care Matt Bellgard Director, CCG Research Affiliate, Western - PowerPoint PPT Presentation

HIC 2015 Brisbane 3-5 August A registry framework enabling patient-centred care care Matt Bellgard Director, CCG Research Affiliate, Western Australian Neuroscience Research Institute Research Fellow, NCGR, Santa Fe, NM, USA CENTRE FOR COMPARATIVE GENOMICS Western Australia

Why Registries • Empower RD patient communities • Recruitment, contact registry, clinical trials, post market and surveillance • Focus for personalized and therapeutic interventions – Interaction with orphan drug development • Support public health and clinical research – Data aggregation across geographic regions • RD diagnostic and management

IN Patient Symptoms Results Tests Clinician Genetic Testing/Phenotypin g TREATMENT Patient Therapies Monitoring Clinician General Practioner

Translational Units (NGO/NFP/NIH) - omics Platforms Genomics Data Samples Raw IDs Proteomics IDs data BioBanks store Metabolomics Samples with Technology/Platform Industries Consent Data ID/Barcode IN IDs Disease Cohort Patient Information Population Wide Studies • Consent Registries Analytical Workflow Natural Supercomputer Analysis Symptoms • Diagnosis Results Environment Infrastructure Histories • Tests National • Treatments • Clinical Trials • IDs Regional/State • • Candidate Populations Studies Clinician Patient Advocates Clinical Validation • Genes Disease gene R&D Genetic Genotype/P Testing/Phenotypin henotype g Personalised Medicine Processed Analytic Validation Analytical Workflow data store International Disease Registries Environment … • IDR 1 IDR 2 IDR n Genomics • Proteomics • Metabolomic TREATMENT • Systems Biology Patient Patient Pharmaceutical Industry Regulatory Bodies • Drug design • Regulatory Therapies Monitoring • Clinical Trials framework • Decision-making Clinical Clinical Clinician Validation Utility framework • Bioethics eHealth Records General Practioner • Training

Diagnosis/Treatment Challenge • “If diagnosis begins with standardized data collection , doctors bring clinical judgment to bear at the final stage of diagnosis” Lawrence and Lincoln Weed, 2011 • Health care reform – Patient-centred care is defined as care that is “respectful of and responsive to individual patient preferences, needs, and values, and ensuring that patient values guide all clinical decisions” Reuben et. al, Goal-oriented patient care — an alternative health outcomes paradigm. N Engl J Med 2012; 366: 777-9.

What is a Registry? Data vs Information vs Knowledge => Clinical decisions • Data can directly inform knowledge • Data can be collected and become information , which in turn facilitates knowledge http://www.infogineering.net/data-information-knowledge.htm

Registry Framework An essential new dimension

RDRF: Second Generation A highly dynamic web framework for the creation of disease registries with no extra software development RDRF Completely dynamic • Users can create • Complete registries – Define all the DEs that define a given registry – All from within the system without the need of software developers – Patients can be in more than one registry • A registry can be either contact, clinical, surveillance, disease- • specific Framework needs to cater for changing needs – Bellgard et al. Second Generation Registry Framework, SCFBM , 2014

https://rdrf.ccgapps.com.au/demo/

Registry structure Registry … Form 1 Forms Form 2 Forms … Section 1 Section 2 Section 3 Sections Sections Sections DEs … DE2 DE3 DE4 DE5 DE6 DE7 DE8 DE1 PVGs … PVG1 PVG2 PVG3 PVG4 PVG5 PVG6 PVG7

RDRF – Multiple registries

RDRF – Construction of registry

RDRF – Second Generation

RDRF – Data Elements Data types Instructions for users Constraints Pattern validation GUI modules

Gaucher Registry – Patient-centric Patient Questionnaires are exposed on a public URL: https://rdrf.ccgapps.com.au/gaucher/GR/questionnaire/ Patients are able to fill in and submit the questionnaire, which is then stored as a ‘questionnaire response’ and validated by a curator. This creates the patient record in the registry

Gaucher Registry Questionnaire validation Once logged in, the curator can validate questionnaire responses and view patients

Patient List

Patient Demographics Consent is fully configurable

Clinical Data

Genetic Data

Next steps

Registry Bank (definitions) Contact Registry Recruitment Registry Survey Clinical Trial … Form 1 Forms Form 2 Forms … Section 1 Section 2 Section 3 Sections Sections Sections DE Bank … DE2 DE3 DE4 DE5 DE6 DE7 DE8 DE1 PVG Bank … PVG1 PVG2 PVG3 PVG4 PVG5 PVG6 PVG7

Drag and drop DEs into Registries

Matchmaker/RDRF interaction

Summary • It is possible to currently share rare disease data – Significant advances are required to share data in a sophisticated way • Data elements specifications and registry definitions, structured data (ontologies) • Enable EHR interoperability • Clinical decision support, analytics, training and economics • Registry requirements evolve over time – Must enable patient centric care – Dynamic creation of registries at runtime • No requirement of software developer • Reusable components (DEs and DDEs) – For a new registry, survey, clinical study, and so forth • Registries support the patient journey – Capture knowledge – Seamlessly integrate RD patients into health system

Acknowledgements CCG Dept. Health, WA • Adam Hunter OPHG Team • • Lee Render Hugh Dawkins • • Maciej Radochonski Caroline Graham • • Kathryn Napier Lamont Lamont • • Steve Wilton Tarun Weeramanthri • • Sue Fletcher Jack Goldblatt • • Steve Wilton Mark Everard • Alan Bittles ORDR, NIH • Nik Zepps (SJoG) • Stephen Groft • Yaffa Rubinstein RD Connect Partners EU Collaborators Rare Voices Australia Especially • Megan Fookes • Hanns Lochmüller • Lesley Murphy • Christophe Béroud • Rebecca Novacek • Ivo Gut • Shire Australia David Salgado • • Cameron Milliner Oksana Pogoryelova DART • Libby Wood • R. S. Anand