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!!
Rare diseases and cross border patient data access
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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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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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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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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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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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