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Hanne Hove, consultant in Pediatrics

Head of the Raredis Database

Centre of Rare Disease

Rigshospitalet, Copenhagen

Rare registrationThe importance and

possibilities in securing registration of rare diseases

Why bother…• Registration, counting, evaluations, is

equally important for all disorders/diagnosis and disease groups. Rare or not

• Basic for ec. resources (money flow, capacity, dimensions and further investment.

• Think of fat ”epidemy”/ diabethes/HIV

• More common diseases have focused interested in prevalence and incidense

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Rare disorders have extra challenges

• For just being rare or ultrarare– No ICD 10 coding

• Hard to get a correct diagnosis – time delay

• No or little knowlegde of follow-up/key features/ health indicators (Regionernes fælles pulje)

Registration challenges

• Lack of unique and identical registration –same diagnosis have diffent diagnoses codes

• Different manifestations/clinical symptoms/age at manifestations lead to different registrations/diagnosis

• Many clinicians have limited knowledge of rare disorders – patients are not being registered

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Goal

• Systematic national registration of main and associated diagnosis of rare patients

• Registrations of complications, effective treatment/quality of life

• Enable patients to add own data to existing data files

Health platform: a new danish registration

• New era with the implemation of a new and advanced it-system: Sundhedsplatformen alias Health platform

• Diagnose and patient oriented

• Patient´s own registration

• Easy to mark rare diagnosis that is shown in all patient contacts

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The Health Platformmeans better treatment

New common digital solution at all hospitalsin the Capital Region of Denmark and Region Zealand

The Health Platform – in brief

• All hospitals in eastern part of Denmark are introducing the Health Platform by 2017. Both staff and patients will have access

• One common digital solution for using data and communications

• A new all-in-one patient medical record

• Work routines will change, improving the course of the treatment

• Easier for patients and relatives to take an active part in their treatment

• Lays the foundations for treatment at an international top level.

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The Health Platform in Eastern Denmark

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The Health Platform means working together

• Two regions with a total of 2.5 million citizens

• 12 hospitals

• 44,000 employees in the regions will be using the system

• 46 municipalities can be (partly) linked up to it

• 400 people involved in the project organisation

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Implemented in 1,100 hospitals

New work routines –

This is more than just a new IT system or new medical records

A new way to organise the work

Prepared for the past two years

Work routines, courses of treatment and guidelines are standardised, so that staff all have the same approach

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Vision for the Health Platform

To make things easier for the patient

To make things easier for the health professionals

To make it easier to optimise quality and efficiency in hospitals

To make it easier to do it well...

BETTER COURSES OF TREATMENT

• Results returned faster from blood tests, scans and X-rays

• Avoidance of double examinations, except for medical reasons

• Staff will receive reminders – examples:

– results will not be overlooked

– allergies will not be overlooked

– patients will receive the correct medications

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INVOLVEMENT OF PATIENTS

Easy access to their own health data

Increased dialogue with staff

Patients can book and cancel appointments for selected examinations

Patients can type in their own data and save a trip to the hospital

- and save time for the staff

In ‘My Health Platform’ patients can

Read their own medical records

Ask questions and receive answers

Find guidance for patients

See the results of tests

See appointments at the hospital

See a list of visits and admissions

Enter blood pressure and pulse details

Be alerted about new record entries

Answer questionnaires ahead of appointments

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To be introduced gradually from May 2016 until the end of 2017

Time HOSPITAL

21.05. 2016 Herlev and Gentofte Hospitals

05.11. 2016 The Rigshospital (at Blegdamsvej and in Glostrup)

18.03. 2017 Nordsjællands Hospital, Amager Hospital, Hvidovre Hospital and Bornholms Hospital

20.05. 2017 Bispebjerg and Frederiksberg Hospitals and Mental Health services in the Capital Region

23.09 2017 The hospitals in Nykøbing Falster, Næstved, Slagelse and Ringsted

18.11. 2017 The hospitals in Køge and Holbæk and Region Zealand Psychiatry

Finance: investing in better healthEUR 94 million allocated to the Health Platform by Region Zealand. The Capital Region of Denmark expects to spend EUR 286 million This includes...

EUR 139 million for acquisition and support of the system

EUR 147 million for internal costs; e.g. training and instruction.

