Rare diseases and cross border patient data access

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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