Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

This article addresses the role of pharmacoepidemiology in patient safety and the crucial role of data sharing in ensuring that such activities occur. Against the backdrop of proposed reforms of European data protection legislation, it considers whether the current legislative landscape adequately facilitates this essential data sharing. It is argued that rather than maximising and promoting the benefits of such activities by facilitating data sharing, current and proposed legislative landscapes hamper these vital activities. The article posits that current and proposed data protection approaches to pharmacoepidemiology — and more broadly, re-uses of data — should be reoriented towards enabling these important safety enhancing activities. Two potential solutions are offered: 1) a dedicated working party on data reuse for health research and 2) the introduction of new, dedicated legislation.

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Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project

European Journal of Human Genetics ◽

10.1038/ejhg.2015.115 ◽

2015 ◽

Vol 24 (3) ◽

pp. 338-343 ◽

Cited By ~ 9

Author(s):

Sylviane Darquy ◽

Grégoire Moutel ◽

Anne-Sophie Lapointe ◽

Diane D'Audiffret ◽

Julie Champagnat ◽

...

Keyword(s):

Data Sharing ◽

Rare Diseases

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SpainUDP: The Spanish Undiagnosed Rare Diseases Program

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph15081746 ◽

2018 ◽

Vol 15 (8) ◽

pp. 1746 ◽

Cited By ~ 6

Author(s):

Estrella López-Martín ◽

Beatriz Martínez-Delgado ◽

Eva Bermejo-Sánchez ◽

Javier Alonso ◽

Manuel Posada ◽

...

Keyword(s):

Data Sharing ◽

Rare Diseases ◽

Careful Analysis ◽

Phenotypic Characterization ◽

Human Phenotype ◽

Delay In Diagnosis ◽

Patient Organizations ◽

The Usa ◽

One Year ◽

Undiagnosed Diseases

One of the IRDiRC goals for 2017–2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as delay in diagnosis remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created in response to this challenging scenario to cover patients’ needs and after seeing the success of the Undiagnosed Diseases Program (UDP) in the USA. SpainUDP offers a multidisciplinary approach to those patients who have long sought a diagnosis without any success. During the first phase of the protocol, undiagnosed cases are sent to SpainUDP by individual patients or families, patient organizations or hospitals. After careful analysis of phenotype, data from sequencing experiments (WES) is processed with a standard pipeline and detailed standardized phenotypic information (mapped to the Human Phenotype Ontology, HPO) is connected to genetic data. In addition, the participation of SpainUDP in international initiatives such as the European projects RD-Connect and Solve RD, the Undiagnosed Diseases Network International (UDNI), and the MatchMaker Exchange (MME) platform, allows the establishment of a global data sharing strategy across multiple projects submitting data to these international initiatives. From the official beginning of the program (at the end of 2015) until early 2018, 147 cases were accepted in SpainUDP. During this time, 37 cases (25%) dropped out the program due to several reasons. The remaining 110 cases are distributed as follows: phenotypic and genotypic (WES) characterization was finished in 30 cases, of which 20 (67%) were diagnosed; 21 cases are pending on variants’ validation by Sanger sequencing; in 25 cases, WES is ongoing and 34 cases are being studied for deep phenotypic characterization. In conclusion, SpainUDP aims to achieve a diagnosis following two recommendations of the IRDiRC: the patients’ diagnosis in as short a time as possible and the promotion of data sharing (especially genomic) at the international level.

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European Journal of Human Genetics ◽

10.1038/s41431-021-00859-0 ◽

2021 ◽

Author(s):

Birte Zurek ◽

◽

Kornelia Ellwanger ◽

Lisenka E. L. M. Vissers ◽

Rebecca Schüle ◽

...

Keyword(s):

Rare Disease ◽

Rare Diseases ◽

Disease Genes ◽

Minimum Requirement ◽

Horizon 2020 ◽

European Reference Networks ◽

Patient Representatives ◽

Reference Networks ◽

Collaborative Analysis ◽

First Time

AbstractFor the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.

