Accessing patient data in emergency situation is a key element to avoid unplanned care problems. Rare disease patients are suffering lifetime affections and have also rights to travel!!

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Data Management &
Privacy in a Rare
environment
Rémy Choquet & Paul Landais
BNDMR, 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/er
f/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
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3
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Diagnosis delay
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Objective driven French legal
framework
Epidemiology Care Research
Interoperability of systems and data
Registries
Electronic
Health
Record
Case Report
Forms
Public Health
Epidemiology
Clinical trials
Cohorts
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)
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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Security and data
confidentiality
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
BNDMR
MDS
(BaMaRa)
RaDiCo
pseudonymisation
BNDMR, PNMR2,
DGOS
Plan Hôpital Numérique,
DGOS,DGS,ARS
RaDiCo, investments for the
future, INSERM, ANR
Interoperability
framework
Interoperability of systems and data
Patient selection
Difficult to cope with reality
Public Health
Epidemiology
Clinical trials
Cohorts
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 patients
All 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
I
I
Pulmonary
RD
n
….
Within
care

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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
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