heather Renton Margaret Sahhar Janney Wale Christine Walker Liat Watson Clinical Interpretation & Reporting Advisory Paul James (Chair) Damien Bruno Paul Ekert Monique Ryan Charlotte Slade Alison Trainer Genomics & Bioinformatics Advisory Graham Taylor / Alicia Oshlack (Chair) Melanie Bahlo Denis Bauer Paul James Andrew Lonie Simon Sadedin Kirby Siemering Data Access Advisory Yousef Kowsar Kurt Lackovic Steven Manos Candice McGregor Owen O’Neill Gayle Philip Bernie Pope Melissa Southey Advanced Users Group

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Flagships

AML Andrew Roberts Ian Majewski Seong Lin Khaw Francoise Merchinaud Edward Chew CMT Monique Ryan Paul James Tim Day Lynette Kiers Adrienne Sexton CRC Alex Boussioutas Finlay Macrae Alison Trainer Ingrid Winship Michael Bogwitz CS Sue White Zornitza Stark Tiong Tan Paul Ekert Christiane Theda David Amor Maie Walsh Patrick Yap Epilepsy Patrick Kwan Terry O’Brien Ingrid Scheffer Piero Perucca Paul James

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Laboratories

CTP Paul Waring Graham Taylor Tiffany Cowie Sebastian Lunke Renata Marquis-Nicholson Greg Corboy Michael Christie Arthur Hsu VCGS Graham Taylor Damien Bruno Steven Nasioulas Belinda Chong Shannon Cowie Melanie Smith Clare Love Chris Guest AGRF Sue Forrest Kirby Siemering Melanie O’Keefe Matthew Tinning Lavinia Gordon Rust Turakulov Stephen Wilcox

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Information Systems

CPIPE / MG LOVD VLSCI Andrew Lonie Simon Sadedin John-Paul Plazzer Charlotte Anderson Anthony Marty Peter Georgeson Denis Bauer Harriet Dashnow Guido Grazioli Richard Sinnott Glenn Tesla Clare Sloggett Clinical Systems - MCRI & REDCAP Jane Halliday Susan Donath Leanne Mills Ross Dunn Luke Stephens BIOGRID Maureen Turner Leon Heffer Alice Johnstone

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Working Groups

Patient-entered data tool Patient survey Research access Education symposium Evaluation Information requirements Reporting Database users Pipeline platform

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Project Team

Clara Gaff (Exec Director) Tim Bakker (Info Mgmt) Michele Cook (Admin) Ivan Macciocca (Clinical) Karen Meehan (Comms) Natalie Thorne (Bioinf) Evaluation Team Emily Forbes Melissa Martyn Nessie Mupfeki Bill Wilson Genetic Counsellors Gemma Brett Emma Creed Ella Wilkins Health Economics Khurshid Alam Deborah Schofield Rupendra Shrestha

Melbourne Genomics – 2016-2019

Melbourne Genomics Health Alliance | Document Name Here 20

Alliance Board

Catherine Walter (Chair) Christine Kilpatrick (RMH) Andrew Stripp (Monash Health) Dale Fisher (PeterMac) Christine Kilpatrick (RCH) Shitij Kapur (UoM) Doug Hilton (WEHI) Kathryn North (MCRI) Rob Grenfell (CSIRO) Irene Kourtis (AGRF) Sue Shilbury (Austin Health) Anna Burgess (DHHS observer)

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Executive Management Committee

Clara Gaff (Chair) David Hansen Andrew Sinclair Richard King Julian Clark Felicity Topp Fergus Kerr Peter McDougall Ingrid Winship Sean Grimmond Kirby Siemering Paul Fennessy (DHHS observer)

