bndmr.fr bndmr.fr
Data Management &
Privacy in a Rare
environment
Rémy Choquet & Paul Landais
BNDMR, Paris & Montpellier, ...
bndmr.fr
The RD landscape
 Rarity of affections
 A rare disease affects less than 1 in 2000 citizens
 There are more th...
bndmr.fr
Complex care activity involving
« research »
 Genetic diseases : the clinical genetics dept. @ Necker
Hospital
...
bndmr.fr
Number of cases
 Non precise diseases
are often associated
with phenotypes or
clinical signs for case
based simi...
bndmr.fr
Diagnosis delay
5
bndmr.fr
Objective driven French legal
framework
Epidemiology Care Research
Interoperability of systems and data
Registrie...
bndmr.fr
The French RD network
 131 RD centers of expertise
 501 RD centers of competence
 26 university hospitals
 54...
bndmr.fr
Security and data
confidentiality
Interoperability
Multi-layered networks
8
bndmr.fr
How does the network work?
9
bndmr.fr
How does the network work?
10
bndmr.fr
But networks needs communication
tools to operate
 No national patient records
 No interoperability between hos...
bndmr.fr
What better care could mean to RD patients ?
 Having a diagnosis made through the right expertise
(local or inte...
bndmr.fr
Congenital Nephrogenic Diabetes
Insipidus (source Orphanet)
13
bndmr.fr
Physical card initiative for RD patients
 A physical patient ID card initiative was raised by patient
groups but...
bndmr.fr
More and more international registries
driven by patient groups
 Less than 1 over 4
000 000 people
affected
 A ...
bndmr.fr
What are we missing ?
 A European minimum set of information that can travel
with the patient for basic care and...
bndmr.fr
17
A National data bank for rare diseases (BNDMR)
dedicated to the centres of expertise
The French
Data Repositor...
bndmr.fr
BNDMR : objectives
 Objectives:
 Describe the demand for care
 Describe the offer of care
 Assess the adequac...
bndmr.fr
Objectives
Systems
Interoperability
Domains
Infrastructures
BNDMR : National Data Bank for Rare Diseases; BaMaRa:...
bndmr.fr
From care to research…
BaMaRa RaDiCo
Data:
Minimum data set
All the patients
All the diseases
Data:
Extensive lon...
bndmr.fr
An interoperability framework for RD
21
bndmr.fr
Conclusion
 Patients are rare per disease but numerous and willing to share their
data
 Care and research are i...
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Rare diseases and cross border patient data access

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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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Rare diseases and cross border patient data access

  1. 1. bndmr.fr bndmr.fr Data Management & Privacy in a Rare environment Rémy Choquet & Paul Landais BNDMR, Paris & Montpellier, France eHGI Workshop, 12/03/2014, Brussels 1
  2. 2. bndmr.fr 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) 2
  3. 3. bndmr.fr 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 3
  4. 4. bndmr.fr 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 4 1 3 15
  5. 5. bndmr.fr Diagnosis delay 5
  6. 6. bndmr.fr 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
  7. 7. bndmr.fr 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 ….
  8. 8. bndmr.fr Security and data confidentiality Interoperability Multi-layered networks 8
  9. 9. bndmr.fr How does the network work? 9
  10. 10. bndmr.fr How does the network work? 10
  11. 11. bndmr.fr 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 11
  12. 12. bndmr.fr 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? 12
  13. 13. bndmr.fr Congenital Nephrogenic Diabetes Insipidus (source Orphanet) 13
  14. 14. bndmr.fr 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. 14
  15. 15. bndmr.fr 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 ? 15
  16. 16. bndmr.fr 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 16
  17. 17. bndmr.fr 17 A National data bank for rare diseases (BNDMR) dedicated to the centres of expertise The French Data Repository for RD
  18. 18. bndmr.fr 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 18
  19. 19. bndmr.fr 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
  20. 20. bndmr.fr 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
  21. 21. bndmr.fr An interoperability framework for RD 21
  22. 22. bndmr.fr 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 22

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