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RD-Connect WP2 UPDATE:
DATABASES/PATIENT REGISTRIES
Domenica Taruscio, ISS Team (Claudio Carta, Federico De Paulis
Sabina Gainotti, Yllka Kodra, Paola Torreri ) and WP2 Members
DATABASES/PATIENT REGISTRIES
Main achievements and challenges
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1) ID-Card and catalogue
2) Evaluate databases/registries
RD-Connect WP2 UPDATE:
DATABASES/PATIENT REGISTRIES
Main achievements and challenges
2) Evaluate databases/registries
against standards and best practice
3) Training
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Lead: ISS. Participants: ISCIII, NIH-ORDR, OPHG, MURDOCH, EURORDIS, UPD-7, AMU, UU
MAPPING and INTEGRATING registries MAPPING and INTEGRATING registries
into the IDinto the ID--Card catalogueCard catalogue
- inviting registries (e.g. invitation letter & scientific meetings)
Task 2.1 Map existing registry infrastructure and evaluate
databases/registries against standards and best practice
- inviting registries (e.g. invitation letter & scientific meetings)
- checking the literature, Orphanet's report on RD-registries and the
main RD registry networks and EU projects
� Active search in the literature of RD registry based studies � Curator pre-completes the Disease Matrix � Invitation sent to the registry owner with the request
to check and update the data, or "opt out" from the catalogue
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Task 2.3: Create online searchable catalogue
of databases and registries
Lead: ISS
Participants: ISCIII, CNAG, NIH-ORDR, PC, OPHG, MURDOCH, UPD-7
D2.16: Annual update of online catalogue of database/registriesD2.16: Annual update of online catalogue of database/registriesM48M48
1) updates to the software2) additional registries invited to join the system
March 2016 : 300 ID-Cards /90 with aggregated data available in the DM
April 2017: 350 ID-Cards in the online catalogue/
181 with aggregated data available
2) additional registries invited to join the system3) new version of the “User Guide ID catalogue”
released
April 2017: 350 ID-Cards in the online catalogue/ 181 with aggregated data available
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ID-Cards by countries
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ID-Cards by ERN
If a registry is part of an ERN : we add the ERN logo on its ID-CARD
if a registry is not - add the EUCERD categories
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� the integration of ORPHADATA in the ID-Card catalogue
for the auto-completion of disease name and codes in the DM is partially
completed (allowing auto-filling starting from first letters of disease name or from
first numbers of Orphacode but currently not complete the 2 fields together).
automated updates of the Disease Matrix from registries to the ID-Card
Software updates
� automated updates of the Disease Matrix from registries to the ID-Card
catalogue is being tested by RD-CONNECT registries in PatientCrossroads.
� improvement of the website: features, tools and functionality (in progress)
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1) ID-Card and catalogue
2) Evaluate databases/registries
against standards and best practice
RD-Connect WP2 UPDATE:
DATABASES/PATIENT REGISTRIES
Main achievements and challenges
against standards and best practice
3) Training
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Objectivedevelop guidance for the minimum requirements, recommendations and
standards necessary to maintain a high quality registry
Methodology- a group of experts, including rappresentative of Patients Organisations was
Task 2.1 Evaluate databases/registries
against standards and best practice
- a group of experts, including rappresentative of Patients Organisations was
setting-up :
Yllka Kodra, Manuel Posada-de-la-Paz, Estrella Lopez, S. Faisal Ahmed, Alessio Coi, Michele Santoro, Fabrizio Bianchi, Jérôme
Weinbach, Paul Landais, Yaffa R. Rubinstein, Paola Torreri, Sabina Gainotti, Claudio Carta, Anna Ambrosini, Virginie Bros-Facer, Daniel
Renault, Rainald von Gizycki, Marieke Van Meel, Veronica Popa, LydieLemonnier and Domenica Taruscio
Please visit the Poster P.19
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�the establishment of the
registry governance
�identification of the right Data
Sources
�development of Standardized
Total quality of a registry:
involves several topics
Governance
Clinical data Patient data
(PROs)
Data source
Fee
db
ack
to
au
die
nce
Total quality
�development of Standardized
Case Report Form (CRF)
�construction of a suitable
Central Database Infrastructure
�production of data quality
� dissemination of a quality
information
Data recipient
Case Report Form
(CRF)
Central Database
infrastructure
Data quality
Quality information
Fee
db
ack
to
au
die
nce
Partial quality
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Topics Actions
Governance establishing leadership and management, ensure sustainability , involve
Patients, ethical issues, security, accessibility and privacy
Data source establish case definition; case inclusion/case exsclusion
Case Report Form (CRF)
and Standardisations
designing a good CRF: selection of a limited number of data elements
addressing the registry objectives, using Standards (coding system and
terminologies, reference ontologies, formats, classifications)
Central database
Infrastructure
selecting a secure-by-design Information System infrastructure,
technically accessible, including data storage, data management & data
validation tools
Data quality measuring and monitoring regularly the level of completeness, validity, Data quality measuring and monitoring regularly the level of completeness, validity,
timeless, usefulness, access history logs, duplicate records
Quality information developing a data analysis plan and interpretation; ensure data sharing
and availability of data, establish Findable, Accessible, Interoperable and
Reusable (FAIR) data including metadata
Documentation developing and maintain transparent documentation (high quality of clear
protocol study, Operating manual, SOPs, training manuals, regulatory
authorisations, patient consents...)