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RAREDIS

Nordic collaboration between craniofacial teams

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RAREDIS• Raredis is a Nordic database 

for rare diseases supportedby the Nordic Council of Ministers &  The Norwegian Directorate of Health

• Today represented by Copenhagen

• Other participating centres: Aarhus, Helsinki, Oslo, Odense

Raredis Principles• We study selected rare diseases 

‐ Describe epidemiology, diagnosis, natural course and existing treatment, Investigate effect of treatments

‐ Act as a resource to identify RD patients suitable for projects

• Diseases that are so rare one nationwide register is not sufficient  and too common to necessitate a (pan‐)European project

• Diseases that will benefit from long‐time follow‐up

• Future: Genetic disease for which treatments will become available

• One database for all rare diseases• Core data = ID, age, sex, ICD10

• Petals

• Specific to the diagnosis

• Specific to a project

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General principles for Raredis• We have created the framework for a Nordic registry (legal, technical)

• Every institution own their data and may publish separately

• Raredis does not own the database

• The Nordic countries (governments) do not own the database

• Collaborators can apply to a board (representatives of all contributing countries for the use of Raredis data (on a project basis)

CORE data

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PETALS Diagnosis specific data

PETALS Project specific data

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Raredis Principles (cont)Present projects

• Intervention projects – prospective, long term

• Scaphocephaly (premature fusion of sagittal suture in the skull ) project

• 130 patients / 18 months

• Prospective evaluation of treatment effects – different centres use different operation techniques

• Complex craniosynostoses

• ~200 patients in Denmark and Norway (centralized treatment) ‐Several genetic subgroups 

• Study natural course and effect of surgery (retrospective)

• Evaluation of new treatment (operation techniques)

• White matter

• Registration and follow‐up of children with characteristic changes on MRI of brain

• DiGeorge/22q11

• Registration PhD project

Database of RD patients

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Database of RD patientsRaredis

overgrowth syndroms 43complex chromosomale syndroms 157

complex syndroms with psychomotor delay 252hereditary connective tissue 521harmatomatous disease 825craniofacial syndroms 543

skeletal dysplasia 172

hereditary skin diseases 25

total excl. metabolic diseases 2500

My thoughts on future developments ‐ Raredis

• ”Data flow should be from local database to the central database”

• What about data flow from the Nordic database to European databases for rare diseases (diagnosis and/or project specific databases)

• Preparing for back transfer of data from the database to the patient/institution• Aim: Identify patients suitable for theraputic trials

• Therapies may become independent of diagnosis, may become mutation class specific (e.g. therapy for nonsense mutations)

• In Raredis – contact via the submitting centre

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How do we connect existing data sources (genotype‐phenotype)?

Building on existing scientificenvironments and infrastructure

RAREDIS National databases starting with (clinical) phenotype – now expanding with genotype data

Databases with results of (diagnostic) nextgeneration sequencing

Why bother…

• indeed it’s about time to get involved and secure rare registrations. Data of all aspects from basic registrations to soft data such as quality of life – should be systematically registered for all disorders/diagnosis and disease groups …

• being rare brings an extra challenge – but knowledge is power

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The successful implementation is challenging 

• Things take time ‐ Probably at least a 5 year perspective is needed

• General registration need dedicated resources at each center (secretarial support)

• Research initiatives must be managed by dedicated staff (phd‐students or similar)

• The initiatives must be based on existing initiatives and existing databases instead of starting new

• One real challenge is defining good projects

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Future developments

• Adding more diagnoses – project based

• Legal and political aspects:

• Nordic council 2010: Expert committee to report on how Nordic collaboration on highly specialized treatment may lead to improved quality in each country 

• And how this may benefit the rare diseases

• 2012: Report prioritized 5 items including nordic registries for highly specialized treatment 

Future developments (cont)

• Subcommittee report on registries – databases

• Lists existing Nordic registries (n=8)

• Recommending two Nordic databases as pilots• Injuries to the spinal cord

• Prothesis for ankle and wrist

• Model (to be determined): Either expansion of existing local‐national registries or the Nordic datase for rare diseases

• Both models build on existing research environments and infrastructure – databases are regarded as an essential part of a scientific collaboration within the health service (bottom up)

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My thoughts on future developments ‐ Raredis

• ”Data flow should be from local database to the central database”

• Petal: Standardized Phenotype data

• ICD10, Orpha#, MIM, other?

• Human phenotype ontology?

