# Presentation: 714304

## European Efforts on information databases for genetic diseases and testing servicesValérie Thibaudeau, PhD

*Orphanet - INSERM SC11*
*Plateforme Maladies Rares*
*102 rue Didot - 75014 Paris*
*www.orpha.net*

## Orphanet established 10 years ago...

- French pilot project since January 1997
- At the request of Ministry of Health
- Developed by INSERM (French NIH)
- European project since 2000
- Funded by the European Commission (DG Public Health + DG Research)
- Objective:
- to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases (which includes all rare diseases)

## Orphanet, an information service...

**An encyclopedia**

- About 1800 diseases
- 662 review articles English and French
- 1800 summaries in 6 languages
- Expert- authored
- Peer-reviewed: International board
- Free access, online publication: OJRD
- Partnership with EJHG

**A directory of services **
***In Europe***

- 2,227   expert clinics
- 1,071   clinical labs
- 1,751   research labs
-    529   clinical trials
- 3,696   research projects
-    220   registries
-    367   networks
- 1,381   advocacy groups
- 7,920   professionals

## A set of services for all stakeholders...

**For patients**

-  Registration service to be enrolled in clinical research
-  « Contact-a-patient » service

**For health professionals**

-  Support to diagnosis
-  Emergency guidelines

**For advocacy groups**

-  Free of charge web services

**For researchers and Industry**

-  OrphanXchange: to boost partnership between Academia and Industry

**For all**

-  OrphaNews Europe

## Orphanet, a tool for all stakeholders

**20 000 daily users from **
**140 countries**

**Professionals** (66%)

**Patients **(34%)

- MD in hospital
- Teachers/students
- MD in private practice
- Other professional
- Health prof. , non MD
- Experts in rare diseases
- Biologists
- Info scientist/media
- Pharmacist

**19,8%**
- 10,8%
- 8,1%
- 8,3%
- 4,6%
- 4,4%
- 2,5%
- 1,6%
- 1,3%

** **Patients
-  Parents
-  Family
-  Other

**13,3%**
- 8,0%
- 6,2%
- 6,5%

## Dedicated teams all over Europe

**And a team of 25 professionals in Paris**

## Data collection in 35 countries

- 1997

- 2001

- 2002

- 2003

- 2004

- 2006

**Data collection in 35 countries**

## Orphanet partnerships...

**Orphanet partnerships...**

**EMEA**
- Public database of orphan drugs

- Revision ICD 10
**WHO**

**EPPOSI**
- Partnering workshops

- Human genes
**GenAtlas**

- Scientific advice
- Conferences
**EC: DG **
**Research**

**EU HIGH LEVEL **
**GROUP**
- Reference centres in EU: mapping and recommendations

**EC:DG **
**Public Health**
- Secretariat Task Force of rare diseases

**EuroGenTest**
- Genetic testing

## Slide 9

## Classification and coding... 

**New features of the database:**

-  Classifications of rare diseases (all)
- by medical area, by mechanism, by gene,  by main clinical expression, by etiology, by prevalence, by mode inheritance pattern, by age at onset

-  Indexation with MeSH terms – access to PubMed

## Clinical tests and clinical laboratories

- The EuroGentest project
- Establish a network of Quality across Europe
- Promote research, proper utilization, quality assurance and adequate management of genetic services
- Harmonize the accreditation and certification of genetic testing laboratories and the EQA schemes
- Establish procedures and guidelines for the validation of methods and technologies.

## Orphanet-EuroGenTest partnership

**EuroGenTest contribution**

**Orphanet-EuroGenTest partnership**

- All countries
- Collection of data on scope of activity

- Team: Els Dequeker (Leuven) and Mike Morris (Geneva)
- Collection and validation of info on quality assurance
- Accreditation of labs, Certification, EQA

## Slide 13

## Slide 14

## Slide 15

## Transborder flow of specimens: rationale

- Good reasons
- Test not available in the country
- Higher quality of service abroad
- Part of a collaborative research study
- Debatable reasons
- Established network (commercial and non commercial) / exchange
- Cheaper test

## Transboarder flow of specimens Top senders

- Results from OECD survey
- USA			to 14 countries
- UK			to 13 countries
- Netherlands 	to 12 countries
- Spain			to 12 countries
- Italy 			to 11 countries

## Transboarder flow of specimensTop receivers

- Results from OECD survey
- UK		from 28 countries
- Germany	from 28 countries
- France 	from 27 countries
- USA		from 23 countries
- Italy 		from 23 countries
- Austria	from 22 countries

## International co-operation

- OECD recommendations:
- 	- networks for improving access to genetic testing for rare diseases
- 	- mutual recognition of EQA systems
- 	- guidelines: storage, privacy and security
- Information on genetic tests:
- 	- tests available in Europe / tests available in the US
- 			GeneClinics/Orphanet partnership ?

## Thank you for your attention