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Data Management & Privacy in a Rare
environment
Rémy Choquet & Paul LandaisBNDMR, Paris & Montpellier, France
eHGI Workshop, 12/03/2014, Brussels
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The RD landscape Rarity of affections
A rare disease affects less than 1 in 2000 citizens There are more than 7000 rare diseases described in the
actual literature (source : Orphanet)
65% of RD are invalidating But many people
In Europe, 30 million people are affected by a rare disease (source : EURORDIS / current estimation)
Rarity of experts Expertise of rare diseases is also rare but networks are
being organized at national and European level (source : http://ec.europa.eu/health/rare_diseases/european_reference_networks/erf/index_en.htm#fragment2)
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Complex care activity involving « research »
Genetic diseases : the clinical genetics dept. @ Necker Hospital 80% of RD have genetic origins Children based population (consent issues : fœtus cases,
child to adult consent evolution) 1/3 of diagnostics are disease groups 42% are not confirmed
Inborn errors of metabolism @ Lille Hospital Tele-expertise on fœtus represents half the activity Many group of experts staffs
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Number of cases
Non precise diseases are often associated with phenotypes or clinical signs for case based similarities
The diagnostic is a continuum that depends on new biological confirmation techniques
13
15
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Diagnosis delay
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Objective driven French legal framework
Epidemiology Care Research
Interoperability of systems and data
RegistriesElectronic
Health Record
Case Report Forms
Public HealthEpidemiology
Clinical trialsCohorts
Patients support of care
Source: BaMaRa 2013
Objectives
Systems
Domains
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The French RD network
131 RD centers of expertise 501 RD centers of competence 26 university hospitals
54 laboratories for molecular diagnosis
Biological resources centers
Ongoing research programs: 49 NRA ; 158 PHRC (hospital research
program); 227 clinical trials (106 academic, 121 industrial)
Integrated care and research network
RDCE4
RDCE3
RDCE2
RDCE1
RDCE8
RDCE7
RDCE6
RDCE5
RDCE n+1
RDCE n
RDCE10
RDCE9
RDCE131
RDCE130
RDCE129
RDCE128
Sectors(RD)
I
II
III
n
….
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Organisation des s
oins
Hôpital
Pôle
Service
UG
Hôpital
Pôle
Service
UG
GMR 2
CR
CC
CCCC
CC
CC
CC
CRCR
CR
GMR 1
CC
CR
CC
CC
CC
CC
CR
CR
CC
Security and dataconfidentiality
Interoperability
Multi-layered networks
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How does the network work?
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How does the network work?
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But networks needs communication tools to operate
No national patient records No interoperability between hospital, hospital and city,
diagnosis laboratories No interoperability between care and research nor
epidemiology Existing EHR do not embed necessary information items
to capture RD diagnosing specificity over time
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What better care could mean to RD patients ?
Having a diagnosis made through the right expertise (local or international)
A treatment for the RD or symptoms, but not enough patients for clinical research at national level
Lifelong affections, medico-social impact, general practice / hospital link
Traveling patients Emergency situations : what to do or not?
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Congenital Nephrogenic Diabetes Insipidus (source Orphanet)
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Physical card initiative for RD patients
A physical patient ID card initiative was raised by patient groups but : Healthcare information change A card is personal and has sensitive medical data clearly
written on it Medical recommendations cannot fit into a credit card
format Yet, are they legally compatible across EU countries?
A patient ID that can link to an information server would be more useful but current regulations do not seem compatible.
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More and more international registries driven by patient groups
Less than 1 over 4 000 000 people affected
A crucial need to build global registries
US based patient registries are numerous
Less than 10 cases in France, how to protect patients privacy ?
Do they want protection over care ?
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What are we missing ?
A European minimum set of information that can travel with the patient for basic care and emergency care (such as epSOS did)
An identification system for RD patients to accelerate patient identification for care, emergency care and research
Access mechanisms to care RD data for European care facilities
A legal framework that do not necessary separate research and care activities as today
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A National data bank for rare diseases (BNDMR)dedicated to the centres of expertise
The French Data Repository for RD
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BNDMR : objectives
Objectives: Describe the demand for care Describe the offer of care Assess the adequacy of the supply to the demand Identify potentially eligible patients for clinical trials or
cohorts
Means: Implement a national database Supporting a minimum data set Set up an interoperability framework
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Objectives
Systems
Interoperability
Domains
Infrastructures
BNDMR : National Data Bank for Rare Diseases; BaMaRa: Rare Diseases Database; EHR: Electronic Health Record; MDS : Minimum Data Set ; RaDiCo : Rare Disease Cohorts; SNIIRAM : Information system of the Health Care Insurance; PMSI : Activity based Payment Information System; SAE : Hospitals Annual Statistics ; DRESS : Direction for research, studies, evaluation and statistics of the Ministry of Health; INSEE : National Institute for statistics and economic studies. Source : Landais P, Choquet R, BaMaRa 2014
Epidemiology Care Research
BNDMRMDS
(BaMaRa)
RaDiCo
pseudonymisation
BNDMR, PNMR2, DGOS
Plan Hôpital Numérique, DGOS,DGS,ARS
RaDiCo, investments for thefuture, INSERM, ANR
Interoperability framework
Interoperability of systems and data
Patient selection
Difficult to cope with reality
Public HealthEpidemiology
Clinical trialsCohorts
Patients support of care
Registries Clinical Trials
EHR
EHR
Registries
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From care to research…BaMaRa RaDiCo
Data: Minimum data set
All the patientsAll the diseases
Data:Extensive longitudinal follow-up (Phenomics)
Subgroups of patients
t0 t1 t2 t3 t4 t5 t6
t0 t1 t2 t3 t4 t5 t6
t0 t1 t2 t3 t4
t0 t1 t2 t3 t4 t5 t6
t0 t1 t2 t3 t4 t5
Care Research
RDCE4
RDCE3
RDCE2
RDCE1
RDCE8
RDCE7
RDCE6
RDCE5
RDCE n+1
RDCE n
RDCE10
RDCE9
RDCE131
RDCE130
RDCE129
RDCE128
Sectors(RD)
I
II
Pu
lmon
ary
RD
n
….
Withincare
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An interoperability framework for RD
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Conclusion
Patients are rare per disease but numerous and willing to share their data
Care and research are interlinked in hospital settings Lifetime diseases Few experts across Europe for very rare diseases Diagnosing RD is an continuous effort that evolves with knowledge We need tools at European level (at least):
Patient identification (they are rare!) Continuous care or emergency care access to patient RD data Minimal dataset to identify patient’s diseases for emergency care,
care and research eligibility Juridical framework that takes into account RD activities (care
+ research) into national then European reference networks