Implementing clinical genomic sharing, security and governance - - PowerPoint PPT Presentation

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Feb 20, 2023 325 likes •649 views

Implementing clinical genomic sharing, security and governance What is the patients' perspective? Kate Birch Data & Technology Program Manager @kate__birch Melbourne Genomics Health Alliance 2 Melbourne Genomics Health Alliance

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Implementing clinical genomic sharing, security and governance

Kate Birch Data & Technology Program Manager @kate__birch

What is the patients' perspective?

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Melbourne Genomics Health Alliance

SLIDE 3 Melbourne Genomics Health Alliance 3

Melbourne Genomics Health Alliance

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Approach

Melbourne Genomics Health Alliance 4 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. . 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

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Technology to enable clinical genomics

SLIDE 6 6 Melbourne Genomics Health Alliance

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a clinical system for genomics providing end-to- end modular cloud services for multiple laboratories

8. Clinical Tools
13. Genomic Data Repository
14. Data Integration
11. Data Access Tools
12. Master

Patient Index

7. Identity & Access Management

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 Public variant curation data Investigation

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Genomic data context

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SLIDE 13 Melbourne Genomics Health Alliance 13

SLIDE 14 Melbourne Genomics Health Alliance 14

SLIDE 15 Melbourne Genomics Health Alliance 15

SLIDE 16 Melbourne Genomics Health Alliance 16

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Patient perspectives

Melbourne Genomics Health Alliance | Document Name Here 17

SLIDE 18 Melbourne Genomics Health Alliance

Executive Director Alliance members

A/Prof Clara Gaff Penny Gleason Dr Christine Walker

Evaluation Team

Dr Melissa Martyn Dr Emily Forbes Anaita Kanga- Pariaba Nessie Mupfeki

Clinical team

Elly Lynch All the GCs who administered surveys Sophie Beck

GenoVic team

Principal funder

Research by…

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Melbourne Genomics patients

Real World Patients

1198 patients to date have had clinical testing after pre-test genetic counselling

Melbourne Genomics Health Alliance 19

Complex paediatric cases Congenital deafness Genetic kidney disease Immune deficiency Dilated cardiomyopathy Perinatal autopsy Complex neurological and neurodegenerative diseases Advanced solid cancers Advanced lymphoma (non-Hodgkins) Bone marrow failure

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Cohort characteristics

Melbourne Genomics Health Alliance | Document Name Here 20

Our cohort Victoria Median age 35 37 Gender F: 48% F: 51% Indigenous 1% 1% Born overseas 14% 28%

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Clinical consent for data sharing

No choice: ‘Anonymised’ data is shared Opt in: to share re-identifiable data

Melbourne Genomics Health Alliance

98% agree

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Results: Patient perspectives

Melbourne Genomics Health Alliance | Document Name Here 22

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Recall is high

Melbourne Genomics Health Alliance

Majority accurately recall their data sharing decision

~5% do not recall ~1% incorrect 94% correct

Majority understand anonymised data may be shared

~7% do not recall ~1% incorrect 92% correct

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Information about data sharing was satisfactory

Majority received enough information Most had no remaining concerns about data sharing

Melbourne Genomics Health Alliance

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Genomic Privacy

Melbourne Genomics Health Alliance

Ease of identification

Level of concern if identified How difficult do you think it would be for someone to be identified from their stored genome sequence?

How concerned would you be if someone identified you from your stored data?

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Genomic Privacy

Melbourne Genomics Health Alliance

easy I am concerned

Ease of identification

Level of concern if identified

difficult I am concerned difficult I’m not worried easy I’m not worried

Patients with suspected hereditary conditions significantly more likely to be concerned about being identified

Trend towards patients having panel testing to be less concerned

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Who can have access to identified data

Melbourne Genomics Health Alliance | Document Name Here 27

Identified Data % Will Share Data % Members of the Alliance ~80 96 The organisation managing the data Researchers @ Australian not for profits 77 Overseas not for profit 60 Pharma 54 Government ~30 43 Other industries 38

High trust Low trust

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Who can have access to deidentified data

Melbourne Genomics Health Alliance | Document Name Here 28

Identified Data % Deidentified Data % Members of the Alliance ~80 ~95 The organisation managing the data Researchers @ Australian not for profits Overseas not for profit Pharma Government ~30 ~40 Other industries

Would country influence decision? >50% said YES <30% said NO

I don't care about the country as long as it was being used in an ethical way and for research that would be beneficial ie not to discriminate against certain groups and not for eugenics etc

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No clear preference for

ne model of

consent

Melbourne Genomics Health Alliance

N=585 Control Permissiveness Ongoing use unless

pt out

Opt in each time Opt out each time Permanent reuse No permission

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Overall most are informed, accepting and permissive BUT

I only want to help cancer research. I don’t want to …be shared for any other purposes Cancer, agreed to share I strongly believe it is an invasion of my privacy and sensitive information Hereditary, agreed to share No concern with..medical professionals. Greatly concerned if shared more widely .e,g insurers, employers Cancer, agreed to share

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Melbourne Genomics – 2013-2015

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 Health Alliance

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Melbourne Genomics – 2016-2019

Melbourne Genomics Health Alliance 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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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