Training training of staff in the importance of data quality and provide training to
new registry managers, clinical training to standardize data collection
among data providers
Data quality audit providing independent systematic examination of data
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Tools on going
• Reccomendations by consensus withexperts
• Check list for internal / external audit• Quality indicators• Quality indicators• Training
i) Summer school on registries (18- 22 September 2017 : 1 day on Quality -19 September)ii) video tutorial
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1) ID-Card and catalogue
2) Evaluate databases/registries
against standards and best practice
RD-Connect WP2 UPDATE:
DATABASES/PATIENT REGISTRIES
Main achievements and challenges
against standards and best practice
3) Training
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D2.17: Training materials and registry toolkit, M37 to M48
Lead: ISS.Participants: All WP partners.
A year ago…..
Task 2.7: Develop training materials and an online “registries toolkit”
for new databases and registries, and hold training workshops.
ELIXIR All-Hands 2016: Elixir and RD-Connect workshop.
A common workshop between ELIXIR and RD-Connect members was
organised (8 March 2016) as a special session at the ELIXIR All-Hands
meeting in Barcelona (7-10 March 2016) to identify specific training needs
and to deliver specific knowledge to the rare disease community to raise
the capacity of the participants.
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�Course: Managing and Integrating Life Science Information
Under the auspices of the Dutch Bioinformatics & Systems Biology Research School
Utrecht, The Netherlands, 30 November - 4 December 2015
�Workshop/training: “Including biobanks & registries in the RD-Connect platform”
( During RD-Connect Annual meeting)
Barcelona, Spain, 9-11 March 2016
Task 2.7: Develop training materials and an online “registries toolkit”
for new databases and registries, and hold training workshops.
Barcelona, Spain, 9-11 March 2016
� Workshop: “Next generation registries: going FAIR, going Gold”
Rome, Italy, 27-29 July 2016
�Workshop 6 – FAIR Data and Data Stewardship
(at 15th European Conference on Computational Biology, ECCB, 2016)
The Hague, The Netherlands, September 3, 2016
�4th International Summer School on: “Rare Disease and Orphan Drug Registries”.
Rome, Italy, 26 – 28 September 2016
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Task 2.7: Develop training materials and an online “registries toolkit”
for new databases and registries, and hold training workshops.
�RD-Connect BYOD Workshop to Link Rare Disease Registries
Rome, Italy, 29-30 September 2016
� FAIR Data and Data Stewardship tutorial
During the 9th International SWAT4LS Conference 2016 Amsterdam, The Netherlands, 5 December
2016
Please visit Posters: Please visit Posters:
P.7 : Bring Your Own Data workshop a joint effort to promote and support FAIR RD-Registries
Carta C, Roos M, Jansen M, van Enckevort D, Wilkinson MD, Kaliyaperumal R, Cornet R, Torreri P, da Silva
Santos LOB, Kodra Y, Taruscio D.
P16: Boosting genotype-phenotype and translational research on rare diseases by establishing Findable,
Accessible, Interoperable and Reusable data resources through data linking technologies
Jacobsen A, van Enckevort D, Carta C, Thompson R, Szabo T, Thompson M, Ehrhart F, Kaliyaperumal R,
Sernadela P, Reihs R, da Silva Santos LOB, Wilkinson MD, Müller H, Oliviera JL, Evelo C, Taruscio D, 't Hoen PA
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Training materials developed from M37 to M48
✓Scientific aims, Sustainability , adaptability
✓Registries aims sustainability governance
✓Patient Unique Identifier
Task 2.7: Develop training materials and an online “registries toolkit”
for new databases and registries, and hold training workshops.
✓ Increasing the value of your registry part 2
✓ Ontologies for data integration
✓ Patients needs and experiences ✓Patient Unique Identifier
✓Data quality
✓Quality assurance
✓Data elaboration essentials
✓Publication accessibility informed consent
✓Increasing the value of your registry part 1
✓ Patients needs and experiences
✓ Ring14 International
✓ Italian database clinical and epidemiological
data of Paroxysmal Nocturnal Hemoglobinuria
✓ The italian Cystic Fibrosis patient registry
✓ Italian Duchenne and Becker Muscular
Dystrophy patients registry
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Examples of other related activities
- RD-Connect and ELIXIR-EXCELERATE -
✓Invited lecture, Fundación Ramon Areces, Madrid, November 2016
✓Invited lecture, Sample & Data Banking Course, Bologna, December 2016
✓9th International Semantic Web Application and Tools 4 Life Science, Conference. Amsterdam, NL, 5
Dec 2016
✓Third IRDiRC Conference, Paris, France, February 8-9 2017
✓Panel EURORDIS multi-stakeholder event, Brussels, February 22 2017Panel EURORDIS multi-stakeholder event, Brussels, February 22 2017
✓3rd conference on ERNs, Vilnius, 9 March 2017
✓ELIXIR All Hands Meeting, Rome, Italy, 21-23 March 2017
✓Bioinformatics & Systems Biology 2017 conference, Lunteren, The Netherlands 4-5 April 2017
✓RD-ACTION Workshop Co-hosted by DG SANTE: Using standards and embedding good practices to
promote interoperable data sharing in ERNs, Brussels, April 26-27, 2017
Coming soon, i.e. :
�E-Rare Data Sharing and Harmonization Workshop, Berlin, May 3-4, 2017
✓ESHG 2017 Conference, 50th Anniversary, Copenhagen, 27-30 May 2017
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Open to health professionals,
researchers, medical specialists, registry
curators, database managers and
representatives of patients associations
who are involved in or intend to
Task 2.7: Develop training materials and an online “registries toolkit”
for new databases and registries, and hold training workshops.
To promote and support FAIR RD Registries
who are involved in or intend to
establish a rare disease registry, mainly
inside a ERN.
This edition dedicated to ERNs.
We should have:
• a registry curator (clinician)
• a data manager or IT-expert
• an ePAG representative, patient,
or representative
Are you interested?
Send an e-mail to:
rareregistries-school@iss.it
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Thanks for
your
attention !
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