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

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 Melbourne Genomics Health Alliance 3

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 4

Technology to enable clinical genomics 5

Melbourne Genomics Health Alliance 6

a clinical system for genomics providing end-to- end modular cloud services for multiple laboratories 7. Identity & Access Management 8. Clinical Tools 9. Diagnostic Tools 10. Patient Tools Electronic Clinician Analysis Consent Orders and Knowledge (Pipeline) Tools Results Results Clinical Decision Support Investigation Curation Tools Education Tools 11. Data Access Tools 12. Master 13. Genomic Data Repository Patient Index 14. Data Integration LIMS EMR Public variant (genomic (clinical data) curation data 7 sequencing data)

Genomic data context 8

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Melbourne Genomics Health Alliance 13

Melbourne Genomics Health Alliance 14

Melbourne Genomics Health Alliance 15

Melbourne Genomics Health Alliance 16

Patient perspectives Melbourne Genomics Health Alliance | Document Name Here 17

Research by… Principal funder 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 Melbourne Genomics Health Alliance

Melbourne Genomics patients Real World Patients 1198 patients to date have had clinical testing after pre-test genetic counselling 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 Melbourne Genomics Health Alliance 19

Cohort characteristics Our cohort Victoria Median age 35 37 Gender F: 48% F: 51% Indigenous 1% 1% Born overseas 14% 28% Melbourne Genomics Health Alliance | Document Name Here 20

Clinical consent for data sharing No choice : ‘Anonymised’ data is shared Opt in: to share re-identifiable data 98% agree Melbourne Genomics Health Alliance

Results: Patient perspectives Melbourne Genomics Health Alliance | Document Name Here 22

Recall is high Majority accurately recall their data sharing decision ? 94% ~1% incorrect ~5% do not recall correct Majority understand anonymised data may be shared ? 92% ~1% incorrect ~7% do not recall correct Melbourne Genomics Health Alliance

Information about data sharing was satisfactory Majority received enough information Most had no remaining concerns about data sharing Melbourne Genomics Health Alliance

Genomic Privacy How difficult do you think it would be for someone to be identified from their stored Ease of identification genome sequence? & & Level of concern if How concerned would you be if someone identified identified you from your stored data? Melbourne Genomics Health Alliance

Genomic Privacy easy difficult difficult easy Patients with suspected hereditary conditions significantly more likely Ease of identification to be concerned about being identified & I’m not I’m not I am I am Level of concern if Trend towards patients having panel testing to be less concerned concerned concerned worried worried identified   Melbourne Genomics Health Alliance

Who can have access to identified data Identified Data Will Share Data % % Members of the Alliance ~80 96 High trust The organisation managing the data Researchers Australian not for profits 77 Overseas not for profit 60 Pharma 54 @ Government ~30 43 Other industries 38 Low trust Melbourne Genomics Health Alliance | Document Name Here 27

Who can have access to deidentified data Identified Data Deidentified Data % % Members of the Alliance ~80 ~95 I don't care about the The organisation managing the data country as long as it was Would country influence decision? being used in an ethical Researchers Australian not for profits way and for research that >50% said YES would be beneficial ie not to Overseas not for profit discriminate against certain <30% said NO groups and not for eugenics Pharma @ etc Government ~30 ~40 Other industries Melbourne Genomics Health Alliance | Document Name Here 28

No permission Opt in each time No clear preference for Control Opt out each time one model of Ongoing use unless consent opt out Permanent reuse N=585 Permissiveness Melbourne Genomics Health Alliance

Overall most are informed, accepting and permissive BUT No concern with..medical professionals. Greatly concerned if shared more widely .e,g insurers, I only want to help employers cancer research. I don’t Cancer, agreed to share 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 30