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Advisory Groups

Clinical Adoption Advisory Fergus Kerr (Chair) Cate Kelly Sylvia Metcalfe Don Campbell Lindsay Grayson Margaret Kelaher Noel Cranswick Jayesh Desai Community Advisory Jane Bell (Chair) Louisa Di Pietro Heather Renton Margaret Sahhar Janney Wale Christine Walker Liat Watson Diagnostic Advisory Richard King (Chair) Kirby Siemering Sebastian Lunke Melanie O’Keefe Vivien Vasic Michael Christie Andrew Fellowes Suzanne Svobodova Tony Papenfuss Simon Sadedin Paul James Information Management Advisory/GenoVic Project Control Group David Hansen (Chair) Wayne Mather Rowan Gronlund Kevin Ericksen Tony Papenfuss Michael Carolan Erminia Schiavone Kris Jenkins Mike South Angela Watt Andrew Lonie Clara Gaff Malcolm Smart

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Flagships 2016-2018

Congenital Deafness David Amor Lilian Downie Valerie Sung Libby Smith Bibi Gerner Matthew Hunter Kerryn Saunders Natasha Brown Melissa Wake Rachel Burt Jane Halliday Zeffie Poulakis Elizabeth Rose Complex Care in Children Sue White Zornitza Stark Tiong Tan Alison Yeung Matthew Hunter Katrina Harris Dilated Cardiomyopathy Paul James Jay Ramchand Matthew Wallis David Hare Omar Farouque Immunology Jo Douglass Charlotte Slade Vanessa Bryant Jo Smart Sara Barnes Seth Masters Mimi Tang Ingrid Winship Zornitza Stark Lymphoma Stephen Opat Miles Prince Gareth Gregory Michael Dickinson Eliza Hawkes Piers Blombery Solid Cancers Jayesh Desai Kortnye Smith Sophie Beck Dong Anh Khuong Quong Hui Gan Paul Eckert Ben Solomon Ben Markman

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Flagships 2017-2019

Bone marrow failure Piers Blombery David Ritchie Francoise Mechinaud Anthea Greeway Andrew Grigg Erica Wood Paddy Barbaro Controlling Superbugs Lindsay Grayson Ben Howden Norelle Sherry Jason Kwong Tony Korman Caroline Marshall Mark Chan Monica Slavin Marcel Leroi Complex neurological Patrick Kwan Sam Berkovic Martin Delatycki Dennis Velakoulis Michael Fahey Melanie Bahlo Rick Leventer Amy Schneider Genetic kidney disease Catherine Quinlan Sue White Zornitza Stark Ella Wilkins Mathew Wallis David Power Kathy Nicholls Peter Kerr Perinatal autopsy George McGillivray Jacqueline Collett Ian Simpson Trishe Leong Jan Pyman Alison Yeung Natasha Brown Sue White Sue Walker

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Laboratories

CTP Paul Waring Graham Taylor Tiffany Cowie Sebastian Lunke Renata Marquis-Nicholson Greg Corboy Michael Christie Arthur Hsu VCGS Graham Taylor Damien Bruno Steven Nasioulas Belinda Chong Shannon Cowie Melanie Smith Clare Love Chris Guest AGRF Sue Forrest Kirby Siemering Melanie O’Keefe Matthew Tinning Lavinia Gordon Rust Turakulov Stephen Wilcox

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Information Systems

CPIPE / MG LOVD VLSCI Andrew Lonie Simon Sadedin John-Paul Plazzer Charlotte Anderson Anthony Marty Peter Georgeson Michael Milton Juny Kesumadewi Gayle Philips Denis Bauer Harriet Dashnow Guido Grazioli Richard Sinnott Glenn Tesla Clare Sloggett Clinical Systems - MCRI & REDCAP Jane Halliday Susan Donath Leanne Mills Ross Dunn Luke Stephens BIOGRID Maureen Turner Leon Heffer Alice Johnstone

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Working Groups

Patient-entered data tool Patient survey Research access Education symposium Evaluation Information requirements Reporting Database users Pipeline platform Curation tool pilot evaluators Curation tool RFQ evaluators Analysis tool user group Curation tool user group Information architecture reference group

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Genetic Counsellors Gemma Brett Emma Creed Anna Jarmolowicz Ivan Macciocca Ellie Prawer Giulia Valente Kirsty West Health Economics Khurshid Alam Deborah Schofield Rupendra Shrestha

Melbourne Genomics Health Alliance Program Team

Thank you