• Petal: Standardized Genotype data

• HGDV format or similar

Databases of standardized Genotype data exist for groups of RD patients

Data originally collected for health service reasons (diagnostic activity)

• Genomic variation databases expanding into gene single gene variation detection by next generation sequencing

• Decipher, Ecaruca, ISCA

• Large projects aiming at collecting both genotype and phenotype

• UK: the DDD‐project 

• DDD=deciphering developmental disorders

• Computer tools for automatic funneling of data from local to central databases is in  development 

• Microarray – Cartagenia       used by 120 labs – module to share data and export to central databases

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Necessary modernisation on a well tested system

A new system is necessary, because the old one is out of date

The Health Platform was selected through a public tender

American Epic submitted the strongest offer – based on functionality, economy, implementation, collaboration and technology etc.

The Epic solution is in use in 1,110 hospitals in the US, Europe and elsewhere

The Health Platform brings four major improvements

BETTER COURSES OF TREATMENT

INVOLVEMENT OF PATIENTS

EASIER WORK ROUTINES

BETTER PLANNING AND SUPPORT FOR DECISIONS

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EASIER WORK ROUTINES

No need to log in to multiple systems and type in the same data in different places Less duplicated work means more focus on the patient

Doctors can easily type in patient data: dictations are avoided, with improved patient security and leads to more efficient treatments

Staff will have mobile units with the Health Platform so they can

- act on new results - respond to questions and wishes

BETTER PLANNING and SUPPORT FOR DECISION MAKING

For selected diagnoses, there will be treatment packages– patients will be treated faster, at a uniform high level

It will be easier to extract data so that management has an overview of re-admissions, beds available, and possible improvements in quality– citizens get more quality and health for their money

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The Health Platform will enable staff to

Manage general documentation of treatment and care

Manage requisitions and results, e.g. lab tests and X-rays

Manage patient administration and bookings for surgery

Manage medication processes

Transfer data directly from selected medicotechnical

equipment to the Health Platform

Access relevant data for research

Form a better overview of re-admissions

and vacant beds

Staff must change their work routines

44,000 users have to be trained

Courses of treatment are delayed. Staff work more slowly

Step-by-step introduction – staff are always beginners with some dissatisfaction

The Health Platform will be extended gradually – some functions will not be available at the start.

Staff and patients must be prepared for ‘work in progress’ and major changes

A complex process of change over several years

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We help each other along the way

20 % from hospitals with earlier implementation

Example: Distribution of super-users

60 % from the implementing hospital

20 % from hospitals awaiting implementation

A broad outline of the plan for implementation

Cut over

Training

Readiness assessments

Preparations for ready to Go-live

24/7 support Post live

Go live– 1 year + 8 months

Follow-up on application

The hospitals prepare for a year before the actual start

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Benefits from the Health Platform

Professional quality

FinancePatients’

perception of quality

Examples of benefits•Fewer bed-days & readmissions per course•Fewer outpatient visits per course •Fewer examinations per course •Fewer errors in medication per course •More efficient diagnosis and treatment•Records kept more efficiently•More patients’ questions answered•More patients feel that staff have studied their records.

Profits of EUR 108 million annually after full implementation

Modernisation will place the hospitals at top level The Health Platform will replace as many as 30 older IT systems

Hospitals’ use of technology in treatment is ranked internationally on a scale from 1 to 7. Today, Danish hospitals are rated at 5.3

The Health Platform will bring the hospitals up to level 6.

HIMSS 2015Scale 1-7

HIMSS: Healthcare Information and

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Collaboration with the primary sector

It will be possible for GPs, consultants and home nurses to see records, too

In spring 2017 a pilot project will be carried out with a municipality and a psychiatric home. A decision will then be made whether to offer the system to the primary sector

The Health Platform is linked to the Danish e-Health Portal at www.sundhed.dk

High level of data security

Staff will be able to access the necessary data in order to treat the patient

Staff access to data is vital in order to provide coordinated, high quality treatment

Patients are entitled to refuse to allow health details to be retrieved

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Communications must:

be credible and balanced

be understandable for patients, relatives and citizens

create understanding of changes and disruptions.

An important principle in communications:we are honest about advantages and disadvantages

Four main focal points in our communications

Users All employees

Patients and relatives

External stakeholders

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Raredis Principles (cont)

• Establish stable, fully functional networks of collaborating researchers

• This is essential to secure the full support for the Raredis effort from all the relevant scientific groups in the Nordic countries

• Raredis language = English

• Avoiding problems of translation

General principles (cont)

• Data collection is in the health service

• Web based manual entry

• Automatic data transfer from local hospital database to Nordic database (Oslo only)

• Data flow should be 

• (from the health service to)

• the local database to

• the central database