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Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases

American Journal of Medical Genetics Part C Seminars in Medical Genetics ◽

10.1002/ajmg.c.31868 ◽

2020 ◽

Author(s):

Lauren May ◽

Meghan C. Towne ◽

Ginger Haynes ◽

Emily Dalton ◽

Holly LaDuca ◽

...

Keyword(s):

Data Sharing ◽

Rare Diseases ◽

Medical Community

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2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Genetics in Medicine ◽

10.1038/s41436-018-0383-z ◽

2018 ◽

Vol 21 (7) ◽

pp. 1657-1661 ◽

Cited By ~ 4

Author(s):

Ange-Line Bruel ◽

◽

Antonio Vitobello ◽

Frédéric Tran Mau-Them ◽

Sophie Nambot ◽

...

Keyword(s):

Data Sharing ◽

Rare Diseases ◽

New Genes

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SpainUDP: The Spanish Undiagnosed Rare Diseases Program

10.20944/preprints201806.0216.v1 ◽

2018 ◽

Author(s):

Estrella López Martín ◽

Beatriz Martínez-Delgado ◽

Eva Bermejo-Sánchez ◽

Alonso Javier ◽

Manuel Posada

Keyword(s):

Data Sharing ◽

Rare Diseases ◽

Phenotypic Characterization ◽

Diagnosis Delay ◽

Patient Organizations ◽

Phenotype Data ◽

One Year ◽

Undiagnosed Diseases ◽

Undiagnosed Diseases Network ◽

Global Data

One of the IRDiRC goals for 2017-2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as diagnosis delay remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created in response to this challenging scenario to cover patients’ needs and after seeing the success of the UDP in USA. SpainUDP offers a multidisciplinary approach to those patients who have long sought a diagnosis without any success. During a first phase of the protocol, undiagnosed cases are sent to SpainUDP by individual patients, patient organizations or hospitals. After a carefully analysis of phenotype, data from sequencing experiments (WES) is processed with a standard pipeline and a detailed standardized phenotypic information (mapped to HPO) is connected to genetic data. In addition, the participation of SpainUDP in international initiatives such as the European projects RD-Connect and Solve RD, the Undiagnosed Diseases Network International (UDNI), and the MatchMaker Exchange platform, allows the establishment of a global data sharing strategy across multiple projects submitting data to these international initiatives. From the official beginning of the program (at the end of 2015) until early 2018, 147 cases were accepted in SpainUDP. During this time, 37 cases (25 %) dropped out the program due to several reasons. The remaining 110 cases are distributed as follows: phenotypic and genotypic (WES) characterization was finished in 30 cases, of which 20 (67 %) were diagnosed; 21 cases are pending on variants validation by Sanger; in 25 cases, WES is ongoing and 34 cases are in a deep phenotypic characterization. As a conclusion, SpainUDP aims to achieve a diagnosis following two recommendations of the IRDiRC: the patients’ diagnosis in a period of time as short as possible and the promotion of data sharing (especially genomic) at the international level.

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Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases

10.3233/shti210827 ◽

2021 ◽

Author(s):

Norbert Maggi ◽

Ariam Boaglio ◽

Carmelina Ruggiero ◽

Roberto Fancellu ◽

Francesco Cocchiara ◽

...

Keyword(s):

Risk Assessment ◽

Disease Prevention ◽

Special Reference ◽

Data Sharing ◽

Healthcare System ◽

Rare Diseases ◽

Medical Records ◽

Genetic Factors ◽

Pathological Condition

Undiagnosed rare diseases include diseases with a well-characterised phenotype, diseases with unknown molecular causes or due to non-genetic factors, and pathological condition that cannot be named. Several initiatives have been launched for healthcare of patients with undiagnosed rare diseases. A project for development of medical records with special reference to the HL7 standards is being carried out in Genoa (Italy), taking into account regional and national regulations. The project is based on the integration of functionality related to patient diagnostics, taking into account omic sciences for disease prevention and risk assessment. Considering the evolution of standards, the use of FHIR is being considered in order to increase the elasticity of the system also in view of foreseeable adoption of this standard by the Italian healthcare system.

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