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

CENTRE FOR

COMPARATIVE GENOMICS

Western Australia 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

• 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

Why Registries

Patient Clinician

Symptoms Tests Results

IN

Genetic Testing/Phenotypin g Patient Clinician

Therapies Monitoring

TREATMENT

General Practioner

Disease Registries

• National
• Regional/State
• Patient Advocates

Information

• Consent
• Diagnosis
• Treatments

Clinical Validation

International Disease Registries

IDR 1 IDR 2 IDR n

…

Pharmaceutical Industry

• Drug design
• Clinical Trials

BioBanks

Samples Consent ID/Barcode

• omics Platforms

Genomics Proteomics Metabolomics Samples IDs Raw data store Data IDs

Translational Units (NGO/NFP/NIH) with Technology/Platform Industries

Data IDs Processed data store

Supercomputer Infrastructure

Analysis IDs Cohort Studies Natural Histories Candidate Genes

Population Wide Analytical Workflow Environment

• Clinical Trials
• Populations Studies
• Disease gene R&D

Personalised Medicine Analytical Workflow Environment

• Genomics
• Proteomics
• Metabolomic
• Systems Biology

Patient

Analytic Validation Genotype/P henotype

eHealth Records Regulatory Bodies

• Regulatory

framework

• Decision-making

framework

• Bioethics
• Training

Clinical Utility Clinical Validation

Patient Clinician

Therapies Monitoring

TREATMENT

General Practioner Patient Clinician

Symptoms Tests Results

IN

Genetic Testing/Phenotypin g

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

• utcomes paradigm. N Engl J Med 2012; 366: 777-9.

http://www.infogineering.net/data-information-knowledge.htm

• Data can directly inform knowledge
• Data can be collected and become information, which

in turn facilitates knowledge Data vs Information vs Knowledge => Clinical decisions

What is a Registry?

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 Forms … Sections … Form 1 Forms Form 2

Section 1

Sections

Section 2

Sections

Section 3

…

DEs

DE2 DE3 DE1 DE4 DE5 DE6 DE7 DE8

…

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 GUI modules Pattern validation Constraints

Gaucher Registry – Patient-centric

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

Patient Questionnaires are exposed on a public URL:https://rdrf.ccgapps.com.au/gaucher/GR/questionnaire/

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)

Registry Forms … Sections … Form 1 Forms Form 2

Section 1

Sections

Section 2

Sections

Section 3

…

DE Bank

DE2 DE3 DE1 DE4 DE5 DE6 DE7 DE8

…

PVG Bank

PVG1 PVG2 PVG3 PVG4 PVG5 PVG6 PVG7

Contact Registry Recruitment Survey Clinical Trial

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

• Adam Hunter
• Lee Render
• Maciej Radochonski
• Kathryn Napier
• Steve Wilton
• Sue Fletcher
• Steve Wilton
• Alan Bittles
• Nik Zepps (SJoG)
• Dept. Health, WA

OPHG Team

• Hugh Dawkins
• Caroline Graham
• Lamont Lamont
• Tarun Weeramanthri
• Jack Goldblatt
• Mark Everard

ORDR, NIH

• Stephen Groft
• Yaffa Rubinstein

RD Connect Partners EU Collaborators Especially

• Hanns Lochmüller
• Christophe Béroud
• Ivo Gut
• David Salgado
• Oksana Pogoryelova
• Libby Wood

Rare Voices Australia

• Megan Fookes
• Lesley Murphy
• Rebecca Novacek

Shire Australia

• Cameron Milliner

DART

• R. S. Anand