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Design, Development and Deployment of a Web-Based Interoperable Registry for Inherited Retinal Dystrophies in Portugal: the IRD

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Design, Development and Deployment of a Web-Based Interoperable Registry for Inherited Retinal Dystrophies in Portugal: the IRD Marques et al. Orphanet J Rare Dis (2020) 15:304 https://doi.org/10.1186/s13023-020-01591-6 RESEARCH Open Access Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT João Pedro Marques1,2,3* , Ana Luísa Carvalho3,4,5, José Henriques6, Joaquim Neto Murta1,2,3, Jorge Saraiva3,4,7 and Rufno Silva1,2,3 Abstract Background: The development of multicenter patient registries promotes the generation of scientifc knowledge by using real-world data. A country-wide, web-based registry for inherited retinal dystrophies (IRDs) empowers patients and community organizations, while supporting formal partnerships research. We aim to describe the design, development and deployment of a country-wide, with investigators and stakeholders in the global aim to develop high-value, high-utility web-based, user-friendly and interoperable registry for IRDs—the IRD-PT. Results: The IRD-PT is a clinical/genetic research registry included in the retina.pt platform (https ://www.retin a.com. pt), which was developed by the Portuguese Retina Study Group. The retina.pt platform collects data on individuals diagnosed with retinal diseases, from several sites across Portugal, with over 1800 participants and over 30,000 consul- tations to date. The IRD-PT module interacts with the retina.pt core system which provides a range of basic functions for patient data management, while the IRD-PT module allows data capture for the specifc purpose of IRDs. All IRDs are coded accordingly to the International Statistical Classifcation of Diseases and Related Health Problems (ICD) 9, ICD 10, ICD 11, and Orphanet Rare Disease Ontology (ORPHA codes) to make the IRD-PT interoperable with other IRD registries across the world. Furthermore, the genes are coded according to the Ontology of Genes and Genomes and Online Mendelian Inheritance in Man, whereas signs and symptoms are coded according to the Human Pheno- type Ontology. The IRD-PT module pre-launched at Centro Hospitalar e Universitário de Coimbra, the largest reference center for IRDs in Portugal. As of April 1st 2020, fnalized data from 537 participants were available for this preliminary analysis. Conclusions: In the specifc feld of rare diseases, the use of registries increases research accessibility for individuals, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research. Appropriate design and implementation of patient registries enables rapid decision making and ongoing data mining, ultimately leading to improved patient outcomes. We have described here the principles behind the design, development and deployment of a web-based, user-friendly and interoperable software tool aimed to generate important knowledge and collecting high-quality data on the epidemiology, genomic landscape and natural history of IRDs in Portugal. *Correspondence: [email protected] 1 Ophthalmology Unit, Centro de Responsabilidade Integrado em Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal Full list of author information is available at the end of the article © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creat iveco mmons .org/licen ses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creat iveco mmons .org/publi cdoma in/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Marques et al. Orphanet J Rare Dis (2020) 15:304 Page 2 of 13 Keywords: Inherited retinal dystrophies, Registry, Rare diseases, Interoperability, Software, Data management, Research, Epidemiology, Natural history, Clinical genetics Background research increases [7]. A national, web-based registry Te Agency for Healthcare Research and Quality for IRDs is able to empower patients and community defnes a registry as “an organized system that uses organizations, while supporting formal partnerships observational study methods to collect uniform data with investigators and stakeholders in the global aim to (clinical and other) to evaluate specifed outcomes for a develop high-value, high-utility research. population defned by a particular disease, condition, or When developing a registry, it is essential to ensure that exposure, and that serves one or more predetermined it is ethically governed, user-friendly and designed with scientifc, clinical, or policy purposes” [1]. Clinical maximum sustainability. Tis includes the implementa- registries have existed for decades in the feld of oph- tion of foundational, structural, semantic, and organiza- thalmology [2–5], serving a variety of purposes, which tional interoperability processes to optimize the utility include (1) capturing the epidemiologic features of an of data and allow its linkage to other existing or future ocular disease or condition, (2) tracking outcomes and registries [7]. By making data computationally accessible, complications of drugs or procedures, (3) recording it is possible to bridge compatibility gaps between dif- adverse events, or (4) combinations of the above [6]. In ferent hospitals, healthcare systems, registries and lan- recent years, policy makers started recognizing clinical guages [17]. Adoption of comprehensive phenotype and registries as an important tool for improving the value rare disease ontologies enables this type of sharing by of healthcare. Outcome data is now used to fll in gaps making data fndable, accessible, interoperable, and re- of evidence that cannot be provided by randomized usable (FAIR principles) [18]. Tese features have made controlled trials [6]. Furthermore, data from clinical Orphanet Rare Disease Ontology (ORDO) a standard registries is also increasingly being used to facilitate for rare disease coding in European health-care systems learning networks and to establish research collabora- and led to the widespread adoption of ontologies like the tions between scientifc researchers, clinicians, indus- Human Phenotype Ontology (HPO) by global genomics try, regulators, patient organizations, patients and initiatives, like the European Reference Network for Rare families [7]. Tis is especially true for rare diseases Eye Disease (ERN-EYE) [17]. where the small number of cases for each disease cre- Te purpose of this study is to describe the design, ates additional barriers in the translational research development and deployment of a country-wide, web- pathway, and makes identifcation and establishment of based, user-friendly and interoperable registry for a substantial cohort a very difcult task. IRDs—the IRD-PT. Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogenous group of diseases with Results an estimated prevalence of 1 in 3000 individuals [8]. Data capture Despite some common ground, genetic profles vary Te IRD-PT was designed to capture longitudinal data on considerably among regions and ethnic groups [9–16], IRDs. Te data captured by the IRD-PT module is kept to thus highlighting the importance of obtaining refer- a minimum to deliver an efcient and user-friendly data ence population-based data. Te presence of founder collecting tool. Te user must complete all the mandatory mutations may greatly contribute for these diferences, felds/check all the mandatory boxes in order to save the as observed in a large Israeli population [9]. While entry. However, the system allows editing and/or comple- local hospital-based registries may provide high qual- tion of previously unanswered non-mandatory felds at ity information and resources, their coverage is usually the user’s convenience. Te list of covered clinical diag- small. To fully understand the prevalence and genomic noses is shown on Table 1, while the list of the genes and landscape of IRDs, we must connect knowledge that is their respective Ontology of Genes and Genomes (OGG) widespread throughout miscellaneous registries. Te and Mendelian Inheritance in Man (MIM) numbers are development of multicenter patient registries and natu- shown on Table 2. Even though inherited optic neuropa- ral history studies promote the generation of scientifc thies and other genetically-associated retinal diseases knowledge by using real-world data. As rare diseases (such as Pseudoxanthoma Elasticum-associated retinopa- gain visibility as a public health priority and the mar- thy or isolated foveal hypoplasia) are not IRDs per se, we ketplace expands, acknowledgement of the importance opted to include them in the registry since these are com- of building collaborative relationships in rare disease mon diagnoses in an Ophthalmic Genetics clinic. Tis is Marques et al. Orphanet J Rare Dis (2020) 15:304 Page 3 of 13 Table 1 List and ORPHA numbers
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